Parental Somatic Mosaicism Detected During Prenatal Diagnosis.

ABSTRACT:

Objective

Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism. Next generation sequencing (NGS) methods, utilised for non-invasive prenatal diagnosis (NIPD) and trio prenatal exome sequencing in our laboratory, have greater sensitivity. Here we review the cases of parental somatic mosaicism we have detected and discuss its impact on management.

Method

Laboratory databases from 1 January 2015 to 30 September 2022 were reviewed to identify all cases where parental somatic mosaicism was detected during NIPD and prenatal exome testing.

Results

During the development of NIPD testing, we id

SUBMITTER: Chandler NJ 

PROVIDER: S-EPMC11790521 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature