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Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester

Report of 2 Cases

Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile.

Address correspondence to Waldo Sepulveda, MD, Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile., E-mail fetalmed{at}yahoo.com

Objective. The purpose of this series is to describe the first-trimester sonographic findings leading to the diagnosis of monosomy 18p. Methods. The sonographic appearance of 2 cases of monosomy 18p, detected as part of first-trimester sonographic screening for aneuploidy at this institution, was reviewed. Results. Increased nuchal translucency thickness, alobar holoprosencephaly, and facial defects were detected in both cases. Chromosomal analysis by chorionic villus sampling revealed de novo del(18p) in 1 case and monosomy 18p as the result of an 18q isochromosome in the other. Conclusions. Increased nuchal translucency thickness in association with brain and face anomalies on a first-trimester scan allowed the early diagnosis of monosomy 18p. Fetuses with holoprosencephaly can be readily identified in the first trimester by examining a cross section of the fetal head looking for the "butterfly" sign. Prenatal karyotyping provides important information regarding the etiology and risk of recurrence in these cases.

Key Words: facial defects • first-trimester screening • holoprosencephaly • monosomy 18p • nuchal translucency • prenatal diagnosis

Abbreviations: CVS, chorionic villus sampling