Abstract

Overgrowth Syndromes (OS) – Beckwith-Wiedeman (BW), Simpson-Golabi-Behmel, Perlman, Sotos, Weaver (WS), Proteus, KlippelTrenaunay and some other heterogeneous conditions – are characterized by an excessive prenatal and postnatal growth. As some of them have a poor prognosis, a correct prenatal diagnosis is essential. So far, just a few of prenatal diagnosis of OS have been reported, mostly regarding the BW one. We report the first prenatal diagnosis of Weaver syndrome, in a low risk pregnancy, detected as early as the 22 weeks’ gestation, in a G2 P1 28-year-old Caucasian woman. Parents were non related. The patient was referred to our tertiary centre because of a presumptive diagnosis of BW syndrome, that was excluded because there was neither omphalocele nor macroglossia. 2D US scan was performed with an Hitachi Logos machine (Esaote), and the images were further elaborated in a 3D freehand mode. The 2D scan showed a single living fetus with all the biometric parameters above the 99◦ centile for gestational age. The fetus showed as well: broadening of long bones epiphyses; external male genitalia with micropenis; enlarged hyperechogenic kidneys with severe hydronephrosis; camptodactyly with clinodactyly of fifth digits; enlarged liver; long, everted and broad upper lip.; large ears; enlarged plica nucalis > 9 mm; polyhydramnios. Amniocentesis showed a normal male, 46XY, karyotype. 3D surface rendering images better defined the 2D findings, especially as for the fetal profile, hands and kidneys was concerning, allowing us to postulate a prenatal diagnosis of Weaver syndrome. After extensive genetic counselling, parents opted for pregnancy termination, and a stillborn fetus weighing 788 g was delivered. Dismorphological, X-Ray and necroscopic examination confirmed the prenatal diagnosis of WS. We believe that 3D scan is helpful in making an accurate prenatal diagnosis in case of OS, permitting parents to decide in order to pregnancy termination.

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