Prenatal screenings in pregnancy. Prenatal screenings during pregnancy Are there any risks in the study

When pregnancy occurs, expectant mothers begin to be overcome by fear: is everything all right with the baby? Fortunately, modern diagnostic methods allow early detection of fetal developmental disorders. There is such a thing as prenatal screening. This is nothing more than a set of instrumental and laboratory research methods designed to identify the risk of developing congenital pathologies.

Table of contents:

Screening indications

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There is a certain list of laboratory tests that all pregnant women should undergo. Prenatal screening is not mandatory for everyone, but only for those women who are at particular risk for congenital anomalies.

So, screening should be done in such cases:

  1. Pregnant over 35 years old;
  2. If the family already has children with chromosomal abnormalities;
  3. Obstetric history of two or more miscarriages;
  4. If in the first trimester a woman took medications prohibited during pregnancy;
  5. The child's parents are close relatives;
  6. If the parent underwent a course of radiation before conceiving a child;
  7. The threat of abortion.

Screening studies are carried out in each trimester. Conducting research in the first and second trimesters is of the greatest importance.

1st trimester screening

The first screening is a screening done in the first trimester. The most acceptable timing is 10-13 weeks of pregnancy. The first screening allows you to identify congenital malformations at an early stage.

Screening in the first trimester includes:

  • fetal ultrasound;
  • Biochemical study of blood.

Ultrasound of the fetus in the first trimester

Allows you to determine the location of organs, the length of the body of the fetus, head circumference, measure the thickness of the neck fold, coccygeal-parietal size.

The coccygeal-parietal size (KTR) is the length measured from the coccyx to the parietal region of the skull. If, during an ultrasound scan, the specialist determined that the CTE is less than expected, this may indicate:

  • Incorrectly calculated gestational age;
  • Violation of the development of the fetus as a result of hormonal, infectious diseases of the mother;
  • The presence of a genetic pathology;
  • Incorrect position of the fetus, which does not allow to fully measure the distance.

Measurement of such an indicator as biparietal size (BDP) allows you to study the formation of the brain. Biparietal size is the distance from one temple to another. A decrease in BDP indicates an underdevelopment of the brain, and an increase indicates dropsy of the brain.

Chorionic gonadotropin has two fractions: alpha and beta. For the diagnosis of congenital pathology, the determination of the level of beta-hCG is of the greatest importance. A decrease in hCG below the normal level is observed with ectopic pregnancy, placental pathology, Edwards syndrome. And an increase in hCG may indicate:

  1. Multiple pregnancy;
  2. Genetic diseases of the fetus.

Determination of plasma protein PAPP-A produced from the 8th week of pregnancy. It is noteworthy that the definition of this indicator after the 14th week is no longer so reliable.

A decrease in PAPP-A in comparison with normal values ​​characteristic of a certain period of pregnancy indicates:

  • Chromosomal abnormalities of the fetus;
  • The threat of miscarriage.

It should be noted that an increase in plasma hormone may also indicate the presence of fetal developmental disorders.

Second screening during pregnancy

Screening in the second trimester, first of all, is carried out to confirm or refute the results of the first screening, as well as when indicated. The second screening is recommended to take place at the 16-20th week of pregnancy.

Pregnant women carry out such studies:

  • Biochemical study of the fetus (hCG, AFP, estriol).

Ultrasound of the fetus in the second trimester

The need for ultrasound in the second trimester is dictated by the fact that important functional systems have already formed during this period, the study of which will allow us to assess the development of the child. Ultrasound helps to study:

  • Proper formation of the spine, limbs;
  • The length of the nasal bone;
  • Dimensions of brain structures;
  • Functioning of internal organs;
  • The main parameters of the child;
  • The size and structure of the placenta;
  • The size of the cervix;
  • Amniotic fluid level;
  • fetal heart rate;
  • The length of the umbilical cord;
  • The condition of the appendages of a pregnant woman.

Examination of the placenta allows the doctor to determine its location. Normally, the placenta is located on the back wall of the uterus, approximately 6-8 cm above the internal os. If it is located at the bottom of the uterus and closes the internal pharynx, this is a deviation from the norm.

