Russian literature of the XIX-XX centuries. is rich in stories from the life and work of zemstvo doctors. Works by A.P. Chekhova, V.V. Veresaeva, M.A. Bulgakov firmly formed in us the image of a quiet, inconspicuous and encyclopedically educated doctor who did not like keep medical records, and wrote all the prescriptions to the pharmacist on a piece of paper. It may seem strange, but throughout the 20 years of active use of echography in obstetric practice in our country, ultrasound diagnostic specialists vaguely resembled zemstvo doctors, since each of them independently and in a completely arbitrary form gave conclusions about the development of the fetus. Each specialist personally decided which fetometric parameters should be assessed and included in the ultrasound examination protocol. This list depended on the doctor’s knowledge, his practical skills, as well as on the diagnostic capabilities of the ultrasound equipment used.

All years of existence prenatal ultrasound diagnostics The lack of a unified protocol for echographic examination of the fetus made it difficult for doctors from different clinics to understand each other, deprived specialists of the opportunity to correctly statistically process data, and introduced dissonance into the relationship between doctor and patient. The Russian Association of Ultrasound Diagnostic Physicians in Perinatology and Gynecology took upon itself the solution to the problem of standardization of echographic examination in our country.

Protocol for screening ultrasound examination at 10-14 weeks of pregnancy

Protocol for screening ultrasound examination at 10-14 weeks of pregnancy

This protocol was developed The association somewhat later developed the protocol for screening ultrasound examination in the second and third trimesters, which was approved as an official form by the Ministry of Health of the Russian Federation. The protocol for a screening study at 10-14 weeks of pregnancy, after long discussions, was approved and recommended for use by participants in the specialized seminar “Ultrasound diagnosis of congenital and hereditary pathology of the fetus in early pregnancy,” which was held as part of the III All-Russian Winter School of Ultrasound Doctors on January 20-27, 2001 G.

Rapid expansion of knowledge about fetal development in the first trimester of pregnancy requires making some changes to this document. After finalization, it will also be submitted for approval by the Ministry of Health of the Russian Federation, but until then it is of a recommendatory nature. It should be noted that the results of ultrasound examinations performed for one reason or another in earlier stages of pregnancy can be described in any form, since at the beginning of the first trimester the amount of objective information about the embryo and ovum is small.

Standard indicators of the coccygeal-parietal size of the embryo/fetus depending on the gestational age

Proposed screening protocol includes a description of echographic parameters available for study within 10-14 weeks, which are important for prognostic assessments of fetal development and the formation of indications for other types of prenatal examination. A detailed discussion of the protocol has been provided in the previous volume of the encyclopedia. dedicated to the prenatal diagnosis of congenital malformations in early pregnancy.

Fetometric parameters of the ultrasound examination protocol include only the coccygeal-parietal size and its correspondence to the menstrual period of pregnancy, expressed in complete weeks and days. In cases where multiple pregnancies are detected, each fetus is assessed. Measuring the average internal diameter of the yolk sac is of fundamental importance for making a prognostic assessment of the course of pregnancy. It should be remembered that normally this structure is visualized up to 12 weeks and then disappears. It is known that with abnormal sizes of the yolk sac, changes in its structure and echogenicity, the likelihood of a non-developing pregnancy increases; therefore, deviations from the normative values ​​when assessing the yolk sac require dynamic ultrasound and clinical monitoring of the patient.

Standard indicators (5th, 50th and 95th percentiles) of the thickness of the fetal nuchal space depending on the stage of pregnancy

It must be emphasized that parameters such as absolute size of the uterus, as well as the diameter of the gestational sac, do not have much clinical significance, so they were not included in the protocol.

Measuring the thickness of the collar area is of a fundamental nature and should be carried out in all cases according to generally accepted rules: 1) in 10-14 weeks of pregnancy with numerical values ​​of the coccygeal-parietal size of the fetus from 45 to 84 mm; 2) with strictly sagittal scanning of the fetus. A value exceeding the 95th percentile is taken as a deviation from the norm.

Assessment of fetal cardiac activity was introduced into the protocol as an indirect criterion for selection into a risk group for chromosomal pathology of the fetus, therefore, with each ultrasound examination, the heart rate should be noted. Standard indicators of fetal heart rate at 10-14 weeks of pregnancy, developed in our prenatal diagnostics center, are presented in the table.

Unlike screening protocol in the second trimester, the early pregnancy protocol will contain a mandatory recommendation for the next ultrasound examination indicating the specific date or duration of pregnancy. This column is an additional reminder to the patient and the attending physician that echography in the first trimester does not replace a comprehensive prenatal examination in more late dates. As already mentioned above, patients should be informed in detail that the first stage of the screening examination is aimed not so much at identifying fetal malformations, but at forming a risk group for VND.

Fetal heart rate, taking into account individual fluctuations depending on the stage of pregnancy

Recently, the results of many prenatal diagnostic centers our country has convincingly demonstrated the real achievements of practical doctors in diagnosing various defects in the early stages of pregnancy. This dictates the need to make certain changes to the protocol and include certain anatomical structures of the fetus in the mandatory assessment. The list of these structures is subject to further discussion, however, the analysis of published results and our own observations allowed us to draw a conclusion about the need to evaluate the following anatomical structures and organs of the fetus:
- bones of the cranial vault;
- "butterfly";
- spine;
- stomach;
- anterior abdominal wall;
- bladder; limb bones.

When assessing the bones of the cranial vault, already at the end I trimester there is an opportunity detection of such developmental defects as acrania/exencephaly/anencephaly, and also increases the likelihood of early diagnosis of craniocerebral hernia.

The concept of “butterfly” we proposed earlier includes a normal image brain structures, represented by the choroid plexuses of the lateral ventricles and M-echo. Clear visualization of the M-echo allows early suspicion of many severe brain defects, for example, holoprosencephaly.

The spine, stomach, bladder and limb bones of the fetus are assessed in the same way as in II trimester of pregnancy. The doctor conducting the study must note the presence of all of the listed structures, and in the case of an atypical ultrasound picture, recommend dynamic monitoring.

I would like to emphasize once again that the main task of I screening ultrasound examination consists of forming a risk group for VND. Early diagnosis of congenital malformation is a major task that cannot yet be effectively solved within the framework of practical healthcare. Of course, every doctor should strive to improve early examination. But it should be remembered that the technical complexity of assessing fetal structures in the early stages, the constantly changing echographic picture, and the small size of the internal organs do not allow, in the vast majority of cases, to accurately diagnose malformations in the first trimester of pregnancy. Objective difficulties of visualization in early pregnancy dictate the need to protect the doctor from unjustified legal liability. “What is written with a pen cannot be cut out with an axe” - this folk wisdom formed the basis for the decision of the Association members not to include in the screening examination protocol in the first trimester a mandatory anatomical assessment of all organs and systems of the fetus and to limit ourselves to only the above list. If a particular developmental anomaly is detected, a detailed description of the diagnosed changes can be presented in the “Features” section.

Ultrasound of early pregnancy

Number________________________________

Full name______________________________ Age___________

Delayed menstruation (number of days) ________________________

Internal diameter of amnion (mm) ______________________

Wall thickness Pl/I (mm) 1-3; 3-4; 3-4;4-5; 4-5 to 6-7 in the area of ​​the villous chorion; 4 to 11-12 villous chorion; 4 to 13-14 villous chorion.

Structure of the amnion: homogeneous liquid, yolk sac.

PREGNANCY TERM (LP) ______________

Doctor of Medical Sciences obstetrician-gynecologist Sokolova T.M____________

PROTOCOL FOR SCREENING ULTRASOUND EXAMINATION AT 11-14 WEEKS OF PREGNANCY

Date " "_________2009

Study No.______;

FULL NAME. patients _____________________Age____________;

First day of last menstruation_______________;

Gestation period _________weeks ________days;

Estimated date of birth " " _________ 200___;

Type of study: transabdominal and or transvaginal;

The fetus(es) is visualized in the uterine cavity;

The coccygeal-parietal size of the fetus_______ mm, corresponds, does not correspond to the menstrual period of pregnancy;

Fetal heart rate _____ beats per minute;

The thickness of the collar space is _____ mm;

Yolk sac: visualized, not visualized;

The average internal diameter of the yolk sac is _____mm;

Predominant localization of the chorion: anterior, posterior, right, left side walls, fundus of the uterus, area of ​​the internal pharynx;

The structure of the chorion: not changed, changed;

Features of the uterine appendages

________________________________

Features of the structure of the walls of the uterus _

Visualization: satisfactory, difficult;

Peculiarities:________________________

Conclusion:_________________________

Ultrasound control in _________weeks;

Doctor of Medical Sciences obstetrician-gynecologist Sokolova T.M_______________

NOVOSIBIRSK STATE MEDICAL UNIVERSITY

State educational institution of higher professional education Department of Polyclinic Gynecology and Obstetrics, Faculty of Dentistry

630091, Novosibirsk, Krasny prospect, 52, tel./ 229-10-14, cell. tel. 8-913-984-52-58 e-mail: [email protected]

PROTOCOL FOR SCREENING ULTRASOUND STUDY AT 21-24 WEEKS OF PREGNANCY

Date of study __._________________ Study No.

FULL NAME. ____________________ Age _______________

First day of last menstruation _.__ Gestation period ___ weeks

Available _____ alive(s) fetus(s) in unstable presentation

FETOMETRY:

Biparietal head size ___ mm Head circumference ______ mm

Frontal - occipital size ________ mm; Diameter abdomen __ mm

Femur length: left _____ mm right ______________ mm

Length of shin bones: left ____ mm right _______________ mm

Humerus length: left _____ mm right ______________ mm

Length of forearm bones: left __ mm right ____________________ mm

Fetal size: corresponds to ____ weeks.

FETAL ANATOMY:

Lateral ventricles of the brain _________ Cerebellum _____ mm____

Large tank _____

Facial structures: profile ______

Nasolabial triangle ___________ Eye sockets __________

Spine _____________________ Lungs step. Maturity -0___________

4-chamber section of the heart __________SB beats per 1 min. Stomach _________

Intestines ______________________ Bladder _________

Kidneys _______________________

Place of attachment of the umbilical cord to the anterior abdominal wall _________

PLACENTA, UMBILICAL CORD, AMBITIONAL FLUID:

The placenta is located along the front rear the wall of the uterus, more on the right/left, at the bottom ______ cm above the internal pharynx, area of ​​the internal pharynx

Placenta thickness: normal, reduced/increased to _____________ mm

Interpretation of ultrasound during pregnancy is carried out by two doctors - an ultrasound diagnostic specialist and the attending obstetrician-gynecologist. The first gives a conclusion about the duration of pregnancy and the detected features and pathology, the second compares them with family history, the characteristics of the course of pregnancy specifically for this woman.

Based on all this, a conclusion is made whether everything is in order, whether measures need to be taken to correct the condition of the fetus, uterus or other organs. The study is carried out according to a specific protocol, which is slightly modified depending on the stage of pregnancy. The doctor examines the fetus, placenta, umbilical cord, amniotic fluid, cervix and uterine body, takes certain measurements and enters them into the pregnancy ultrasound form.

How are the results of an ultrasound scan of pregnant women interpreted?

Based on all the data provided, at the end of the study a conclusion is drawn and recommendations are made. Here the sonologist writes when, in his opinion, it is worth undergoing the next examination, and how soon after the ultrasound you need to visit the antenatal clinic doctor.

The important ultrasound findings during pregnancy differ in the first trimester from those that will be assessed later - in the second and third trimesters. This is due to the fact that the child does not immediately turn out the way he is born.

It develops from a “disc” (this is how ultrasound sees it until the 10th week), passing through the embryonic stage (visible on a monitor that looks like a fish), and only then does it develop full-fledged arms, legs, torso and head, which are measured using ultrasound .

First trimester study

The first ultrasound examination protocol during pregnancy includes the following data:

1. Woman's passport details
2. Obstetric gestational age (calculated based on the last menstrual period)
3. Number of fetuses in the uterus
4. Coccygeal-parietal (CP) size of the fetus (this indicator is the “predecessor” of the indicator “height” or “body length”): indicated in millimeters
5. Heartbeats (here they write whether they are present (s/b +) or not (s/b -)), their frequency
6. Collar thickness (mm)
7. Presence or absence of a yolk sac, if present - its average diameter
8. Location of the chorion (future placenta): it can be located on any wall of the uterus, as well as in the area of ​​its fundus or internal os. The last option is called “chorion or placenta previa”
9. The structure of the chorion: normally should not be “changed”
10. Uterine appendages: their size, presence of cysts, developmental anomalies are assessed
11. Features of the structure of the uterus: tumors, fibroids, developmental anomalies.

After the doctor has written down specific measurement numbers, he needs to compare them with ultrasound standards during pregnancy. They are assessed depending on the gestational age. Moreover, it should be noted that research conducted before 8 weeks gives the most accurate results about the timing of pregnancy, since at this time the embryos do not yet have individual characteristics .

Parameter table

Thus, normal fetal ultrasound parameters by week of pregnancy can be presented in the form of a table, where all parameters, except for the term, are presented in millimeters:

Duration in weeks	KTR	Yolk sac, inner diameter	Diameter of fertilized egg	Biparietal diameter
5	1-2	Not measured	5-18	Not measured
6	4-5	3,01	13-22	Not measured
7	5-17	4,0	21-24	Not measured
8	10-25	4,5	29-30	6-7,0
9	16-36	5,0	33-36	8,5-10
10	24-49	5,10	39-44	11-14
11	34-58	5,50	47-51	13-21
12	42-73	6,0	56-57	18-24
13	51-87	5,85	63-65	20-28

This is an average table for interpreting ultrasound during pregnancy. Ultrasound doctors use the full version, where each parameter has its own norms depending not only on the week, but also on the day of pregnancy (for example, 6 weeks 5 days differs from 6 weeks exactly).

In addition, their tables determine whether a given indicator lies within the average value, or whether there are some deviations upward or downward (“centile grid”).

After the examination, the result of an ultrasound scan during pregnancy is given. For example: “There is one fetus, the gestational age corresponds to ... weeks, ... days. No developmental anomalies were found. The uterus and appendages are without any features. Recommended: re-examination at 20 weeks.”

If you ask, the doctor can give you an ultrasound pregnancy certificate of the following type (so that you can show it at work if it is associated with difficult or harmful conditions):

“The patient (full name), according to transvaginal (transabdominal) examination, has an (uncomplicated, complicated) pregnancy ... weeks, ... days. Recommended: dynamic observation in a antenatal clinic (hospital).”

Features of research in the first trimester, questions for pregnant women

Issues in the detection of developmental anomalies

The first ultrasound is aimed mainly at confirming a developing pregnancy, determining the timing of ultrasound during pregnancy, and detecting malformations.
During this period, they look very carefully to see if chromosomal abnormalities have appeared. They are the ones that can lead to the death of a fetus or newborn; because of them, a child can be born deeply disabled.

Read also:

Folliculogenesis or How to find out about ovulation by ultrasound

A routine ultrasound examination in the first trimester, among other things, especially carefully examines certain areas on the fetal body (for example, the nasal bone, the collar area). If any abnormalities are found in them, the pregnant woman is sent for an expert ultrasound scan during pregnancy.

This study feels no different from a standard ultrasound of pregnant women; it can be performed either transvaginally or through the abdomen. Only it is carried out by high-class specialists in the field of prenatal (that is, prenatal) diagnostics.

