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Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis
Zhengyi Xia1, Ran Zhou1, Yiming Li1
1Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu, China.
Annals of Medicine
|March 4, 2023
Summary
Chromosomal microarray analysis (CMA) for miscarriage genetic testing shows similar live birth rates for chromosomally abnormal and normal miscarriages. However, partial aneuploidies increase spontaneous abortion risk.
Area of Science:
- Reproductive genetics
- Clinical genetics
- Genomic medicine
Background:
- Chromosomal microarray analysis (CMA) is standard for miscarriage genetic diagnosis.
- The prognostic value of CMA in products of conception (POCs) after recurrent miscarriage is unclear.
Purpose of the Study:
- To evaluate reproductive outcomes in couples with recurrent miscarriage after embryonic genetic testing by CMA.
Main Methods:
- Retrospective study of 1142 couples undergoing CMA for embryonic genetic testing.
- Follow-up data collected from 1022 couples post-CMA.
Main Results:
- Pathogenic chromosomal abnormalities found in 60.2% of 1130 cases.
- No significant difference in subsequent (88.6% vs. 91.1%) or cumulative live birth rates (94.5% vs. 96.7%) between abnormal and normal miscarriage groups.
- Partial aneuploid miscarriage linked to higher spontaneous abortion risk (19.0% vs. 6.5%).
Conclusions:
- Recurrent miscarriage with chromosomal abnormalities has a similar reproductive prognosis to chromosomally normal miscarriages.
- CMA accurately diagnoses POCs in recurrent miscarriage.
- While live birth rates are comparable, partial aneuploidies indicate increased adverse pregnancy event risk.
