2011National journal of integrated research in medicineRequires access

How Can We Prevent Birth of Fetus With Holoprosencephaly? Anatomical and Embryological Aspects of Holoprosencephaly.

Rajesh B. Astik, Urvi H. Dave

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Abstract

Objectives: Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles of the brain resulting from impaired midline cleavage of the embryonic forebrain. The present study aimed to identify cases of holoprosencephaly over a period of three years, to assess the incidence of this malformation, and if possible, prevention of birth of such malformed fetus or infant through genetic counseling. Methods: Diverse features of holoprosencephalic fetus or infant and incidence of holoprosencephaly were studied at GSL Medical College, Rajahmundry; Andhra Pradesh. Results: Incidence found for holoprosencephaly is 2.58 per 10,000 births. Out of total four cases of holoprosencephaly two cases were of alobar and there was each case of semilobar and lobar holoprosencephaly. In two cases there was association between holoprosencephaly and gestational diabetes and in another two cases; there was a familial distribution of holoprosencephaly. Conclusion: Prenatal diagnosis of this rare disorder and genetic counseling has immense importance to prevent holoprosencephaly. (Astik R et al NJIRM 2011; 2(4) : 56-59) Key-words: Cyclopia, gestational diabetes, holoprosencephaly, prosencephalon

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Objectives: Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles of the brain resulting from impaired midline cleavage of the embryonic forebrain. The present study aimed to identify cases of holoprosencephaly over a period of three years, to assess the incidence of this malformation, and if possible, prevention of birth of such malformed fetus or infant through genetic counseling. Methods: Diverse features of holoprosencephalic fetus or infant and incidence of holoprosencephaly were studied at GSL Medical College, Rajahmundry; Andhra Pradesh. Results: Incidence found for holoprosencephaly is 2.58 per 10,000 births. Out of total four cases of holoprosencephaly two cases were of alobar and there was each case of semilobar and lobar holoprosencephaly. In two cases there was association between holoprosencephaly and gestational diabetes and in another two cases; there was a familial distribution of holoprosencephaly. Conclusion: Prenatal diagnosis of this rare disorder and genetic counseling has immense importance to prevent holoprosencephaly. (Astik R et al NJIRM 2011; 2(4) : 56-59) Key-words: Cyclopia, gestational diabetes, holoprosencephaly, prosencephalon

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Available abstract

Objectives: Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles of the brain resulting from impaired midline cleavage of the embryonic forebrain. The present study aimed to identify cases of holoprosencephaly over a period of three years, to assess the incidence of this malformation, and if possible, prevention of birth of such malformed fetus or infant through genetic counseling. Methods: Diverse features of holoprosencephalic fetus or infant and incidence of holoprosencephaly were studied at GSL Medical College, Rajahmundry; Andhra Pradesh. Results: Incidence found for holoprosencephaly is 2.58 per 10,000 births. Out of total four cases of holoprosencephaly two cases were of alobar and there was each case of semilobar and lobar holoprosencephaly. In two cases there was association between holoprosencephaly and gestational diabetes and in another two cases; there was a familial distribution of holoprosencephaly. Conclusion: Prenatal diagnosis of this rare disorder and genetic counseling has immense importance to prevent holoprosencephaly. (Astik R et al NJIRM 2011; 2(4) : 56-59) Key-words: Cyclopia, gestational diabetes, holoprosencephaly, prosencephalon

Key concepts: Holoprosencephaly, Cyclopia, Medicine, Fetus, Obstetrics, Forebrain, Incidence (geometry), Pediatrics

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