The devices on which such research is carried out have high resolution capabilities. Therefore, such a study is also called ultrasound of pregnant women for fetal deformity.

Now specifically about those very marker zones. What is TVP on ultrasound during pregnancy. This abbreviation refers to the thickness of the collar zone, that is, the area between the skin and soft tissue (where fatty tissue is in adults) in the neck area. In pathology, it is abundantly filled with fluid.

The nuchal translucency is measured at 10-14 weeks, when the CTE is 45-84 mm; its increase is a marker of Down syndrome. After the 14th week, the fetal lymphatic system actively starts working, removing excess fluid, therefore, even if a child with a chromosomal abnormality develops, nothing can be judged by the thickness of the collar zone.

First, the size of the TVP is assessed by a first-level doctor (if there is no immediate indication for an expert assessment) and compared with ultrasound standards by week of pregnancy:

Ultrasound for Down's during pregnancy is carried out by expert specialists. It has the following features:

• TVP is higher than normal at 11-13 weeks
• by 11 weeks the nasal bone is not visible, and from 15 to 21 it is much smaller than normal
• facial contours are smoothed
• in the venous duct - reverse (reverse) blood flow.

Non-pathological features of the first trimester

About hormonal regulation of pregnancy

Corpus luteum on ultrasound during pregnancy. Until 12-16 weeks, this formation produces progesterone, which is necessary to maintain pregnancy, then the placenta takes over this function.

• After a delay in menstruation, the presence of a corpus luteum means that, most likely, you are pregnant, although the embryo is not yet visible.
• The size of 2-3 cm of the corpus luteum in the presence of a confirmed pregnancy indicates its normal course. The same size without pregnancy is a corpus luteum cyst.
• If there is pregnancy, and the corpus luteum is less than 20 mm, this indicates that there is a danger to bearing the fetus, since there is little progesterone.

An ultrasound showed pregnancy, but the test was negative. This situation should not exist. But if you bought tests from different manufacturers, and they all show 1 line, there may be pathologies (for example, a polyp, tumor or hydatidiform mole) taken for pregnancy. It is necessary to conduct an ultrasound examination in dynamics, as well as determination of hCG in the blood.

Other features of ultrasound diagnostics

Sometimes an ultrasound shows a multiple pregnancy. This, of course, is a surprise for parents, but there is nothing wrong with that. The occurrence of twins or triplets is especially likely in those parents who have already had such cases in their family.

Signs of multiple pregnancy before ultrasound

• early and severe toxicosis - vomiting, nausea, drooling, there may be asthma, cramps in the limbs
• the test becomes positive, with the second strip visible as a thick line
• gaining weight quickly
• belly grows rapidly
• a lot of active movements are felt after 16 weeks, and it is not clear where there are more movements - on the right, left, below or above.

Ultrasound diagnostics in the second and third trimesters

Interpretation of ultrasound during pregnancy is also carried out according to the protocol. Only in this case, there are much more ultrasound indicators during pregnancy.

Fetal presentation

Presentation is the part of the fetus that lies towards the exit of the uterus. This is especially important in the third trimester, when it is not long before giving birth.

For example, if an ultrasound shows a breech presentation of the fetus, and a photo of the study confirms this, then the obstetricians’ tactics are as follows:

• try to perform an external rotation (at 33-34 weeks, under ultrasound control)
• if this fails, or breech presentation is discovered later, delivery is usually performed by caesarean section.

Number of fruits

At this time, an ultrasound examination can already determine exactly how many children you will become the parents of. The fact that you have a multiple pregnancy will be confirmed by an ultrasound photo: there you will see two heads, two torsos, and so on. A 4D ultrasound during pregnancy will show a three-dimensional image of each child in real time.

Fetal fetometry

In the second and third trimester, knowledge of norms for a much larger number of indicators helps to decipher pregnancy ultrasound. So, in order to assess how well the size of the fetus corresponds to the calculated obstetric period, such a concept as biometry is used, and interpretation of ultrasound during pregnancy is carried out precisely according to its standards. There are norms for the following indicators of fetal fetometry:

• bone parietal distance (BPD),
• chest diameter (CHD)
• head circumference (OG)
• abdominal circumference (AC)
• sagittal (SG) and transverse (TC) abdominal dimensions
• thigh length (DB)
• length of each leg bone
• shoulder length (LP)
• lengths of the radius and ulna
• height.

MODERN POSSIBILITIES OF ULTRASOUND RESEARCH IN PRENATAL DIAGNOSIS OF CONGENITAL AND HEREDITARY DISEASES IN EARLY PREGNANCY (Literature review).

1.1. The thickness of the nuchal translucency and the length of the fetal nasal bones as prenatal echographic markers of fetal chromosomal abnormalities in early pregnancy.

1.2. Possibilities of prenatal echography in the early diagnosis of spina bifida in the fetus.

1.3. Prenatal aspects of a single umbilical cord artery as a marker of congenital and hereditary diseases.

CLINICAL CHARACTERISTICS OF PREGNANT WOMEN EXAMINED AND RESEARCH METHODS.

2.1. Clinical characteristics of the examined pregnant women.

2.2. Research methods.

DEVELOPMENT OF REGIONAL REGIONAL INDICATORS FOR THE THICKNESS OF THE COLLAR SPACE AND THE LENGTH OF THE FETAL NASAL BONES AT 11-14 WEEKS OF PREGNANCY.

3.1. Collar space.

3.2. Length of nasal bones.

DEVELOPMENT OF NORMATIVE INDICATORS AND DIAGNOSTIC VALUE OF ASSESSMENT OF THE IV VENTRICLE OF THE FETAL BRAIN FOR DETECTING SPINAL HERNIA IN EARLY PREGNANCY.

4.1. Development of normative indicators of the IV ventricle of the fetal brain at 11-14 weeks of pregnancy.

4.2. Diagnostic value of assessing the fourth ventricle of the fetus for prenatal ultrasound detection of spina bifida in early pregnancy.

POSSIBILITIES OF PRENATAL ECHOGRAPHY IN EARLY DIAGNOSIS OF A SOLE UMBILICAL CORD ARTERY.

Recommended list of dissertations

• Ultrasound prenatal markers of congenital and hereditary diseases in early pregnancy 2012, Doctor of Medical Sciences Altynnik, Natalya Anatolyevna

• The value of ultrasound assessment of the thickness of the fetal nuchal space in early pregnancy for the prenatal diagnosis of chromosomal abnormalities 2002, Candidate of Medical Sciences Altynnik, Natalya Anatolyevna

• Expanded fetal nuchal space as a prenatal echographic marker of congenital and hereditary diseases 0 year, Candidate of Medical Sciences Kopytova, Elena Ivanovna

• Ultrasound diagnosis of congenital malformations of the fetus in early pregnancy 2007, Doctor of Medical Sciences Esetov, Murad Azedinovich

• Prenatal ultrasound diagnosis of congenital heart defects in early pregnancy 2009, Doctor of Medical Sciences Shevchenko, Elena Anatolyevna

Introduction of the dissertation (part of the abstract) on the topic “Improving the protocol for screening ultrasound examination in 11-14 weeks of pregnancy”

Reducing perinatal morbidity and mortality is one of the main tasks in the system of maternal and child health care, in the structure of which congenital and hereditary diseases occupy a leading place. Up to 2.5% of newborns are born with hereditary defects, which are usually severe. Severe chromosomal defects, which have an absolutely unfavorable prognosis for life and health, are registered in 2-3 cases per 1000 newborns. In this regard, a program for the prevention of congenital and hereditary pathologies in children is of particular importance, one of the main components of which is the prenatal detection of both congenital malformations and chromosomal defects.

