Diagnosis of holoprosencephaly in the first trimester
Keywords:
Holoprosencephaly, First trimester, Early diagnosisAbstract
We present a case of alobar holoprosencephaly diagnosed antenatally at 12 weeks gestation. Early diagnosis of such lethal malformation is important so that the parents have an option for termination at an early gestational age minimizing maternal morbidity and social impact on the family.
Metrics
References
Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995–2004. Prenat Diagn 2007;27:340-347.
Cohen MM Jr. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 2006;76:658–673.
De Wals P, Bloch D, Calabro A, Calzolari E, Calabro A, et al. Association between holprosencephaly and exposure to topical retinoids. Results of EUROCRAT survey. Paediatr Perinat Epidemiol 1991;5:445-7.
Corona –Rivera JR et al. Am J Med Genet A 2010, Jul;152(A)7:1741-6.