Trisomy 13 (Patau Syndrome)
General Features [more information]
Karyotype View
Crown-rump length normal.
Second trimester IUGR.
Congenital Heart Defects:
* Fetal Heart Rate. * ASD, VSD. * Hypoplastic left ventricle. * Echogenic chordae tendineae. * Tetralogy of Fallot.
Central Nervous System: * Holoprosencephaly. * Agenesis of the Corpus Callosum * Enlarged Cisterna Magna. * Microcephaly. * Meningocele / encephalocele.
Craniofacial Malformations: * Micrognathia, Hypoplastic nose. * Anophthalmia / Microphthalmia. * Cleft lip and/or palate. * Hypotelorism (rarely cyclopia). * Small ears (low set).
Genitourinary Tract Malformations: * Enlarged echogenic kidneys. * Renal cortical cysts. * Renal dysplasia. * Hyperlobulation. * Multicystic renal dysplasia.
Neck: * Nuchal translucency increased. * Fetal hydrops.
Limb Defects: * Postaxial polydactyly. * Camtodactyly. * Overlapping digits. * Clubfeet.
Abdomen: * Omphalocele. * Echogenic bowel.
Umbilical Cord: * Single umbilical artery. * Umbilical cord pseudocyst.
Polyhydramnios (third trimester).