In the Russian Federation, 3 screening ultrasound examinations are regulated at 11-14, 20-22 and 32-34 weeks of pregnancy (Order of the Ministry of Health and Social Development of the Russian Federation No. 808n dated October 2, 2009 “On approval of the procedure for providing obstetric and gynecological care.” However, if in In the second and third trimesters of pregnancy, prenatal ultrasound diagnosis of congenital malformations is in many ways no longer difficult, but the use of echography in the early stages of pregnancy still requires the solution of many methodological issues.

Thus, the issues of the feasibility of developing regional standards for the most informative echographic markers of chromosomal abnormalities in early pregnancy - the thickness of the nuchal space and the length of the nasal bones of the fetus - are unresolved and have been comprehensively discussed in recent years (Kozlova O.I., 2007; Kopytova E.I., 2007 ; 8opek I. et al., 2006). In addition, domestic and foreign researchers have so far accumulated experience in using echography in the diagnosis of only severe developmental defects (Medvedev M.V. et al., 2005; Kosovtsova N.V., 2007; Shevchenko E.A., 2007; Esetov M.A. , 2007; McOyoeB K., 2008). Most fetal defects are still diagnosed only in the second half of pregnancy. Of particular interest is improvement; prenatal ultrasound diagnosis of spina bifida, as well as the only one; umbilical cord artery in the early stages of pregnancy, which is: one of the leading markers of congenital and hereditary diseases;

Therefore, an urgent task! is: development of: new: prenatal echographic markers that could be effectively used for; screening ultrasound examinations in early pregnancy.

PURPOSE AND OBJECTIVES OF THE STUDY

The purpose of this work was to improve the screening protocol: ultrasound examination; to increase the efficiency of renal diagnostics^ of congenital and hereditary diseases in ■ 11-14 weeks of pregnancy. To achieve the set goals during the study, the following tasks were solved:

1. Develop regional normative percentile indicators of the thickness of the collar space: and the length of the nasal bones of the fetus at 11-14 weeks of pregnancy.

2. Conduct a comparative analysis of the developed standard indicators of the thickness of the collar space; and the length of the nasal bones.of the fetus with similar indicators in other regions.

3. Develop normative percentiles: values ​​of the fourth ventricle of the brain? fetus at 11-14 weeks of pregnancy and evaluate the effectiveness of using this parameter for the early diagnosis of spina bifida.

4". To develop a method for studying the umbilical cord vessels during screening ultrasound examination at the end of the first trimester of pregnancy to ensure early prenatal diagnosis of the only umbilical cord artery.

SCIENTIFIC NOVELTY OF RESEARCH

In this work, for the first time, using sufficient clinical material, regional standards have been developed for the most informative prenatal echographic markers of chromosomal abnormalities in early pregnancy - the thickness of the nuchal translucency and the length of the nasal bones of the fetus. For the first time, the high information content of echo-graphic assessment of the size of the fourth ventricle of the fetal brain for early prenatal diagnosis of spina bifida has been shown. Regional percentile values ​​of the IV ventricle of the fetal brain at 11-14 weeks of pregnancy have been developed. For the first time, a method for assessing umbilical cord vessels in early pregnancy has been developed and its high informative value in early prenatal diagnosis of a single umbilical cord artery has been shown.

PRACTICAL SIGNIFICANCE OF THE WORK

The practical significance of the work lies in the implementation of a standardized, improved approach to assessing the ultrasound anatomy of the fetus during screening ultrasound examinations in 11-14 weeks of pregnancy to identify a high-risk group for congenital and hereditary diseases, which will increase the efficiency of early prenatal diagnosis of both chromosomal abnormalities and various congenital diseases. vices. Standard indicators for the most informative echographic markers of chromosomal abnormalities in early pregnancy have been developed. Based on the results obtained, a new protocol for screening ultrasound examination of the fetus at the end of the first trimester of pregnancy has been developed.

PROVISIONS FOR PROTECTION

1. Regional standards are required to use the length of the fetal nasal bones as an echographic marker of chromosomal abnormalities in early pregnancy.

2. Assessment of the size of the IV ventricle of the fetal brain is a highly informative prenatal echographic criterion in identifying spina bifida at the end of the first trimester of pregnancy.

3. The study of the umbilical arteries at the level of the fetal bladder using color Doppler mapping is a highly informative method for prenatal diagnosis of the only umbilical cord artery at 11-14 weeks of pregnancy.

IMPLEMENTATION OF RESEARCH RESULTS

The results of the study were introduced into the practice of the Prenatal Diagnostics Center at Maternity Hospital No. 27 in Moscow, the Ultrasound Diagnostics Department No. 2 of the Maternity Hospital No. 4 in Krasnoyarsk and the Prenatal Diagnostics Department of the Ulyanovsk Regional Clinical Hospital. The results of the work are used in training cadets at the Department of Ultrasound and Prenatal Diagnostics of the Federal State Educational Institution PDO “Institute for Advanced Studies of the Federal Medical and Biological Agency.”

STRUCTURE AND SCOPE OF THE DISSERTATION

The dissertation is presented on 105 pages of typewritten text, consists of a title page, table of contents, introduction, four chapters of own research, discussion of the results obtained, conclusions and practical recommendations. The list of references consists of 30 domestic and 78 foreign sources. Illustrative material is presented in 9 tables and 31 figures.

The work was carried out on the basis of the Department of Ultrasound and Prenatal Diagnostics (head of the department - Doctor of Medical Sciences, Professor M.V. Medvedev) of the Federal State Educational Institution PDO "Institute for Advanced Studies of the Federal Medical and Biological Agency."

Clinical observations and material collection were carried out in maternity hospital No. 1 in Astana and in the prenatal diagnostic center at maternity hospital No. 27 in Moscow.

Similar dissertations in the specialty "Radiation diagnostics, radiation therapy", 01/14/13 code VAK

• The value of transvaginal echography in early pregnancy for the prenatal diagnosis of congenital and hereditary diseases 2004, Candidate of Medical Sciences Shevchenko, Elena Anatolyevna

• Fetal nasal bone length as a prenatal echographic marker of chromosomal abnormalities 2007, Candidate of Medical Sciences Kozlova, Olesya Ivanovna

• Combined ultrasound and biochemical screening of fetal chromosomal pathology in the first trimester of pregnancy in pregnant women in the Northwestern region of Russia 2005, Candidate of Medical Sciences Nekrasova, Ekaterina Sergeevna

• DIAGNOSTIC VALUE OF DOPPLER GRAPHY OF BLOOD FLOW IN THE DUCTUUS VENOUS OF THE FETAL IN EARLY PREGNANCY 2013, Candidate of Medical Sciences Lisyutkina, Evgenia Valerievna

• Comprehensive ultrasound assessment of fetal facial structures to identify fetuses with Down syndrome in the second trimester of pregnancy 2013, Candidate of Medical Sciences Strupeneva, Ulyana Anatolyevna

Conclusion of the dissertation on the topic “Radiation diagnostics, radiation therapy”, Badigova, Elena Aleksandrovna

D. In the course of the studies, it was found that the upper; the boundary of the normative values ​​for the thickness of the fetal nuchal space (95th percentile) in< казахской популяции в сроки от 11 недель/О дней до 11 недель/б; дней» беременности; является^ 2,1; мм, 12 недель/О дней - 12 недель/6 дней - 2,4 мм, 13 нсдель/Одней - 13 иедель/6 дней -2,5 мм, что достоверно не отличается от российских популяционных значений.

2. Byazhney; border; The normative values ​​for the length of the nasal bones of the fetus (5th percentile) in the Kazakh population in periods from 11 weeks/O days to 11 weeks/6 days of pregnancy is 0.7 mm, 12 weeks/0 days - 12 weeks/6 days - 0^ 9 mm, 13 weeks/0 days - 13 weeks/6 days - 1.2 mm, which is; significantly lower than Russian population values.

