Welcome to IVF
Welcome to IVF
Welcome to IVF
-Characterization of chromosome anomalies, Y microdeletions and Cystic Fibrosis mutations in male infertility.
A significant proportion of male infertility is due to an underlying genetic cause. The use of intracytoplasmic sperm injection (ICSI) raises a possibility of transgenerational transmission of genetic defects to the offspring where the father has a genetic abnormality such as Y chromosome microdeletions. For proper management of these couples, counseling after clinical investigation, semen analysis, a karyotype and a DNA analysis to rule out Y chromosome microdeletions was carried out.

At least three distinct non-overlapping regions on the Y chromosome, named as AZFa, AZFb and AZFc for azoospermia factors a, b and c are critical for germ-cell differentiation. A fourth locus AZFd has been suggested afterwards which lies between loci AZFb and AZFc. Y chromosome microdeletion detection carried out on 245 males with a history of either azoospermia, severe oligozoospermia, oligozoospermia or oligoasthenoteratozoospermia (OAT) using the Promega Kit showed microdeletions in 20% men with azoospermia and 5% men in the OAT group. Sperm aneuploidy detection by FISH in 48 cases showed 3-20% aneuploidy in 15% cases. Structural and numerical chromosome abnormalities were detected in 3% of over 500 men karyotyped.