SCREENING FOR DOWN SYNDROME AND OTHER ANOMALIES DURING PREGNANCY

SCREENING FOR DOWN SYNDROME AND OTHER ANOMALIES DURING PREGNANCY

Some of the factors harmful to the baby during pregnancy originate from the baby. Down syndrome occupies an important place among them. The majority of babies with chromosome disorders die due to miscarriage in the first three months. 6 out of every 1000 babies carry a chromosomal disorder, and most of them pose a major problem both mentally and physically for both the family and society.

Maternal age:The frequency of Down syndrome increases as the mother's age increases. The frequency of giving birth to a baby with Down syndrome in society is 13 per 10,000 births. This number is 1 in 1351 births for 25-year-old mothers, 1 in 909 births for 30-year-olds, 1 in 384 births for 35-year-olds, 1 in 112 births for 40-year-old mothers, and 1 in 28 births for 45-year-old mothers. In the light of this information, amniocentesis is recommended for older pregnant women.

Biochemical screening:Maternal age,AFPand hCG< between the 11th and 14th weeks of pregnancy. Double test performed by looking at /strong> measurements, Triple Test performed by looking at maternal age,AFP,hCGand Estriol levels in maternal blood at the 16-18th week, and again at the 16-18th week. It includes Quadruple Tests performed by looking at maternal age, Inhibin, AFP, Estriol and hCG levels.

Screening with ultrasonography:A significant portion of babies with Down syndrome have congenital anomalies. It is a fact that has been known for a long time. Some of these anomalies can be detected in the womb by ultrasonographic examination. In addition, it has been observed that babies with Down Syndrome accumulate excessive fluid under the skin on their necks, and this is called Nuccal Traslusensy (NT). NT screening in the first trimester is a very important criterion for Down Syndrome.

Nuccal Thickness scanning:11-14th pregnancy. Nuchal translucency measured accurately between weeks and weeks has a sensitivity of 80% in detecting Down syndrome. Increased NT value; Trisomy 21 (Down syndrome), trisomy 18 and 13 may be seen together with some translocations and deletions and cardiac, diaphragmatic, renal and abdominal wall anomalies. Therefore, it should be determined that these structural anomalies do not exist in babies with high NT measurements.

Screening for fetal anomalies:Gü Nowadays, all pregnancies are between 20-24 weeks. It should be routinely scanned for anomalies between weeks. While some of the anomalies in the baby can be easily detected by ultrasonography, some may be overlooked. Therefore, screening ultrasonography should be performed very carefully. Some ultrasonographic indicators can provide early detection of chromosomal anomalies. For example, nuccal edema, macroglossia, atrioventricular septal defect, hydronephrosis, clinodactyly, short femur, choroid plexus cyst, etc. detected in people with Down syndrome.

All these improved scans applied today. However, our rate of detecting anomalies in babies is still not 100%. Even if all screening methods are applied, babies with anomalies will still be born.

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