Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

Meike Bangma; Simone Lunshof; Diane Van Opstal; Robert J. Galjaard; Dimitri N.M. Papatsonis

doi:10.1055/s-0031-1280850

American Journal of Perinatology Reports, Table of Contents

AJP Rep 2011; 01(02): 073-076
DOI: 10.1055/s-0031-1280850

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

Authors

Meike Bangma

¹Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda
Simone Lunshof

¹Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda
Diane Van Opstal

²Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Robert J. Galjaard

²Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Dimitri N.M. Papatsonis

¹Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda

Abstract

We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. Karyotyping of amniotic fluid cells revealed an isochromosome 18q, resulting in a trisomy 18q and monosomy 18p. A stillborn female of 390 g with several congenital anomalies was born. Postmortem examination demonstrated several anomalies including the HPE, cyclopia, double fused eye, absence of the nose, and the presence of a proboscis. In the literature only a few cases have been published.

Keywords

Alobar holoprosencephaly - cyclopia - proboscis - prenatal diagnosis - isochromosome 18q - sonography

Full Text

References

References
1 Pal S, Siti MI, Ankathil R, Zilfalil BA. Two cases of isochromosome 18q syndrome. Singapore Med J 2007; 48: e146-e150
2 Portnoï MF, Gruchy N, Marlin S , et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol 2007; 16: 247-252
3 Lim AS, Lim TH, Kee SK , et al. Holoprosencephaly: an antenatally-diagnosed case series and subject review. Ann Acad Med Singapore 2008; 37: 594-597
4 Wurster-Hill DH, Marin-Padilla JM, Moeschler JB, Park JP, McDermet M. Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report. Clin Genet 1991; 39: 142-148
5 Spinner NB, Eunpu DL, Austria JR, Mamunes P. Holoprosencephaly in a newborn girl with 46,XX,i(18q). Am J Med Genet 1991; 39: 11-12
6 van Essen AJ, Schoots CJ, van Lingen RA, Mourits MJ, Tuerlings JH, Leegte B. Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries. Am J Med Genet 1993; 47: 85-88
7 Graf MD, Gill P, Krew M, Schwartz S. Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screening. Prenat Diagn 2002; 22: 645-648
8 de Pater JM, Scheres JM, Brons J. Abnormal chromosome 18 in prenatal diagnosis with holoprosencephaly. Prenat Diagn 1997; 17: 887-888
9 Levy-Mozziconacci A, Piquet C, Scheiner C , et al. i(18q) in amniotic and fetal cells with a normal karyotype in direct chorionic villus sampling: cytogenetics and pathology. Prenat Diagn 1996; 16: 1156-1159
10 Froster-Iskenius U, Coerdt W, Rehder H, Schwinger E. Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology. Clin Genet 1984; 26: 549-554
11 Sahoo T, Naeem R, Pham K , et al. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. Am J Med Genet A 2005; 133A: 93-98