Tolerance of uncertainty: a unifying theme in pregnancy care.

Tolerance of uncertainty: a unifying theme in pregnancy care.
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DOI:
10.1111/1471-0528.16474
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发表时间:
2021-01
期刊:
BJOG : an international journal of obstetrics and gynaecology
影响因子:
--
通讯作者:
Gray KJ
Gray KJ
中科院分区:
其他
文献类型:
--
作者:
Gray KJ

文献摘要

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高危产科医生已经习惯了不确定性事实上,即使是我们遇到的最常见的临床情况,我们预测结果的能力也有限。例如:短宫颈何时会导致围产期分娩?早产胎膜早破后何时分娩?哪些巨大儿在阴道分娩时会发生肩难产?足月病人什么时候会自然分娩?遗传学是一种工具,在过去十年中极大地改变了产科医生的预测能力。扩大的载体筛查(ECS)检测夫妇谁是有风险的孩子与严重的,早发性遗传性疾病。无细胞胎儿DNA(即无创产前检测,NIPT)预测胎儿非整倍体早在10周妊娠。染色体微阵列(CMA)和外显子组测序(WES)诊断胎儿产前遗传疾病的结构异常,以前在出生后检测或根本没有。
High-risk obstetricians are accustomed to uncertainty—in fact, we have limited ability to predict the outcomes of even the most common clinical scenarios we encounter. For example: when will a short cervix lead to a periviable delivery? When will delivery occur following preterm premature rupture of membranes? Which macrosomic infants will experience a shoulder dystocia during vaginal birth? When will a term patient go into spontaneous labor?Genetics is a tool that has dramatically changed the predictive capabilities of obstetricians over the past decade. Expanded carrier screening (ECS) detects couples who are at risk for having children with a severe, early-onset heritable disease. Cell-free fetal DNA (ie, noninvasive prenatal testing, NIPT) predicts fetal aneuploidy as early as 10 weeks gestation. Chromosomal microarray (CMA) and exome sequencing (WES) diagnose prenatal genetic disorders in fetuses with structural anomalies that previously were detected postnatally or not at all.