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Genetic testing of chorionic villi from abortuses during early pregnancy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 547-551, 2019.
Article Dans Chinois | WPRIM | ID: wpr-771972
ABSTRACT
OBJECTIVE@#To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).@*METHODS@#For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.@*RESULTS@#In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.@*CONCLUSION@#Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Dépistage génétique / Villosités choriales / Aberrations des chromosomes / Maladies chromosomiques / Polymorphisme de nucléotide simple / Variations de nombre de copies de segment d'ADN / Caryotypage Type d'étude: Étude pronostique Limites du sujet: Femelle / Humains / Grossesse langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Dépistage génétique / Villosités choriales / Aberrations des chromosomes / Maladies chromosomiques / Polymorphisme de nucléotide simple / Variations de nombre de copies de segment d'ADN / Caryotypage Type d'étude: Étude pronostique Limites du sujet: Femelle / Humains / Grossesse langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article