Determine Down's syndrome in pregnancyhelp laboratory research and UZIFoto: Getty The appearance of the 47 chromosomes in the fetus for the mother remains invisible until the time of ultrasound and laboratory studies. The risk of giving birth to a child with Down's syndrome is high in women over 30 years of age. Statistics show that the older the pregnant, the higher the likelihood of having a sick baby.

Signs of Down syndrome during pregnancy

In recent times, cases of detection ofDown syndrome in previously nulliparous women younger than 29 years. This is due to the genetic predisposition to the disease, as well as the age of the child's father. 40-45-year-old men have a higher risk of conceiving a sick baby than younger ones. According to statistics, 1 child with Down's syndrome per thousand of newborns. Of all children with such a disease, only 6% remain in families, 94% are refuseniks. How to identify Down's syndrome during pregnancy? To do this, you need to turn to a gynecologist and genetics. To identify the disease, experts are assigned the following diagnostics:

• Ultrasound;
• a blood test for hormones;
• invasive and non-invasive analysis on the child's DNA.

In general, a complex diagnosis is prescribed to obtain an accurate result. Studies help identify the following signs of Down syndrome during pregnancy:

• Anomalies in the development of the child;
• thickening of the collar fetal space - indicator over 3 mm;
• underdevelopment of the nasal bones of the fetus;
• an increase in the level of hCG (a hormone produced by the placenta after attaching the fetal egg) - an index higher than 2 MoM;
• decrease in the index of fetoprotein alpha in the blood of a pregnant woman is below 0.5MoM.

Ultrasound in the first and secondtrimester of pregnancy (at 12-13, 16-18 weeks) helps to identify pathologies in the development of the child. The first thing the doctor pays attention to is the development of the fetal nasal bones, his heartbeat, the change in the size of the organs of the urinary system, the development of the upper jaw, the femoral and humerus bones. If any of the indicators deviate from the norm, the risk of a sick kid's birth increases. But until the moment of delivery there is a chance to take out a healthy child, since ultrasound does not give a 100% accurate result, and only on it should not be based. Blood on the level of female hormones, alpha fetoprotein and hCG gives an approximate result, because doctors use tests in conjunction with ultrasound. When laboratory tests and ultrasound confirm fears, pregnant women are assigned invasive tests for the baby's DNA. Under this concept, two types of studies are concealed: amniocentesis and placenta biopsy (chorion). They are practically painless, but their use can provoke an abruption or infection of the placenta, premature birth. Such studies are prescribed only as a last resort, they are conducted in a sterile hospital, under the supervision of ultrasound to avoid fetal injury. In amniocentesis, amniotic fluid is collected by a long needle, and a placenta sample is taken for a biopsy. The accuracy of analyzes is 80-90%. The most safe test for Down syndrome is a noninvasive prenatal test (NIPT). It is a normal analysis of venous blood, the result of which is obtained after 14 days from the date of delivery. This study is paid, it is performed in genetic clinics, its accuracy is 99.9%. Down syndrome is incurable. The only thing that doctors prescribe is the treatment of diseases that accompany illness. Children with Down's syndrome are rarely born viable, and for pregnant women, legislation provides for the termination of pregnancy after confirmation of the diagnosis. In any case, the choice remains for future parents. Also interesting:

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