Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

Journal of Clinical Medicine
Francesca R Grati

Abstract

Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS).

References

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Citations

Sep 8, 2016·Archives of Toxicology·Claudia GundackerMarkus Hengstschläger
Oct 30, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·W-J WuM Chen
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Jun 1, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·F R Grati
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Dec 1, 2020·Prenatal Diagnosis·Simon Horsholt ThomsenIda Vogel
Oct 4, 2019·European Journal of Medical Genetics·Ida VogelAnne Nødgaard Sørensen
Mar 7, 2021·International Journal of Molecular Sciences·Ornella RondinoneMonica Miozzo
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Aug 14, 2021·Prenatal Diagnosis·Anne H Mardy, Mary E Norton
Jul 19, 2021·Cytogenetic and Genome Research·Elisabet LloverasCristina Pérez

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Methods Mentioned

BETA
Fluorescence
electrophoresis

Software Mentioned

Genoglyphix

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