Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.

ABSTRACT:

Background

Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarriages, fetal demise, and confirming positive prenatal cell-free DNA screening results.

Methods

In this study, we retrospectively examined 523 prenatal and 319 products-of-conception (POC) CMA cases tested at Nationwide Children's Hospital from 2011 to 2020. We reviewed the referral indications, the diagnostic yield, and the reported copy number variants (CNV) findings.

Results

In our cohort, the diagnostic yield of clinically significant CNV findings for prenatal testing was 7.8% (n = 41/523) compared to POC testing (16.3%, n = 52/31

SUBMITTER: Olayiwola JO 

PROVIDER: S-EPMC10958178 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature