Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.

ABSTRACT:

Background

Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotyping in prenatal diagnosis for pregnant women with abnormal DS screening results.

Methods

The study recruited 1452 pregnant women with abnormal DS screening results including 493 with an enlarged nuchal translucency thickness (NT ≥ 2.5 mm) and 959 with an abnormal second-trimester maternal serum biomarker screening results. They underwent amniocentesis to obtain amniotic fluid for CMA and karyotyping.

Results

CMA identified 74/1452 abnormal results, which was more efficient than karyotyping (51/1452, P < 0.05.) CMA i

SUBMITTER: Kang H 

PROVIDER: S-EPMC9635180 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature