How to Identify Down's Syndrome in Pregnancy: Signs

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

Recently, there has been an increase in the number of cases of detectionDown syndrome in previously nulliparous women under 29 years of age. This is due to a genetic predisposition to the disease, as well as the age of the child's father. Men aged 40–45 years have a higher risk of conceiving a sick baby than younger men. According to statistics, there is 1 child with Down syndrome per 1,000 newborns. Of all children with this disease, only 6% remain in families, 94% are abandoned. How to determine Down syndrome during pregnancy? To do this, you need to contact a gynecologist and a geneticist. To identify the disease, specialists prescribe the following diagnostics:

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

In general, a comprehensive diagnosis is prescribed to obtain an accurate result. Research helps to 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 examination 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 nasal bone of the fetus, its heartbeat, changes in the size of the urinary system, development of the upper jaw, femur and humerus. If any of the indicators deviate from the norm, then the risk of giving birth to a sick baby increases. But until the moment of birth, there is a chance to bear a healthy child, since ultrasound does not give a 100% accurate result, and should not be relied on only it. Blood for the level of female hormones, alpha fetoprotein and hCG gives an approximate result, so doctors use tests together with ultrasound. When laboratory tests and ultrasound confirm concerns, the pregnant woman is prescribed invasive tests for the child's DNA. This term covers two types of tests: amniocentesis and placental (chorion) biopsy. They are virtually painless, but their use can provoke placental abruption or infection, premature birth. Such tests are prescribed only as a last resort, they are conducted in sterile hospital conditions, under ultrasound control, to avoid fetal injury. During amniocentesis, amniotic fluid is collected with a long needle, and during biopsy, a placenta sample is taken for analysis. The accuracy of the tests is 80–90%. The safest test for Down syndrome is considered to be a non-invasive prenatal test (NIPT). It is a routine venous blood test, the results of which are obtained 14 days after the test is taken. This test is paid for, it is conducted in genetic clinics, its accuracy is 99.9%. Down syndrome is incurable. The only thing that doctors prescribe is treatment of diseases associated with the disease. Children with Down syndrome are rarely born viable, and for pregnant women, the law provides for termination of pregnancy after confirmation of the diagnosis. In any case, the choice remains with the future parents. Also interesting: