Pregnancy is undoubtedly one of the most special periods of women. During this period, mothers are struggling with the additional physical and psychological burden of pregnancy on the one hand, and on the other hand, they carry the deep apricot of whether the babies they are excited about have structural or genetic anomalies. However, nowadays, many screening and diagnostic tests are being performed to overcome these concerns of mothers. Thanks to these tests, both families eliminate the question marks in their heads and the diagnosis of possible defects is made beforehand. Gynecology and Obstetrics Specialist Op. Dr. Gökmen İyigün, It provides the following information about the latest testing methods used to identify structural or genetic defects:
Tests tell your baby
The anomalies (defect, disability) that may occur in the womb are divided into two parts, either structurally or genetically. Nowadays, for the structural anomalies, detailed ultrasound examinations are performed at 18-23 weeks of gestation and first Trimester evaluation tests are performed at 11-14 weeks to detect genetic defects. Today, these two procedures are applied to every pregnant woman in modern centers and the family is informed about the risks of the baby.
11-14 weeks tests important
Kiss. Dr. Iyigun says about the 11-14 week tests: 1. While the first trimester evaluation test of the 11-14th week had 90-95% screening ability for chromosomal anomalies, this rate was 60% in triple test and the rate of amniocentesis in pregnant women older than 35 years It's about 40. The definitive diagnosis can be made in the baby of 3-3.5 months in the evaluation of 11-14 weeks, while the others reach the earliest 5-5.5 weeks. In this process, detailed information is given to the mothers about the structural anomalies of the baby by ultrasound. In addition, the general condition of the fetus (the unborn baby) can be obtained. Ultrasonography of the baby's nuchal translucency, nasal bone are examined and it is learned whether the baby is mongol or not. In mongolian babies, the nape is thicker and the nasal bone is either absent or not developed. Two hormones associated with mongol babies are being examined to determine whether the baby is at risk of becoming mongol. In addition, all organs of the baby are evaluated and the family is informed. It is recommended that the test be applied to all pregnant women. In particular, these two evaluation tests are the most important step of all pregnancy controls. Therefore, mothers are advised not to skip these weeks. ”
Color Doppler Ultrasound
Color Doppler Ultrasound is a procedure that should be routinely applied to every pregnant woman, but it is more accurate to apply to pregnant women and selected patients with special risks. 3 and 4-dimensional ultrasound examination is spreading rapidly today.
Heart examination with fetal echo
Nowadays, with the development of ultrasound technology and knowledge 'fetal echo' to the fetus, a significant part of the babies' heart anomalies can now be recognized.
This provides great opportunities for physicians and families to diagnose and detect pre-existing cardiac anomalies in infants. Fetal Echo is not routinely recommended for all pregnant women. However, Fetal Echo is recommended in the presence of diabetes in the mother, in the presence of cardiac anomalies in close relatives and in the evaluation of 11-14 weeks if the nuchal translucency is above a certain value.
Detection of genetic disease
Nowadays, it is possible to detect chromosomal abnormalities with the pregnancy fluid or cell taken from the womb. This is very important today to reveal whether the baby has a genetic disease. Dr. Iyigun gives the following information about the test: “With the test, the cells of the infant which is mixed in the womb are detected by a special method and blood can be taken from the mother as if a simple blood sugar is checked. However, because it is very expensive and gives wrong results between 2-10%, routine use cannot be performed in a healthy way. The routine use of this test will be a major revolution in genetic diagnosis. ”