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Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?
Samantha L P Schilit1,2, Courtney Studwell1, Pamela Flatley1
1Division of Clinical Cytogenetics, Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Prenatal Diagnosis
|September 30, 2022
Summary
Chromosomal microarray (CMA) effectively detects genetic abnormalities in products of conception (POC), outperforming karyotyping. This method aids in identifying recurrence risks for couples experiencing pregnancy loss.
Area of Science:
- Genetics
- Reproductive Medicine
- Cytogenomics
Background:
- Recurrent pregnancy loss necessitates accurate etiological investigation.
- Cytogenomic analysis of products of conception (POC) is crucial for understanding miscarriage causes.
Purpose of the Study:
- To evaluate the effectiveness and outcomes of chromosomal microarray (CMA) for cytogenomic analysis of POC.
- To compare CMA with traditional karyotyping methods in POC evaluation.
Main Methods:
- A 42-month retrospective study analyzed 323 POC samples using CMA.
- Results were correlated with gestational age, phenotype, orthogonal testing, and parental analysis.
Main Results:
- CMA identified abnormalities in 47.4% of first-trimester and 10.9% of later-trimester losses.
- Discordance with karyotype was observed in 20% of cases, often due to maternal cell overgrowth.
- Autosomal trisomies and triploidy were the most frequent abnormalities.
Conclusions:
- CMA is a reliable method for POC genetic testing, aligning with karyotype study data.
- CMA offers advantages over karyotyping by not requiring viable cultures.
- CMA findings can identify increased recurrence risks for couples with pregnancy loss.
