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Contribution of chromosomal microarray analysis and next-generation sequencing to genetic diagnosis in fetuses with normal karyotype.
Akalin, Münip; Demirci, Oya; Dizdarogullari, Gizem E; Çiftçi, Erman; Karaman, Ali.
Afiliación
  • Akalin M; Department of Perinatology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.
  • Demirci O; Department of Perinatology, University of Health Sciences Zeynep Kamil Women's and Children's Disease Training and Research Hospital, Istanbul, Turkey.
  • Dizdarogullari GE; Department of Perinatology, University of Health Sciences Zeynep Kamil Women's and Children's Disease Training and Research Hospital, Istanbul, Turkey.
  • Çiftçi E; Department of Obstetrics and Gynecology, University of Health Sciences Zeynep Kamil Women's and Children's Disease Training and Research Hospital, Istanbul, Turkey.
  • Karaman A; Department of Medical Genetics, University of Health Sciences Zeynep Kamil Women's and Children's Disease Training and Research Hospital, Istanbul, Turkey.
J Obstet Gynaecol Res ; 49(2): 519-529, 2023 Feb.
Article en En | MEDLINE | ID: mdl-36316250
AIM: The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underwent invasive testing for different indications. METHODS: The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal structural malformation, presence of soft markers, and high risk in screening tests. CMA results were classified as pathogenic or likely pathogenic (pCNVs), benign (bCNVs), and variants of unknown clinical significance (VOUS). RESULTS: A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were detected in 8.2% of fetuses with structural malformations, 6.5% in soft markers, and 4.7% in high risk in screening tests. Pathogenic variants were detected by NGS in 33.8% of fetuses with bCNVs. CONCLUSIONS: pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuses with structural malformations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Feto Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: J Obstet Gynaecol Res Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Feto Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: J Obstet Gynaecol Res Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Australia