Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values*. (19th May 2019)

• Record Type: Journal Article
• Authors: Inan, Cihan; Sayin, N. Cenk; Dolgun, Z. Nihal; Gurkan, Hakan; Erzincan, Selen Gursoy; Uzun, Isil; Sutcu, Havva; Ates, Sinan; Atli, Emine; Varol, Fusun
• Is Part Of: Journal of maternal-fetal & neonatal medicine. Volume 32:Number 10(2019)
• Page Start: 1688
• Page End: 1695
• Publication Date: 2019-05-19
• Subjects: Chromosomal polymorphism -- chromosome 9 -- PAPP-A -- prenatal diagnosis; Obstetrics -- Periodicals; Perinatology -- Periodicals; Infants (Newborn) -- Diseases -- Periodicals; Neonatology -- Periodicals; 618.2
• DOI: 10.1080/14767058.2017.1416079
• Languages: English
• ISSNs: 1476-7058

Abstract

Abstract: Introduction: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters. Materials and methods: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated. Results: Fetal chromosomal polymorphism prevalence was 5.3% ( n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% ( n = 55); 8.9% ( n = 9), and 6.9% ( n = 7), respectively]. The most common polymorphic variant was 9qh+ ( n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) ( p = .028) and higher unconjugated estriol (uE3) ( p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants ( p = .048) or women having fetuses with normal karyotype ( p = .007). Conclusions: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9.