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Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions

Zhu, Jiansheng ; Liu, Hui ; Tang, Junxiang ; Riaz Khan, Muhammad ; Wang, Baolong ; Bukhari, Ihtisham

British journal of biomedical science, 2016-07, Vol.73 (2), p.67-73 [Periódico revisado por pares]

England: Taylor & Francis

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Título:
Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions
Autor: Zhu, Jiansheng ; Liu, Hui ; Tang, Junxiang ; Riaz Khan, Muhammad ; Wang, Baolong ; Bukhari, Ihtisham
Assuntos: Abortion ; Abortion, Spontaneous - genetics ; Childrens health ; chromosomal abnormalities ; Chromosome Aberrations ; Chromosomes ; Chromosomes, Human - genetics ; Congenital Abnormalities - genetics ; Defects ; Ethics ; Female ; foetal diagnosis ; Genetic Predisposition to Disease - genetics ; Genomes ; Genotype & phenotype ; Hospitals ; Humans ; karyotyping ; Maternal & child health ; Miscarriage ; Polymorphism, Single Nucleotide - genetics ; Polyploidy ; Pregnancy ; Pregnancy loss ; Prenatal Diagnosis - methods ; Reproducibility of Results ; Sensitivity and Specificity ; SNP array
É parte de: British journal of biomedical science, 2016-07, Vol.73 (2), p.67-73
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Background: Chromosomal abnormalities are the most common cause of recurrent abortions and miscarriages (RAM), but micro-variations on chromosomes causing RAM have never been previously studied. Single nucleotide polymorphisms (SNPs) are the single nucleotide variations frequently present at genome with the density of at least one common (>20% allele frequency) SNP per kilobase pair. It has already been reported that SNP array examination for chromosomal abnormalities has better performance than the conventional cytogenetic karyotyping. Methods: We applied SNP array to detect the chromosomal defects in 80 placental villi and foetal tissues of abnormal foetus and spontaneous abortions. Results: The analyses of data revealed that total 52.5% (42/80) cases were found to have chromosomal abnormalities. The trisomies were most commonly found 26/42 (61.9%) in current samples. Total 8/42 (19.1%) cases were found to have other structural aberrations including translocations in 2/8 (25%), duplications and deletions in 3/8 (37.5%) cases, respectively. SNP analysis also successfully detected triploidy 69,XXX and tetraploidy 92,XXXY. Total 12/80 cases were performed by cytogenetic karyotyping and results were compared with SNP data. Total 5/12 (41.7%) cases were found to have same findings with SNP data while results of 2/12 (16.7%) cases had partial similarity between both techniques. Four cases were declared as karyotypically normal (46,XY or 46,XX) by cytogenetic examination, but later on these four cases were found to have small chromosomal variation which could be the cause of RAM in women. Conclusion: Therefore, we conclude that use of a high-density SNP platform in diagnosis can give better understanding of molecular causes of pregnancy loss and foetal abnormalities.
Editor: England: Taylor & Francis
Idioma: Inglês

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Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions

Zhu, Jiansheng ; Liu, Hui ; Tang, Junxiang ; Riaz Khan, Muhammad ; Wang, Baolong ; Bukhari, Ihtisham

England: Taylor & Francis

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