Diagnosis of holoprosencephaly in the first trimester

Authors

  • Shweta Paliwal Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospitals, New Delhi, India
  • Chanchal Singh Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospitals, New Delhi, India
  • Nikhil Gholkar Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospitals, New Delhi, India
  • Anita Kaul Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospitals, New Delhi, India

Keywords:

Holoprosencephaly, First trimester, Early diagnosis

Abstract

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.

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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.

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Published

2016-12-13

How to Cite

Paliwal, S., Singh, C., Gholkar, N., & Kaul, A. (2016). Diagnosis of holoprosencephaly in the first trimester. International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2(4), 735–736. Retrieved from https://www.ijrcog.org/index.php/ijrcog/article/view/290