Chromosomal abnormalities in miscarriages after different assisted reproduction procedures.

Area of Science:

• Reproductive Medicine
• Human Genetics
• Cytogenetics

Background:

• Approximately 10-15% of recognized pregnancies result in spontaneous abortion, with about 60% exhibiting chromosomal abnormalities.
• Karyotype analysis of products of conception (POC) is crucial for accurate genetic counseling and avoiding unnecessary interventions.

Purpose of the Study:

• To compare the incidence of chromosomal abnormalities in products of conception (POC) between assisted reproductive technology (ART) and natural conception (NC) in infertile couples.
• To investigate cytogenetic risks associated with different ART procedures.

Main Methods:

• Cytogenetic analysis of spontaneous metaphases from 277 POC samples (133 ART, 144 NC) using a direct method.
• Categorization of ART cases based on conception method: in vitro fertilisation (IVF), intracytoplasmic sperm injection (ICSI), ICSI with testicular sperm extraction (ICSI-TESE), and ICSI with cryo-preserved oocytes (cryo-ICSI).

Main Results:

• Overall abnormal karyotype rates were 63.2% for ART and 71.5% for NC, indicating no increased cytogenetic risk for ART.
• No significant difference in chromosomal anomalies was observed between ICSI (61.5%) and IVF (54.5%).
• High abnormality rates (80%) were noted in ICSI-TESE cases, with 50% triploid/tetraploid karyotypes. Cryo-ICSI and intra-uterine insemination (IUI) showed 54.5% and 85.7% abnormality rates, respectively.

Conclusions:

• Assisted reproductive technology (ART) does not appear to confer a higher cytogenetic risk for spontaneous abortion compared to natural conception in infertile populations.
• Specific ART methods, such as ICSI-TESE, may be associated with distinct chromosomal abnormality patterns.
• This study provides the largest analysis of POC cytogenetics in an infertile population, including detailed results from various ART procedures.