Abstract
BackgroundRecurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking. We estimated the absolute and relative risks of recurrent congenital anomaly in the second pregnancy for women with a history of a congenital anomaly in the first pregnancy, for all major anomaly groups and subtypes.MethodsPopulation-based register data on 18,605 singleton pregnancies affected by major congenital anomaly occurring in 872,493 singleton stillbirths, live births and terminations of pregnancy for fetal anomaly were obtained from the Northern Congenital Abnormality Survey, North of England, UK, for 1985–2010. Absolute risks (ARs) and relative risks (RRs) for recurrent congenital anomaly (overall, from a similar group, from a dissimilar group) in the second pregnancy were estimated by history of congenital anomaly (overall, by group, by subtype) in the first pregnancy.ResultsThe estimated prevalences of congenital anomaly in first and second pregnancies were 275 (95% CI 270–281) and 163 (95% CI 159–168) per 10,000 respectively. For women whose first pregnancy was affected by congenital anomaly, the AR of recurrent congenital anomaly in the second pregnancy was 408 (95% CI 365–456) per 10,000, 2.5 (95% CI 2.3–2.8, P < 0.0001) times higher than for those with unaffected first pregnancies. For similar anomalies, the recurrence risk was considerably elevated (RR = 23.8, 95% CI 19.6–27.9, P < 0.0001), while for dissimilar anomalies the increase was more modest (RR = 1.4, 95% CI 1.2–1.6, P = 0.001), although the ARs for both were 2%.ConclusionsAbsolute recurrence risks varied between 1 in 20 and 1 in 30 for most major anomaly groups. At pre-conception and antenatal counselling, women whose first pregnancy was affected by a congenital anomaly and who are planning a further pregnancy may find it reassuring that, despite high relative risks, the absolute recurrence risk is relatively low.
Highlights
Recurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking
A total of 872,493 singleton stillbirths, live births and termination of pregnancy for fetal anomaly (TOPFA) occurred during the 26 years, including 18,605 affected by major congenital anomaly, a prevalence of 213 per 10,000 births and TOPFAs
An estimated 9999 cases occurred in a first pregnancy from a predicted 362,952 first births and TOPFAs, a prevalence of 275 per
Summary
Recurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking. Families with a familial condition or who have previously lost a child or pregnancy to a congenital anomaly are often concerned about the risk of recurrence in future pregnancies [11]. Genetic counselling provides guidance and support for those families who are affected by conditions with known inheritance patterns [12, 13], but since the aetiology of most congenital anomalies is multifactorial or unknown [14], there is a lack of information concerning the recurrence risks for most anomaly groups and subtypes. Modest sample sizes, the use of outdated and unclear classification schemes (e.g. including a high proportion of minor anomalies) and a lack of detail for specific congenital anomaly subtypes limit their value for current preconception and prenatal counselling
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