Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis

Sun, Yan; Zhang, Weiyuan; Wang, Zhiwen; Guo, Li-Kui; Shi, Shao-Wen

doi:10.1097/cm9.0000000000001683

Cited by 6 publications

(5 citation statements)

References 29 publications

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“…When VM is identified, a thorough evaluation should be performed, including detailed ultrasound assessment of the fetal anatomy, consideration of fetal MRI, amniocentesis for karyotype and chromosomal microarray (CMA), and investigations for fetal infection 2,5,6 . Chromosomal abnormalities have been reported in studies ranging from 2.7–7% 7,11,12 . The incidence of additional CNS and non‐CNS ultrasonographic abnormalities ranges from 10% to 76% but appears to be <50% in most studies 5,13–18 .…”

Section: Introductionmentioning

confidence: 99%

Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study

Ryan

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Cathcart

et al. 2022

Intl J Gynecology & Obste

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Section: Introductionmentioning

confidence: 99%

Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study

Ryan

Start

Cathcart

et al. 2022

Intl J Gynecology & Obste

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“…In our cohort study, the overall detection rate of chromosomal abnormality in VM was 9.1% for karyotyping. A previous meta-analysis involving the genetic etiology of VM indicated that the incidence rate of chromosomal abnormalities in fetal VM was ranging from 0 to 25% ( 1 ). In recent years, a number of studies have further enriched the incidence rates of chromosomal abnormalities in VM by karyotyping.…”

Section: Discussionmentioning

confidence: 99%

“…For our VM cases, the detection rate of chromosomal abnormality using CMA was 16.5%, slightly lower than some studies reporting 17.9–20.6% ( 2 , 17 ) and higher than other studies reporting 6.2–16.3% ( 3 , 10 , 11 , 18 – 20 ). It has been reported that CMA could yield an additional detection rate as a first-tier diagnostic tool in VM, with an incremental yield ranging from 5 to 26% ( 1 , 8 ). Some recent studies with larger sample sizes have also described that CMA could provide an additional diagnosis rate of 4.4–10.6% in VM ( 2 , 10 , 16 ).…”

Section: Discussionmentioning

confidence: 99%

“…Fetal ventriculomegaly (VM), defined as an atrial diameter of ≥10 mm, is one of the most common central nervous system (CNS) abnormalities observed during pregnancy. As a soft marker in prenatal ultrasound findings, the incidence rate of fetal VM is 0.03-2.20% (1)(2)(3). According to the suggestions from Society for Maternal-Fetal Medicine (SMFM), fetal VM could be typically classified into two categories: mild (10-15 mm) or severe (>15 mm) or mild (10-12 mm), moderate (13-15 mm) or severe (>15 mm) (4).…”

Section: Introductionmentioning

confidence: 99%

“…Some chromosomal copy number variants (CNVs) have frequently been reported in VM cases, e.g., 16p11.2 microdeletion, 15q11.2 microdeletion and 1q21.1 microdeletion (10)(11)(12). It was estimated that the incidence of chromosomal abnormalities in VM was 9% and the incremental yield of CMA in VM was 11% (1). It has been widely accepted that applying CMA in VM would improve the detection rate of genetic abnormalities in varying degrees.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly

Yue,

Yang,

Liu

et al. 2024

Front. Med.

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ObjectiveGenetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study aimed to investigate the chromosomal CNVs in fetuses with mild to moderate VM, and explore its genotype-phenotype correlation.MethodsA total of 242 fetuses with mild to moderate VM detected by prenatal ultrasound were enrolled in our study from October 2018 to October 2022. All cases underwent chromosomal microarray analysis (CMA) and G-banding simultaneously. All VM cases were classified different subgroups according to the maternal age, severity, VM distribution and presence/absence of other ultrasound abnormalities. The pregnancy outcomes and health conditions after birth were followed up. We also performed a pooled analysis regarding likely pathogenic and pathogenic CNVs (LP/P CNVs) for VM.ResultsThe detection rate of chromosomal abnormalities by karyotyping was 9.1% (22/242), whereas it was 16.5% (40/242) when CMA was conducted (P < 0.05). The total detection rate of chromosomal abnormalities by karyotyping and CMA was 21.1% (51/242). A 12.0% incremental yield of CMA over karyotyping was observed. The detection rate of total genetic variants in fetuses with bilateral VM was significantly higher than in fetuses with unilateral VM (30.0% vs. 16.7%, P = 0.017). No significant differences were discovered between isolated VM and non-isolated VM, or between mild and moderate VM, or between advanced maternal age (AMA) and non-AMA (all P > 0.05). 28 fetuses with VM were terminated and 214 fetuses were delivered: one presented developmental delay and one presented congenital heart disease. The VM cases with both positive CMA and karyotypic results had a higher rate of termination of pregnancy than those with either a positive CMA or karyotypic result, or both negative testing results (P < 0.001).ConclusionThe combination of CMA and karyotyping should be adopted to improve the positive detection rate of chromosomal abnormalities for VM. The total genetic abnormalities detected using both techniques would affect the final pregnancy outcomes. LP/P CNVs at 16p11.2, 17p13, and 22q11.21 were identified as the top three chromosomal hotspots associated with VM, which would enable genetic counselors to provide more precise genetic counseling for VM pregnancies.

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