Alpha-fetoprotein (AFP) is a protein synthesized by the fetal liver. The substance enters the mother's body through the placenta, making it possible to determine its concentration by examining the venous blood of the pregnant woman.

A low ACE level is observed when:

  • Down syndrome;
  • Edwards syndrome;
  • Vesical skid;
  • Fetal death.

A high concentration of alpha-fetoprotein may indicate:

  • Hernia in the navel;
  • Abnormal formation of the neural tube of the fetus;
  • Abnormal formation of the esophagus or duodenum;
  • Meckel syndrome.

What to do if the results are not satisfactory?

First of all, it is worth noting that screening is a complex study. And this means that if one of the results is unsatisfactory, and the rest are normal, this does not indicate the presence of pathology. Moreover, even if the results in the aggregate are unsatisfactory, this does not mean that the child is 100% likely to be born sick. Screening allows you to assess only the likelihood of developing a pathology in a particular child.

If the doctor deems it necessary, he will refer the woman to a geneticist. With a high risk of congenital pathologies, the pregnant woman is sent for amniocentesis or a chorionic villus biopsy. Amniocentesis allows a specialist to detect the presence of congenital and hereditary diseases by examining the amniotic fluid.

A chorionic villus biopsy also reveals chromosomal pathologies and genetic diseases.

Remember: the doctor makes a conclusion about the risk of having a baby with a pathology based on the results of all screening studies. Having received an unsatisfactory result in your hands, in no case should you panic. The doctor will recommend to undergo additional studies, the results of which can refute all worries about the child's health.

Grigorova Valeria, medical commentator

Description

Method of determination See individual tests

Material under study Serum

The test is performed for a screening examination of pregnant women in order to assess the risk of fetal chromosomal abnormalities: trisomy 21 (Down syndrome) and trisomy 18, 13 (Edwards syndrome, Patau syndrome). Quantification of research results is carried out using PRISCA software.

Attention! For this study, the results of ultrasound are required!

Biochemical screening of the first trimester of pregnancy "double test" of the first trimester consists of the following studies:

  1. Free b-subunit of human chorionic gonadotropin (free b-hCG, free b-hCG), test No. 189;
  2. PAPP-A (pregnancy associated protein A, plasma protein A associated with pregnancy), test No. 161.

The optimal time for the study is 11-13 weeks of pregnancy.

Conducting a comprehensive examination at a period of 11-14 weeks of pregnancy, including ultrasound and determination of maternal serum markers (free beta-subunit of hCG and PAPP-A), followed by a complex software calculation of the individual risk of having a child with a chromosomal pathology, is recommended for all pregnant women by order of the Ministry of Health RF dated November 01, 2012 No. 572n (“Procedure for the provision of medical care in the field of obstetrics and gynecology”).

PRISCA (developed by Typolog Software, distributed by Siemens) is an EU-certified (CE-certified) and registered for use in the Russian Federation program that supports risk calculation for screening examinations of the 1st and 2nd trimesters of pregnancy. Risks are calculated using a combination of informative biochemical markers (in the 1st trimester - free beta-subunit of hCG and PAPP) and ultrasound indicators (thickness of the fetal collar space of the TVP, visualization data of the nasal bone). The accuracy of the indicated individual data, the qualifications of the ultrasound provider in performing prenatal screening ultrasound measurements, and the quality of laboratory tests are essential for correct calculations.

Preparation

It is preferable to take blood in the morning on an empty stomach, after 8-14 hours of a night fasting period (you can drink water), it is permissible in the afternoon 4 hours after a light meal.

On the eve of the study, it is necessary to exclude increased psycho-emotional and physical activity (sports training), alcohol intake, an hour before the study - smoking.

Screening of the first trimester is optimal at 11-13 weeks, the second trimester - at 16-18 weeks. 1st trimester ultrasound data can be used to calculate risk in 2nd trimester biochemical screening. General recommendations for preparing for research can be found.

Indications for appointment

Prenatal screening of pregnant women at 11-14 weeks of gestation to assess the risk of trisomy 21 (Down syndrome) and trisomy 13/18.

