Genetic anomalies can be the cause of severe sperm abnormalities in men. For most of these men to become fathers, they will need intracytoplasmic sperm injection ICSI, a laboratory process of injecting sperm directly into an egg with a tiny needle as part of in vitro fertilization IVF. Men with severe sperm abnormalities are also at higher risk of fathering children who inherit serious health problems, ranging from next-generation male infertility to cystic fibrosis. As ICSI has enabled more of these men to become fathers, the need to identify genetic problems in their sperm has become crucial in order to help them have the healthiest children possible. Two tests have become widely available for such circumstances: karyotype, blood testing for detection of chromosomal abnormalities, and pre-implantation genetic diagnosis PGD, for detection of possible abnormalities in embryos created from their sperm. Of course, few advanced medical treatments are risk-free. Studies have shown an association between ICSI and a very small increased risk — one percent — of having a child with a chromosome abnormality.
Male infertility, affecting around half of the couples with a problem to get pregnant, is a very heterogeneous condition. Part of patients are having a defect in spermatogenesis of which the underlying causes including genetic ones remain largely unknown. Various other single gene or polygenic defects have been proposed to be involved in male fertility. Yet, their causative effect often remains to be proven. The recent evolution in the development of whole genome-based techniques may help in clarifying the role of genes and other genetic factors involved in spermatogenesis and spermatogenesis defects. Male infertility can be either acquired or of congenital origin.
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