3. Ultrasound assessment of the size of the fourth ventricle of the fetal brain is a highly informative diagnostic criterion for spina bifida during ultrasound screening at 11-14 weeks of pregnancy. When used as a diagnostic criterion, the absence of an image of the fourth ventricle allows increasing the accuracy of prenatal diagnosis of spina bifida: from 50% (with a standard assessment of the fetal spine) to 80%.

4. According to the results of our research; the most accurate method, prenatal ultrasound diagnosis^ of the single umbilical cord artery at 11-14 weeks of pregnancy is! study of the umbilical arteries at the level of the fetal bladder using color Doppler mapping. This method makes it possible to identify a single umbilical cord artery during the first screening ultrasound examination in 100% of cases.

1. When echographically assessing the length of the nasal bones of the fetus during a screening ultrasound examination at 11-14 weeks of pregnancy, it is necessary to take into account the population characteristics of normative indicators.

2. The ultrasound screening protocol for studying the anatomical structures of the fetus at the end of the first trimester of pregnancy must be supplemented with an assessment of the fourth ventricle of the fetal brain to ensure earlier diagnosis of spina bifida.

3. To achieve the most accurate prenatal ultrasound diagnosis of a single umbilical cord artery in 11-14 weeks of pregnancy, it is necessary to study the umbilical arteries at the level of the fetal bladder using color Doppler mapping.

List of references for dissertation research Candidate of Medical Sciences Badigova, Elena Aleksandrovna, 2011

1. Altynnik H.A. The value of ultrasound assessment of the thickness of the fetal nuchal space in early pregnancy for prenatal diagnosis of chromosomal abnormalities: Diss. . Ph.D. honey. Sci. M., 2002.

2. Altynnik N.A., Medvedev M.V. Standard values ​​of the coccygeal-parietal size and thickness of the fetal nuchal space in early pregnancy // Ultrasound. Diagnosis Obstetrics Gin. Pediatrician. 2001. T. 9. No. 1.S. 35-37.

3. Altynnik N.A., Yudina E.V., Medvedev M.V. and others. Perinatal outcomes with echographic markers of congenital and hereditary pathology. IV. Expanded collar space // Prenat. Diagnosis 2003. T. 2. No. 3. P. 174-179.

4. Voskresenskaya S.B., Vaitsekhovich I.A. The effectiveness of an ultrasound marker of the first trimester of pregnancy of the expanded nuchal space - in the prenatal diagnosis of chromosomal pathology // Prenat. Diagnosis 2003. T. 2. No. 4. P. 266-269.

5. Girling J. On the significance of laboratory research results // Russian Medical Journal. 1995. T. 1. No. 5. P. 5.

6. Glanz S. Medical and biological statistics. Per. from English M., Praktika, 1998. 459 p.:

7. Klipa M.V., Pankova E.E., Golikhina T.A. and others. Prenatal diagnosis of Down syndrome in the Krasnodar region: successes and problems //

8. Prenate. Diagnosis 2004. T. 3. No. 4. P. 261-264.

9. Kozlova O.I. The length of the fetal nasal bones as a prenatal echographic marker of chromosomal abnormalities: Diss. . Ph.D. honey. Sci. M., 2007.

10. Kosovtsova N.V., Shamanskaya E.F., Kopytova E.I. Realities of prenatal ultrasound diagnosis of congenital defects in early pregnancy in Yekaterinburg // Prenat. Diagnosis 2004. T. 3. No. 4. P. 319-320.

11. Kosovtsova N.V., Shamanskaya E.F., Kopytova E.I. Enlarged nuchal space in the fetus: combination with chromosomal abnormalities and congenital malformations // Prenat. Diagnosis 2004. T. 3. No. 3. P. 234-235.

12. Kuznetsova T.V., Baranov A.N., Kiseleva N.V. and others. Prenatal diagnosis of chromosomal diseases in the fetus: ten years of experience // Bulletin of the Russian Association of Obstetricians and Gynecologists. 1997. No. 3. P. 95-99.

13. Medvedev M.V., Altynnik N.A. Nuchal translucency in fetuses in early pregnancy: new aspects of prenatal diagnosis //Ultrasound. Diagnosis Obstetrics Gin. Pediatrician. 1999. T. 7. No. 1. P. 1926.

14. Medvedev M.V., Altynnik N.A. The length of the fetal nasal bones at 12-14 weeks of pregnancy as a prenatal echographic marker of chromosomal abnormalities // Prenat. Diagnosis 2003. T. 2. No. 1. P. 66-70.

15. Medvedev M.V., Altynnik N.A. On the issue of ultrasound assessment of fetal anatomy in early pregnancy // Prenat. Diagnosis 2002. T. 1. No. 2. P. 158-159.

16. Medvedev M.V., Yudina E.V. Ultrasound screening // Fundamentals of prenatal diagnosis / Ed. Yudina E.V., Medvedeva M.V. M.: Real Time, 2002. P. 41-88.

17. Medvedev M.V., Altynnik N.A. Basics of ultrasound screening in 11-14 weeks of pregnancy. M.: Real Time, 2009. 108 p.

18. Nekrasova E.S., Talantova O.E., Koroteev A.L., Baranov V.S. Cases of prenatal diagnosis of multiple malformations at the end of the first trimester of pregnancy // Prenat. Diagnosis: 2004. T. 3. No. 2. P. 31-34.

19. Nekrasova E.S., Koroteev A.L., Kuznetsova T.V., Baranov V.S. A new approach to calculating risk* during screening* ultrasound examination in the first trimester of pregnancy // Prenat. Diagnosis 2005. T. 4. No. 1. P. 22-281

20. Novikova, I.V., Lazyuk G.I., Pribushenya O.V. and others. Morphological study of the heart in fetuses with chromosomal diseases aborted after prenatal diagnosis in the first trimester of pregnancy // Prenat. Diagnosis 2004. T. 3. No. 3. P. 197-202.

21. Fundamentals of prenatal diagnosis / Ed. Yudina E.V., Medvedeva M.V. M.: RAVUZDPG, Realnoe Vremya, 2002. 184 p.

22. Prenatal echography / Ed. Medvedeva M.B. M.: Real Time, 2005. 560 p.

23. Snyders RJM, Nicolaides KH. Ultrasound markers of fetal chromosomal defects. M.: Vidar, 1997. 175 p.

24. Ultrasound fetometry: reference tables and nomograms / Ed. Medvedeva M.B. M.: Real Time, 2002. P. 80.

25. Shevchenko E.A. The importance of transvaginal echography in early pregnancy for prenatal diagnosis of congenital and hereditary diseases: Diss. . Ph.D. honey. Sci. M., 2004.

26. Esetov M.A. Prenatal* ultrasound diagnosis of congenital defects in the first trimester of pregnancy. II. Spina bifida // Prenat. Diagnosis 2003. T. 2. No. 4. P. 274-278.

27. Yudina E.V. Trisomy 18: analysis of 28 cases of prenatal diagnosis // Prenat. Diagnosis 2002. T. 1. No. 1. pp. 35-42.

28. Yudina E.V. Echographic markers of fetal chromosome anomalies: the only umbilical cord artery // Prenat. Diagnosis 2002. T. 1. No. 3. P. 240.

29. Yudina E.V. Ultrasound prenatal markers of chromosomal abnormalities in the second trimester of pregnancy: Diss. . doc. honey. Sci. M., 2003.

30. Yudina E.V., Medvedev-M.V. Multicenter study “Prenatal diagnosis of Down syndrome in Russia in 2005, or Perinatal drama in three parts with a prologue and epilogue” // Prenat. Diagnosis 2007. T. 6. No. 4. G. 252-257.

