Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study.

ABSTRACT:

Background

Most studies on chromosomal microarray analysis (CMA) and amniocentesis risks have not evaluated pregnancies with low risk for genetic diseases; therefore, the efficacy and safety of CMA and amniocentesis in this population are unclear. This study aimed to examine the benefits and risks of prenatal genetic diagnostic tests in pregnancies having low risk for chromosomal diseases.

Methods and findings

In this retrospective study, we used clinical data from a large database of 30,830 singleton pregnancies at gestational age 16-23 weeks who underwent amniocentesis for karyotyping with or without CMA. We collected socio-demographic, medical and obstetric information, along with prenatal screening, CMA and karyotyping results. Fetal loss events were also analysed. CMA w

SUBMITTER: Moshonov R 

PROVIDER: S-EPMC8075189 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature