Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Prenat Diagn. 2020 Apr;40(5):618-625. doi: 10.1002/pd.5661. Epub 2020 Feb 21.
To (a) evaluate the proportion of women where a unifying genetic diagnosis was obtained following assessment of an observed pattern of fetal anomalies and (b) assess trends in genetic testing in a joint fetal-medicine genetic clinic.
Retrospective cohort study of all women attending the clinic. Outcomes included (a) indication for referral, (b) genetic test performed and (c) diagnoses obtained.
From 2008 to 2019, 256 patients were referred and reviewed, of which 23% (n = 59) were consanguineous. The main indication for referral was the observed pattern of fetal anomalies. Over 10 years, the number of patients reviewed increased from 11 to 35 per annum. A unifying genetic diagnosis was obtained in 43.2% (n = 79/183), the majority of which were diagnosed prenatally (50.6% [n = 40/79]). The main investigation(s) that was the ultimate diagnostic test was targeted gene panel sequencing 34.2% (n = 27/79), with this and exome sequencing becoming the dominant genetic test by 2019. Pregnancies reviewed due to an abnormal karyotype or microarray decreased as an indication for referral during the study period (21.6% [n = 16/74] 2008-2012 vs 16.5% [n = 30/182] in 2012-2019).
A prenatal genetic clinic with a structured multi-disciplinary team approach may be successful in obtaining a unifying prenatal genetic diagnosis.
（a）评估在评估胎儿畸形的观察模式后获得统一遗传诊断的女性比例，以及（b）评估联合胎儿医学遗传诊所中遗传检测的趋势。
对所有在诊所就诊的女性进行回顾性队列研究。结果包括（a）转诊指征，（b）进行的遗传检测以及（c）获得的诊断。
2008 年至 2019 年，共有 256 名患者被转诊并接受了检查，其中 23%（n=59）为近亲结婚。转诊的主要指征是胎儿畸形的观察模式。在过去 10 年中，每年接受检查的患者人数从 11 人增加到 35 人。43.2%（n=79/183）获得了统一的遗传诊断，其中大多数是在产前诊断的（50.6%[n=40/79]）。最终诊断测试主要是靶向基因panel 测序 34.2%（n=27/79），到 2019 年，该方法和外显子组测序成为主要的遗传检测方法。由于异常核型或微阵列而接受检查的妊娠作为转诊指征在研究期间减少（21.6%[n=16/74]，2008-2012 年 vs 2012-2019 年的 16.5%[n=30/182]）。
具有结构化多学科团队方法的产前遗传诊所可能成功获得产前遗传统一诊断。
