Prenatal diagnostic analysis of chromosome and copy number variation in one of the monozygotic twins with abnormal development
Objective By analyzing the prenatal diagnostic results of chromosome karyotype and gene copy number variation in one of the monozygotic twins,the genetic causes of the abnormal development of one of the monozygotic twins were discussed.Methods The cases of monozygotic twins who received interventional prenatal diagnosis in Guangzhou Medical University Affiliated Women and Children's Medical Center from 2013 to 2021 due to abnormal development of one of the twins were selected as research objects,and the chromosomal karyotype and chromosome microarray analysis(CMA)were performed and followed up.Results A total of 50 pairs(100 cases)of monozygotic twins were included in the study.Devel-opmental abnormalities in one of the twins included thickening of the nuchal transluncecy(NT),abnormal cardiac structure,fetal growth restrict(FGR),cleft lip and palate,and multiple malformations.There were 3 pairs(6 cases)of abnormal fetal chromosomes in prenatal diagnosis,the abnormal rate was 6.0％and the inconsistent rate was 2.0％.Conclusion In the cas-es of abnormal development of one of the monozygotic twins,the probability of the disease due to chromosome or gene abnormality is low,and the genetic material inconsistency rate of the twins is very low.Chromosome and gene copy number variation are not the main causes of phenotypic differences in twins.
Monozygotic twinsAbnormal developmentCopy number variationChromosomal karyotype
万方数据
维普
