Chromosomal microarray analysis for the causes of miscarriage or stillbirth / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 389-391, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828318
ABSTRACT
OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.@*METHODS@#Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.@*RESULTS@#All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which included 312 (81.9%) numerical abnormalities, 66 (17.3%) structural abnormalities and 3 (0.8%) uniparental disomies. Among numerical chromosomal abnormalities, aneuploidies was most common (92.0%), with trisomy 16 and 45,X accounting for 41 (13.1%) and 63 (20.2%) of the cases, respectively. Among the 66 structural chromosomal aberrations, there were 26 (39.4%) CNVs duplications, 20 (30.3%) CNVs deletions, and 20 (30.3%) CNVs duplication and deletions. 33 CNVs were predicted as have a high chance to lead to a disease.@*CONCLUSION@#CMA is a reliable, robust, and high-resolution method for the analysis of miscarriage or stillbirth samples. Numerical aberrations, in particular chromosomal aneuploides, are the main cause for spontaneous abortions and stillbirths.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Aborto Espontâneo
/
Aberrações Cromossômicas
/
Transtornos Cromossômicos
/
Análise em Microsséries
/
Diagnóstico
/
Natimorto
/
Variações do Número de Cópias de DNA
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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