CURRENT STATUS OF NONİNVASİVE PRENATAL TESTİNG İN TURKEY.

The discovery of cell free fetal DNA (cffDNA) in the maternal circulation has driven new opportunities for noninvasive prenatal testing (NIPT). Analysis of cffDNA from maternal plasma by new technologies such as High resolution melting analysis (HRM) offers an alternative potential for NIPT. The aim of our study was to detect the paternal alleles in cffDNA of pregnant women carrier of beta thalassemia, cystic fibrosis (CF) and congenital adrenal hyperplasia (CAH) using HRM. Fetal RHD genotyping is also studied in RHD(-) women by multiplex real-time PCR. Maternal plasma samples obtained from 120 beta thalassemia, one CF and one CAH carrier first trimester pregnant women before chorionic villus sampling. For fetal RHD genotyping blood samples collected from 90 RHD(-) pregnant women. The paternal mutations were detected in cffDNA by HRM analysis, using related primers for beta globin, CFTR and CYP21 genes. Fetal RHD examined for exon 5 and 7. The results confirmed by serology tests and sequencing analysis. Paternally alleles were detected in 54 of 120 for beta thalassemia, one for CF and one for CAH in cffDNA. Detecting paternal beta thalassemia mutations were IVS1-110(G-A), IVSII-848(C-A), CD15(G-A), IVS1-6(T-C), IVSII-1(G-A) and Cd 8(-AA). The paternal CF mutation (R334W) and CAH mutation (V281L) were also detected. We concluded that HRM analysis is a rapid and useful mutation scanning method in NIPT of beta thalassemias, CF and CAH to detect paternal alleles in cffDNA. Detecting fetal RHD status from cffDNA is useful to management RH incompatibility in early pregnancy. [ABSTRACT FROM AUTHOR]