What question did this study set out to answer?

To assess the effectiveness of karyotype and chromosomal microarray analysis for prenatal diagnosis in couples with balanced translocations.

April 16, 2026

Karyotype Analysis and Chromosomal Microarray Analysis in 568 Couples with Balanced Translocation for Prenatal Diagnosis

Key Points

To assess the effectiveness of karyotype and chromosomal microarray analysis for prenatal diagnosis in couples with balanced translocations.
Analyzed karyotype and chromosomal microarray data from 568 couples with balanced translocations.
Compared the effectiveness of both techniques in identifying chromosomal abnormalities.
Examined the implications of findings on adverse pregnancy outcomes.
Karyotyping identified a range of chromosomal abnormalities but missed smaller fragments.
Chromosomal microarray analysis detected minor chromosomal fragments but could not identify balanced variations.
Using both techniques together increased diagnostic precision for couples at risk of adverse outcomes.

Abstract

Couples with balanced chromosomal translocations face an increased risk of adverse pregnancy outcomes. While karyotyping is effective in identifying diverse chromosomal abnormalities, its ability to detect minor fragments is limited. Conversely, CMA excels at identifying chromosomal abnormalities with small fragments but struggles with detecting balanced structural variations. The concurrent application of both technologies enhances the precision of diagnosing the risk of adverse pregnancy outcomes.

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