Special indications for the appointment of screening studies to identify the risk of fetal chromosomal abnormalities are:

  • the woman's age is over 35;
  • the presence in the family of a child (or in the anamnesis - the fetus of an interrupted pregnancy) with genetically confirmed Down's disease, other chromosomal diseases, congenital malformations;
  • hereditary diseases in close relatives;
  • radiation exposure or other harmful effects on one of the spouses before conception.

To complete the study, you must fill out.

Interpretation of results

The interpretation of test results contains information for the attending physician and is not a diagnosis. The information in this section should not be used for self-diagnosis or self-treatment. An accurate diagnosis is made by the doctor, using both the results of this examination and the necessary information from other sources: history, results of other examinations, etc.

The results of the survey are issued in the form of a report form. It indicates the data used in the calculations, provides the results of the studies, adjusted values ​​of MoM. In the conclusion, quantitative risk assessment indicators for trisomy 21 (Down syndrome) and trisomy 13/18 (Patau syndrome and / or Edwards syndrome) are indicated, which reflect the frequency of occurrence of the corresponding types of pathology with similar examination results and individual data. For example, a risk ratio of 1:6250 means that the statistical probability of having a child with the corresponding pathology is one in 6250 pregnancies with similar individual data. The PRISCA program has set conditional thresholds for identifying a high-risk group - a frequency above 1/250 for trisomy 21 (Down's syndrome) and above 1/100 for trisomy 13/18.

The results of calculating the risk of fetal chromosomal abnormalities based on screening biochemical studies and ultrasound indicators are only statistical probabilistic indicators that are not the basis for making a diagnosis, but may serve as an indication for the appointment of further special research methods. According to the current recommendations of the Ministry of Health of the Russian Federation, when a pregnant woman is found to have a high estimated risk of chromosomal abnormalities in the fetus (individual risk of 1/100 and higher), the obstetrician-gynecologist sends her to a medical genetic consultation (center) for medical genetic counseling and establishing or confirmation of the diagnosis using invasive examination methods to establish the fetal karyotype.

The use of complex (ultrasound of TVP + biochemical tests) screening, according to a number of studies, makes it possible to detect Down syndrome in the fetus in the first trimester of pregnancy in 85-90% of cases with 5% of false positive results. Comprehensive screening helps to identify not only the risk of a fetal chromosomal abnormality, but also the overall risk of pregnancy pathology.

Screening is mandatory for every pregnant woman - a diagnostic complex that allows to identify severe malformations of the embryo or its genetic pathologies in the early stages of pregnancy. Screening of the first trimester involves an ultrasound of the fetus and a biochemical blood test.

You can go through prenatal screening from the first day of the 10th obstetric week of pregnancy until the 6th day of the 13th week. Usually, expectant mothers are sent for research in the period of 11-12 weeks with a slight adjustment for the accuracy of the period. Only during this period can the most reliable data on the state of the embryo be obtained, since some of the most important indicators of its development cannot be calculated after the 14th week of pregnancy.

Who is screening?

This procedure is necessary for all, without exception, women who are carrying a child. A pregnant woman has the right to refuse to conduct it, but this is not advisable due to the fact that there are certain risks and features of the course of pregnancy, which the observing doctor and the woman herself should be aware of.

There are risk groups that must undergo prenatal screening without fail:

  • a history of spontaneous miscarriage, frozen or regressing pregnancy;
  • all pregnant women over 34 years of age;
  • the presence of bad habits in a pregnant woman or the father of an unborn child;
  • the presence of risk factors for miscarriage in the early stages;
  • patients who have had ARVI or other infectious diseases in the early stages, as well as the use during this period of medications that are prohibited or not recommended during pregnancy;
  • the presence of occupational hazards;
  • hereditary pathologies in the family;
  • if a woman already has a child with developmental anomalies or in the early stages of previous pregnancies, screening has established malformations or other developmental abnormalities.

What does ultrasound show and is it necessary to prepare for it?

No, no special preparation is required for this procedure. Previously, when examining transabdominally, a woman was warned about the need to fill her bladder before an ultrasound. Modern ultrasound equipment makes it possible not to adhere to this condition, therefore, when undergoing a transvaginal or transabdominal procedure, special preparation is not provided.

