女性在非侵入性产前检测（唐氏综合征筛查）中的选择：英国引入前某单一中心的结果。

Women's choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England.

机构信息

Department of Maternal and Fetal Medicine, University College London Institute for Women's Health, London, UK.

Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK.

出版信息

Arch Dis Child. 2020 Jan;105(1):47-52. doi: 10.1136/archdischild-2019-317031. Epub 2019 Jun 26.

DOI:10.1136/archdischild-2019-317031

PMID:31243005

Abstract

OBJECTIVE

To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.

METHOD

We retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a 'high-chance' of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee.

RESULTS

Of 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100-150, 1:50-99, 1:10-49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing.

CONCLUSION

Implementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result.

摘要

目的

评估在应急模式下提供的非侵入性产前检测（NIPT）用于非整倍体筛查的患者选择和接受情况，该检测作为常规护理的一部分。

方法

我们回顾性分析了在 18 个月的时间内，所有接受常规早孕期筛查的单胎妊娠女性的数据。对于三体 21、18 或 13 （≥1:150）的“高风险”女性，根据英国国家筛查委员会推荐的筛查途径，提供不进行进一步检测、NIPT 或侵入性检测的选择。

结果

在 9342 名接受早孕期超声扫描的女性中，有 7939 名女性纳入本研究。其中，352 名女性的三体 21 筛查结果为高风险，291 名（82.7%）选择了 NIPT。选择 NIPT 的女性比例随着三体 21 的可能性增加而降低：风险为 1:100-150、1:50-99、1:10-49 和>1:10 的女性中，NIPT 的接受率分别为 93.2%、90.0%、77.1%和 47.2%。516 名女性（5.5%）在私立部门接受了初级 NIPT 筛查，638 名女性（6.8%）拒绝任何非整倍体筛查或检测。