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Title of Journal: Arch Gynecol Obstet

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Abbravation: Archives of Gynecology and Obstetrics

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Springer Berlin Heidelberg

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1432-0711

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Development of noninvasive prenatal diagnosis of t

Authors: Peiqiong Li Jun Zhang Jianhui Fan Yuanzhi Zhang Hongying Hou
Publish Date: 2013/07/05
Volume: 289, Issue: 1, Pages: 67-73
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Abstract

Placental mRNA can now be detected in maternal whole blood raising the possibility of using maternal blood for noninvasive prenatal diagnosis NIPD of trisomy 21 We aimed to identify new mRNAsingle nucleotide polymorphism mRNASNP markers suitable for use in reversetranscriptase multiplex ligationdependent probe amplification RTMLPA to develop a more reliable diagnostic method for trisomy 21 in Chinese subjectsUsing sequencing we determined the status of SNPs in genes expressed in the placenta and calculated their heterozygote frequencies to determine which loci were suitable for use in RTMLPA Cellfree fetal RNA was extracted from peripheral blood samples of 246 women at 12–24 weeks of pregnancy and the SNP loci selected were analyzed by RTMLPA followed by capillary electrophoresis Karyotype analyses were used to confirm the diagnosis of trisomy 21The RTMLPA technique is a suitable and reliable method for the diagnosis of trisomy 21 Use of RTMLPA with the SNP markers described here shows good specificity high sensitivity and high throughput potential making this technique suitable for NIPD in clinical practiceThis study was supported by The Medical and Scientific Fund from Guangdong Province Grant No B2009076 The Scientific Plan Fund from Guangdong Province Grant No 2009B060700107 and The Doctor Development Fund in Guangzhou Medical University Grant No L95042

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