Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

被引：15

作者：

Doria, Sofia ^{[1
]}

Lima, Vera ^{[1
]}

Carvalho, Berta ^{[1
]}

Moreira, Maria Lina ^{[1
]}

Sousa, Mario ^{[2
]}

Barros, Alberto ^{[1
]}

Carvalho, Filipa ^{[1
]}

机构：

[1] Univ Porto, Fac Med, Dept Genet, P-4200319 Oporto, Portugal

[2] Univ Porto, Inst Biomed Sci Abel Salazar, Cell Biol Lab, Dept Microscopy,UMIB, P-4200319 Oporto, Portugal

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2010年 / 27卷 / 11期

关键词：

Touch FISH; Spontaneous miscarriages; Foetal death; Tetraploidy; Maternal contamination; Mosaicism; COMPARATIVE GENOMIC HYBRIDIZATION; SPONTANEOUS-ABORTIONS; CYTOGENETIC DIAGNOSIS; PRENATAL-DIAGNOSIS; CHORIONIC VILLI; INTERPHASE FISH; COMBINATION; KARYOTYPE; MLPA;

D O I：

10.1007/s10815-010-9460-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus. 328 cases of pregnancy losses were studied by karyotype and Multiplex Ligation Dependent Probe Amplification technique. Touch FISH performed in non-cultured cells was used to evaluate the ploidy complement and sex discrepancies using centromeric probes for chromosomes X, Y and 18. Touch FISH confirmed 13 cases of maternal contamination, identified a triploidy and a monosomy X. True tetraploidy was confirmed in 7/14 cases studied. Touch FISH protocol is extremely accurate in the distinction of genuine mosaicism from tissue culture artifacts namely in cases with suspicion of tetraploidy and can be used to confirm maternal cell contamination in cases with sex discrepancy between karyotype and MLPA.

引用

页码：657 / 662

页数：6

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