Evaluation of the Relationship between Fetal Neck Fold and Diagnosis of Turner Syndrome in the First Trimester of Pregnancy

Abstract

Background & aim: Children with various anomalies have economic and emotional burden on the family and society. Early detection of congenital anomalies early in pregnancy and its termination can prevent the birth of a disabled baby. Examination of the fetal neck fold is recommended as a useful way to check for chromosomal abnormalities in pregnant women. Therefore, the aim of the study was to determine the relationship between fetal neck folds and the diagnosis of Turner syndrome in the first trimester of pregnancy. Methods: The present descriptive-analytical, prospective study was conducted on 1522 pregnant women with gestational during age of 11 to 13 weeks and 6 days in 2014 at Narges Genetics Laboratory, Ahvaz. The length of their tail series was measured. Embryos whose NT percentages above 95% were identified and their karyotypes were examined for the diagnosis of Turner syndrome. Data were analyzed using Chi-square and Pearson test. Results: In the present study, after first trimester screening, it was indicated that 1457 pregnant women were in the low-risk group and 65 were in the high-risk group (NT percent above 95%). After reviewing the results of karyotype, 2 turner syndrome was diagnosed, which both of were in the high-risk group, and the age of pregnant women with fetuses with Turner syndrome was 29 years. The mean NT level was 1.6 mm in the low-risk group, 2.8 mm in the high-risk group, and 3.7 mm in patients with Turner syndrome. Conclusion: By measuring NT in 11 to 13 weeks of pregnancy and considering the baseline risk factors for each patient, maternal age, gestational age, history of congenital anomalies, the possibility of Turner syndrome can be assessed and congenital anomalies can be diagnosed using special software.

Keywords

• turner syndrome
• nt
• first trimester screening