Prenatal Diagnosis of Lesch-Nyhan Syndrome

Abstract

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder that is transmitted by asymptomatic carrier females [1, 2]. Except for one case of a female with the LNS [3], in every family reported, transmission of the disease has been through the female to the affected male. The devastating neurological symptoms of this incurable disease makes its prevention of paramount importance. Prevention of LNS can be sought by means of detection of female carriers for hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency and prenatal diagnosis. In families with one child or more affected by LNS, potential carriers must be screened for a deficient activity of HGPRT. The theoretical chance that a male fetus of a pregnant female carrier of LNS suffers the enzymatic defect is 50% and female carriers may ask for information about the risk of having offspring with this genetic disease. Antenatal diagnosis must be offered early because if an abortion is chosen it should take place at a stage of pregnancy when maternal — fetal bonding is less.