Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values*

Basit Öğe Kaydı
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authorwosidSAYIN, N. CENK/A-5801-2018
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorInan, Cihan
dc.contributor.authorSayin, N. Cenk
dc.contributor.authorDolgun, Z. Nihal
dc.contributor.authorGurkan, Hakan
dc.contributor.authorErzincan, Selen Gursoy
dc.contributor.authorUzun, Isil
dc.contributor.authorSutcu, Havva
dc.date.accessioned2024-06-12T10:56:23Z
dc.date.available2024-06-12T10:56:23Z
dc.date.issued2019
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: 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.en_US
dc.identifier.doi10.1080/14767058.2017.1416079
dc.identifier.endpage1695en_US
dc.identifier.issn1476-7058
dc.identifier.issn1476-4954
dc.identifier.issue10en_US
dc.identifier.pmid29262756en_US
dc.identifier.scopus2-s2.0-85038638300en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1688en_US
dc.identifier.urihttps://doi.org/10.1080/14767058.2017.1416079
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19776
dc.identifier.volume32en_US
dc.identifier.wosWOS:000457737200016en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Ltden_US
dc.relation.ispartofJournal Of Maternal-Fetal & Neonatal Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChromosomal Polymorphismen_US
dc.subjectChromosome 9en_US
dc.subjectPAPP-Aen_US
dc.subjectPrenatal Diagnosisen_US
dc.subjectPericentric-Inversionen_US
dc.subjectHeteromorphismsen_US
dc.subjectTrimesteren_US
dc.subjectPregnancyen_US
dc.subjectRegionsen_US
dc.subjectRisken_US
dc.titlePrenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values*en_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu