Cytogenetic and genetic investigation of miscarriage cases in Eastern China

Abstract

Objective: Recurrent miscarriage (RM) affects about 5% of pregnancies. Etiology of 30–50% RM cases remains unknown. Advanced highly sensitive detection and analysis methods may help solve some of the cases.

Methods: Products of conception from 1155 RM cases were analyzed using classic karyotyping. Some cases without abnormal findings were subjected to next generation DNA sequencing (NGS) and chromosome copy number variation (CNV) analysis.

Results: Classic karyotyping identified abnormalities in 56.62% of the cases. Of the103 specimens analyzed using NGS, 39 (37.86%) were found to carry “pathogenic” CNVs. Recurrent microdeletions and microduplications were identified, and some with unique distribution patterns.

Conclusion: NGS CNV analysis is a highly sensitive and flexible method for detecting genetic abnormalities in RM cases.

Keywords:

• Genetic
• microdeletion
• microduplication
• NGS
• recurrent miscarriage

Acknowledgments

We thank staff at the Central Laboratory, Taizhou People’s Hospital for performing G-banding karyotyping of the specimens, and staff at Yikon Genomics for performing next generation DNA sequencing (NGS) and CNV analysis of the specimens.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

The study was supported in part by following grants: Jiangsu Chinese Traditional Medicine Management Bureau Science and Tech Special Grant, YB2015154 (HW); Taizhou Science and Tech Grant, TS2016 (HW).