One hundred consecutive cases of confirmed anterior abdominal wall defect, identified prenatally in the Oxford Prenatal Diagnosis Unit over 11 years, were studied. Fifty nine per cent of cases were suspected omphaloceles and 41% suspected gastroschisis. Fifty four per cent of omphaloceles were accompanied by other defects compared with 5% of those with gastroschisis. Overall, 29% of fetuses with omphalocele had an abnormal karyotype, and of those with another abnormality identified on scan (excluding four cases with no karyotype performed), 54% had an abnormal karyotype. Of the 27 cases with suspected isolated omphalocele, 14 were live born, all of whom have survived. If the 11 whose parents opted for termination of pregnancy are excluded, survival to birth was 88%. Six of the suspected isolated omphaloceles have Beckwith Wiedemann syndrome (BWS). Eight (57%) of the live born babies with omphaloceles had major problems up to the age of 2, but only one (7%) has long term major problems. This child has BWS and is deaf.Of the 39 cases of suspected isolated gastroschisis, 33 (85%) pregnancies resulted in live birth and one in neonatal death after surgery. Survival rate (excluding terminated pregnancies) was 97%. Gastroschisis was associated with a younger maternal age than omphalocele (p<0.001) and lower birthweight centile (p<0.01).Fifteen per cent of the gastroschisis babies had major problems up to the age of 2 years and 12% long term developmental problems. Ninety three per cent of the omphalocele babies and 88% of those who had gastroschisis have no long term problems. Over the study period there have been major changes in scanning equipment and expertise. Since 1991 no woman with a suspected isolated lesion has opted for termination of pregnancy. (Arch Dis Child Fetal Neonatal Ed 1998;78:F209-F213)

We report two families in which neonatal haemochromatosis was observed in half sibs. In the first family, two successive girls were born of different fathers. In the second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing two affected half sisters, revive the debate over the inheritance of neonatal haemochromatosis. Incomplete penetrance or gonadal mosaicism for a dominant disorder, a maternal "environmental factor", or mitochondrial defect may be more suitable explanations than autosomal recessive inheritance in this condition. Alternative modes of fertilisation, such as donor insemination or in vitro fertilisation with donor eggs, should be considered with caution. (JtMed Genet 1996;33:444-449) Key words: neonatal haemochromatosis; half sibs; maternal inheritance.Neonatal haemochromatosis (NH) is a polyvisceral iron storage disorder of prenatal onset. It is characterised by a rapidly progressive hepatic insufficiency with prenatal or perinatal onset and a specific distribution of iron overload similar to that seen in adult chromosome 6 326,mol/l under treatment. However, serum iron increased to 228 itmol/l and liver insufficiency persisted. She had disseminated intravascular coagulation with fibrin degradation products at 160 gg/ml (normal <20).In addition to standard treatment for liver failure, she was given continuous infusion factors II, V, VII, IX, and fibrinogen at a dosage of 50 IU/kg/day without improvement. Death resulted from massive intracranial haemorrhage and multivisceral failure on day 5.Postmortem liver biopsy showed micronodular cirrhosis, mild ductular proliferation and portal inflammation, extramedullary haematopoiesis, and multinucleated hepatocytes. Iron overload was obvious and was concentrated in hepatocytes, without iron accumulation in Kupffer cells. Iron overload was found at necropsy in the pancreas, stomach, adrenal glands, kidneys, thyroid, heart, and salivary glands. AETIOLOGICAL INVESTIGATIONSAs recommended elsewhere,8 appropriate blood and urine tests were performed before death in both children. Combined with postmortem pathological examination, tyrosinaemia, galactosaemia, hereditary fructose intolerance, organic acidaemias, Niemann-Pick type C, glycogenosis I, III, and IV, ocl antitrypsin deficiency, peroxisomal disorders, primary defects of bile acid synthesis, cystic fibrosis, Byler disease, Wolman disease, and neonatal infections were excluded. The mother was aged 22 at the birth of patient 1. Her liver function and basal iron metabolism, assessed six months after the birth of patient 2, showed slightly raised iron (2-04 mg/l, normal range 0 6-1 5) and transferrin (4-12 g/l, normal range from 2-4-3-8 1). On CT scan, attenuation of the liver was normal and the difference from splenic attenuation was not significant. Hepatic, renal, splenic, and adrenal iron storage, estimated through abdominal MRI scan, by TI, T2, and gradient echo sequenc...

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