title: Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.
abstract: Spontaneous abortion (SA) is the loss of the conceptus before 22 weeks of gestation when fetal weight is less than 500 g. The genetic etiology accounts for more than two third of SA, and autosomal aneuploidies alone account for up to 70% fetal loss. The aim of this study was to highlight the most common chromosomal causes of fetal loss. In this study, 220 products of abortion and in utero fetal death were analyzed by using FISH (AneuVysion) on interphase nuclei from chorionic villus and by using MLPA (SALSA P036, P070 and P245 kits) on DNA extracted from fetal tissues. The gestational age ranged from the 7th to the 38th week of gestation. Of a total of 151 samples analyzed by using FISH, 10 chromosomal abnormalities were observed: four trisomies 21 (one of them was mosaic), a trisomy 18, a trisomy 13, three triploidies and one monosomy X (Turner). From the additional 69 samples analyzed by using MLPA, two anomalies were found: two monosomies X (Turner). FISH and MLPA are simple, rapid and sensitive tools for the detection of chromosomal aneuploidies. Avoiding the cell culture step necessary for karyotyping, they represent very interesting alternative methods to diagnose genomic disorders in products of abortion in which poor sample quality often leads to cell culture failure.
authors.affiliation: UFR médecine, cytologie, histologie, embryologie cytogénétique, université Clermont 1, 63001 Clermont-Ferrand, France; Service de cytogénétique médicale, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; ERTICA EA4677, UFR médecine, université Clermont 1, 63003 Clermont-Ferrand, France; Laboratoire de biotoxicologie, université Djillali Liabès, BP 89, Faubourg Larbi Ben M'Hidi, Sidi Bel Abbès, Algeria.
authors.forename: K
authors.initials: K
authors.lastname: Haoud
authors.affiliation: Laboratoire de biotoxicologie, université Djillali Liabès, BP 89, Faubourg Larbi Ben M'Hidi, Sidi Bel Abbès, Algeria.
authors.forename: S
authors.initials: S
authors.lastname: Mellali
authors.affiliation: UFR médecine, cytologie, histologie, embryologie cytogénétique, université Clermont 1, 63001 Clermont-Ferrand, France; Service de cytogénétique médicale, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; ERTICA EA4677, UFR médecine, université Clermont 1, 63003 Clermont-Ferrand, France.
authors.forename: L
authors.initials: L
authors.lastname: Gouas
authors.affiliation: UFR médecine, cytologie, histologie, embryologie cytogénétique, université Clermont 1, 63001 Clermont-Ferrand, France; Service de cytogénétique médicale, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; ERTICA EA4677, UFR médecine, université Clermont 1, 63003 Clermont-Ferrand, France.
authors.forename: A
authors.initials: A
authors.lastname: Tchirkov
authors.affiliation: UFR médecine, cytologie, histologie, embryologie cytogénétique, université Clermont 1, 63001 Clermont-Ferrand, France; Service de cytogénétique médicale, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; ERTICA EA4677, UFR médecine, université Clermont 1, 63003 Clermont-Ferrand, France. Electronic address: pvago@chu-clermontferrand.fr.
authors.forename: P
authors.initials: P
authors.lastname: Vago
authors.affiliation: Laboratoire de biotoxicologie, université Djillali Liabès, BP 89, Faubourg Larbi Ben M'Hidi, Sidi Bel Abbès, Algeria.
authors.forename: S
authors.initials: S
authors.lastname: Moulessehoul
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D055815:Young Adult
keywords: Aneuploidy; Aneuploïdie; Avortement spontané; FISH; MLPA; Spontaneous abortion