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Determining the Role of Prenatal Diagnosis in Parents with Sex Chromosomal Aneuploidy: Review Article | Chapter 07 | New Horizons in Medicine and Medical Research Vol. 6

 The karyotypes 45,X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX; and 47,XYYY are all examples of sex chromosome aneuploidy, which is defined as a numeric aberration of an X or Y chromosome. Individuals with the numbers 47,XXX and 47,XXY are typically viable, however they may have a cytogenetically abnormal child. Turner and Klinefelter syndromes are frequently linked to infertility, however some women have been able to give birth to healthy children, and other kids have been born with chromosomal abnormalities.

0.1 percent of live-born female babies have Triple X syndrome. Only a few cases of congenital abnormalities have the 47,XXX karyotype, hence the majority of these newborn kids have a normal phenotype. Despite the fact that these female patients appear to be mainly viable, there appears to be an increased risk of having a cytogenetically abnormal kid; the magnitude of this risk cannot yet be determined; prenatal diagnosis and genetic study are therefore indicated. We describe a rare example of a triple X lady with a Down syndrome kid who was encouraged to get a prenatal diagnosis in her following pregnancy, as well as a study of other relevant studies to determine the relevance of prenatal diagnosis in parents of children with sex chromosomal abnormalities. Females with sex chromosomal abnormalities (SCA) should receive genetic counselling that addresses reproductive difficulties, particularly POF and the risk of transmission.

Author(S) Details

K. Pritti
Department Of Obstetrics and Gynecology, HL Trivedi Institute of Kidney Diseases and Research Centre and Institute of Transplantation Sciences, IKDRC-ITS, Ahmedabad, Gujarat, India.

M. Vineet
Department Of Obstetrics and Gynecology, HL Trivedi Institute of Kidney Diseases and Research Centre and Institute of Transplantation Sciences, IKDRC-ITS, Ahmedabad, Gujarat, India.

R. Priyankur
Department Of Obstetrics and Gynecology, HL Trivedi Institute of Kidney Diseases and Research Centre and Institute of Transplantation Sciences, IKDRC-ITS, Ahmedabad, Gujarat, India.

P. Hetvi
Department Of Obstetrics and Gynecology, HL Trivedi Institute of Kidney Diseases and Research Centre and Institute of Transplantation Sciences, IKDRC-ITS, Ahmedabad, Gujarat, India

View Book:- https://stm.bookpi.org/NHMMR-V6/article/view/6438


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