Chromosomal Abnormalities Arising Due To Meiotic Errors In RPL
August 20, 2025
Chromosomal Abnormalities Arising Due to Meiotic Errors in Recurrent Pregnancy Loss (RPL)
Authors: Anushka Shrivastava, Brijesh Kumar, Tara Nath, Sonal R. Bakshi, Vaidehi Jobanputra Institute of Science, NIRMA University, Ahmedabad
Background
Miscarriage (spontaneous abortion) is the natural loss of an embryo or fetus in the womb. It occurs in 15–30% of all clinically recognized pregnancies (Stovall et al., 2002).
Studies on miscarriage tissue samples (Products of Conception, or POC) have shown that nearly 50% are linked to fetal chromosomal abnormalities.
Sex chromosomal abnormalities often arise from meiotic errors during egg or sperm formation.
Paternal vs maternal meiotic errors:
Nearly 50% of XXY (Klinefelter) pregnancies result from paternal non-disjunction.
Less than 10% of other trisomies arise due to paternal errors.
Monosomy X (Turner Syndrome), which accounts for ~7% of spontaneous abortions, is usually caused by loss of the paternal sex chromosome. Interestingly, there is no maternal age effect on the incidence of 45,X.
Objective
To study the chromosomal abnormalities caused by meiotic errors in cases of recurrent spontaneous abortions (RSA).
Methods
Samples: 48 miscarriage (POC) cases, including fetal and placental tissue.
Techniques Used:
Tissue culture with karyotyping to identify chromosomal abnormalities.
Where culture was unsuccessful, multiplex interphase FISH probe sets were applied.
Results
14 out of 48 samples yielded successful karyotypes.
FISH was used in cases where tissue culture failed.
6.25% of cases showed autosomal trisomies (13, 18, 21).
8.33% of cases had sex chromosomal anomalies (Monosomy X, XYY, XXY).
Karyotyping remains useful for identifying visible chromosomal abnormalities.
FISH is valuable for detecting submicroscopic anomalies in non-dividing cells, but is limited to pre-specified regions.
There is a strong need to integrate advanced methods like Chromosomal Microarray (CMA), which can detect cryptic abnormalities missed by conventional cytogenetics.
👉 Identifying chromosomal causes of Recurrent Pregnancy Loss (RPL) is critical for:
Accurate genetic counseling of couples.
Prenatal diagnosis in future pregnancies.
Reducing anxiety by explaining causes of miscarriage.
LABASSURE Advantage
At LABASSURE, we provide:
Comprehensive POC analysis for miscarriage cases.
Advanced Chromosomal Microarray (CMA) for high-resolution detection of cryptic abnormalities.
Karyotyping & FISH testing when required.
Genetic counseling services to guide couples experiencing recurrent pregnancy loss.
Key Takeaway
Miscarriages affect up to 30% of pregnancies, with nearly 50% linked to chromosomal abnormalities.
Meiotic errors play a major role in conditions like Monosomy X, XXY, and autosomal trisomies.
Advanced testing like CMA is essential for accurate diagnosis and future pregnancy planning.
📧 For more information on Recurrent Pregnancy Loss testing and genetic counseling in India, contact us at info@labassure.com
