Underlying karyotype abnormalities in IVF/ICSI patients.

Area of Science:

• Human Genetics
• Reproductive Medicine
• Medical Diagnostics

Background:

• Infertility affects couples undergoing assisted reproductive technologies like in vitro fertilization (IVF) and intracytoplascial sperm injection (ICSI).
• Male and female infertility can stem from underlying chromosomal abnormalities.
• Cytogenetic analysis is crucial for diagnosing the root causes of reproductive challenges.

Purpose of the Study:

• To investigate the role of cytogenetic investigations in diagnosing infertility.
• To identify various chromosomal aberrations associated with infertility in couples.
• To highlight the prognostic value of cytogenetic findings in assisted reproduction.

Main Methods:

• Performing cytogenetic investigations on couples seeking IVF or ICSI treatment.
• Analyzing numerical chromosomal abnormalities (e.g., Klinefelter syndrome, Turner syndrome).
• Identifying sex chromosomal abnormalities (e.g., XX males, XY females) and structural rearrangements (e.g., translocations, inversions).

Main Results:

• Cytogenetic investigations reveal diverse chromosomal aberrations in infertile couples.
• Abnormalities include numerical issues like Klinefelter syndrome and structural changes like translocations.
• These findings are critical for understanding infertility and guiding reproductive choices.

Conclusions:

• Cytogenetic analysis is essential for diagnosing chromosomal origins of infertility in IVF/ICSI candidates.
• Identifying chromosomal aberrations provides prognostic information for pregnancy management.
• Results support the use of prenatal and preimplantation genetic diagnosis when indicated.