未能从产前母血清游离细胞 DNA 检测中获得结果的影响：一项历史队列研究。

Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study.

机构信息

Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Sydney Ultrasound for Women, Sydney, NSW, Australia.

出版信息

BJOG. 2018 Jun;125(7):848-855. doi: 10.1111/1471-0528.15006. Epub 2017 Dec 6.

DOI:10.1111/1471-0528.15006

PMID:29090507

Abstract

OBJECTIVE

To investigate the pregnancy outcomes in a cohort of women who failed to obtain a result in non-invasive prenatal testing (NIPT).

DESIGN

Historical cohort study.

SETTING

A multicentre private practice in Sydney, Australia.

POPULATION

Women who failed to obtain a result from NIPT (n = 131).

METHODS

The maternal characteristics, antenatal investigations and pregnancy outcomes for these women were compared with those who obtained a result at the same practice and to the general Australian obstetric population.

MAIN OUTCOME MEASURES

Antenatal investigations: pregnancy-associated plasma protein-A (PAPP-A), free β-human chorionic gonadotrophin (β-hCG), placental growth factor (PlGF), uterine artery pulsatility index (PI), mean arterial pressure (MAP). Pregnancy outcomes: chromosomal abnormality, pre-eclampsia, gestational diabetes, small-for-gestational-age (SGA), preterm delivery.

RESULTS

Only 1.1% of NIPT samples failed to return a result. This cohort was significantly older and had significantly increased weight compared with the general Australian obstetric population. Pregnancy outcomes were available for 94% of the cohort. There were significantly higher rates of chromosomal aneuploidies (6.5% versus 0.2%, P < 0.0001), pre-eclampsia (11% versus 1.5%, P < 0.0001) and gestational diabetes (23% versus 7.5%, P < 0.0001) compared with the general obstetric population. Rates of preterm delivery and SGA were elevated but did not reach significance. Antenatal investigations demonstrated decreased PAPP-A MoM (0.75 versus 1.14, P < 0.0001), decreased free β-hCG (0.71 versus 1.01, P < 0.0001) and increased uterine artery PI (1.79 versus 1.65, P = 0.02).

CONCLUSION

Women who fail to obtain a result from NIPT are at increased risk of adverse pregnancy outcomes, in particular chromosomal aneuploidy, gestational diabetes and pre-eclampsia.

FUNDING

None received.

TWEETABLE ABSTRACT

Women who fail to obtain a result from cell-free DNA NIPT are at increased risk of adverse pregnancy outcomes.

摘要

目的

调查未能从无创产前检测（NIPT）中获得结果的女性队列的妊娠结局。

设计

历史队列研究。

地点

澳大利亚悉尼的多中心私人诊所。

人群

未能从 NIPT 获得结果的女性（n=131）。

方法

将这些女性的母体特征、产前检查和妊娠结局与同一诊所获得结果的女性以及澳大利亚一般产科人群进行比较。

主要观察指标

产前检查：妊娠相关血浆蛋白-A（PAPP-A）、游离β-人绒毛膜促性腺激素（β-hCG）、胎盘生长因子（PlGF）、子宫动脉搏动指数（PI）、平均动脉压（MAP）。妊娠结局：染色体异常、子痫前期、妊娠期糖尿病、胎儿生长受限（SGA）、早产。

结果

只有 1.1%的 NIPT 样本未能返回结果。与澳大利亚一般产科人群相比，该队列年龄明显较大，体重明显增加。94%的队列获得了妊娠结局。染色体非整倍体的发生率明显较高（6.5%对 0.2%，P<0.0001），子痫前期（11%对 1.5%，P<0.0001）和妊娠期糖尿病（23%对 7.5%，P<0.0001）的发生率也明显较高。早产和 SGA 的发生率升高，但未达到显著水平。产前检查显示 PAPP-A MoM 降低（0.75 对 1.14，P<0.0001），游离β-hCG 降低（0.71 对 1.01，P<0.0001），子宫动脉 PI 升高（1.79 对 1.65，P=0.02）。