Ultrasound at 11-13 weeks allows you to evaluate the following indicators of embryo development:

  • head circumference;
  • the distance at which the parietal burrs are located;
  • structure and symmetry of the cerebral hemispheres;
  • the distance between the coccyx and the parietal bone;
  • the distance between the occipital and frontal bones;
  • the length of the bones of the lower leg and forearm;
  • length of the femur and humerus;
  • collar space thickness;
  • the location and size of large vessels and the heart;
  • heart rate;
  • location of the stomach.

Prenatal screening allows you to judge the presence or absence of the following pathologies in the embryo:

1. Syndromes of Down, Smith-Opitz, Edwards, Cornelia de Lange, Patau.

2. Meningocele, encephalocele and other anomalies in the structure of the neural tube.

3. Omphalocele, in which some of the internal organs are located in the hernial sac.

4. Triploidy - multiple malformations that have arisen against the background of a genetic anomaly.

Screening can detect an ectopic, missed, or regressing pregnancy. The study allows you to visualize the state of the uterus and assess the course of pregnancy. Ultrasound screening shows the following characteristics:

The amount of water

The presence of uterine hypertonicity (or its absence);

thickness and location of the placenta;

The number of vessels in the umbilical cord.

Biochemical screening

It is carried out only after receiving the results of the ultrasound, but in the same period in which the ultrasound examination is allowed - 11-13 weeks. Blood from a vein is taken in the morning on an empty stomach, a few days before that, doctors recommend sticking to a hypoallergenic diet so that the results of the analysis are correct.

Important elements of assessment in biochemical screening are:

β-hCG - a hormone produced by the "shell" of the embryo;

PAPP-A is a protein produced by the placenta.

If these indicators deviate from the norm, the risk of the following pathologies increases:

Syndromes of Down, Cornelia de Lange and Edwards;

premature termination of pregnancy;

placental insufficiency;

· ectopic pregnancy.

The timely passage of these studies in compliance with the necessary rules will allow you to learn in the early stages about the existing developmental anomalies in the fetus and the characteristics of the course of pregnancy.

Screening of the first trimester in Chelyabinsk

In Chelyabinsk, screening of the 1st trimester can be done at the multidisciplinary medical center "HYMENEY". Screening 1 is a thorough prenatal diagnosis, which is carried out by competent specialists using modern equipment.

Screening of the 1st trimester is a diagnostic study that is carried out by pregnant women at risk from 10 to 14 weeks. Being the first of two screening observations, it allows you to determine with great accuracy how high the risk of having a sick fetus is. Such an examination consists of two parts - blood donation from a vein and ultrasound. Based on them, taking into account many of your individual factors, the geneticist makes his verdict.

Screening (from the English "screening") is a concept that includes a number of activities to detect and prevent diseases. For example, screening during pregnancy provides the doctor with complete information about the various risks of pathologies and complications in the development of the child. This makes it possible to take full measures in advance to prevent diseases, including the most severe ones.

Who needs 1st trimester screening

It is very important that the following women undergo the study:

  • consanguineous with the child's father
  • who have had 2 or more spontaneous abortions (premature births)
  • had a missed pregnancy or stillbirth
  • a woman had a viral or bacterial disease during pregnancy
  • have relatives suffering from genetic pathologies
  • this couple already has a child with Patau, Down syndrome or other
  • there was an episode of treatment with drugs that should not be used during pregnancy, even if they were prescribed for vital signs
  • pregnant over 35 years
  • both future parents want to check the probability of having an affected fetus.

What to look for at the first ultrasound screening during pregnancy

What is seen at the first screening? The length of the embryo is estimated (this is called the coccygeal-parietal size - KTP), the dimensions of the head (its circumference, biparietal diameter, the distance from the forehead to the back of the head).

The first screening shows the symmetry of the cerebral hemispheres, the presence of some of its structures, which are mandatory at this time. Look at 1 screening also:

  • long tubular bones, the length of the shoulder, femur, bones of the forearm and lower leg is measured
  • whether the stomach and heart are in certain places
  • the size of the heart and the vessels emanating from them
  • belly sizes.

What pathology does this examination reveal?

The first pregnancy screening is informative in terms of detecting:

  • pathology of the rudiment of the central nervous system - the neural tube
  • patau syndrome
  • omphalocele - umbilical hernia, when a different number of internal organs are outside the abdominal cavity, and in the hernial sac above the skin
  • down syndrome
  • triploidy (triple set of chromosomes instead of double)
  • Edwards syndrome
  • Smith-Opitz syndrome
  • de Lange syndrome.

Terms of the study

When should the first screening be done? The terms of diagnosis of the 1st trimester are very limited: from the first day of the 10th week to the 6th day of the 13th week. It is better to do the first screening in the middle of this range, at 11-12 weeks, since an error in the calculations significantly reduces the correctness of the calculation.

Your doctor should once again scrupulously and thoroughly, depending on the date of the last menstruation, calculate at what time you should do the first study of this kind.

How to prepare for research

Screening of the first trimester is carried out in two stages:

  1. The first step is an ultrasound screening. If this is to be done transvaginally, no preparation is required. If in the abdominal way, then it is necessary that the bladder is full. To do this, you need to drink half a liter of water half an hour before the study. By the way, the second screening during pregnancy is carried out transabdominally, but it does not require preparation.
  2. Biochemical screening. This word refers to the drawing of blood from a vein.

Given the two-stage nature of the study, preparation for the first study includes:

  • bladder filling – before 1 ultrasound screening
  • fasting at least 4 hours before blood sampling from a vein.

In addition, you need a diet before the diagnosis of the 1st trimester in order for the blood test to give an accurate result. It consists in excluding the intake of chocolate, seafood, meat and fatty foods the day before you plan to attend a screening ultrasound during pregnancy.

If you plan (and this is the best option for perinatal diagnostics of the 1st trimester) to undergo both ultrasound diagnostics and donate blood from a vein on the same day, you need to:

  • the whole previous day to deny yourself allergenic foods: citrus fruits, chocolate, seafood
  • exclude completely fatty and fried foods (1-3 days before the study)
  • before the study (usually blood is taken for screening for 12 weeks before 11:00) go to the toilet in the morning, then either do not urinate for 2-3 hours, or drink half a liter of water without gas an hour before the procedure. This is necessary if the study will be performed through the abdomen
  • if ultrasound diagnostics is done with a vaginal probe, then preparation for 1st trimester screening will not include filling the bladder.

How the study is done

How is a study for malformations done in the 1st trimester?

It, like the 12-week examination, consists of two stages:

  1. Ultrasound screening during pregnancy. It can be performed both vaginally and through the abdomen. It feels no different from an ultrasound at 12 weeks. The difference is that it is performed by sonologists, who specialize specifically in prenatal diagnostics, using high-class equipment.
  2. Blood sampling from a vein in the amount of 10 ml, which should be done on an empty stomach and in a specialized laboratory.
How is the screening diagnosis of the 1st trimester? First, you go through the first ultrasound during pregnancy. It is usually performed transvaginally.

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Detailing of ultrasonic dopplerography (UZDG) of pregnant women

To perform the study, you will need to undress below the waist, lie on the couch, bending your legs. The doctor will insert a thin special sensor in a condom very carefully into your vagina, and during the examination they will move it a little. It doesn't hurt, but you may find a small amount of spotting on the pad the next day or the next day.

On the video 3d ultrasound during pregnancy at the screening of the 1st trimester. How is the first transabdominal probe screening done? In this case, you either undress to the waist, or simply lift your clothes so that your stomach is exposed for examination. With such an ultrasound screening of the 1st trimester, the sensor will move along the abdomen without causing pain or discomfort. How is the next stage of the examination carried out? With the results of the ultrasound, you go to donate blood. In the same place, you will clarify some data that are important for the correct interpretation of the results.

You will not receive results immediately, but after a few weeks. This is how the first pregnancy screening takes place.

