A 26-year-old gravida 1, para 0 pregnant woman was referred to the maternal fetal care center (MFCC) at 19 weeks’ gestation because of concern for bladder exstrophy. Fetal ultrasonography followed by fetal magnetic resonance imaging (MRI) performed at 18 4/7 weeks’ gestation (Fig 1) showed a large cyst of the inferior anterior abdominal wall, an absent bladder, bilateral clubfoot, suspicion for pelvic left kidney, a small right kidney, and a 2-vessel umbilical cord. This was a naturally conceived and uneventful pregnancy. Amniocentesis before referral showed a normal female karyotype, 46,XX, elevated α-fetoprotein, and normal acetylcholinesterase level. The microarray was normal. The maternal medical history was noncontributory. The family history was notable for a maternal grandmother with cleft palate. The patient was a nonsmoker without a history of past or current drug use, and her only medication was prenatal vitamins. Her prenatal laboratory findings were remarkable for group B...
OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects
Drs Bernardini, Dickie, and Estroff have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
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Laura B. Bernardini, Belinda H. Dickie, Judy A. Estroff; OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects. Neoreviews October 2021; 22 (10): e709–e718. https://doi.org/10.1542/neo.22-10-e709
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