Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics
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DOI：
10.1002/uog.12331
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发表时间：
2013-01-01
影响因子：
7.1
通讯作者：
Nicolaides, K. H.
中科院分区：
文献类型：
--
作者：
Ashoor, G.;Syngelaki, A.;Nicolaides, K. H.
目的探讨母胎特征对孕妇血浆游离（cf）DNA 1113？这是一个非常简单的方法，它可以帮助孕妇在怀孕20周内进行非侵入性产前检测（NIPT），并估计由于胎儿分数低于4%而处于高风险的怀孕比例。方法在1949年单胎妊娠1113？从母体血浆中提取妊娠10周的cf-DNA。非多态性和多态性基因座的染色体选择性测序，其中胎儿等位基因不同于母体等位基因，用于确定胎儿来源的cf-DNA的比例。多元回归分析用于确定母亲和胎儿特征中胎儿分数的显著预测因素。结果胎儿分数随着母体体重的增加而降低，非裔加勒比血统女性的胎儿分数低于白人，并随着胎儿冠臀长度、血清妊娠相关血浆蛋白A、血清游离β-人绒毛膜促性腺激素、吸烟和21三体染色体核型的增加而增加。中位胎儿分数为10.0%（四分位距，7.8 - 13.0%），这与母亲体重从11.7%下降到60？160？kg时，下降到3.9%。kg.胎儿分数低于4%的估计比例增加与产妇体重从0.7%，在60？100？160？kg.结论母体血浆cf-DNA中胎儿分数受母体和胎儿特征的影响。由John Wiley & Sons有限公司出版
Objective To examine the possible effects of maternal and fetal characteristics on the fetal fraction in maternal plasma cell-free (cf) DNA at 1113?weeks' gestation and estimate the proportion of pregnancies at high risk of non-invasive prenatal testing (NIPT) failure because the fetal fraction is less than 4%. Methods In 1949 singleton pregnancies at 1113?weeks' gestation cf-DNA was extracted from maternal plasma. Chromosome-selective sequencing of non-polymorphic and polymorphic loci, where fetal alleles differ from maternal alleles, was used to determine the proportion of cf-DNA that was of fetal origin. Multivariable regression analysis was used to determine significant predictors of the fetal fraction among maternal and fetal characteristics. Results The fetal fraction decreased with increased maternal weight, it was lower in women of Afro-Caribbean origin than in Caucasians and increased with fetal crownrump length, serum pregnancy-associated plasma protein-A, serum free beta-human chorionic gonadotropin, smoking and trisomy 21 karyotype. The median fetal fraction was 10.0% (interquartile range, 7.813.0%) and this decreased with maternal weight from 11.7% at 60?kg to 3.9% at 160?kg. The estimated proportion with fetal fraction below 4% increased with maternal weight from 0.7% at 60?kg to 7.1% at 100?kg and 51.1% at 160?kg. Conclusions Fetal fraction in maternal plasma cf-DNA is affected by maternal and fetal characteristics.Copyright (c) 2012 ISUOG. Published by John Wiley & Sons, Ltd.