• Screening accurately determines pathologies. Myths and truth about prenatal screening. Standards for screening for hereditary diseases

    03.03.2020

    Along with the onset of pregnancy, a woman hears the word “screening” more than once. Some expectant mothers talk about it with fear, some with irritation, some remain indifferent, not fully delving into the essence. What is screening and why is it surrounded with negativity?

    In fact, it is simply a set of diagnostic procedures that are performed as planned and help make sure that the child is developing correctly. There's nothing wrong with them. Since 2000, all pregnant women have been screened in antenatal clinics.

    Screening in medicine is a set of diagnostic procedures that identify the risks of developing certain pathologies. That is, the results of such an examination indicate a specific disease or factors that will lead to its development.

    Screening is used in various fields of medicine. For example, genetic testing allows you to timely identify diseases transmitted by inheritance. In cardiology, this method is used for early diagnosis coronary disease, arterial hypertension and those factors that increase the risk of developing these pathologies.

    The screening procedure can be carried out in one stage and even consist of one examination, or it can be carried out several times at certain intervals. This method allows doctors to assess the variability of the parameters being studied. Screening is not a mandatory procedure, but it helps prevent the development of diseases or detect them in the early stages, when treatment is more effective and requires less time and financial costs.

    Screening during pregnancy is called perinatal screening. This set of examinations helps determine whether a pregnant woman is at risk for giving birth to children with developmental defects. The likelihood of the unborn child having Down, Patau, Edwards syndrome, neural tube defect, etc. is revealed.

    Perinatal screening is a complex of several diagnostic techniques:

    1. Ultrasound – study of the fetus itself, its structural features, identification of markers of chromosomal abnormalities. This type of examination also includes methods for studying blood flow in the umbilical cord.
    2. Biochemical analysis – determination of the amount of certain proteins in the mother’s blood serum, which indicate the likelihood of fetal pathologies.
    3. Invasive methods (chorionic villus biopsy, amniocentnesis, etc.) are carried out only if, according to biochemical analysis and ultrasound, a high risk of genetic pathologies is identified.

    How to prepare for research and how it is carried out

    Preparing for pregnancy screening depends on what tests will be performed.

    • You need to tune in to positive results and not worry. Stress and emotional tension affect the entire body: they affect the production of hormones and the functioning of internal organs. All this can distort the results.
    • There is no special preparation required for a transvaginal ultrasound, but you will need to bring a condom with you. During an abdominal examination, the bladder should be full, so 25-30 minutes before you need to drink 1-2 glasses of water.
    • You cannot eat 4 hours before the biochemical blood test; the blood sample is taken on an empty stomach.
    • For the next 3 days before the examination, you need to abstain from sexual intercourse.

    Immediately before screening, a woman fills out a questionnaire or answers the doctor’s questions, which clarify general data (age, weight, number of pregnancies and births), as well as the method of conception, the presence of bad habits, chronic and hereditary diseases.

    Examinations during screening are carried out in the same way as usual:

    • Ultrasound . For transvaginal, the sensor is inserted into the vagina; for abdominal, it is placed on the abdomen. The image is displayed on the monitor and allows the doctor to assess the condition of the fetus and take the necessary measurements.
    • Dopplerography . From a certain date, ultrasound is performed together with Doppler ultrasound - a study of the direction and speed of blood flow in the umbilical cord.
    • CTG (cardiotocography) . It is performed in the 3rd trimester and is a type of ultrasound. The sensors are attached to the abdomen, in the place where the fetal heartbeat is best heard. The readings are recorded by equipment and displayed on paper tape. The entire procedure lasts on average 40-60 minutes.
    • Blood chemistry . The sample is taken from a vein using a vacuum tube. Before this procedure, an ultrasound scan is required, as it is important to know the exact stage of pregnancy.

    Indications

    According to the order of the Ministry of Health of the Russian Federation and WHO recommendations, standard three-stage screening during pregnancy is carried out for all women. That is, the process of bearing a child is the only and sufficient indication.