31. Belosovicova H., Svyatkina O., Manasova S., Valtrova H., Calda P. Presence of intracranial translucency (IT) in a case of large open spina bifida // Ultrasound Obstet. Gynec. 2010. V. 36 (Suppl. 1). P. 184.

32. Bernard J.P., Senat M.V., Ville Y. Intra and inter observer variability in nasal bones assessment at 11-14 weeks // Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. 1. P. 82.

33. Bilardo C.M., Miiller M.A., Pajkrt E. et al. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance // Ultrasound Obstet. Gynecol. 2007. V. 30. No. 1. P. 11-18.

34. Borobio V., Borrell A., Penalva V. et al. Nasal bone assessment in first trimester detection of trisomy 21 // Ultrasound Obstet. Gynecol. 2005. V. 26. P. 377.

35. Borrel! A., Borobio V., Gonce A. et al. Fetal?nasal bone and"ductus veno-sus blood-flow; assessed transvaginally at the 11-14 week scan - new data; including unselected and; high: risk pregnancies // Ultrasound Obstet: Gynecol. 2006. V. 28. P. 362.

36. Bower S., Ghitty L., Bewley Si et all First trimester nuchal translucency screening of the general population: data from three centers // 27th British Congress of Obstetrics and Gynaecology. Dublin; 1995.

37. Bromley B;, Lieberman E-., Shipp T., Benacerraf B. Fetal: nasal bone length: a marker for Down syndrome in the second trimester // J. Ultrasound Med. 2002. V. 21. P. 1387-1394.

38. Bronshtein M:, Zimmer E.Z. There is an absence of the nasal bone in every normal fetus in the early pregnancy // Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. l.P. 81.

39. Calda P., Koucky Mi, Viskova H. et al. Nasal bone length as a marker of Down syndrome//Ultrasound Obstet. Gynecol. 2003; V. 22. Suppl. l. P: 81,

40. Centini G., Rosignoli L., Kenanidis A., Petraglia F., Nasal; bone visualization: a comparison between 3D and 2D ultrasound1 in the 5 first-early "second trimester // Ultrasound Obstet. Gynecol; 2003. V. 22. Suppl. l.P. 81.

41. Chaoui R., Benoit B;, Mitkowska-Wozniak H., Heling K.S., Nicolaides K.H. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan // Ultrasound Obstet. Gynecol. 2009: V. 34. P. 249-252.

42. Ghasen S.T., Sharma G., Kalish R.B., Chervenak F;A. First-trimester screening for aneuploidy with fetal nuchal translucency in a United States-population // Ultrasound Obstet. Gynecol. 2004. P. 318.

43. Chen M., Lee C. P., Tang R. et al. First-trimester examination of fetal nasal bone in the Chinese population // Prenat. Diagn. 2006. V. 26. P. 703-706.

44. Cheng C.C., Bahado-Singh R.O., Chen S.C., Tsai M.S. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening // Int. J. Gynaecol. Obstet. 2004. V. 84. P. 5-9.

45. Cicero S., Bindra R., Rembouskos G. et al. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free ß-hCG and PAPP-A at 11 to 14 weeks II Prenat. Diagn. 2003. V. 23. P. 306-310.

46. ​​Cicero S., Curcio P., Papageorghiou A. et al. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study // Lancet. 2001. V. 356. P. 1665-1667.

47. Cicero S., Dezerega V., Andrade E. et al. Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks // Ultrasound Obstet. Gynecol. 2003. V. 22. No. 2. P. 135-137.

48. Cicero S., Longo D., Rembouskos G. et al. Absent nasal bone at 11-14 weeks of pregnancy and chromosomal defects // Ultrasound Obstet. Gynecol. 2003. V. 22. No. 1. P. 31-35.

49. Comas C., Martinez J.M., Ojuel J. et al. First-trimester nuchal edema as a marker of aneuploidy // Ultrasound Obstet. Gynecol. 1995. V. 5. P. 26-29.

50. Cossi P.S., Murta C.G.V., Bussamra L.C.S. et al. Ethnic variation of fetal nasal bone length between 11-14 weeks" gestation in Brazilian population //Ultrasound Obstet. Gynecol. 2006. V. 28. P. 519-520.

51. Csapo B., Husslein P., Krampl E. Multiplanar imaging of the nasal bone at 11-14 weeks 11 Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. 1. P. 8182.

52. De Keersmaecker B., Buisson O., Bernard J.P., Ville Y. Ultrasonographic diagnosis of spina bifida at 12 weeks: heading towards new indirect signs // Ultrasound Obstet. Gynecol. 2000. V. 16. Suppl. 1. P. 60.

53. Geipel A., Germer U., Welp T. et al. Prenatal diagnosis of single umbilical artery: determination; of the absent side, associated* anomalies, Doppler findings and perinataroutcome // Ultrasound Obstet. Gynecol. 2000. V. 15. P: 114-117. ".

54. Gonçalves L.F., Espinoza J., Lee W. et al. Hypoplastic rather than absent nasal? bones: a; novel phenotypic characteristic of trisomy 21. Description-by 3D ultrasound and clinical significance // Ultasound Obstct. Gynccol. 2004. V. 24. No. 3. P. 326-327.

55. Has R., Kalelioglu I., Ermis H. et al. First trimester screening of trisomy 21 by nuchal translucency measurement // Ultrasound Obstet. Gynecol; 2004. V. 24. No. 3. P. 321.

56. Henrich W., Minderer S., Gloning K.P.H., Stöger H. The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings. Ultrasound Obstet. Gynecoll 2003. V. 22. Suppl. 1. P. 81>.

57. Hernadi L., Torocsik M. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal-sonography in< an unselected population // Pre-nat. Diagn. 1997. V. 17. № 8. P. 753-759.

58. Hsiao G. Normal intracranial translucency at 11-13+6 weeks in Chinese population // Ultrasound Obstet. Gynec. 2010. V. 36 (Suppl. 1). P. 227.

59. Hui P.W., Lee C.P., Tang M.H.Y. Interobserver variability in ultrasound examination of fetal nasal bone at 10-14 weeks of gestation // Ultrasound Obstet. Gynecol. 2002. V. 20: Suppl; 1. P. 1-2.

60. Kanellopoulos V., Katsetos C., Economides D.E. Examination of fetal nasal bone and repeatability of measurement in early pregnancy // Ultrasound Obstet: Gynecol: 2003.V. 22; No. 2. P., 131-134.,

61. Krantz D.A., Hallahan T.W., Macri V.J. The effect of ethnicity on first trimester nasal bone assessment // Ultrasound Obstet. Gynecol. 2006. V. 28. P. 530.

62. Larose C., Massoc P., Hillion Y. et al. Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and postmortem X-ray in trisomy 21: a prospective observational study // Ultrasound Obstet. Gynecol. 20031 V. 22. No. 1. P. 27-30.

63. Malone F.D., Ball R.II., Nyberg D.A. et al. First trimester nasal bone evaluation for aneuploidy in an unselected general population: results from the FASTER trial//Am. J: Obstet. Gynecol. 2003. V. 189. S79.

64. Massoc P.H., Bernard J.P., Ville Y. Fetal nasal bones assessment in the general population at 11-14 weeks // Ultrasound Obstet. Gynecol. 2002. V. 20. Suppl. 1. P. 65.

65. McAuliffe F., Fong K., Toi A. et al. Ultrasound detection of fetal anomalies in the first trimester in conjunction with nuchal translucency screening: a feasibility study // Ultrasound Obstet. Gynecol. 2004. V. 24. No. 3. P. 349.

66. McLeod N.L., Young D.C., Van den Hof M.C. Interobserver variability of the subjective evaluation of the nasal bone and nasal bridge for the risk of Down syndrome after 18 wks" gestation // Ultrasound Obstet. Gynecol. 2006. V. 28. P. 414.

