This analysis evaluates chromosomal abnormalities in couples with balanced translocations, suggesting improved prenatal diagnosis methods.
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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Fan et al. (2026) studied this question.
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