Prenat Diagn

Familial ileal perforation: prenatal diagnosis and postnatal follow-up.

Chitayat D. Grisaru-Granovsky S. Ryan G. Toi A. Filler R. Seaward GR. Siegel-Bartelt J. Cytrynbaum C.
Prenatal Diagnosis Program, Toronto Hospital-General Division, Ontario, Canada.
We report sibs (a brother and a sister) who presented prenatally with ultrasound findings of meconium peritonitis and postnatally were found to have perforation of the terminal ileum. The sister presented with fetal ultrasound findings of severe ascites and peritoneal calcifications. She had no prenatal intervention and was born at 38 weeks' gestation. Laparatomy revealed perforation of the terminal ileum with meconium peritonitis. Her post-surgical course was uncomplicated and at 30 months of age her growth and development are normal. Her brother presented prenatally with signs of meconium peritonitis including severe ascites and peritoneal calcifications. Prenatal aspiration of the ascitic fluid was performed and unlike his sister he was born prematurely, was operated on at 8 days, and developed bronchopulmonary dysplasia. He is currently 1 year old and has normal growth and development. The aetiology of the ileal perforation is not known. There were no findings suggesting connective tissue disorder and the aetiology of the intestinal perforation is not known. The occurrence of the same rare abnormality in sibs of different sexes points towards an autosomal recessive disorder.

Fetal intrahepatic hyperechogenic foci: prenatal ultrasound diagnosis and outcome.

Year 1998
Koopman E. Wladimiroff JW.
Department of Obstetrics and Gynaecology, University Hospital Rotterdam-Dijkzigt, The Netherlands.
Fetal intrahepatic hyperechogenic foci were found in seven out of 7260 patients (1:1037) referred to our prenatal centre for a fetal anomaly scan because of an increased risk or suspected presence of fetal structural anomalies. The gestational age varied between 20 and 32 weeks (mean 24 weeks). Fetal karyotyping in three out of seven fetuses resulted in one case of trisomy 18. Additional anomalies were diagnosed in both this case and a case of combined hyperechogenic liver foci, encephalocoele, and unilateral renal agenesis. TORCH and Parvo virus screening was only done in one patient and the results were negative. Outcome was normal in five fetuses with isolated intrahepatic lesions. In the presence of fetal intrahepatic hyperechogenic foci, a detailed scan of the entire fetus should be performed. Screening for infections should continue in order to clarify their role in the development of these intrahepatic lesions. Fetal karyotyping is recommended when additional structural anomalies are present. The outcome of fetuses with isolated hyperechogenic liver foci is generally good.