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To be or not to be, this is the decision a woman makes when, based on screening results, she learns about the high risk of having a baby with disabilities. So what is this screening and why do many women wait with fear for its results, and on their basis often make decisions about terminating their pregnancy? I studied this topic at one time and want to share the information that I have. Screening in the first trimester of pregnancy is a set of diagnostic tests used in pregnant women at a certain stage of pregnancy to identify gross malformations of the fetus, as well as the presence or absence of indirect signs of pathologies fetal development or genetic abnormalities. Perinatal screening is carried out to identify the likelihood of having a child with pathologies such as Down syndrome (an extra chromosome in the 21st pair), Edwards syndrome (an extra chromosome in the 18th pair) and Patau syndrome (an extra chromosome in the 13th pair). A screening examination does not provide a 100% guarantee that a child will not have pathologies. It only provides a probability value. For example, screening showed that the risks are low relative to your indicators, but this does not mean that they are absolutely excluded. Or, on the contrary, the risks are high, but in fact everything is fine with the child. The first screening is carried out at 11-13 weeks of pregnancy and consists of the following stages: 1. An ultrasound is performed to identify existing abnormalities. Here it is mandatory to assess the thickness of the collar space, the presence and size of the baby’s nasal bone. 2. A biochemical blood test is done. This analysis evaluates: B-hCG and PAPP-A (Pregnancy-associated plasma protein-A, pregnancy-associated plasma protein-A). The obtained data is entered into the PRISCA or ASTRAIA program. The following information is also additionally entered into the program:✓ age of the pregnant woman✓ weight✓ smoking✓ gestational age✓ number of fetuses✓ race✓ whether IVF was performed and the date of transfer✓ associated diseases✓ pregnancy characteristics (if any)✓ taking medications✓ whether the woman had children with chromosomal pathologies and the presence of such in relatives. The reliability of the program results depends on the accuracy of the data entered into it. Also, to understand, the higher the woman’s age, the higher the likelihood that the program will give a higher probability of having a baby with disabilities, this also applies to the presence of these bad habits and other things. If the program shows a high probability of having a child with one of the above diseases, the attending physician or geneticist suggests that the woman undergo amniocentesis (taking amniotic fluid) or cordocentesis (taking umbilical cord blood for analysis) for a more accurate diagnosis. In particularly difficult cases, cordocentesis may be required - taking umbilical cord blood for analysis, chorionic villus biopsy. These methods are invasive and involve risks for both the mother and the fetus. The decision to carry out or refuse them is made by the woman, the doctor voices all the existing risks (the following risks exist: infection of the membranes, breaking of water, death of the baby, premature miscarriage). For some time now, an alternative to invasive research has emerged. There is non-invasive perinatal screening (NIPT), which allows you to test for genetic abnormalities in the fetus using blood taken from the mother. From the 9th week of pregnancy, fetal blood cells enter the woman’s blood in small quantities. It is they who are isolated from the general mass, whose DNA is detected and a detailed genetic analysis is carried out. If a negative result is obtained, the woman does not have to worry and does not agree to any invasive methods. If the test result is positive and the woman wants to keep the “special” child, there is also no need to go through anything else. If the spouses or the woman decide to terminate the pregnancy, it will be necessary to do an invasive study, since NIPT is not a basis for abortion or artificial birth at a later stage..

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