Prenatal diagnosis is the science of identifying structural and functional abnormalities in the developing baby in the womb. A major anomaly is found in 2-3% of all newborns. Births with anomalies are both medical, social and psychiatric problems. Today, many anomalies can be detected before the baby is born. Some of them can be treated before they are born. Some pregnant women are more at risk of anomalous birth than others.– Pregnancies over 35 years of age,
– Twin pregnancies over 31 years of age,
– Those who have already had a child with a chromosomal disorder,
– Those with major structural abnormalities on ultrasonography,
– One of the expectant parents has a chromosomal disorder
– Recurrent miscarriages in the first trimester. The methods we use for prenatal diagnosis during pregnancy are standard ultrasonography, advanced ultrasonography, early screening blood tests at 12-14 weeks, AFP tests at 16 weeks and invasive interventions such as amniocentesis, chorionic villus sampling and cordocentesis.
Amniocentesis or chorionic villus sampling can be performed in the high-risk group previously determined to be high-risk and in the high-risk group determined by diagnostic screening tests or ultrasonography. These methods had a miscarriage rate between 2% and 1/200 miscarriage risk. Especially the exact diagnosis of anomalies related to genetic structure and number, for example Down syndrome, can only be made with this method. In addition to genetic defects, other problems such as familial Mediterranean anemia, hemophilia and blood incompatibility can be known before the baby is born by taking the baby’s blood sample. Today, all pregnant women who have not been identified as risky before should be screened with ultrasound and blood tests.
