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The Baby Hearts Study - a case-control methodology with data linkage to evaluate risk and protective factors for congenital heart disease.

ABSTRACT: Introduction:The Baby Hearts study aimed to investigate risk and protective factors for congenital heart disease (CHD), and to investigate the health behaviours of a representative sample of pregnant women in Northern Ireland. Objectives:We describe and evaluate the population-based case-control design enhanced with data linkage to administrative health data. Methods:Cases (mothers of babies with CHD, n=286) were recruited following diagnosis prenatally or postnatally. Controls (mothers of babies without CHD, n=966) were recruited at 18-22 weeks gestation, from all women attending each maternity unit during a designated month. Hybrid data collection methods were used, including a self-administered iPad/postal questionnaire, and linkage to maternity and prescription records. Results:Refusal rates were low (8%). iPad questionnaire completion at clinic or home visit had high acceptability whereas postal questionnaires were poorly returned leading to a further 9-10% loss of eligible cases/controls. In total, 61% of eligible cases and 68% of eligible controls were recruited, closely representative of the Northern Ireland population, with no evidence of selection bias. Of those recruited, 97% gave consent for linkage to medical records. Thirty-three percent of women had an unplanned pregnancy and 76% suspected they were pregnant by 5 weeks gestation, with no significant differences between cases and controls. There was considerable discordance between self-report, maternity and prescription records regarding medications obtained/taken in the first trimester, but no evidence of differences between cases and controls that would indicate substantial recall bias. Although there was high concordance between self-report and maternity records regarding folic acid supplementation, cases had significantly lower concordance than controls. Conclusions:Our results suggest hybrid data collection approaches are a useful way forward for aetiological studies to reduce responder burden and address and estimate recall bias, and that the Baby Hearts study protocol is suitable for replication in other populations, modified to the local context.

SUBMITTER: McCullough N

PROVIDER: S-EPMC7479919 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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The Baby Hearts Study - a case-control methodology with data linkage to evaluate risk and protective factors for congenital heart disease.

McCullough N N Dolk H H Loane M M Lagan B M BM Casey F F Craig B B

International journal of population data science 20190408 1

<h4>Introduction</h4>The Baby Hearts study aimed to investigate risk and protective factors for congenital heart disease (CHD), and to investigate the health behaviours of a representative sample of pregnant women in Northern Ireland.<h4>Objectives</h4>We describe and evaluate the population-based case-control design enhanced with data linkage to administrative health data.<h4>Methods</h4>Cases (mothers of babies with CHD, n=286) were recruited following diagnosis prenatally or postnatally. Cont ...[more]

PMID: 32935022

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Project description:UnlabelledIntroductionX-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1) gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature.Case presentationA 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized.ConclusionsWe report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due to MAMLD1 mutation. Early diagnosis of this association and determining its optimal treatment are vital in helping to avoid its fatal course.

Dataset Information

The Baby Hearts Study - a case-control methodology with data linkage to evaluate risk and protective factors for congenital heart disease.

Publications

The Baby Hearts Study - a case-control methodology with data linkage to evaluate risk and protective factors for congenital heart disease.

Similar Datasets

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