Screening for chromosomal abnormalities in 2650 infertile couples undergoing ICSI

Area of Science:

• Human Genetics
• Reproductive Medicine
• Clinical Cytogenetics

Background:

• Chromosomal abnormalities represent a significant genetic risk factor in infertility treatments like intracytoplasmic sperm injection (ICSI).
• Understanding the prevalence of these aberrations is crucial for improving IVF outcomes and genetic counseling.

Purpose of the Study:

• To prospectively evaluate the frequency of chromosomal aberrations in couples undergoing ICSI.
• To identify the types and distribution of karyotype abnormalities in an infertile population seeking assisted reproductive technologies.

Main Methods:

• Prospective study involving 2650 infertile couples (5300 patients) undergoing chromosome analysis.
• Standard cytogenetic techniques including blood sample culture, harvesting, and chromosome banding were employed.
• Karyotyping was performed before initiating ICSI procedures.

Main Results:

• A total of 3.06% of patients (162/5300) exhibited abnormal karyotypes.
• Abnormalities were more frequent in males (85.19% of abnormal cases) compared to females (14.81%).
• Sex chromosome abnormalities (2.2%) and autosomal aberrations (0.85%) were identified, with a predominance in males.

Conclusions:

• Chromosomal abnormalities are present in a notable percentage of infertile patients undergoing ICSI, particularly males.
• Pre-ICSI karyotype analysis is recommended to identify individuals who may benefit from preimplantation genetic diagnosis.
• These findings support routine genetic screening in infertile couples undergoing assisted reproduction to optimize treatment strategies.