Prenatal Genetic Testing in 19 Fetuses with Corpus Callosum Abnormality

Overview

Journal J Clin Lab Anal

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
Pathology

Date 2021 Sep 27

PMID 34569664

Citations 5

Authors

Qin She

Erfang Tang

Cui Peng

Li Wang

Dandan Wang

Weihe Tan

Affiliations

Soon will be listed here.

Abstract

Background: Corpus callosum abnormality (CCA) can lead to epilepsy, moderate severe neurologic or mental retardation. The prognosis of CCA is closely related to genetic etiology. However, copy number variations (CNVs) associated with fetal CCA are still limited and need to be further identified. Only a few scattered cases have been reported to diagnose CCA by whole exome sequencing (WES).

Methods: Karyotyping analysis, copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA) and WES were parallelly performed for prenatal diagnosis of 19 CCA cases.

Results: The total detection rate of karyotyping analysis, CMA (or CNV-seq) and WES were 15.79% (3/19), 21.05% (4/19) and 40.00% (2/5), respectively. Two cases (case 11 and case 15) were diagnosed as aneuploidy (47, XY, + 13 and 47, XX, + 21) by karyotyping analysis and CNV-seq. Karyotyping analysis revealed an unknown origin fragment (46,XY,add(13)(p11.2)) in case 3, which was further confirmed to originate from p13.3p11.2 of chromosome 17 by CNV-seq. CMA revealed arr1q43q44 (238923617-246964774) × 1(8.04 Mb) in case 8 with a negative result of chromosome karyotype. WES revealed that 2 of 5 cases with negative results of karyotyping and CNV-seq or CMA carried pathogenic genes ALDH7A1 and ARID1B.

Conclusion: Parallel genetic tests showed that CNV-seq and CMA are able to identify additional, clinically significant cytogenetic information of CCA compared to karyotyping; WES significantly improves the detection rate of genetic etiology of CCA. For the patients with a negative results of CNV-seq or CMA, further WES test is recommended.

Citing Articles

Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up.

Cai M, Lin N, Fu M, Que Y, Huang H, Xu L Mol Biol Rep. 2024; 51(1):872.

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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.

Marchionni E, Guadagnolo D, Mastromoro G, Pizzuti A Eur J Hum Genet. 2024; 32(7):759-769.

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Genetic heterogeneity in corpus callosum agenesis.

Panzaru M, Popa S, Lupu A, Gavrilovici C, Lupu V, Gorduza E Front Genet. 2022; 13:958570.

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Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.

Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Marchionni E, Traversa A, Pizzuti A Diagnostics (Basel). 2022; 12(3).

PMID: 35328129 PMC: 8947110. DOI: 10.3390/diagnostics12030575.

Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.

She Q, Tang E, Peng C, Wang L, Wang D, Tan W J Clin Lab Anal. 2021; 35(11):e23971.

PMID: 34569664 PMC: 8605137. DOI: 10.1002/jcla.23971.

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