Trisomy 13
Abstract Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. It results from an extra chromosome 13 secondary to nondisjunction or translocation. In the United States,…
Abstract Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. It results from an extra chromosome 13 secondary to nondisjunction or translocation. In the United States,…
Abstract VACTERL ( v ertebral, a nal, c ardiac, t racheal, e sophageal, r enal, and l imb anomalies) association is a nonrandom association of congenital malformations. Associated findings of…
Abstract Aneuploidy is an abnormal copy number of one or more chromosomes and arises from aberrations in cell division. The most common anueploid conditions that can result in live birth…
Abstract Noonan syndrome is a disorder characterized by specific facial dysmorphisms, cardiovascular defects, short stature, and variable developmental delay. Noonan syndrome should be suspected prenatally in any fetus with cystic…
Abstract Poland sequence refers to a congenital unilateral absence of the sternal costal portion of the pectoralis major muscle and ipsilateral upper limb anomalies. The incidence of Poland sequence is…
Abstract Roberts syndrome is a rare genetic disorder characterized by fetal growth restriction, limb reductions, and craniofacial abnormalities. Upper extremities are more severely affected than lower extremities. It is caused…
Abstract Prune-belly syndrome is characterized by urologic abnormalities, flaccidity, or dysplasia in abdominal wall musculature, and cryptorchidism (in males). Because of the poorly developed abdominal wall muscles, the infant’s abdomen…
Abstract Pierre Robin sequence is characterized by retro/micrognathia, glossoptosis, and cleft palate (U-shaped); however, cleft palate is absent in up to one-half of all cases. Polyhydramnios may also be observed…
Abstract Pentalogy of Cantrell is a rare syndrome consisting of a spectrum of five structural ventral midline defects, with the combination of an omphalocele and ectopia cordis being the hallmark…
Abstract The current field of open fetal surgery is the result of superior diagnostic imaging, comprehensive multidisciplinary teamwork, and ongoing research endeavors. Prenatal indications for fetal surgery continue to expand,…