Abstract
BackgroundPerinatal mortality in foetuses/children with congenital anomalies remains high. Prenatal diagnosis, essential for risk assessment and organisation of perinatal/postnatal care, offers parents the opportunity to consider the termination of pregnancy. In times of quick changes in prenatal screening programmes, it is relevant to evaluate the effect of prenatal screening on perinatal mortality rates.ObjectivesThe objective of this study was to study trends in early foetal and perinatal mortality associated with congenital anomalies before/after the introduction of the Dutch prenatal screening programme.MethodsThis population‐based cohort study included 8535 foetuses/neonates with congenital anomalies born in the Northern Netherlands between 2001 and 2017. Total deaths were defined as sum of early foetal (before 24 weeks’ gestation) and perinatal deaths (from 24 weeks’ gestation till day 7 post‐partum). Foetal deaths were categorised into spontaneous or elective termination of pregnancy for foetal anomalies (TOPFA). Trends in total mortality as well as early foetal and perinatal mortality were studied. Joinpoint regression was used to calculate the average annual percentage chance (AAPC) and identify linear trends in mortality within subperiods.ResultsTotal and perinatal mortality were 17% and 4%. Total mortality was higher in abnormal karyotype and central nervous system anomalies. We observed an increase in total mortality over time: 11.9% in 2001 versus 21.9% in 2017 (AAPC 2.6, 95% confidence interval [CI] 1.5, 3.7), caused by an increase in early foetal mortality from 5.5% to 19.2% (AAPC 8.7, 95% CI 4.7, 12.9) and a decrease in perinatal mortality from 6.4% to 2.7% (AAPC −5.6, 95% CI −10.0, −1.0). The increase in early foetal mortality reflects an increase in TOPFA from 3.6% to 16.9% (AAPC 8.3, 95% CI 4.2, 12.7), mostly occurring at 13–14 and 20–23 weeks’ gestation.ConclusionsThe introduction of the prenatal screening programme led to a decrease in perinatal mortality among foetuses and neonates with congenital anomalies and a marked increase in early foetal mortality before 24 weeks’ gestation due to higher rates of TOPFA.
Highlights
Perinatal mortality in foetuses/children with congenital anomalies remains high
While most studies have focused on prenatal detection rates of congenital anomalies, data on trends in mortality rates following prenatal screening introduction are less frequently reported in the literature
We examined trends in mortality among foetuses with congenital anomalies between 2001 and 2017 for total mortality, perinatal mortality and early foetal mortality (TOPFA/spontaneous)
Summary
Perinatal mortality in foetuses/children with congenital anomalies remains high. Prenatal diagnosis, essential for risk assessment and organisation of perinatal/postnatal care, offers parents the opportunity to consider the termination of pregnancy. In the Northern Netherlands, the uptake of the 20-week scan (82%) has consistently been higher than the CT (32%) or NIPT (29%).[6] The implementation of and subsequent changes to the national prenatal screening programme have led to an increase in prenatal detection of several kinds of congenital anomalies, including neural tube defects, heart defects and urinary tract anomalies.7-10 Earlier diagnosis offers the opportunity of timely and appropriate counselling to parents on the prognosis of their child and the various therapeutic options available This allows parents more time to make an informed decision on the management or continuation of the pregnancy and healthcare professionals to properly organise postnatal care. While most studies have focused on prenatal detection rates of congenital anomalies, data on trends in mortality rates following prenatal screening introduction are less frequently reported in the literature
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