Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens

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Analysis reveals genetic causes of pregnancy loss in products of conception, suggesting improved diagnostic yield and clinical care.

Combining whole exome sequencing and chromosomal microarray achieved a diagnostic yield of 48.83%.
Aneuploidies were noted in 38.37% of samples, with Turner syndrome and trisomies being frequent anomalies.
The approach utilized chromosomal microarray and whole exome sequencing on products of conception specimens.
Diagnosis of genetic causes may enable better clinical management of pregnancy loss cases.

Kumaraswamy et al. (2025) studied this question.

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View Full Paper

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Authors

Analysis reveals genetic causes of pregnancy loss in products of conception, suggesting improved diagnostic yield and clinical care.

Combining whole exome sequencing and chromosomal microarray achieved a diagnostic yield of 48.83%.
Aneuploidies were noted in 38.37% of samples, with Turner syndrome and trisomies being frequent anomalies.
The approach utilized chromosomal microarray and whole exome sequencing on products of conception specimens.
Diagnosis of genetic causes may enable better clinical management of pregnancy loss cases.

Kumaraswamy et al. (2025) studied this question.

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