Determining the Role of Prenatal Diagnosis in Parents with Sex Chromosomal Aneuploidy: Review Article

Abstract

Sex chromosome aneuploidy is described as a numeric abnormality of an X or Y chromosome and includes 45,X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX; and 47,XYY karyotypes.  Individuals with the numbers 47,XXX and 47,XXY are normally viable, but there is a chance that they will have a cytogenetically aberrant child.  Turner and Klinefelter syndromes are commonly associated with infertility, but in a few cases, those who were able to give birth to a normal child, and some babies were born with similar or another chromosomal abnormality.

Triple X syndrome affects 0.1% of live-born female newborns. The majority of these newborn babies have a normal phenotype, with only a few cases of congenital malformations having the 47,XXX karyotype. Although these female patients appear to be mostly fertile, there appears to be an enhanced risk of having a cytogenetically abnormal child; the extent of this danger cannot yet be ascertained; prenatal diagnosis and genetic analysis is thus recommended. We present a rare case of a triple X woman with a history of Down syndrome child who was advised to have a prenatal diagnosis in her subsequent pregnancy, as well as a review of other relevant articles to determine the role of prenatal diagnosis in parents with sex chromosomal abnormality.  Genetic counseling for sex chromosomal abnormality (SCA) females, should address reproductive issues, specifically POF and the risk of transmission.