Ascertaining and classifying cases of congenital anomalies in the ALSPAC birth cohort

Taylor, Kenneth B.; Thomas, Richard; Mummé, Mark; Golding, Jean; Boyd, Andy; Northstone, Kate; Caputo, Massimo; Lawlor, Debbie A.

doi:10.12688/wellcomeopenres.16339.1

Cited by 10 publications

(7 citation statements)

References 28 publications

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“…In the ALSPAC cohort, cases were obtained from a range of data sources, including health record linkage and questionnaire data up until age 25 following European surveillance of congenital anomalies (EUROCAT) guidelines 31 . In BiB, cases were identified from either the Yorkshire and Humber congenital anomaly register database, which will tend to pick up most cases that diagnosed antenatally and in the early postnatal period of life, and through linkage to primary care (up until aged 5), which will have picked up any additional cases, in particular those that might have been less severe and not identified antenatally/in early life 32 .…”

Section: Methodsmentioning

confidence: 99%

The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomization study

Taylor

Wootton

Yang

et al. 2022

Preprint

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Background: Congenital heart diseases (CHDs) remain a significant cause of infant morbidity and mortality. Epidemiological studies have explored maternal risk factors for CHDs, but few have used genetic epidemiology methods to improve causal inference. Methods: Three birth cohorts, including 38,662 mother/offspring pairs (N = 319 CHD cases) were included. We used one-sample Mendelian randomization (MR) analyses to explore the effects of genetically predicted maternal body mass index (BMI), smoking and alcohol on offspring CHDs. We generated genetic risk scores (GRS) using summary data from large scale genome-wide association studies and validated the strength of the genetic instrument for exposure levels during pregnancy. Logistic regression was used to estimate the odds ratio (OR) of CHD per 1 standard deviation (SD) change in GRS. Results for the three cohorts were combined using random-effects meta-analyses. We performed several sensitivity analyses including multivariable MR to check the robustness of our findings. Results: The GRSs associated with the exposures during pregnancy in all three cohorts, with somewhat weaker associations for the alcohol GRS. There was no relationship between the maternal GRS for BMI and offspring CHDs (pooled OR (95% confidence interval) per 1SD higher GRS: 1.01 (0.90, 1.13)). Similarly, there was no effect of an increase in maternal GRS for lifetime smoking on offspring odds of CHDs (pooled OR: 0.97 (0.87, 1.08)). We observed weak evidence of an increased odds of offspring CHDs with increase in the maternal GRS for alcoholic drinks per week (pooled OR: 1.09 (0.98, 1.22)). Sensitivity analyses yielded similar results. Conclusions: We found no robust evidence of an effect for maternal BMI or smoking on offspring CHDs using MR. The modest effect of maternal alcohol intake on offspring CHDs needs to be replicated in larger study populations. Future larger studies that employ a range of causal methods including two-sample MR are warranted to further interrogate maternal gestational risk factors for offspring CHDs.

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Section: Methodsmentioning

confidence: 99%

The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomization study

Taylor

Wootton

Yang

et al. 2022

Preprint

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“…In the ABCD cohort, data on CHDs in liveborn children were obtained from three different sources: (i) the infant questionnaire, which was filled out by the mother at an average infant age of 12.9 weeks, (ii) the questionnaire filled out by the mother at an average infant age of 5.1 years, and (iii) clinical data of the Youth Health Care Registration. In the ALSPAC cohort, cases were obtained from a range of data sources, including health record linkage and questionnaire data up until age 25 following European Surveillance of Congenital Anomalies (EUROCAT) guidelines 26 . In BASELINE, at 2 months, mothers were asked of any medical problems and/or referrals.…”

Section: Methodsmentioning

confidence: 99%

The effect of maternal pre-/early-pregnancy BMI and pregnancy smoking and alcohol on congenital heart diseases: a parental negative control study