67. Monni G., Zoppi M.A., Ibba R.M. et al. Absence of fetal nasal bone and aneuploidies at 11-14 weeks in an unselected population // Ultrasound Obstet. Gynecol. 2002. V. 20. Suppl. 1. P. 89.

68. Monni G., Zoppi M.A., Ibba R.M. et al. First-trimester nuchal translucency and nasal bone assessment for Down syndrome screening at a single center // Ultrasound Obstet. Gynecol. 2006. V. 28. P. 362.

69. Moon M.H., Cho J.Y., Lee Y.M. et al. Nasal bone length at 11-14 weeks of pregnancy in the Korean population // Prenat. Diagn. 2006. V. 26. P. 524-527.

70. Morgan B.L.G., Ross M.G. Umbilical Cord Complications // www.emedicine.com, 2003

71. Munoz H., Dezerega V., Schnapp C. et al. Nuchal translucency screening program result in a Chilean center // Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. 1. P. 78-79.

72. Munoz H., Rencoret G., Leiva J., Diaz C., Barrera C., Rodriguez M., Toledo V., Germain A. Intracranial translucency (IT) reference range for Chilean population at the 11-13+6 weeks scan // Ultrasound Obstet. Gynec. 2010. V. 36 (Suppl. 1). P. 268-269.

73. Nizard J., Couderc S., Senat M.V. et al. Prospective follow-up of children with nuchal translucency above the 99th percentile at 11-14 weeks with normal karyotype. Results at 3 years // Ultrasound Obstet. Gynecol. 2004. V. 24. No. 3. P. 251-252.

74. Orlandi F., Bilardo C. M., Campogrande M. et al. Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment // Ultrasound Obstet. Gynecol. 2003. V. 22. No. 1. P. 36-39.

75. Orlandi F., Rossi C., Orlandi E. et al. Incorporation of nasal bone assessment into first-trimester Down syndrome screening with free beta hCG, PAPP-A and nuchal translucency // Ultrasound Obstet. Gynecol. 2006. V. 28. P. 42 (M21.

76. Otano L., Aiello H., Igarzabal L. et al. Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome // Prenat. Diagn. 2002. V. 22. No. 10. P. 930-932.

77. Pajkrt E., Mol B.W.J., Boer K. et al. Intra- and interoperator repeatability of the nuchal translucency measurement // Ultrasound Obstet. Gynecol. 2000. V. 15. No. 4. P. 297-301.

78. Peralta C.F.A., Falcon O., Wegrzyn P. et al. Assessment of the gap between the fetal nasal bones at 11 to 13+6 weeks of gestation by three-dimensional ultrasound // Ultrasound Obstet. Gynecol. 2005. V. 25. P. 464-467.

79. Pigni A., Ghisoni L., Castagna C. et al. Nuchal translucency measurements in 18,000 patients: FMF certified and non certified sonologists compared // Ultrasound Obstet. Gynecol. 2004. V. 24. No. 3. P. 324-325.

80. Prefumo F., Bhide A., Sairam S. et al. First-trimester absence of fetal nasal bone: effect of ethnicity // Ultrasound Gbstet. Gynecol. 2002. V. 20. Suppl. 1.P.3./

81. Schiott K.Mv Christiansen M:, Petersen OB., Uldbjerg N. First trimester screening for Down syndrome by “Consecutive Combined Test” in a high-risk population // Ultrasound! Obstet Gynecol. 2004". V. 24. No. 3. P. 246247.

82. Senat M.V., Bernard J.P., Boulvain M., Ville Y. Intra- and interoperator variability in fetal nasal bone assessment: at 11-14 weeks of gestation // Ultrasound "Obstet. Gynecol; 2003. V. 22. No. 2. P. 138-141.

83. Shah A.A., Lewis D., Vohra N. Absence of intracranial translucency on first trimester screen as a predictor of open-neural? tube defects // Ultrasound Obstet. Gyncc. 2010. V. 36 (Suppl. 1). P. 24.

84. Shalmi A.C., Woidemann K., SundbergK. et al. Outcome of fetuses with, enlarged nuchal translucency in the first trimester. Results from the “Copenhagen first trimester study” // Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. l.P. 12.

85. Shin J.S., Yang J.H., Chung J.H. et al. The relation between fetal nasal bone length and biparietal diameter in the Korean population // Prenat.

86. Diagn. 2006. V. 26. P. 321-323.

87. Sonek J., McKenna D., Webb D. et al. Nasal bone length throughout gestation: normal ranges based on 3537 fetal ultrasound measurements // Ultrasound Obstet. Gynecol. 2003. V. 21. No. 2. P. 152-155.

88. Sonek J.D., Cicero S., Neiger R., Nicolaides K.H. Nasal bone evaluation in prenatal screening for trisomy 21: a review // Ultrasound Obstet. Gynecol. 2006. V. 28. P. 414. "

89. Spencer K., Bindra R., Nicolaides K. Five years of experience of screening for chromosomal anomalies in a 1st trimester OSCAR clinic // Ultrasound Obstet. Gynecol. 2003. V. 22. Suppl. 1. P. 12.

90. Sperber G. Facial skeleton // Craniofacial development. Hamilton, Ontario, Canada: B. Decker Inc., 2001. P. 104.

91. Thilaganathan B., Khare M., Williams B., Wathen N.C. Influence of ethnic origin on nuchal translucency screening for Down's syndrome // Ultrasound Obstet. Gynecol. 1998. V. 12. No. 2. P. 112-114.

92. Van den Hof M.C., McLeod N.L., Young D.C. Subjective appraisal of fetal nasal bridge and/or bone for the risk of Down syndrome (DS) after 18 weeks" gestation // Ultrasound Obstet Gynecol. 2006. V. 28. P. 413414.

93. Vijayalakshmi B., Lees C., Goodburn S. et al. Two-stage combined nuchal plus triple test screening: the “pragmatic” test // Ultrasound Obstet. Gynecol. 2004. V. 24. No. 3. P. 247-248.

94. Viora E., Masturzo B., Errante G. et al. Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses //

95. Prenat. Diagn. 2003. V. 23. No. 10. P. 784-787.

96. Wong S.F., Ng W.F., Ho L.C. Histopathological findings of the nose of Down syndrome abortions // Prenat. Diagn. 2003. V. 23. No. 7. P. 561-563.

97. Zoppi M.A., Ibba R.M., Axiana C. et al. Absence of fetal nasal bone and aneuploides at first-trimester nuchal translucency screening in unse-lected pregnancies // Prenat. Diagn. 2003. V. 23. No. 6. P. 496-500.

Please note that the scientific texts presented above are posted for informational purposes only and were obtained through original dissertation text recognition (OCR). Therefore, they may contain errors associated with imperfect recognition algorithms. There are no such errors in the PDF files of dissertations and abstracts that we deliver.

Prenatal screening examination of the first trimester consists of two procedures: ultrasound diagnostics and blood testing for the possibility of genetic pathologies of the fetus. There is nothing wrong with these events. The data obtained through an ultrasound procedure and a blood test are compared with the norm for this period, which makes it possible to confirm the good or identify the poor condition of the fetus and determine the quality of the gestation process.

For the expectant mother, the main task is to maintain good psycho-emotional and physical condition. It is also important to follow the instructions of the obstetrician-gynecologist leading the pregnancy.

Ultrasound is only one examination of the screening complex. To obtain complete information about the baby’s health, the doctor must check the expectant mother’s blood for hormones and evaluate the results of a general urine and blood test.

