title: Prognostic value of Y deletion analysis: How reliable is the outcome of Y deletion analysis in providing a sound prognosis?
abstract: Y chromosomal microdeletions at the azoospermia factor (AZF) locus have been implicated as one of the major causes of idiopathic male infertility. The availability of intracytoplasmic sperm injection (ICSI) in treating a variety of male infertility has raised the risk of the transmission of Y microdeletions from father to son. In many IVF centres, Y microdeletion analysis has been used as a diagnostic tool for genetic counselling of infertile couples. Presently, the only prognosis that can be derived from Y microdeletion analysis is that the affected male offspring would benefit from proper clinical management of their infertility. Prognoses based on the pattern of Y microdeletions in relation to phenotype are rather subjective and inconclusive because of insufficient data to derive a definitive correlation whose significance can be determined by statistical analysis. Standardization of the number and choice of sequence-tagged sites (STS), whose deletions result in defective spermatogenesis, for the polymerase chain reaction (PCR) analysis of Y microdeletions would enhance its reliability in the interpretation of the results which is crucial for therapeutic decision-making. Furthermore, in-depth understanding of the gene functions in male infertility, especially at the AZF locus, would contribute greatly to the quality of the prognostic value of Y microdeletion analysis.
authors.affiliation: Department of Obstetrics and Gynaecology, National University Hospital, Lower Kent Ridge Road, Singapore 119074.
authors.forename: S L
authors.initials: SL
authors.lastname: Liow
authors.forename: E L
authors.initials: EL
authors.lastname: Yong
authors.forename: S C
authors.initials: SC
authors.lastname: Ng
mesh_terms: D002872:Chromosome Deletion; D005260:Female; D005817:Genetic Counseling; D005821:Genetic Techniques; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011379:Prognosis; D015203:Reproducibility of Results; D014998:Y Chromosome / Q000235:genetics*