Article Text
PDF
Abstract
Objective 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.
Design Retrospective case series.
Setting A regional genetics centre in Yorkshire.
Patients 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.
Methods 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.
Results and conclusion 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.
- genetics
- syndrome
Data availability statement
Data are available upon reasonable request. Please contact the corresponding author if required.
Statistics from Altmetric.com
Footnotes
Contributors ZL was responsible for collecting and presenting the data.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.