Standards for ultrasound diagnostics I screening

During the first prenatal screening in the first trimester, the ultrasound diagnostic doctor pays special attention to the anatomical structures of the fetus, clarifies the gestational age (gestation) based on fetometric indicators, comparing with the norm. The most carefully assessed criterion is the thickness of the collar space (TVP), because This is one of the main diagnostically significant parameters, which makes it possible to identify genetic diseases of the fetus during the first ultrasound procedure. With chromosomal abnormalities, the nuchal space is usually expanded. Weekly TVP norms are given in the table:

When performing ultrasound screening in the first trimester, the doctor pays special attention to the structure of the facial structures of the fetal skull, the presence and parameters of the nasal bone. At 10 weeks it is already quite clearly defined. At 12 weeks, its size in 98% of healthy fetuses ranges from 2 to 3 mm. The size of the baby’s maxillary bone is assessed and compared with the norm, because a noticeable decrease in jaw parameters in relation to the norm indicates trisomy.

During the 1st screening ultrasound, the fetal heart rate (heart rate) is recorded and also compared with the norm. The indicator depends on the stage of pregnancy. Weekly heart rate norms are shown in the table:

The main fetometric indicators at this stage during the ultrasound procedure are the coccygeal-parietal (CP) and biparietal (BPR) dimensions. Their norms are given in the table:

Fetal age (week)	Average CTE (mm)	Average BPR (mm)
10	31-41	14
11	42-49	13-21
12	51-62	18-24
13	63-74	20-28
14	63-89	23-31

The first screening involves an ultrasound assessment of blood flow in the ductus venosus (Arantius), since in 80% of cases of its violation the child is diagnosed with Down syndrome. And only in 5% of genetically normal fetuses such changes are detected.

Starting from the 11th week, it becomes possible to visually recognize the bladder during ultrasound. At the 12th week, during the first ultrasound screening, its volume is assessed, since an increase in the size of the bladder is another evidence of the threat of developing trisomy (Down) syndrome.

It is best to donate blood for biochemistry on the same day as the ultrasound screening. Although this is not a mandatory requirement. Blood is drawn on an empty stomach. Analysis of biochemical parameters, which is carried out in the first trimester, is aimed at identifying the degree of threat of genetic diseases in the fetus. For this purpose, the following hormones and proteins are determined:

• pregnancy-associated plasma protein-A (PAPP-A);
• free hCG (beta component).

These indicators depend on the week of pregnancy. The range of possible values ​​is quite wide and correlates with the ethnic content of the region. In relation to the average normal value for a given region, the level of indicators fluctuates within the following limits: 0.5-2.2 MoM. When calculating the threat and deciphering the data for analysis, not just the average value is taken, all possible corrections for the anamnestic data of the expectant mother are taken into account. Such an adjusted MoM makes it possible to more fully determine the threat of developing genetic pathology in the fetus.

A blood test for hormones must be performed on an empty stomach and is often prescribed on the same day as the ultrasound. Thanks to the availability of standards for hormonal blood characteristics, the doctor can compare the test results of a pregnant woman with the norms and identify a deficiency or excess of certain hormones

HCG: risk assessment

In terms of information content, free hCG (beta component) is superior to total hCG as a marker of the risk of fetal genetic abnormalities. The beta-hCG norms for a favorable course of gestation are shown in the table:

This biochemical indicator is one of the most informative. This applies to both identifying genetic pathology and marking the course of the gestation process and changes occurring in the body of a pregnant woman.

Standards for pregnancy-associated plasma protein-A

This is a specific protein that the placenta produces throughout the gestational period. Its growth corresponds to the period of pregnancy development and has its own standards for each period. If there is a decrease in the level of PAPP-A in relation to the norm, this is reason to suspect the threat of developing a chromosomal abnormality in the fetus (Down and Edwards disease). The norms for PAPP-A indicators during normal gestation are shown in the table:

However, the level of protein associated with pregnancy loses its informative value after the 14th week (as a marker of the development of Down's disease), since after this period its level in the blood of a pregnant woman carrying a fetus with a chromosomal abnormality corresponds to the normal level - as in the blood of a woman with healthy pregnancy.

Description of the first trimester screening results

To evaluate the results of screening I, each laboratory uses a specialized computer product - certified programs that are configured for each laboratory separately. They make a basic and individual calculation of the threat indicators for the birth of a baby with a chromosomal abnormality. Based on this information, it becomes clear that it is better to carry out all tests in one laboratory.

The most reliable prognostic data are obtained by undergoing the first prenatal screening in the first trimester in full (biochemistry and ultrasound). When deciphering data, both indicators of biochemical analysis are considered in combination:

low values ​​of protein-A (PAPP-A) and elevated beta-hCG – a risk of developing Down syndrome in a child;
low levels of protein-A and low beta-hCG are a threat to Edwards disease in the baby.
There is a fairly accurate procedure to confirm a genetic abnormality. However, this is an invasive test that can be dangerous for both mother and baby. To clarify the need to use this technique, ultrasound diagnostic data are analyzed. If there are echo signs of a genetic abnormality on an ultrasound scan, the woman is recommended to undergo invasive diagnostics. In the absence of ultrasound data indicating the presence of a chromosomal pathology, the expectant mother is recommended to repeat the biochemistry (if the period has not reached 14 weeks), or wait for the indications of the 2nd screening study in the next trimester.

Chromosomal disorders of fetal development are most easily identified using a biochemical blood test. However, if the ultrasound does not confirm the fears, it is better for the woman to repeat the study after a while, or wait for the results of the second screening

Risk assessment

The information received is processed by a program specially created to solve this problem, which calculates the risks and gives a fairly accurate forecast regarding the threat of developing chromosomal abnormalities of the fetus (low, threshold, high). It is important to remember that the resulting transcript of the results is only a forecast, not a final verdict.

Quantitative expressions of levels vary in each country. For us, a value of less than 1:100 is considered a high level. This ratio means that for every 100 births (with similar test results), 1 child is born with a genetic pathology. This degree of threat is considered an absolute indication for invasive diagnostics. In our country, the threshold level is considered to be the risk of having a baby with developmental defects in the range from 1:350 to 1:100.

The threshold level of threat means that the child may be born sick with a risk of 1:350 to 1:100. At a threshold level of threat, the woman is sent to see a geneticist, who gives a comprehensive assessment of the data obtained. The doctor, having studied the parameters and medical history of the pregnant woman, identifies her in the risk group (with a high or low degree). Most often, the doctor recommends waiting until the second trimester screening test is performed, and then, having received a new threat calculation, come back for an appointment to clarify the need for invasive procedures.

The information described above should not frighten expectant mothers, and there is also no need to refuse to undergo first trimester screening. Since most pregnant women have a low risk of carrying a sick baby, they do not require additional invasive diagnostics. Even if the examination showed poor fetal condition, it is better to find out about it in a timely manner and take appropriate measures.

If research has revealed a high risk of having a sick child, the doctor must honestly convey this information to the parents. In some cases, invasive research helps clarify the situation with the fetus's health. If the results are unfavorable, it is better for the woman to terminate the pregnancy early in order to be able to bear a healthy child

If unfavorable results are obtained, what to do?

If it so happens that the analysis of the screening examination indicators of the first trimester revealed a high degree of threat of having a child with a genetic anomaly, first of all, you need to pull yourself together, since emotions negatively affect the gestation of the fetus. Then start planning your next steps.

First of all, it is unlikely to be worth the time and money to undergo re-screening at another laboratory. If the risk analysis shows a ratio of 1:100, you cannot hesitate. You should immediately contact a geneticist for advice. The less time is lost, the better. With such indicators, a traumatic method of confirming the data will most likely be prescribed. At 13 weeks, this will be an analysis of chorionic villus biopsy. After 13 weeks, it may be recommended to perform a cordo- or amniocentesis. Analysis of chorionic villus biopsy provides the most accurate results. The waiting period for results is about 3 weeks.

If the development of chromosomal abnormalities of the fetus is confirmed, the woman will be recommended to have an artificial termination of pregnancy. The decision is, of course, up to her. But if the decision is made to terminate the pregnancy, then the procedure is best performed at 14-16 weeks.