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

¹a Center for Genetics and Prenatal Diagnosis , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , China.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

|October 17, 2017

Summary

Chromosomal abnormalities, particularly aneuploidies, are the primary cause of early miscarriage. Genetic analysis of products-of-conception (POC) and parental karyotyping aid in risk assessment for future pregnancies.

Area of Science:

Reproductive genetics
Cytogenetics
Genomic medicine

Background:

Recurrent miscarriage affects a significant number of couples, impacting reproductive outcomes.
Identifying the genetic causes of miscarriage is crucial for effective risk assessment and counseling.
Previous methods for analyzing miscarriage causes have limitations in detecting certain chromosomal abnormalities.

Purpose of the Study:

To investigate the etiological factors of early miscarriage.
To assess the utility of single nucleotide polymorphism (SNP) array and karyotyping in identifying chromosomal abnormalities in products-of-conception (POC).
To provide genetic risk assessment for guiding subsequent pregnancies.

Main Methods:

Analysis of 484 products-of-conception (POC) samples using single nucleotide polymorphism (SNP) array.
Karyotyping or fluorescence in situ hybridization (FISH) analysis of parental peripheral blood samples.
G-banding for detection of major chromosomal rearrangements in couples.

Main Results:

Successful SNP-array analysis of 96.7% of fresh POC samples.
A high rate of clinically significant chromosomal abnormalities (58.3%) was detected, including aneuploidy (43.4%), polyploidy (8.8%), and partial aneuploidy (3.6%).
Embryonic chromosomal abnormalities increased significantly with maternal age over 35; 12 major chromosomal rearrangements were identified in couples.

Conclusions:

Chromosome abnormalities are the leading cause of early miscarriage, with aneuploidies being the most frequent type.
SNP array and karyotyping provide valuable genetic information for understanding miscarriage.
These genetic analyses enable accurate risk assessment to guide future pregnancy management.

Keywords:

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

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Area of Science:

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Purpose of the Study:

Main Methods:

Main Results:

Conclusions:

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