Taylor¹,

Elhakeem²,

Nader

et al. 2020

Preprint

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Background: Congenital heart diseases (CHDs) are the most common congenital anomaly. The causes of CHDs are largely unknown, but intrauterine mechanisms appear to be important. Higher prenatal body mass index (BMI), smoking and alcohol consumption are associated with increased risk of CHDs. Whether these are causal is unclear. Methods: Seven European birth cohorts including 232,390 offspring were included. We applied negative exposure paternal control analyses to explore the intrauterine effects of maternal BMI, smoking and alcohol consumption during pregnancy, on offspring CHDs and CHD severity. We used logistic regression and combined estimates using a fixed-effects meta-analysis and compared maternal-specific confounder-adjusted associations to similarly adjusted associations of paternal exposures. If there is a causal intrauterine effect of a maternal pregnancy exposure, we would expect to see a maternal-specific association, with no (or weaker) association with the paternal exposure. Results: There were 2,469 CHD cases (1.1%). The association of mean BMI with CHD was null and similar in mothers (adjusted OR per 1kg/m2: 1.00 (95%CI: 0.99, 1.02)) and fathers (OR: 1.01 (0.99, 1.03)). The analyses of BMI categories resulted in similar increased odds of CHD in overweight (mothers OR: 1.15 (1.01, 1.31) and fathers 1.10 (0.96, 1.27)) and obesity (mothers OR: 1.12 (0.93, 1.36) and fathers 1.16 (0.90, 1.50)). Maternal smoking was associated with increased odds of CHD (OR: 1.11 (0.97, 1.25)) but paternal smoking was not (OR: 0.96 (0.85, 1.07)). The difference increased when removing offspring with genetic/chromosomal defects (mothers OR: 1.15 (1.01, 1.32) and fathers 0.93 (0.83, 1.05)). The positive association with maternal pregnancy smoking appeared to be driven by non-severe CHD cases (OR: 1.22 (1.04, 1.44)). Associations with maternal (OR: 1.16 (0.52, 2.58)) and paternal (OR: 1.23 (0.74, 2.06)) moderate/heavy pregnancy alcohol consumption were similar. Conclusions: We have shown that maternal, but not paternal, pregnancy smoking is associated with an increase in odds of offspring CHDs, primarily non-severe CHDs, providing evidence of an intrauterine effect. We found no strong evidence of an intrauterine effect of higher maternal BMI or alcohol consumption on offspring CHDs. Our findings provide further evidence for why smoking cessation is important during pregnancy.

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“…Transferring and discharging was also done from within the STORK Maternity system. There is a link between STORK and the SWRHA Child Health database 7 : which was used to track early-years child development and routine healthcare (e.g. vaccinations, school nurse visits).…”

Section: Methodsmentioning

confidence: 99%

“…The view of the report is that the paper abstracted ALSPAC obstetric and paediatric records were generally more reliable and more complete than the early STORK data. The abstracted records are only available as a full electronic dataset for specific detailed variables such as longitudinal measures of maternal weight and blood pressure, diagnosis of pre-eclampsia; Other details of pregnancy have been abstracted from the medical records for 8,369 pregnancies 7 . The benefit of the STORK data is that it is readily available in an electronic format, although the accuracy of many of the variables is imperfect.…”

Section: Dataset Validationmentioning

confidence: 99%

The STORK dataset: Linked midwifery and delivery records of the mothers and index children in the Avon Longitudinal Study of Parents and Children (ALSPAC)

Mummé¹,

Boyd²,

Golding³

et al. 2020

Wellcome Open Res

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This data note describes the linked antenatal and delivery records of the mothers and index children of the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort study. These records were extracted from the computerised maternity record system ‘STORK’ used by the two largest NHS trusts in the study catchment area. The STORK database was designed to be populated by midwives and other health professionals during a woman’s pregnancy and shortly after the baby’s birth. These early computer records were initiated in the early 1990s, shortly before the start of enrolment to ALSPAC. At this time the use of electronic medical record systems such as ‘STORK’ was very new, the accuracy of the records has been questioned and little contemporary detailed documentation is available. Small sample spot checks on the accuracy of the information in ‘STORK’ suggests extensive missingness and differences against gold-standard fieldworker abstracted information in some variables; yet high levels of completeness and agreement with gold-standard data in others. Software code was created using STATA (StataCorp LLC) to transform the original CSV (comma-separated values) files into a cohesive and consistent format which was reviewed for data-completeness for its potential use in future research. The cleaned ‘STORK’ records provide health, social and maternity data from the very earliest period of the ALSPAC study in an easily accessible format, which is particularly useful when other sources of data are missing.

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Ascertaining and classifying cases of congenital anomalies in the ALSPAC birth cohort

Cited by 10 publications

References 28 publications

The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomization study

The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomization study

The effect of maternal pre-/early-pregnancy BMI and pregnancy smoking and alcohol on congenital heart diseases: a parental negative control study

The STORK dataset: Linked midwifery and delivery records of the mothers and index children in the Avon Longitudinal Study of Parents and Children (ALSPAC)

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