Exome sequencing uncovers promising candidate genes for foetal structural malformations.

ABSTRACT: Background & objectives Prenatal ultrasonography in the first and second trimesters detects foetal structural anomalies in up to five per cent of pregnancies. These anomalies are often suspected to have a genetic cause. While conventional genetic tests such as karyotyping, fluorescent in situ hybridisation (FISH), and chromosomal microarray (CMA) have been used alongside whole-exome sequencing (WES), their combined diagnostic yield in malformed foetuses is limited to 40 per cent, leaving most cases undiagnosed. This study aimed to identify novel genetic factors linked to foetal structural malformations. Methods A total of 44 medically terminated foetuses were included in this study with severe structural malformations from a maternity hospital in the western part of India. We performed a c

SUBMITTER: Sudhakar DV 

PROVIDER: S-EPMC12550440 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature