Noninvasively diagnosing for fetal trisomy 21 by examining heterozygous single nucleotide polymorphisms in the placental specific genes on chromosome 21.
Objective: Noninvasive prenatal diagnosing for fetal trisomy 21 could help to avoid unnecessary amniocentesis. It is feasible to target the cell-free placental-specific mRNA in maternal plasma, thus eliminating the interference from the maternal genetic background.Study Design: In this study, placen...
| Publicado en: | European Journal of Obstetrics & Gynecology & Reproductive Biology Vol. 233; pp. 19 - 26 |
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| Autores principales: | , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Elsevier B.V.
Feb2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=134354033&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 134354033 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 03012115 3KK jtl: European Journal of Obstetrics & Gynecology & Reproductive Biology issn: 03012115 maglogo: N pubinfo: dt: Feb2019 vid: 233 pid: 1004 pub: Elsevier B.V. artinfo: ui: 134354033 134354033 NLM30544028 134354033 10.1016/j.ejogrb.2018.09.015 NLM30544028 134354033 ppf: 19 ppct: 7 formats: tig: atl: Noninvasively diagnosing for fetal trisomy 21 by examining heterozygous single nucleotide polymorphisms in the placental specific genes on chromosome 21. aug: au: Zhou, Fan Liu, Shanling Wang, He affil: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China sug: subj: RNA Blood Down Syndrome Diagnosis Prenatal Diagnosis Methods Pregnancy Polymorphism, Genetic Case Control Studies Female Gestational Age Down Syndrome Predictive Value of Tests Karyotyping Female ab: Objective: Noninvasive prenatal diagnosing for fetal trisomy 21 could help to avoid unnecessary amniocentesis. It is feasible to target the cell-free placental-specific mRNA in maternal plasma, thus eliminating the interference from the maternal genetic background.Study Design: In this study, placental-specific genes on chromosome 21 were identified by searching the TiGER database and reviewing the published literature. These cell-free placental-specific mRNA fragments in maternal plasma were amplified and sequenced. Then, the allelic ratio of heterozygous single-nucleotide polymorphisms(SNPs) was analyzed.Results: Four placental-specific genes (DNMT3L, KRTAP26-1, PLAC4, DSCR4) were identified. This study included 42 cases of normal pregnancies and 19 cases of trisomy 21 pregnancies. The probability density function showed that the allelic ratio of heterozygous SNPs in normal pregnancy reached a peak at 1.0, and that in the trisomy 21 pregnancy was a double-peaked curve in both 0.5 and 2.0. However, the allelic ratio of heterozygous SNPs demonstrated no statistical difference between the normal and trisomy 21 pregnancies.Conclusion: Fetal trisomy 21 could not be diagnosed by examining the heterozygous SNPs of cell-free placental-specific mRNA on chromosome 21. This might be because the low quantity and quality of cell-free placental-specific mRNA fragments in maternal plasma, and the limited available heterozygous SNPs on the placental-specific genes. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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