Genetic evaluation in infertility: Case of infertile couple with deletion and duplication of chromosome 9q12

Abstract

Infertility is defined as the inability of women to ever bear a child or become pregnant after one year unprotected sexual intercourse or carry a pregnancy to a live birth. Genetic counseling can increase a couple's chance of having a healthy baby. Some forms of infertility, particularly sperm abnormalities in males and oligomenorrhoea/ amenorrhoea in females have a genetic basis. Couples with these forms of infertility may be at increased risk for transmitting infertility to their children, for having a miscarriage or for having a child with a serious genetic condition. Based on international guidelines for appropriate use of genetic testing in infertility, cytogenetic testing is strongly advised in all cases of infertility. Apart from this, there are several other molecular genetic tests such as Y chromosome deletions, FRAX-A, CFTR gene analysis that are recommended during diagnostic work up of infertility and prior to ART. In the present paper, we report a case of an infertile couple who were referred for genetic evaluation for infertility prior to ART. The husband had a partial trisomy of 9q12 heterochromatin region [46,XY,dup(9)(q12)] while the wife had a partial monosomy of the same 9q12 heterochromatin region [46,XX,del(9)(q12)]. The case discussion emphasizes the role of genetic testing and counseling in infertility cases to determine the etiology of infertility, determination of risk of genetically abnormal offspring. This helps the couple make an informed choice regarding their reproductive choices. Genetic testing and genetic counselling should always be part of an extensive evaluation of infertile couples, especially those opting for ART. Keywords: Genetic evaluation; infertility; deletion and duplication of chromosome 9q12