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子宫动脉多普勒波形异常和宫内生长受限患者血浆中游离胎儿DNA浓度——一项初步研究。

Cell-free fetal DNA concentration in plasma of patients with abnormal uterine artery Doppler waveform and intrauterine growth restriction--a pilot study.

作者信息

Caramelli Elisabetta, Rizzo Nicola, Concu Manuela, Simonazzi Giuliana, Carinci Paolo, Bondavalli Corrado, Bovicelli Luciano, Farina Antonio

机构信息

Institute of Histology and Embryology, University of Bologna, Bologna, Italy.

出版信息

Prenat Diagn. 2003 May;23(5):367-71. doi: 10.1002/pd.596.

DOI:10.1002/pd.596
PMID:12749031
Abstract

OBJECTIVE

To evaluate if an increased amount of fetal DNA concentration can be found in women screened positive for intrauterine growth restriction because of abnormal uterine artery Doppler waveforms.

METHODS

We enrolled eight pregnant women (each bearing a male fetus), with the evidence of abnormal uterine artery Doppler waveforms, and 16 control patients for a case-control study matched for gestational age (1 : 2). Uterine artery Doppler was carried out at 20 to 35 weeks' gestation (median 29). The mean uterine artery resistance index (RI) was subsequently calculated, and a value >0.6 was considered positive for the clinical features of pre-eclampsia. The SRY locus was used to determine the amount of male fetal DNA in the maternal plasma at the time of Doppler analysis.

RESULTS

Two controls (normal Doppler) were excluded from the final analysis because they had a pre-term delivery. One case (abnormal Doppler) had evidence of intrauterine growth restriction at the time of enrolment. In four out of eight cases (abnormal Doppler), intrauterine growth restriction was subsequently observed. Multiples of median (MoM) conversion of the fetal DNA values showed an increase of 1.81 times in the cases when compared to the controls. An increase of 2.16 times was instead observed for the cases with a growth-restricted fetus (5 cases out of 8) in comparison with the controls (14 cases).

CONCLUSIONS

In subjects positive to uterine artery Doppler velocimetry analysis (Doppler analysis for pre-eclampsia screening), the fetal DNA concentration is higher than expected, in the absence of any other clinical feature. Since the increase in fetal DNA seems to be related to the presence or to the future development of intrauterine growth restriction, this paper suggests a possible integration between ultrasound and molecular markers for predicting the disease in some cases.

摘要

目的

评估因子宫动脉多普勒波形异常而筛查出宫内生长受限阳性的女性体内胎儿DNA浓度是否增加。

方法

我们招募了8名孕妇(均怀有男胎),她们有子宫动脉多普勒波形异常的证据,以及16名对照患者进行病例对照研究,根据孕周进行匹配(1:2)。在妊娠20至35周(中位数为29周)时进行子宫动脉多普勒检查。随后计算子宫动脉平均阻力指数(RI),RI值>0.6被认为具有子痫前期的临床特征阳性。在进行多普勒分析时,使用SRY基因座来确定母体血浆中男性胎儿DNA的量。

结果

两名对照(多普勒正常)因早产被排除在最终分析之外。一名病例(多普勒异常)在入组时就有宫内生长受限的证据。在8例病例(多普勒异常)中有4例随后观察到宫内生长受限。与对照组相比,病例组胎儿DNA值的中位数倍数(MoM)转换增加了1.81倍。与对照组(14例)相比,有生长受限胎儿的病例(8例中的5例)增加了2.16倍。

结论

在子宫动脉多普勒测速分析阳性的受试者(用于子痫前期筛查的多普勒分析)中,在没有任何其他临床特征的情况下,胎儿DNA浓度高于预期。由于胎儿DNA的增加似乎与宫内生长受限的存在或未来发展有关,本文提出在某些情况下超声和分子标志物之间可能存在整合以预测该疾病。

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