    Sometimes standard screening using ultrasound and biochemical studies is not enough.

    The following women are at risk:

    • who have previously given birth to a child with a chromosomal abnormality;
    • those who have had 2 or more miscarriages in a row;
    • took drugs prohibited for pregnant women in the 1st trimester;
    • having conceived a child from a close relative;
    • having a long-term

    Also at risk are cases where one of the spouses was exposed to radiation shortly before conception. In all these situations, the likelihood of chromosomal disorders and congenital anomalies is higher. If it is confirmed by biochemical analysis and ultrasound, the woman is sent to a medical genetic center for invasive methods (chorionic villus biopsy, amniocentnesis, etc.).

    Are there any contraindications?

    Screening during pregnancy has no contraindications. All standard examination methods are safe.

    But the diagnosis may be canceled due to colds(), any infection, including and. Such conditions distort the results of examinations. Therefore, before undergoing screening, a woman must be examined by a gynecologist. If there is a suspicion of a disease, the pregnant woman is referred to a therapist, infectious disease specialist, ENT specialist or other specialist.

    First screening

    The first screening during pregnancy is carried out from 10 to 14 weeks. First, the doctor does a general examination: measures weight, height, blood pressure, clarifies the presence of chronic diseases and, if necessary, refers for consultation to narrow specialists. At the same time, the woman donates urine and blood to determine the presence of HIV, hepatitis, and syphilis.

    First of all it is carried out. During the procedure, the doctor examines the chorion, the condition of the ovaries, and the tone of the uterus. It also determines the presence of arms and legs in the fetus, the degree of development of the brain and spine. When the gender of future children is determined.

    Genetic research in this case includes measuring the thickness of the neck fold (neck area) and the length of the nasal bone. These indicators provide information about the likelihood of developing Down, Edwards, Patau, and Turner syndromes - the most common chromosomal pathologies.

    Then the pregnant woman is sent for a biochemical blood test - a “double test”.

    The number of 2 indicators is determined:

    • Free beta-hCG. Deviation of this factor up or down increases the likelihood of pathologies in the fetus.
    • PPAP-A. Indicators below normal increase the risk of chromosomal and genetic disorders and pregnancy regression.

    Second screening

    The second screening during pregnancy is carried out from 15 to 20 weeks. Based on its results, the risks identified in the first trimester are confirmed or refuted. And if chromosomal abnormalities cannot be cured, then neural tube defects can be eliminated or minimized. The probability of their detection is 90% (provided that they exist).

    Diagnostics includes:

    • Ultrasound . Performed only abdominally. Fetal anatomy is assessed. The doctor measures the length of the bones of the arms and legs, the volume of the abdomen, chest and head, concludes that skeletal dysplasia is likely. To exclude other pathologies, it studies the structure of the ventricles of the brain, cerebellum, bones of the skull, spine, chest, as well as organs of the cardiovascular system and gastrointestinal tract.
    • Biochemical blood test - “triple test” . The amount of free estriol and AFP are determined. There are standards for the concentration of these substances. The likelihood of neural tube pathologies and certain chromosomal abnormalities is calculated based on a comparison of data from all three indicators. For example, Down syndrome is characterized by increase in hCG, decrease in AFP and free estriol.

    Third screening

    The third screening during pregnancy is performed from 30 to 34 weeks. Risks and complications are assessed and the issue of necessity is decided. In addition, sometimes intrauterine defects are detected that occur in later stages.

    Diagnostic procedures include:

    • Ultrasound . The same study of fetal anatomy is performed as in the second trimester. Amniotic fluid, umbilical cord, cervix, and appendages are also examined. The presence of fetal defects and obstetric complications is determined.
    • Doppler . Blood flow in the umbilical cord and blood vessels of the child, in the placenta and uterus is assessed. Heart defects in the fetus, maturity and functionality of the placenta are detected,
    • CTG . The heart rate and motor activity of the fetus, the tone of the uterus are examined. Disturbances in the functioning of the heart are revealed.

