Research News

Identifying Beckwith-Wiedemann Syndrome In Utero: A Case Report

Although normally identified after birth, it is possible to diagnose Beckwith-Wiedemann syndrome in utero using prenatal imaging.  A case report from Nationwide Children’s Hospital published in the January 2011 issue of the journal Urology highlights how ultrasound and MRI can help identify this overgrowth syndrome. In this case, diagnosis resulted from kidney abnormalities shown on a routine prenatal ultrasound.

A 35-year-old pregnant mother was referred to Maternal Fetal Medicine after her routine 20-week prenatal ultrasound revealed bilaterally enlarged echogenic kidneys with mild pelviectasis. Follow up ultrasounds showed that the kidneys continued to enlarge.  To better characterize the fetus’ kidneys, a fetal MRI was obtained, which showed markedly enlarged kidneys bilaterally. Of note, a prominent tongue was also discovered.  

Given these findings, it was felt that the child most likely had Beckwith-Wiedemann syndrome and she was followed up with serial ultrasounds. The kidneys continued to enlarge and a 3-D ultrasound at 36 weeks gestation again showed the enlarged tongue. At birth DNA testing revealed uniparental disomy at chromosome 11p15, which is known to be associated with Beckwith-Wiedemann syndrome.

“Usually patients are not diagnosed with Beckwith-Wiedemann syndrome until the time of birth, when their characteristic physical examination findings warrant further investigation,” said Seth A. Alpert, MD, faculty member in the Section of Pediatric Urology at Nationwide Children’s Hospital and one of the study authors. “Prenatal diagnosis is important to properly counsel the parents and to initiate malignancy screening in a timely manner.  It also allows the delivery team to prepare in advance for the management of potential perinatal life-threatening consequences that may accompany this syndrome.”  This condition carries important implications for the pediatric urologist as it is associated with an increased risk for developing certain embryonal tumors.

The enlarged tongue is the most common physical examination finding in children with Beckwith-Wiedemann syndrome; however, previous studies have identified macroglossia in only 45 percent of the cases using ultrasound.  Recently, fetal MRI has been used to complement prenatal ultrasonography, especially in cases of complex urinary tract abnormalities. “Ultrasound may be the only modality needed in most cases to make the prenatal diagnosis of Beckwith-Wiedemann, but in complex cases, fetal MRI may serve as a useful adjunct,” said Dr. Alpert.

Storm DW, Hirselj DA, Rink B, O'Shaughnessy R, Alpert SA. The prenatal diagnosis of Beckwith-Wiedemann syndrome using ultrasound and magnetic resonance imaging. Urology. 2011 Jan;77(1):208-10.

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