Document Detail

Noninvasive prenatal diagnosis of Down syndrome in samples from Southwest Chinese gravidas using pregnant plasma placental RNA allelic ratio.
MedLine Citation:
PMID:  22924494     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The purpose of this research was to attempt a preliminary study of noninvasive prenatal diagnosis of Down syndrome in Southwest Chinese gravidas by using the plasma placental RNA allelic ratio.
METHODS: The genotypes of the single-nucleotide polymorphisms (SNPs) located in the transcribed regions of the gene PLAC4 were detected in population samples collected in Southwest China by using polymerase chain reaction-restriction fragment length polymorphism, and SNPs with a higher heterozygosity were selected. Mass spectrometer analysis was adopted, and cases with the heterozygous SNPs on PLAC4 mRNA in maternal plasma were selected from 29 pregnancies with a euploid fetus and from 21 pregnancies with a trisomy-21 fetus, and then their RNA-SNP allelic ratios were further determined for noninvasive prenatal diagnosis of Down syndrome.
RESULTS: Of all 50 singleton pregnancies, 37 gravidas were found with at least one heterozygous SNP on PLAC4 mRNA in maternal plasma. Among them, 13 pregnancies with a trisomy-21 fetus were detected by the analysis of the RNA-SNP allelic ratio.
CONCLUSION: The plasma placental RNA allelic ratio can be used for noninvasive prenatal diagnosis of Down syndrome, if SNPs on PLAC4 mRNA in maternal plasma are heterozygous.
Youcheng Zhang; Hongqian Liu; Xinlian Chen; Xiaoyan Xie; Shanling Liu; He Wang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-08-27
Journal Detail:
Title:  Genetic testing and molecular biomarkers     Volume:  16     ISSN:  1945-0257     ISO Abbreviation:  Genet Test Mol Biomarkers     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-09-11     Completed Date:  2013-01-22     Revised Date:  2013-09-03    
Medline Journal Info:
Nlm Unique ID:  101494210     Medline TA:  Genet Test Mol Biomarkers     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1051-7     Citation Subset:  IM    
Prenatal Diagnosis Center, Key Laboratory of Ob/Gyn and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, P.R. China.
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MeSH Terms
Asian Continental Ancestry Group / genetics*
Down Syndrome / diagnosis*,  genetics
Gene Frequency
Polymorphism, Single Nucleotide / genetics*
Pregnancy Proteins / blood,  genetics*
Prenatal Diagnosis / methods*
RNA, Messenger / blood*,  genetics
Reg. No./Substance:
0/Pregnancy Proteins; 0/RNA, Messenger

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