    Risks

    Standard screening during pregnancy, consisting of ultrasound and biochemical studies, does not pose any threat to the woman and her unborn child. Risks from diagnostic procedures are excluded.

    The situation is slightly different with invasive research methods. Since they represent an intervention in the body, the likelihood of miscarriage increases. According to various estimates, during such procedures it ranges from 0.4% with chorionic villus biopsy to 1% with amniocentesis. That is why these examinations are not carried out for everyone, but only if indicated.

    Common Myths

    Fears and negative attitudes towards perinatal screening are based on several myths:

    1. Ultrasound harms the baby. In fact: modern equipment has absolutely no effect on either the woman or the fetus.
    2. The biochemical analysis of the mother's blood is not reliable; many factors influence the indicators. In fact: the procedure determines the content of placental proteins in the blood. Their number practically does not change when exposed to external factors. In addition, when interpreting the results, the woman’s presence of chronic diseases and bad habits is taken into account.
    3. If the woman and her immediate family have good heredity, screening is not needed. In fact: some diseases are passed on through several generations. In addition, a couple of decades ago, diagnostics did not allow detecting abnormalities in the fetus, so the causes of miscarriages were unknown.
    4. What will happen cannot be avoided, and there is no need for unnecessary worries. In fact: some pathologies can be corrected or the risk of their development can be minimized. Diagnostic data reveals the percentage of probability of deviation, but does not guarantee its presence.

    Decoding the results

    The screening results are interpreted by a doctor. When interpreting, the length of pregnancy, the woman’s age, the presence of obstetric and gynecological pathologies, chronic diseases, bad habits, and hereditary diseases in close relatives, including previously born children, are taken into account. In difficult cases, a medical genetic commission is assembled.

    “What I suffered at the first screening is very difficult to describe in words: according to the results of the ultrasound, during which they found that TVP was 3.3 mm, and the results of blood tests in my child “DM: RISK 1:50.” It's not even 1:230! The ground was simply slipping from under my feet: this pregnancy was very long-awaited, and to receive this... - recalls mother of one-year-old Danila Alena. – For three days I cried like a beluga, talked to the baby and every time I asked myself “why?” Then I calmed down and collected myself. I had an internal feeling that everything was fine with my child, and I moved on to action. I signed up for an expert ultrasound in another clinic, where there is more accurate equipment, and as a result it turned out that the first time the studies could not be accurate: the ultrasound machine let us down. As it turns out, blood tests are also not always reliable: the results are greatly influenced by the medications the expectant mother takes, her lack of sleep, age, weight, etc. So I don’t understand: why should a pregnant woman first go through a severe shock, like me, for example, and only then do all these subtleties emerge?!”

    The first trimester of pregnancy is usually not a very calm time in itself. The expectant mother is overcome by concern for the child and the desire to safely overcome the “dangerous period.” Numerous studies and tests, for which she has to get up at six in the morning, are, of course, useful. Both doctors and the woman herself need to make sure that the indicators are normal and that the fetus develops in full accordance with the gestational age. But there are studies that make us seriously worry. The first screening, or screening of the first trimester of pregnancy, according to a survey of expectant mothers, is one of them.

    It helps to “decipher” incomprehensible abbreviations: TVP, SD and reveal the secrets of the first screening, the results of which confuse not only Alena Candidate of Medical Sciences, obstetrician-gynecologist Elena Myazina.

    Why is this necessary?

    If you ask the question on any “pregnant” forum what the first screening is, you can get a wide variety of versions, sometimes truly frightening. So, on one of the forums I received the following answer: “the first screening is an analysis of the uterus.” Need I say that a pregnant woman who has a heightened sense of suspiciousness can be frightened by such a response and encouraged to act rashly? It becomes obvious that this issue needs to be clarified.

    Let's start with the fact that the first screening is a small set of absolutely safe measures for the woman and the fetus, which make it possible to determine in the early stages of pregnancy the risk of developmental defects in the child, calculated as one to a specific number.

