Exploring the cause of early miscarriage with SNP-array analysis and karyotyping

Abstract

Objective: The aim of this study is to explore the cause of miscarriage, providing risk assessment to guide the next pregnancy.

Methods: Four hundred eighty-four products-of-conception (POC) samples were analyzed by single nucleotide polymorphism (SNP) array, and peripheral blood samples of couples were collected for karyotyping or fluorescence in situ hybridization (FISH) analysis.

Results: Four hundred sixty-eight of the 484 (96.7%) fresh POC samples were successfully analyzed using SNP-array. The rate of clinically significant chromosomal abnormalities were 58.3% (274/468), in which rates of aneuploidy, polyploidy, partial aneuploidy, uniparental isodisomy (isoUPD), and pathogenic microdeletion/microduplication were 43.4% (203/468), 8.8% (41/468), 3.6% (17/468), 1.9% (9/48), and 0.9% (4/468), respectively. The percentage of embryonic chromosomal abnormalities significantly increased with maternal age of patients older than 35 years old. Among 468 couples, 12 major chromosomal rearrangements were detected by G-banding, including nine reciprocal translocations, two Robertsonian translocations, and one superfemale.

Conclusions: Chromosome abnormality is the main causes of early miscarriage, and aneuploidies are the most common type of chromosomal abnormalities. Application of SNP array and karyotyping in early miscarriage can provide more genetic information about miscarriage, providing risk assessment to guide the next pregnancy.

Keywords:

• Aneuploidy
• chromosome abnormality
• early miscarriage
• karyotyping
• products of conception
• SNP-array

Acknowledgements

We thank the patients who had donated their aborted fetal tissues for this study. Grateful thanks to my supervisor, Kong Xiang-Dong, for her constructive reviews of a previous draft of this manuscript, and all members of Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University for their dedication, support and contributions.

Disclosure statement

The authors declare that there is no conflict of interest.