Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.
Συγγραφείς:	Feodorovici K; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany. Karla.Feodorovici@ukbonn.de.; Department of Obstetrics and Gynecology, University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany. Karla.Feodorovici@ukbonn.de., Klinkhammer H; Institute for Medical Biometry and Statistics, University Marburg, Marburg, Germany.; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany., Strizek B; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany., Gembruch U; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany., Geipel A; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany.
Πηγή:	Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2026 Jun 02; Vol. 313 (1). Date of Electronic Publication: 2026 Jun 02.
Τύπος έκδοσης:	Journal Article
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8710213 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0711 (Electronic) Linking ISSN: 09320067 NLM ISO Abbreviation: Arch Gynecol Obstet Subsets: MEDLINE
Imprint Name(s):	Publication: Berlin : Springer Verlag Original Publication: München : Springer International, c1987-
Ιατρικοί όροι (MeSH):	Exome Sequencing/statistics & numerical data , Microarray Analysis/methods , Nervous System Malformations/diagnosis , Nervous System Malformations/genetics , Prenatal Diagnosis/methods , Central Nervous System/abnormalities, Humans ; Female ; Retrospective Studies ; Pregnancy ; Follow-Up Studies ; Karyotyping
Περίληψη:	Objective: To assess the diagnostic yield of chromosomal microarray analysis (CMA) and exome sequencing (ES) in fetuses with central nervous system (CNS) anomalies across two study periods (January 2008 to June 2016 and July 2016 to December 2024), and to evaluate long-term outcomes. Methods: This retrospective study included cases with fetal CNS anomalies undergoing invasive testing by G-banded karyotyping and, in selected cases, additional CMA and/or ES. Fetuses were classified into four groups: isolated CNS malformations, isolated CNS plus (additional minor abnormalities and dynamic findings), complex CNS anomalies, and multisystem malformations. Results: Among 780 cases, causative findings were identified in 23.8% (25/105) by CMA and 39.0% (73/187) by ES. Use of CMA/ES increased in the second study period (16.3% vs. 59.7%), resulting in more pathogenic findings (26 vs. 72 cases), whereas diagnostic yield among tested cases decreased without significance. The highest ES yield was observed in multisystem CNS anomalies; isolated CNS plus cases showed higher yields than truly isolated CNS cases. In an exploratory subgroup analysis, isolated CNS plus cases with polyhydramnios had a higher CMA/ES yield than truly isolated cases. Among 91 live-born children with follow-up, 49.5% (45/91) had global developmental delay, which was more frequent with pathogenic findings (90.0%, 18/20; p = 0.002) and increasing anomaly complexity (11.1 to 81.8%; p < 0.001). Conclusion: Uptake of CMA and ES increased over time and resulted in more etiologic diagnoses. In tested cases, both methods provided meaningful diagnostic yield in fetuses with CNS anomalies and may contribute to prognostic assessment and prenatal counseling. (© 2026. The Author(s).)
Competing Interests:	Declarations. Conflict of interest: The authors declare no competing interests. Ethical approval: Ethical approval was waived by the Research Ethics Committee of Bonn University Hospital in view of the retrospective nature of the study and all procedures being performed were part of the routine care (ID #132/22). Patient consent: Data collected retrospectively were saved anonymously, therefore an informed consent of the patients was not required.
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Contributed Indexing:	Keywords: Chromosomal microarray analysis; Exome sequencing; Fetal CNS anomalies; Minor and dynamic abnormalities; Neurodevelopmental outcome; Prenatal molecular genetics; Soft marker
Entry Date(s):	Date Created: 20260602 Date Completed: 20260603 Latest Revision: 20260813
Update Code:	20260813
PubMed Central ID:	PMC13230342
DOI:	10.1007/s00404-026-08481-5
PMID:	42230359
Βάση Δεδομένων:	MEDLINE

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Περιγραφή
ISSN:	1432-0711
DOI:	10.1007/s00404-026-08481-5