Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.

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 an

SUBMITTER: She Q 

PROVIDER: S-EPMC8605137 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature