Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
Sydney Ultrasound for Women, Sydney, NSW, Australia.
BJOG. 2018 Jun;125(7):848-855. doi: 10.1111/1471-0528.15006. Epub 2017 Dec 6.
To investigate the pregnancy outcomes in a cohort of women who failed to obtain a result in non-invasive prenatal testing (NIPT).
Historical cohort study.
A multicentre private practice in Sydney, Australia.
Women who failed to obtain a result from NIPT (n = 131).
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.
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.
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).
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.
None received.
Women who fail to obtain a result from cell-free DNA NIPT are at increased risk of adverse pregnancy outcomes.
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。
历史队列研究。
澳大利亚悉尼的多中心私人诊所。
未能从 NIPT 获得结果的女性（n=131）。
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。
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。
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）。
未能从游离细胞 DNA NIPT 中获得结果的女性发生不良妊娠结局的风险增加，特别是染色体非整倍体、妊娠期糖尿病和子痫前期。
无。
未能从游离 DNA NIPT 中获得结果的女性发生不良妊娠结局的风险增加。