    CDF is the first abbreviation you come across, meaning intrauterine malformations. In order to determine their absence or presence, an ultrasound examination and two blood tests are performed. This must be done between 10 and 13 weeks of pregnancy, counted from the first day of the last menstruation and is called the “obstetric period” of pregnancy. Together, these measures can give an idea of ​​how great the risk of developing congenital malformation is in each specific case. An ultrasound and two blood tests are the so-called “double test”, which is carried out to find out how great the risk of having a child with Down syndrome (mental disabilities) or Edwards syndrome (when sick children have physical and mental disabilities and do not live longer after birth) two months). Already at this stage, you can determine whether everything is in order with the development of the future baby’s brain, and try to recognize genetic and chromosomal abnormalities of the fetus. To be fair, it is worth noting that pregnancies with gross anomalies are often terminated on their own even before the “delay”; this is practically “natural selection”. Many pregnant women prefer to undergo an ultrasound of the first trimester in paid clinics, where they have the most modern, most accurate equipment, because some millimeters can deprive the expectant mother of peace of mind for the entire remaining period of pregnancy.

    First trimester screening provides additional information about the health of the unborn child. However, if a defect in the development of the fetus is discovered, doctors will not be able to help: chromosomal abnormalities, unfortunately, cannot be cured with any medications. All the more joyful is the moment when the doctors inform the worried mother that the unborn son or daughter is healthy, is developing well, and all the indicators are like those of an astronaut. So there is no need to be afraid ahead of time. Everything will be fine!

    If the expectant mother is registered at the antenatal clinic, she receives a referral for blood tests related to the first screening studies among other referrals and may not even pay attention to them, then it is impossible to miss coupons for hCG and PAPP.

    That the secret will become clear

    In the first trimester, when conducting screening, there are two important tests: for the content of the free β-subunit of hCG and the mysterious PAPP-A. When receiving results, they look at both their ratio and each separately.

    So, free β-subunit of hCG. Human chorionic hormone is a hormone that the baby secretes into the mother’s body, starting from the moment of attachment in the uterus. This indicator has two “components”: alpha and beta subunits. Typically, if the pregnancy is progressing well, the total hCG released into the blood is very high between 10 and 13 weeks. The concentration of one of the components of total hCG - the free β-subunit of hCG in the blood is much lower, and it is this that contains information for identifying malformations.

    Second analysis - PAPP- A. This is the so-called plasma protein A, which is produced by the outer layer of the placenta during pregnancy. Experts assure that this protein in the “right” amount helps the placenta develop and “survive,” through which everything necessary enters the child’s body. Concentrations of PAPP-A in maternal blood continually increase as pregnancy progresses. At the end of it, this indicator reaches its maximum level. If at the end of the first trimester the PAPP-A results are underestimated several times, then there is a risk of having a child with Down or Edwards syndrome. It is important to do this test up to 14 weeks, later it will lose its relevance.

    A pregnant woman needs to remember that, despite the importance of tests, it is impossible to judge how serious the situation is only by their results. Ultrasound examination is also important. That's why it is a combined screening; every component is important.

    Ultrasonography should be carried out by a competent specialist together with a neonatologist. Try to do this in a medical center - a hospital or clinic with modern equipment. When carrying out this absolutely painless procedure, the following indicators are taken into account: TVP, the presence of nasal bones in the child, their size, CTE, and they also assess the blood flow in the venous duct (how well it functions), note the correct structure of the brain and observe the fetal heart rate.

    Let's start with TVP, or the thickness of the collar space. Or, in other words, cervical transparency and cervical fold. What it is? Experts call cervical translucency the accumulation of subcutaneous fluid on the back of the fetal neck. In other words, a fold on the baby’s neck, filled with fluid at this stage of pregnancy. Its size is very important: if ultrasound is performed with a transvaginal sensor, the TVP should not be more than 2.5 mm. If you are simply moved with a sensor over your tummy, in other words, examined abdominally, the cervical fold should be within 3 mm.

