Fetal anomalies; are physiological and / or functional disorders that occur in the fetus. Anomalies can be seen in all systems of the fetus. The reasons for the anomaly vary according to the region where the anomaly occurs. Areas where anomalies can be seen:
Central nervous system,
Neck and face,
Placenta and cord tie,
Abdominal wall and abdominal cavity,
In today’s technology, fetal anomalies begin to be detected in the womb from 7-8 weeks.
In some anomalies, the option of termination of pregnancy may be considered because it does not give the baby a chance to survive or causes severe sequelae.
On the other hand, in cases that can be treated or controlled, a healthy life is possible with treatment both in the womb and immediately after birth.
Especially detailed ultrasonography or anomaly screening should be done during pregnancy. Thanks to these scans performed at the 18th and 23rd weeks of pregnancy, the organs of the unborn baby can be examined in detail.
Why Do Congenital Anomalies Occur?
Congenital anomalies in other words fetal anomalies; can occur due to defects in chromosomes or genes.
These defects may be inherited from the mother or father, or may occur due to malfunctions in cell division after fertilization.
On the other hand, some fetal anomalies are seen more common in some ethnic groups. Some blood diseases and problems such as cystic fibrosis are included in this group.
On the other hand, there are also fetal anomalies caused by problems that occur for the first time during the fusion of egg and sperm.
Down Syndrome (Trisomy 21) and Edwards Syndrome (Trisomy 18) can be given as example for these. Some congenital anomalies occur due to substance addiction (Smoking, Alcohol, Cocaine, etc.).
Are Fetal Anomalies Diagnosed Before Birth?
Screening of congenital anomalies starts between 11-14 weeks. First, it starts with early detailed fetal ultrasonography, then continues with genetic screening tests. Detailed fetal ultrasonography at 18-23 weeks is basically the most important anomaly research method.
With all these screening tests and evaluations, 90% of possible major (major) anomalies and approximately 80% of minor (minor) anomalies can be detected in the womb.
At this point, the main thing is to determine to whom and how will both genetic screening tests and anomaly screening methods be applied.
Today, universal screening, that is to say, applying these screenings to all pregnant women is accepted.
However, at least to risky groups;
Advanced maternal age (> 35)
Those with diabetes before pregnancy
Congenital anomalies in the family, especially in expectant parents
Chromosomal anomaly carriers
Those with metabolic diseases (phenylketonuria) that increase the risk of anomaly
Those who are exposed to environmental teratogens (factors that can cause anomalies), such as radiation or teratogenic drugs
Obese pregnant women
Multiple pregnancies (especially identical twins)
IVF (test tube baby) pregnancies
Pregnancies who had a baby with an anomaly in their previous pregnancy or whose pregnancy was terminated due to an anomaly
In other words, these detailed tests should definitely be recommended to the groups with some examples given above.