Deciphering the results

1. Normal ultrasound data

Deciphering the first screening begins with the interpretation of ultrasound diagnostic data. Ultrasound rules:

Coccyx-parietal size (KTR) of the fetus

At screening at 10 weeks, this size is in the following range: from 33-41 mm on the first day of week 10 to 41-49 mm on day 6 of week 10.

Screening 11 weeks - KTR norm: 42-50 mm on the first day of the 11th week, 49-58 - on the 6th day.

During pregnancy of 12 weeks, this size is: 51-59 mm at 12 weeks exactly, 62-73 mm - on the last day of this period.

2. Thickness of collar area

Norms of ultrasound of the 1st trimester in relation to this most important marker of chromosomal pathologies:

  • at 10 weeks - 1.5-2.2 mm
  • screening 11 weeks is represented by the norm 1.6-2.4
  • at week 12, this figure is 1.6-2.5 mm
  • at 13 weeks - 1.7-2.7 mm.

3. Nasal bone

Deciphering ultrasound of the 1st trimester necessarily includes an assessment of the nasal bone. This is a marker due to which the development of Down syndrome can be assumed (for this, screening of the 1st trimester is done):

  • at 10-11 weeks, this bone should already be detected, but its size has not yet been estimated
  • screening at 12 weeks or a week later shows that this bone is at least 3 mm normal.

4. Heart rate

  • at 10 weeks - 161-179 beats per minute
  • at 11 weeks - 153-177
  • at 12 weeks - 150-174 beats per minute
  • at 13 weeks - 147-171 beats per minute.

5. Biparietal size

The first screening study during pregnancy evaluates this parameter depending on the term:

  • at 10 weeks - 14 mm
  • in 11 - 17 mm
  • screening at 12 weeks should show a result of at least 20 mm
  • at 13 weeks BPD is 26 mm on average.

According to the results of ultrasound of the 1st trimester, it is assessed whether there are any markers of fetal abnormalities. It also analyzes what period the development of the baby corresponds to. At the end, a conclusion is made whether the next screening ultrasound in the second trimester is necessary.

You can ask to have a 1st trimester ultrasound video recorded for you. You also have every right to receive a photo, that is, a printout of the image that is either the most successful (if everything is normal), or most clearly demonstrates the found pathology.

What hormone norms are determined by 1 screening

First trimester screening does not only evaluate the results of ultrasound diagnostics. The second, no less important stage, by which it is judged whether the fetus has serious defects, is a hormonal (or biochemical) assessment (or a blood test in the 1st trimester). Both of these steps constitute genetic screening.

1. Chorionic gonadotropin

This is the hormone that colors the second strip on a home pregnancy test. If the first trimester screening revealed a decrease in its level, this indicates a pathology of the placenta or an increased risk of Edwards syndrome.

Elevated hCG at the first screening may indicate an increased risk of developing Down syndrome in the fetus. Although with twins, this hormone is also significantly increased.

The first screening during pregnancy: the rate of this hormone in the blood (ng / ml):

  • Week 10: 25.80-181.60
  • 11 weeks: 17.4-130.3
  • decoding of the perinatal study of the 1st trimester at week 12 regarding hCG shows the figure 13.4-128.5 is normal
  • at 13 weeks: 14.2-114.8.

2. Pregnancy-associated protein A (PAPP-A)

This protein is normally produced by the placenta. Its concentration in the blood increases with increasing gestational age.

How to make sense of the data

The program, into which the data of ultrasound diagnostics of the first trimester, as well as the level of the two above hormones, is entered, calculates the analysis indicators. They are called "risks". At the same time, the transcript of the results of screening for the 1st trimester is written in the form not in the level of hormones, but in such an indicator as “MoM”. This is a coefficient that shows the deviation of the value for a given pregnant woman from a certain calculated median.

To calculate MoM, divide the indicator of a particular hormone by the median value calculated for a given area for a given gestational age. MoM norms at the first screening are from 0.5 to 2.5 (for twins, triplets - up to 3.5). The ideal MoM value is close to "1".

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The MoM indicator is affected by age-related risk during screening of the 1st trimester: that is, the comparison is not just with the calculated median at this gestational age, but with the calculated value for the given age of the pregnant woman.

