Prenatal Diagnosis of Harlequin Ichthyosis Using 3- and 4-Dimensional Sonography

Abstract

Received October 5, 2009, from the Department of Obstetrics and Gynecology, Medical University of Silesia, Katowice, Poland (M.J.K.); and Department of Obstetrics and Gynecology, University Hospitals, Catholic University of Leuven, Leuven, Belgium (D.T.). Revision requested October 6, 2009. Revised manuscript accepted for publication October 12, 2009. Address correspondence to Marek J. Kudla, MD, Department of Obstetrics and Gynecology, Medical University of Silesia, Medykow 14, 40-780 Katowice, Poland. E mail: marekkudla@hotmail.com Abbreviations 4D, 4-dimensional; HI, harlequin ichthyosis; NLS, Neu-Laxova syndrome; 3D, 3-dimensional; 2D, 2dimensional he patient, aged 26 years, was admitted for a second-opinion sonographic examination in the 26th week of pregnancy. Her medical history was gravida 3, para 2 with a history of 1 early spontaneous abortion in the sixth week and 1 birth of a healthy infant in the 40th week. All pregnancies were with the same nonconsanguineous partner. Her first detailed examination, performed in the 13th week, displayed no fetal anatomic malformation, with a nuchal translucency thickness (1 mm) within the normal range. A second-opinion evaluation was requested because of abnormalities observed during previous sonographic examinations in the 17th and 23rd weeks. Apart from structural findings, discordance of around 2 weeks between gestational age and fetal growth was noted. The amount of amniotic fluid was increased. Amniocentesis, offered and performed in the 18th week, yielded normal findings and a 46,XY karyotype. Our second-opinion examination confirmed a discrepancy of around 4 weeks between fetal growth and the dates. Pathologic features observed during this 2-dimensional (2D), 3-dimensional (3D), and 4-dimensional (4D) examination included polyhydramnios, fixed flexion of the extremities, short digits, a flat nose, bilateral clubfeet, clenched hands, a short neck, a flat face profile, thick lips, eclabion, open eyes, ectropion, cataracts, a constantly open mouth, micrognathia, hypoplasia of the ears, choroid plexus cysts, and a short umbilical cord (Figures 1–4).