    If the TVP is greater, then in some cases (but not in all!) this may indicate possible abnormalities in the child. Therefore, it is extremely important that the ultrasound machine is extremely accurate. For example, this indicator increases with pathology of the thyroid gland, in particular with hypothyroidism, the predisposition to which is hereditary. If someone in your family suffered from thyroid disease, then you need to know that this disease can be treated quite successfully with replacement therapy. If there are no other violations, then the risk is low. Such children do not lag behind in mental development from healthy peers.

    The next indicator is KTR, or coccyx-parietal size, is the length of the fetus from the crown to the butt. At a period of 10 to 13 weeks, the length of the fetus should be from 30 to 80 mm, depending on the period. The baby's growth should correspond to the gestational age. The brain comb can be examined after 11 weeks.

    Nasal bone definition- no less important indicator of the first screening than all the others. At the end of the first trimester, the nasal bone not defined using ultrasound in 60-70% of fetuses with Down syndrome and only 2% of healthy fetuses.

    Among other things, an ultrasound examination examines blood flow. Abnormalities in the waveform of blood flow in the ductus venosus are found in 80% of fetuses with Down syndrome and only in 5% of chromosomally normal fetuses.

    Based on all the data received and test results, the doctor can draw conclusions about how great the risk of having a sick baby is in each specific case. If any doubts still arise, the pregnant woman will be offered further examination, which, as a rule, is no longer safe for the child. And, as one forum member of mine said: “No matter how well and correctly the screening is done, there is always a 5% margin for error. And then what?!"

    Extreme measures

    “For further examination, such as amniocentesis, cordocentesis or chorionic villus biopsy, pregnant women are sent for whom ultrasound screening or test results have revealed abnormalities in the development of the fetus,” explains obstetrician-gynecologist Elena Myazina. “Also, such examinations are recommended for women who have already had the sad experience of giving birth to a child with congenital malformation or a chromosomal disease, and for mothers whose age exceeds 35 years.”

    The technology for carrying out these procedures is such that to carry out the analysis, material is taken “from the inside,” be it amniotic fluid or chorionic villi, which is then studied in great detail. A contraindication to such a study is the threat of interruption or chronic inflammation in the mother’s body, which can lead to infection of the child.

    The method of “internal” intervention is controversial and unacceptable for some expectant mothers. Such procedures are fraught with consequences for the fetus, which may be absolutely healthy and undeservedly put at risk: although invasive research methods give 100% results, in one case out of 200 they can lead to a miscarriage or disturbances in the development of the baby. Unfortunately, this also happens.

    “I went through this procedure,” shares Alina, the mother of two-year-old hero Petit. - Purely due to my own stupidity. The risk of miscarriage is about 1%. I’ll tell you the feeling – it’s not a pleasant one: disgusting, scary and painful. There was a risk of Down 1:72, I was terribly scared then. And then ten days of waiting, nerves, tears, I was very afraid for the child! My advice to you: if you and your husband are young, not drug addicts or alcoholics, if there were no Downs in your family, forget it.”

    And here’s another thing: “I did amniocentesis under general anesthesia, because I’m very afraid of pain, but I didn’t regret it at all,” says baby Lisa’s mother Irina. “The hardest thing about this procedure is waiting for the results.”

    In such a situation, the position of the mother herself is fundamentally important: is she ready to take risks, because it is fundamentally impossible for her to give birth to a sick child, or she already loves her baby and will not give up on him in any case, then there is no need to take risks accordingly . Doctors will not insist - the choice always remains with the pregnant woman herself.

    It is quite clear that the first screening is an exciting procedure, but certainly necessary. Do not panic ahead of time if something in the tests does not suit your doctor: your baby is worried along with you. It’s better to calmly ask questions to specialists and find the answers you need.

    Prenatal screenings cause a lot of conflicting opinions and reviews. Some are convinced of their necessity, others are confident of their complete inexpediency. What are these tests, and should all pregnant women really undergo them?

