[Chromosomal microarray analysis for the causes of miscarriage or stillbirth]

Area of Science:

• Genetics
• Reproductive Medicine
• Bioinformatics

Background:

• Miscarriage and stillbirth often result from chromosomal abnormalities.
• Accurate genetic diagnosis is crucial for understanding pregnancy loss.
• Chromosomal microarray analysis (CMA) offers high-resolution detection of genetic variations.

Purpose of the Study:

• To evaluate the effectiveness of CMA in analyzing samples from miscarriage and stillbirth.
• To determine the types and frequencies of chromosomal abnormalities in pregnancy loss.

Main Methods:

• Copy number variations (CNVs) were detected using CMA in 824 samples from miscarriages or stillbirths.
• Analysis focused on chorionic villi or stillbirth tissues.

Main Results:

• CMA successfully analyzed all 824 specimens.
• Chromosomal abnormalities were identified in 46.2% of cases (381/824).
• Numerical abnormalities (81.9%), particularly aneuploidies (92.0%), were the most frequent findings, including Trisomy 16 and 45,X. Structural aberrations accounted for 17.3%.

Conclusions:

• CMA is a reliable and high-resolution method for diagnosing miscarriage and stillbirth.
• Chromosomal aneuploidies are a primary cause of spontaneous abortions and stillbirths.