Archives of disease in childhood · 2020
Genetic testing in patients with possible foetal alcohol spectrum disorder.
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Lam Zena, Johnson Kathryn, Jewell Rosalyn
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAlcohol DrinkingAlcoholismChildChild, PreschoolChromosome DisordersComparative Genomic HybridizationDNA Copy Number VariationsFemaleFetal Alcohol Spectrum DisordersGenetic Diseases, InbornGenetic TestingHumansInfantMaleMaternal BehaviorNeurodevelopmental DisordersPregnancyReferral and ConsultationRetrospective StudiesYoung Adult