Genetic evaluation in infertility: Case of infertile couple with deletion and duplication of chromosome 9q12
Journal Title: Journal of Medical and Scientific Research - Year 2015, Vol 3, Issue 1
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
Authors and Affiliations
Nahar RL, Rangaraju A, Vyjayanthi S, Varalakshmi M, Bhushanam GVVSK
Keywords
Related Articles
- EP ID EP604643
- DOI 10.17727/JMSR.2015/3-004
- Views 97
- Downloads 0
Relationship between parathyroid hormone and serum creatinine levels in chronic kidney disease patients
Background: Chronic kidney disease (CKD) is a chronic and progressive disease characterized by renal dysfunction due to the decrease of the glomerular filtration rate (GFR). Hyperparathyroidism—an elevation of parathyroi...
Rare case of recurrent Kikuchi-Fujimoto disease
Kikuchi-Fujimoto disease (KFD), or histiocytic necrotizing lymphadenitis, is a rare benign, self-limiting cervical lymphadenitis of unknown etiology. It closely mimics infective and immunological disorders. Here a rare c...
Pineal parenchymal tumors: Case series
Background: Pineal parenchymal tumors (PPTs) are uncommon tumors comprising of pineocytoma (PC), pineal parenchymal tumor of intermediate differentiation (PPTID) and pineoblastoma (PB). Morphological sub typing and histo...
Cardiac biomarker detection based on nanostructured biosensors
Early and accurate detection of plasma borne cardiac biomarkers is essential for prevention of life threatening acute myocardial infarctions. Development of low cost and point of care platforms that can ensure ultrasensi...
A rare case of urosepsis in pregnancy
Urinary infections are common during pregnancy, affecting 10-15% of women and the infection is recurrent in up to 10% of women. The development of a renal abscess secondary to acute pyelonephritis is uncommon during preg...