    To understand this issue, let’s weigh the pros and cons and separate existing myths from the objective data of scientific medicine.

    is a complex of studies whose main goal is to identify a risk group of pregnant women with possible child developmental defects (such as: Down syndrome, Edwards syndrome, neural tube defects (anencephaly), Cornelia de Lange syndrome, Smith Lemli Opitz syndrome, triploidy, Patau syndrome ). The expectant mother is sent for prenatal screening twice during pregnancy - in the first (11-13 weeks) and in the second trimester (18-21 weeks). And, despite the fact that screenings include only two fairly proven diagnostic methods - a biochemical blood test and ultrasound, their reliability and safety still cause a lot of controversy.

    Argument against No. 1: Ultrasound examination harms the baby

    There is a fairly widespread opinion that ultrasound negatively affects the child’s nervous system and irritates him - during the examination, children often try to hide from the machine and cover their heads with their hands. Therefore, children whose mothers regularly had ultrasound scans during pregnancy are more restless compared to babies whose mothers refused ultrasound diagnostics. Is it really?

    According to doctors, ultrasound cannot cause any harm to the baby - modern equipment is absolutely safe. Therefore, official medicine insists that absolutely all pregnant women undergo an ultrasound. After all, timely diagnosis allows, firstly, to see the full picture of the course of pregnancy, and secondly, if necessary, to correct certain problems.

    An ultrasound examination is performed at least three times during pregnancy (in the first trimester at 11-13 weeks, in the second at 18-21 and in the third at 30-32 weeks), but if necessary, the doctor may recommend it be done more often.

    The data obtained from the ultrasound of the first prenatal screening (at 11-13 weeks of pregnancy) are considered especially important. At this time during the study:
    the number of embryos in the uterus and their viability are determined;
    a more accurate gestational age is set;
    gross malformations are excluded;
    the thickness of the collar space is determined - TVP (that is, the amount of subcutaneous fluid on the back surface of the child’s neck is measured - normally TVP should not exceed 2.7 mm);
    The presence or absence of the nasal bone is examined.

    For example, in children with Down syndrome, the fluid content is much higher than normal, and the nasal bone is often not visualized.

    Argument against No. 2: biochemical blood test gives unreliable results

    Many mothers are sure that it is impossible to draw any reliable conclusions from one analysis - too many factors can affect the result. And, in part, they are really right. However, you need to take a closer look at the analysis process in order to understand on what basis the doctor makes his conclusion.

    A biochemical analysis is carried out to determine the level of specific placental proteins in the blood. During first screening done "double test"(that is, the level of two proteins is determined):
    PAPPA (“pregnancy associated plasma protein” or pregnancy-associated plasma protein A);
    free beta subunit of hCG (human chorionic gonadotropin).

    Changes in the level of these proteins indicate the risk of the fetus having various chromosomal and some non-chromosomal disorders. However, identifying an increased risk does not mean that there is something wrong with the baby. Such indicators are only a reason for more careful monitoring of the course of pregnancy and the development of the child. As a rule, if the first trimester screening results in an increased risk for any indicators, the expectant mother is asked to wait for the second screening. In case of serious deviations from the norm, the woman is referred for consultation to a geneticist.

    Carrying out second screening occurs between 18-21 weeks of pregnancy. This study includes "triple" or "quadruple test". Everything happens the same as in the first trimester - the woman takes a blood test again. Only in this case, the results of the analysis are used to determine not two, but three (or, accordingly, four) indicators:
    free beta subunit of hCG;
    alphafetoprotein;
    free estriol;
    in the case of a quadruple test, also inhibin A.

    As in the first screening, the interpretation of the results is based on the deviation of the indicators from the average statistical norm according to certain criteria. All calculations are carried out using a special computer program, after which they are carefully analyzed by a doctor. In addition, when analyzing the results, many individual parameters are taken into account (race, presence of chronic diseases, number of fetuses, body weight, bad habits etc.), since these factors can influence the value of the studied indicators.