Intermediate results of the first trimester screening normally indicate the amount of hormones in units of MoM. So, the form contains the entry "hCG 2 MoM" or "PAPP-A 1 MoM" and so on. If MoM is 0.5-2.5, this is normal.

Pathology is the level of hCG below 0.5 median levels: this indicates an increased risk of Edwards syndrome. An increase in hCG above 2.5 median values ​​indicates an increased risk of Down syndrome. A decrease in PAPP-A below 0.5 MoM suggests that there is a risk in relation to both of the above syndromes, but its increase does not mean anything.

Are there any risks in the study

Normally, the results of the diagnosis of the 1st trimester end with a risk assessment, which is expressed as a fraction (for example, 1:360 for Down syndrome) for each syndrome. It is this fraction that reads like this: in 360 pregnancies with the same screening results, only 1 baby is born with Down's pathology.

Deciphering the norms of screening of the 1st trimester. If the child is healthy, the risk should be low and the screening test result should be described as "negative". All numbers after the fraction must be large (greater than 1:380).

A poor first screening is characterized by a high-risk report, a level of 1:250-1:380, and hormone results of less than 0.5 or more than 2.5 median values.

If the 1st trimester screening is poor, you are asked to visit a geneticist who decides what to do:

  • appoint you a second study in the second, then screening for the 3rd trimester
  • offer (or even insist) on an invasive diagnosis (chorionic villus biopsy, cordocentesis, amniocentesis), on the basis of which the question will be decided whether this pregnancy should be prolonged.

What influences the results

As with any study, there are false-positive results from the first perinatal study. So, when:

  • IVF: hCG results will be higher, PAPP - lower by 10-15%, first screening ultrasound results will increase LZR
  • obesity of the expectant mother: in this case, the levels of all hormones increase, while with low body weight, on the contrary, they decrease
  • 1st trimester screening for twins: normal outcomes for such pregnancies are not yet known. Therefore, risk assessment is difficult; Only ultrasound diagnostics is possible
  • diabetes mellitus: 1st screening will show a decrease in hormone levels, which is not reliable for interpreting the result. In this case, pregnancy screening may be canceled.
  • amniocentesis: the rate of perinatal diagnosis is not known if the manipulation was carried out within the next week before blood donation. It is necessary to wait a longer period after amniocentesis before undergoing the first perinatal screening of pregnant women.
  • psychological state of the pregnant woman. Many write: "I'm afraid of the first screening." This can also affect the result, and unpredictably.

Some features in pathology

The first pregnancy screening for fetal pathology has some features that ultrasound doctors see. Consider perinatal screening of trisomies as the most common pathologies detected by this examination.

1. Down syndrome

  1. most fetuses do not see the nasal bone at 10-14 weeks
  2. from 15 to 20 weeks this bone is already visualized, but it is shorter than normal
  3. smoothed facial contours
  4. with dopplerometry (in this case it is possible to carry out it even at this time), a reverse or other pathological blood flow in the venous duct is noted.

2. Edwards syndrome

  1. tendency to decrease heart rate
  2. have an umbilical hernia (omphalocele)
  3. no visible bones of the nose
  4. instead of 2 umbilical arteries - one

3. Patau Syndrome

  1. almost everyone has a rapid heartbeat
  2. impaired brain development
  3. the development of the fetus is slowed down (discrepancy between the length of the bones for the term)
  4. impaired development of certain parts of the brain
  5. umbilical hernia.

Where to take the study

Where is 1st trimester screening done? Many perinatal centers, medical genetic consultations and private clinics are involved in this study. To choose where to get screened, see if there is a laboratory in the clinic itself or near it. It is recommended to take it in such clinics and centers.
For example, in Moscow, the CIR has proven itself well: it also conducts screening of the 1st trimester at this Center.

Ultrasound screening of the 1st trimester: the average price is 2000 rubles. The cost of the first perinatal examination (with the determination of hormones) is about 4000-4100 rubles.

How much does screening for the 1st trimester cost by type of analysis: ultrasound - 2000 rubles, hCG determination - 780 rubles, analysis for PAPP-A - 950 rubles.