The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

Abstract

Background

Chromosomal microarray analysis (CMA) is preferred for genetic work-up when fetal malformations are detected prenatally.

Objectives

To assess the detection rate of CMA after pregnancy termination due to abnormal ultrasound findings.

Methods

CMA was successfully performed in 71 pregnancies using fetal DNA (mainly from skin) or placenta. Data regarding clinical background, pregnancy work-up, and CMA were analyzed.

Results

Findings were abnormal in 17 cases (23.9%), of which 13 were detectable by karyotype. The incremental yield of CMA was 4/71 (5.6%); 1/32 (3.1%) for cases with an isolated anomaly and 3/39 (7.7%) for cases with nonisolated anomalies.

Conclusions

CMA yield from terminated pregnancies was 23.9%. Although most chromosomal abnormalities are detectable by karyotype, CMA does not require viable dividing cells; hence, it is more practical for work-up after termination. In most cases, the diagnosis was followed by consultation regarding the risk of recurrence and recommendations for testing in subsequent pregnancies.

Keywords:

• Abnormal ultrasound findings
• termination of pregnancy
• chromosomal microarray analysis
• copy number variations
• genetic work-up

Ethical approval

The study protocol was approved by the institutional Ethics Review Board. Informed consent was not required.

Disclosure statement

No potential conflict of interest was reported by the authors.