The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridYALCINTEPE, Sinem/0000-0002-8557-8885
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T10:59:07Z
dc.date.available2024-06-12T10:59:07Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: In a multiethnic community, our goal was to assess the applicability of this method. Here we offer a collection of 112 diagnostic prenatal samples for which a comprehensive study of exons, exons/intron boundaries, and major rearrangements has been investigated in prenatal samples of fetuses with suspected cystic fibrosis over the past decade.Methods: For the CFTR mutation study, 112 prenatal samples (amniotic fluid, chorionic villi, or cultured cells from amniotic fluid or chorionic villi) were brought into our lab. QIAseq Targeted NGS DNA Panel (Qiagen, Hilden, Germany) was performed to analyze the CFTR gene (27 exons).Results: The pathogenic variation NM000492.4(CFTR):c.3454G>C was the most often found (p.Asp1152His), which accounted for 50% of the classic pathogenic CF variants in the study population. Compound heterozygous CFTR pathogenic variations were detected in one of our patients. NM000492.3(CFTR):c.2620-15C>G and NM000492.3(CFTR):c.2756A>G Two variants, one of which was reported as VUS and the other as pathogenic, were detected in a 17-week -old fetus (0.89%). Fetus inherited the NM000492.3(CFTR):c.2756A>G variant from mother and the NM000492.3(CFTR):c.2620-15C>G variant from father. There is an isolated hyperechoic bowel sign at 17 weeks of pregnancy.Conclusion: In our case series, genetic analyzes suggest that an affected child may be heterozygous for CFTR mutations, compound heterozygous for two clinically significant recessive mutations inherited from healthy carrier parents. Early prenatal genetic testing pretesting and posttesting genetic counseling is crucial in the management of future pregnancies in heterozygous couples which are healthy carriers for CFTR mutations.en_US
dc.identifier.doi10.4274/BMJ.galenos.2023.2023.1-10
dc.identifier.endpage199en_US
dc.identifier.issn1305-9319
dc.identifier.issn1305-9327
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85165909581en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage191en_US
dc.identifier.urihttps://doi.org/10.4274/BMJ.galenos.2023.2023.1-10
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20315
dc.identifier.volume19en_US
dc.identifier.wosWOS:001021447400012en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofMedical Journal Of Bakirkoyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCystic Fibrosisen_US
dc.subjectGenetic Testingen_US
dc.subjectCFTR Mutationsen_US
dc.subjectEchogenic Bowelen_US
dc.subjectSequence Variantsen_US
dc.subjectConsensusen_US
dc.subjectRisken_US
dc.subjectGuidelinesen_US
dc.subjectInfectionen_US
dc.subjectPregnancyen_US
dc.subjectFetusen_US
dc.titleThe Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosisen_US
dc.typeArticleen_US

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