Male reproductive genetic profile
Men with a sperm count less than 5 million/ml may carry a chromosomal abnormality. A karyotype test (chromosome analysis) is carried out to ensure the karyotype is normal (46 XY)
An abnormal karyotype can be associated with infertility, miscarriage or foetal abnormality. Some of the abnormal karyotype necessitate Pre-implantation genetic diagnosis (PGD) during the IVF cycle in order to avoid having a baby with a chromosomal abnormality and reduce the risk of miscarriage.
Y chromosome analysis
Men with a sperm count less than 5 million/ml may also have a problem with the AZF genes on the Y chromosome. This test may influence the decision on whether or not to perform surgical sperm retrieval.
Cystic fibrosis screen (CFTR gene tests)
Mutations of the cystic fibrosis gene are involved in male infertility. Some causes of male infertility such as absence of the vas deferens are considered to be mild forms of cystic fibrosis disease.
It is important to screen the female partner of the affected male for CFTR gene mutations. If the female partner is found to be a carrier of a CFTR gene mutation, Pre-implantation genetic diagnosis (PGD) is necessary to avoid having a child with cystic fibrosis disease.
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