Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, West Yorkshire, UK
Neonatal Unit, Leeds Teaching Hospitals NHS Trust, Leeds, West Yorkshire, UK.
Arch Dis Child. 2021 Jul;106(7):653-655. doi: 10.1136/archdischild-2020-319572. Epub 2020 Nov 23.
To assess the diagnostic yield of genetic conditions in patients referred to a regional genetics service to consider a diagnosis of foetal alcohol spectrum disorder.
Retrospective case series.
A regional genetics centre in Yorkshire.
All referrals to the Yorkshire Regional Genetics Service coded with mentions of maternal alcoholism or foetal alcohol were considered for inclusion. Exclusion criteria were follow-up patients, patients with missing case notes and patients failing to attend their appointment.
Medical records were reviewed and the following information was extracted: referring specialty, reason for referral, gender, age at assessment by clinical genetics, accompanying individual, history of alcohol exposure in pregnancy, clinical examination details, neurodevelopmental deficits, genetic testing prior to referral, genetic testing organised by the genetics department and diagnosis made by clinical genetics.
110 patients were included. 130 tests were carried out, including 86 array comparative genomic hybridisation tests. The overall diagnostic rate for a contributing genetic disorder was 3.6%, all being chromosomal disorders and chromosome copy number variants.
评估遗传疾病在被转诊至区域遗传学服务以考虑胎儿酒精谱系障碍诊断患者中的诊断率。
回顾性病例系列研究。
约克郡的一个区域遗传学中心。
所有被转诊至约克郡区域遗传学服务的患者，编码中有提到母亲酗酒或胎儿酒精，都被认为符合纳入标准。排除标准为随访患者、缺少病历记录的患者以及未能按时就诊的患者。
回顾病历并提取以下信息：转诊科室、转诊原因、性别、临床遗传学评估时的年龄、陪同人员、妊娠期间的酒精暴露史、临床检查详情、神经发育缺陷、转诊前的基因检测、遗传学部门组织的基因检测以及临床遗传学做出的诊断。
共纳入 110 例患者。共进行了 130 项检测，包括 86 项比较基因组杂交芯片检测。导致遗传疾病的总体诊断率为 3.6%，均为染色体疾病和染色体拷贝数变异。
