Haoud K, Mellali S, Gouas L, Tchirkov A, Vago P, Moulessehoul S
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.
Laboratoire de biotoxicologie, université Djillali Liabès, BP 89, Faubourg Larbi Ben M'Hidi, Sidi Bel Abbès, Algeria.
Morphologie. 2014 Mar;98(320):40-6. doi: 10.1016/j.morpho.2014.02.001. Epub 2014 Mar 16.
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.
自然流产（SA）是指妊娠22周前胎儿体重小于500g时胚胎丢失的情况。遗传病因占自然流产的三分之二以上，仅常染色体非整倍体就导致高达70%的胎儿丢失。本研究的目的是突出导致胎儿丢失的最常见染色体原因。在本研究中，对220例流产产物和宫内胎儿死亡样本进行了分析，通过对绒毛膜绒毛间期核使用荧光原位杂交（FISH，AneuVysion）以及对从胎儿组织提取的DNA使用多重连接依赖探针扩增技术（MLPA，SALSA P036、P070和P245试剂盒）。妊娠周龄范围为妊娠第7周至第38周。在总共151例使用FISH分析的样本中，观察到10种染色体异常：4例21三体（其中1例为嵌合体）、1例18三体、1例13三体、3例三倍体和1例X单体（特纳综合征）。在另外69例使用MLPA分析的样本中，发现2例异常：2例X单体（特纳综合征）。FISH和MLPA是检测染色体非整倍体的简单、快速且灵敏的工具。它们无需核型分析所需的细胞培养步骤，对于诊断流产产物中的基因组疾病而言是非常有吸引力的替代方法，因为样本质量差常常导致流产产物细胞培养失败。