    In order to obtain the most reliable screening results, it is imperative to compare the data from the first and second trimester studies together.

    If, as a result of studies of the first and second trimester, any abnormalities in the development of the fetus are revealed, the woman may be offered to undergo repeated screening or immediately referred to a geneticist for consultation. If necessary, he may order additional tests to make a more accurate diagnosis (for example, amniotic fluid, chorionic villus biopsy). However, due to the fact that these studies are not entirely safe and can cause various complications during pregnancy (provoke miscarriage, development of group or Rh conflict, infection of the fetus, etc.), they are prescribed only in case of a high risk of pathology. However, such complications do not occur so often - in 1-2% of cases. And, of course, all research is carried out only with the consent of the expectant mother.

    Thus, the first two arguments “against”, from the point of view of scientific medicine, are not convincing, and rather they should be reformulated into arguments “for”: Prenatal screenings are completely safe for the expectant mother and her baby, and all conclusions are made by the doctor taking into account a whole range of individual factors.

    Argument against No. 3: “I have good heredity - I don’t need screenings”

    Some mothers do not see the point of undergoing screenings - all relatives are healthy, what problems could there be? Indeed, there are certain groups of women who are first recommended to undergo testing to identify possible pathologies in the development of the child. These are women over 35–40 years old (since after this age the risk of developing abnormalities in a child increases several times) and expectant mothers with certain diseases (for example, diabetes). Of course, those mothers whose families already have children or relatives with genetic diseases are also at risk. However, the majority of doctors (not only in Russia, but also in many European countries and America) are of the opinion that all women should undergo prenatal screening, especially if this is their first pregnancy.

    Argument against No. 4: “I’m afraid of hearing a bad diagnosis”

    This is perhaps one of the strongest arguments against screening. Expectant mothers are very frightened by the possibility of hearing something bad about the baby’s development. In addition, medical errors are also a concern - sometimes screenings give false positive or false negative results. There are cases when the mother was told that the child was suspected of having Down syndrome, and subsequently a healthy baby was born. Of course, needless to say, such news greatly affects emotional state moms. After the “terrible verdict” is pronounced, the woman spends the rest of her pregnancy in constant worries, but this is also not at all beneficial for the baby’s health.

    However, do not forget that all the results of prenatal screenings in no way serve to make a diagnosis. They only identify probable risks. Therefore, even a positive screening result will not be a “sentence” for the child. This is just a reason to get professional advice from a geneticist.

    Argument against No. 5: Potentially identified possible deviations it is impossible to correct the child's development

    This is true - there is no way to cure or correct chromosomal disorders. Therefore, impressionable and vulnerable mothers, as well as women who are determined to maintain their existing pregnancy under any circumstances, may only receive another reason for worry as a result of the screenings they have undergone. Maybe it really is the best way out in such a situation, there will be a refusal of research so that the mother can calmly wait for the birth of the baby.

    Another argument in favor

    And yet, the undoubted advantage of prenatal screenings is the opportunity to obtain information about the development of the child at a fairly early stage of pregnancy, go for a consultation with a geneticist, and undergo, if necessary, all additional examinations. After all, having complete data, the expectant mother can quite consciously make a decision on the further development or termination of pregnancy.

    The most important argument against: the poor health of the expectant mother at the time of the study

    Any, even slight, increase in body temperature, colds (acute respiratory infections, acute respiratory viral infections), any other viral or infectious diseases and even stress are a clear contraindication for screening. After all, each of these factors can distort analysis data. That is why, before going to donate blood, the expectant mother must undergo an examination by a gynecologist - the doctor will assess her general condition.

    Today, prenatal screenings are not strictly mandatory, but most doctors are confident in the need for these studies. The right to make a decision remains with the mother, so after weighing all the pros and cons, each woman will make a choice - for some it is important to control the situation and receive all possible information as early as possible, while for others it is much calmer to make do with only the mandatory minimum examinations, just enjoy your pregnancy and believe in the best.

    magazine for parents “Raising a Child”, October 2012

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