Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus

Taiwanese Journal of Obstetrics & Gynecology
Chin-Yi LinWayseen Wang


To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis. Polyhydramnios, IUGR and ventriculomegaly are impor...Continue Reading


Sep 1, 1988·American Journal of Medical Genetics·F GreenbergD H Ledbetter
Nov 1, 1994·Journal of Clinical Ultrasound : JCU·J P McGahanE O Gerscovich
Jan 1, 1993·Fetal Diagnosis and Therapy·K OkamuraA Yajima
Mar 31, 1997·American Journal of Medical Genetics·D ChitayatI Teshima
Nov 20, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P GrecoL Selvaggi
Dec 9, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K W FongD Chitayat
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Mar 22, 2006·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Sandeep GhaiSusan Blaser
Mar 29, 2007·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
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