A Cluster of Anencephaly Cases: The Potential Preventative Role of Folic Acid Fortification.
J Stokes, E Loughman, E Dunn
✦ AI-curated · Sources linked
Case in brief
Over two weeks, a peripheral maternity unit identified four fetuses with severely abnormal cranial views on ultrasound; three cases were described. Fetal medicine assessment at a tertiary referral centre confirmed anencephaly/acrania at 12–16 weeks’ gestation. Genetic testing was undertaken in two cases. Two couples chose termination under Section 11 of the Health Act 2018. The third pregnancy continued, ending in emergency caesarean delivery and neonatal death within hours. The report highlights the serious diagnosis and the difficult decisions faced by the parents.
What made this case unusual
The report describes a cluster of four cases identified at one peripheral maternity unit over a two-week period, although details are provided for only three.
Diagnostic / clinical pearl
Severely abnormal fetal cranial views on ultrasound warrant specialist fetal medicine assessment; in these cases, anencephaly/acrania was confirmed at 12–16 weeks’ gestation.
Why it matters
The authors use the cluster to highlight folic acid food fortification as a potential contribution to prevention of this largely preventable anomaly.