title: Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.
abstract: A number of genetic and environmental factors are taken into account as responsible for intrauterine growth restriction (IUGR); nevertheless, the relevance of genetic alteration in IUGR aetiology remains to be determined. The aim of this study was to investigate using a combined cytogenetic-molecular approach, improved by a new application of QF-PCR method, the presence of mosaic chromosomal changes in fetal/placental samples from 12 pregnancies with unexplained severe IUGR. This multiple approach allowed us to reveal and quantify subtle chromosomal mosaicisms with less than 5% of trisomic cells even in cases in which cytogenetic and FISH analyses failed to reveal them. These are three pregnancies with a mosaic trisomy for chromosomes 7, 2 and 14; the former case presented matUPD7 and was previously described in this journal (Placenta 22 (2001) 813) in association with pre- and postnatal growth restriction. It is intriguing that chromosomes 7, 2 and 14 are known or suspected to harbour imprinted genes, so that an unbalanced gene dosage in a subset of cells during embryonic development could lead to an early impairment of placental function. Our findings indicate that extensive molecular and cytogenetic studies of IUGR fetal and placental tissues are necessary to reveal at least part of the heterogeneous genetic lesions implicated in IUGR phenotypes.
authors.affiliation: Cattedra di Genetica Medica, Dipartimento di Medicina, Chirurgia ed Odontoiatria, Polo San Paolo, Università degli Studi di Milano, Milan, Italy.
authors.forename: F R
authors.initials: FR
authors.lastname: Grati
authors.forename: M
authors.initials: M
authors.lastname: Miozzo
authors.forename: B
authors.initials: B
authors.lastname: Cassani
authors.forename: F
authors.initials: F
authors.lastname: Rossella
authors.forename: P
authors.initials: P
authors.lastname: Antonazzo
authors.forename: B
authors.initials: B
authors.lastname: Gentilin
authors.forename: S M
authors.initials: SM
authors.lastname: Sirchia
authors.forename: L
authors.initials: L
authors.lastname: Mori
authors.forename: S
authors.initials: S
authors.lastname: Rigano
authors.forename: G
authors.initials: G
authors.lastname: Bulfamante
authors.forename: I
authors.initials: I
authors.lastname: Cetin
authors.forename: G
authors.initials: G
authors.lastname: Simoni
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding; D002877:Chromosomes, Human; D005260:Female; D047109:Fetal Development / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D005453:Fluorescence; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007963:Leukocytes, Mononuclear; D008297:Male; D009030:Mosaicism / Q000196:embryology*; D010641:Phenotype; D010920:Placenta / Q000473:pathology; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D020080:Tandem Repeat Sequences / Q000235:genetics; D014463:Ultrasonography