West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Genetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT, UK.
Genet Res (Camb). 2020 Sep 1;102:e7. doi: 10.1017/S0016672320000087.
Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reasons for and results of cytogenomic investigations carried out within UK genetic laboratories following an NIPT result indicating increased chance of cytogenomic abnormality ('high-chance NIPT result').
A questionnaire was sent out to 24 genetics laboratories in the UK and completed by 18/24 (75%).
Data were returned representing 1831 singleton pregnancies. A total of 1329 (73%) invasive samples were taken following NIPT results showing a high chance of trisomy 21; this was confirmed in 1305 (98%) of these by invasive sampling. Trisomy 21 was confirmed in >99% of patients who also had high-screen risk results or abnormal scan findings. Amongst invasive samples taken due to NIPT results indicating a high chance of trisomy 18, 84% yielded a compatible result, and this number dropped to 49% for trisomy 13 and 51% for sex chromosomes.
In the UK, the majority of patients having invasive sampling for high-chance NIPT results are doing so following an NIPT result indicating an increased chance of common trisomies (92%). In this population, NIPT performs particularly well for trisomy 21, but less well for other indications.
非侵入性产前检测（NIPT）在英国越来越多地被用作筛查检测，目前可通过某些国民保健制度医疗系统或私人提供的服务获得。本审计旨在描述在 NIPT 结果提示存在细胞遗传学异常高风险（“高风险 NIPT 结果”）后，英国遗传实验室进行细胞遗传学调查的原因和结果。
向英国的 24 家遗传实验室发送了一份问卷，其中 18/24（75%）实验室完成了问卷。
共代表 1831 例单胎妊娠的数据返回。在 NIPT 结果提示三体 21 高风险的情况下，共进行了 1329 次（73%）侵袭性采样；通过侵袭性采样在这些样本中确认了 1305 次（98%）。在高筛查风险结果或异常扫描发现的情况下，也有超过 99%的患者确认存在三体 21。在因 NIPT 结果提示三体 18 高风险而进行的侵袭性采样中，84%的结果与该检测相符，而对于三体 13 和性染色体，这一数字分别下降至 49%和 51%。
在英国，大多数因 NIPT 结果提示高风险而进行侵袭性采样的患者是因为 NIPT 结果提示常见三体异常的风险增加（92%）。在该人群中，NIPT 对三体 21 的检测效果特别好，但对其他指标的检测效果较差。
