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Early prenatal diagnosis of cyclopia associated with holoprosencephaly

Early prenatal diagnosis of cyclopia associated with holoprosencephaly 201th Toth, MD, PhD,* Karoly Csecsei, MD,*Cyorgy Szeifert, MD,t Olga Torok, MD,* and 201th Papp, MD,PhD, DSc* With the widespread use of ultrasound, the number of prenatally detected congenital malformations has substantially increased. Ultrasound has become a n indispensable method in the field of prenatal diagnosis, helping to establish the actual condition of a given pregnancy. The objective of such examinations is to detect developmental anomalies as early as possible, before the 20th gestational week if possible, and to terminate pregnancies complicated by severe deformities. In the present study we describe a case of cerebral congenital malformation (cyclopia, holoprosencephaly, and exencephaly) diagnosed prenatally before the 16th week of pregnancy. CASE REPORT maternal serum AFP concentration was 14 ng/ml (not elevated). Transabdominal amniocentesis was performed. Cytologic examination of uncultured amniotic fluid cells suggested a severe open lesion. Cholinesterase activity was 44.69 Ulliter, and the amniotic fluid AFP concentration was 145,000 ng/ml, both of which were well above normal. Biochemical and cytologic examinations confirmed the possibility of severe malformation, and with parental consent the pregnancy, following J.G., 22, a white C-type diabetic, was referred to our department in the 1l t h week of her first pregnancy for monocomponent insulin http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Ultrasound Wiley

Early prenatal diagnosis of cyclopia associated with holoprosencephaly

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References (13)

Publisher
Wiley
Copyright
Copyright © 1986 Wiley Periodicals, Inc., A Wiley Company
ISSN
0091-2751
eISSN
1097-0096
DOI
10.1002/jcu.1870140710
Publisher site
See Article on Publisher Site

Abstract

201th Toth, MD, PhD,* Karoly Csecsei, MD,*Cyorgy Szeifert, MD,t Olga Torok, MD,* and 201th Papp, MD,PhD, DSc* With the widespread use of ultrasound, the number of prenatally detected congenital malformations has substantially increased. Ultrasound has become a n indispensable method in the field of prenatal diagnosis, helping to establish the actual condition of a given pregnancy. The objective of such examinations is to detect developmental anomalies as early as possible, before the 20th gestational week if possible, and to terminate pregnancies complicated by severe deformities. In the present study we describe a case of cerebral congenital malformation (cyclopia, holoprosencephaly, and exencephaly) diagnosed prenatally before the 16th week of pregnancy. CASE REPORT maternal serum AFP concentration was 14 ng/ml (not elevated). Transabdominal amniocentesis was performed. Cytologic examination of uncultured amniotic fluid cells suggested a severe open lesion. Cholinesterase activity was 44.69 Ulliter, and the amniotic fluid AFP concentration was 145,000 ng/ml, both of which were well above normal. Biochemical and cytologic examinations confirmed the possibility of severe malformation, and with parental consent the pregnancy, following J.G., 22, a white C-type diabetic, was referred to our department in the 1l t h week of her first pregnancy for monocomponent insulin

Journal

Journal of Clinical Ultrasound – Wiley

Published: Sep 1, 1986

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