Genetic screening for infertility: When should it be done?

Depending on the clinical findings, the infertile male patient needs genetic evaluation. Karyotype analysis and Y-chromosomal microdeletion screening should be performed in patients with azoospermia or severe oligozoospermia in order to rule out structural chromosomal abnormalities, Klinefelter syndrome and Y chromosome microdeletions. Infertile patients with obstructive azoospermia need cystic fibrosis transmembrane receptor gene screening, while in patients with hypogonadotropic hypogonadism mutation screening may be performed according to clinical features. All genetic analyses should be accompanied by expert counseling by a clinical genetist both in male and female patients.Primary amenorrhea should be investigated by karyotype analysis and selected mutation screening according to the patient's clinical features. Karyotype analyses and FMR1 gene screening is recommended in cases of POF. At present the infertility of patients with POF cannot be restored if the diagnosis is made after complete follicular depletion, but in some cases, early diagnosis by genetic investigation may instead lead to the advice of early conception or oocyte harvesting and preservation. In addition, the accumulation and annotation of array comparative genomic hybridization data might, in the near future, lead to the identification of pathogenetic copy number variations and genes involved in POF. Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss. No routine genetic test can be recommended so far in patients with PCOS.