Sex Chromosomes Mosaicism Detection by Quantitative Fluorescent PCR Based Technique

Abstract

Background:The X and Y chromosomes may break the rules of meiosis resulting eggs or sperms with wrong number of sex chromosomes. Missing or extra copies of sex chromosomes into the zygote produced by such sperm and egg are supposed to be the cause of infertility, growth abnormalities, and, in some cases, behavioral and learning problems. Mosaics are possible for all types of sex chromosomes abnormalities (SCA). SCAs are detected before birth using different techniques, such as, combining fetal conventional cytogenetics, FISH and a new rapid method based on quantitative fluorescence polymerase chain reaction (QF-PCR) technology. Objectives: To assess low-level sex chromosome mosaicism using OF-PCR technique and to compare the data with the results of FISH and conventional cytogenetics. Methods: QF-PCR test for chromosome 13, 18, 21 trisomies and sex chromosomes aneuploidies detection was used. Results: Five sex chromosomes mosaicism cases were prenatally detected and another case of 45, X/47, XYY Turner's syndrome was reported by karyotype technique. Conclusions: The QF-PCR assay is a prenatal diagnosis technique that allows the rapid detection of selected chromosomes aneuploidies, thus relieving the maternal anxiety and facilitating options in pregnancy. Also the results confirm the ability of prenatal diagnosis method QF-PCR to provide rapidly reliable information about fetal sex chromosome mosaic state.