The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.
Συγγραφείς: Sapantzoglou I; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece. ioakeimsap@med.uoa.gr., Fasoulakis Z; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Tasias K; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Rouvali A; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Pegkou A; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Theodora M; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Daskalakis G; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece., Antsaklis P; 1St Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Vasilissis Sofias 80 Aven. 2-4, Lourou Str, 11528, Athens-Greece, PC, Greece.
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; Systematic Review; Meta-Analysis
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): Hydrocephalus*/genetics , Hydrocephalus*/diagnosis , Prenatal Diagnosis*/methods , Karyotyping* , Microarray Analysis*, Humans ; Female ; Pregnancy ; Karyotype
Περίληψη: Objective: The main objective of our study was to conduct a systematic literature review and a meta-analysis to evaluate the incremental yield of chromosomal microarray analysis compared to karyotyping in cases of fetal ventriculomegaly.
Methods: Our review was designed according to the PRISMA guidelines. It included all observational studies that reported the results of CMA testing in fetuses diagnosed with ventriculomegaly (both isolated and non-isolated),in fetuses with isolated ventriculomegaly, in fetuses with non-isolated ventriculomegaly, and in fetuses with mild isolated ventriculomegaly.
Results: 16 studies were included with a total of 2137 cases of affected fetuses that met the inclusion criteria for analysis. Combined data from these studies revealed an overall incremental yield of CMA over karyotyping of 7% (95% CI 4-10%) in cases with ventriculomegaly, 4% (95% CI 2-6%) in isolated cases, 10% (95% CI 6-16%) in non-isolated cases, and 2% (95% CI 1-4%) in mild isolated cases.
Conclusions: Our findings may be useful in clinical practice to guide management options and the counseling of the couples to individualize patient care and facilitate clinicians when they come across such a common clinical entity.
(© 2026. The Author(s).)
Competing Interests: Declarations. Conflict of interests: The authors have no relevant financial or non-financial interests to disclose. Ethics approval: Ethical approval was waived by the local Ethics Committee due to the nature and design of the study. Consent to participate: Not applicable or needed for this study. Consent to publish: Not applicable or needed for this study.
References: Turk J Obstet Gynecol. 2025 Jun 4;22(2):106-113. (PMID: 40462392)
Taiwan J Obstet Gynecol. 2025 Sep;64(5):822-830. (PMID: 40935460)
Am J Obstet Gynecol. 2021 May;224(5):516.e1-516.e16. (PMID: 33122027)
Ultrasound Obstet Gynecol. 2025 Nov;66(5):582-588. (PMID: 40847729)
Curr Opin Obstet Gynecol. 2018 Apr;30(2):104-110. (PMID: 29356709)
N Engl J Med. 2012 Dec 6;367(23):2175-84. (PMID: 23215555)
Lancet. 2019 Feb 23;393(10173):747-757. (PMID: 30712880)
Am J Obstet Gynecol. 2018 Jul;219(1):B2-B9. (PMID: 29705191)
Ultrasound Obstet Gynecol. 2020 Sep;56(3):340-347. (PMID: 31917496)
Hong Kong Med J. 2021 Dec;27(6):428-436. (PMID: 34949731)
Prenat Diagn. 2024 Apr;44(4):422-431. (PMID: 38054560)
Prenat Diagn. 2020 Jul;40(8):972-983. (PMID: 32333414)
Sci Rep. 2020 Nov 27;10(1):20765. (PMID: 33247184)
Ultrasound Obstet Gynecol. 2025 Nov;66(5):571-581. (PMID: 40785453)
Eur J Paediatr Neurol. 2020 Mar;25:106-112. (PMID: 32014392)
Eur J Paediatr Neurol. 2018 Nov;22(6):919-928. (PMID: 29709429)
Prenat Diagn. 2013 Dec;33(12):1119-23. (PMID: 23983223)
Prenat Diagn. 2021 Jan;41(1):123-135. (PMID: 32926442)
J Int Med Res. 2019 Nov;47(11):5508-5517. (PMID: 31422728)
Eur J Epidemiol. 2010 Sep;25(9):603-5. (PMID: 20652370)
J Clin Lab Anal. 2025 May;39(10):e70033. (PMID: 40192178)
J Perinat Med. 2018 Nov 27;46(9):975-982. (PMID: 28915119)
Ultrasound Obstet Gynecol. 2018 Apr;51(4):445-452. (PMID: 28556491)
Hum Genomics. 2025 Nov 19;19(1):137. (PMID: 41258163)
Radiology. 1988 Dec;169(3):711-4. (PMID: 3055034)
J Matern Fetal Neonatal Med. 2022 Dec;35(24):4788-4796. (PMID: 33371747)
Ultraschall Med. 2025 Feb;46(1):73-85. (PMID: 39214136)
Fertil Steril. 2018 Feb;109(2):201-212. (PMID: 29447663)
Prenat Diagn. 2012 Oct;32(10):986-95. (PMID: 22847778)
Ultrasound Obstet Gynecol. 2017 Dec;50(6):736-744. (PMID: 28337830)
Front Med (Lausanne). 2024 May 09;11:1349171. (PMID: 38784233)
Obstet Gynecol. 2014 Jul;124(1):83-90. (PMID: 24901266)
Obstet Gynecol. 2013 Dec;122(6):1374-7. (PMID: 24264715)
Chin Med J (Engl). 2021 Sep 20;135(3):268-275. (PMID: 34852409)
Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. (PMID: 33249554)
Ultrasound Obstet Gynecol. 2013 Jun;41(6):610-20. (PMID: 23512800)
Front Genet. 2026 Jan 05;16:1668252. (PMID: 41555925)
J Gynecol Obstet Hum Reprod. 2026 Apr;55(4):103112. (PMID: 41539549)
Prenat Diagn. 2012 Apr;32(4):362-70. (PMID: 22467167)
Ultrasound Obstet Gynecol. 2009 Aug;34(2):212-24. (PMID: 19644944)
Int J Gen Med. 2024 Aug 15;17:3531-3540. (PMID: 39161407)
Prenat Diagn. 2022 Jun;42(7):845-851. (PMID: 34958143)
BMC Med Genet. 2016 Nov 15;17(1):81. (PMID: 27846804)
Obstet Gynecol. 2011 Apr;117(4):867-876. (PMID: 21422858)
Mol Syndromol. 2025 Oct;16(5):401-410. (PMID: 41230204)
Eur J Hum Genet. 2016 May;24(5):645-51. (PMID: 26328504)
Obstet Gynecol. 2020 Oct;136(4):e48-e69. (PMID: 32804883)
Taiwan J Obstet Gynecol. 2019 Mar;58(2):251-254. (PMID: 30910148)
Int J Gynaecol Obstet. 2022 Dec;159(3):891-897. (PMID: 35373343)
BMC Pregnancy Childbirth. 2024 Dec 20;24(1):842. (PMID: 39707235)
Contributed Indexing: Keywords: Array CGH; CMA; Fetal ventriculomegaly; Karyotype; VM
Entry Date(s): Date Created: 20260602 Date Completed: 20260806 Latest Revision: 20260824
Update Code: 20260824
PubMed Central ID: PMC13442320
DOI: 10.1007/s00404-026-08470-8
PMID: 42228177
Βάση Δεδομένων: MEDLINE