Objective-Determine factors predicting outcome in newborns with gastroschisisMethods-Retrospective analysis of 155 consecutive cases admitted from 1 January 1990 to 31 December 2007. Prenatal ultrasound findings were available for 89/155 (57%) patients and were compared to final outcome. Both univariate and multiple regression analyses were used.Results-All patients survived to discharge home. The primary outcome measure was length of stay (LOS). Multiple regression identified four factors associated with LOS: 1) gestational age (p=0.004), 2) non-elective silo (p<0.001), 3) gastrointestinal (GI) complication (intestinal atresia, perforation, or resection) (p<0.001), and 4) non-GI anomaly (p=0.029). Non-GI anomalies occurred in 17/155 (11%) patients and tended to increase the risk of a non-elective silo or GI complication (59% vs. 39%, p=0.190). Dilated bowel (>10 mm) on prenatal ultrasound was associated with GI complications (22% vs. 3%, p=0.010). However, 78% of patients with dilated bowel on prenatal ultrasound did not have a GI complication. The absence of dilated bowel on prenatal ultrasound accurately predicted the absence of GI complications in 97% of cases.Conclusion-Prematurity, non-elective silo, GI complications, and non-GI anomalies predict the short-term outcome of newborns with gastroschisis. Prenatal ultrasound serves primarily to predict the absence of GI complications.

BackgroundGastroschisis patients are commonly small for gestational age (SGA, birth weight [BW] < 10th centile). However, the extent, symmetry and causes of that growth restriction remain controversial.MethodsWe compared BW, crown-heel length (LT), occipitofrontal circumference (OFC) and ponderal index (PI) in 179 gastroschisis cases and 895 matched controls by univariate and multiple regression. Fetal ultrasounds (N = 80) were reviewed to determine onset of growth restriction. Placental histology was examined in 31 gastroschisis patients whose placental tissue was available and in 29 controls.ResultsGastroschisis cases weighed less than controls (BW = 2400 ± 502 g vs. 2750 ± 532 g, p < 0.001) and their BW frequency curve was shifted to the left, indicating lower BW as a group compared to controls (p < 0.001 by Kolmogorov-Smirnov test). BW differences varied from -148 g at 33 weeks to -616 g at 38 weeks gestation. Intrauterine growth restriction was symmetric with gastroschisis patients having a shorter LT (45.7 ± 3.3 vs. 48.4 ± 2.7 cm, p < 0.001), smaller OFC (31.9 ± 1.9 vs. 32.9 ± 1.6 cm, p < 0.001), but larger ponderal index (2.51 ± 0.37 vs. 2.40 ± 0.16, p < 0.001) compared to controls. Gastroschisis patients had a similar reduction in BW (-312 g, 95% confidence interval [CI] = -367, -258) compared to those with chromosomal abnormalities (-239 g, CI = -292, -187). Growth deficits appeared early in the second trimester and worsened as gestation increased. Placental chorangiosis was more common in gastroschisis patients than controls, even after removing all SGA patients (77% vs. 42%, p = 0.02).ConclusionsMarked, relatively symmetric intrauterine growth restriction is an intrinsic part of gastroschisis. It begins early in the second trimester, and is associated with placental chorangiosis.

Fifty consecutive cases of isolated congenital diaphragmatic hernia were reviewed for prenatal utlrasound and neonatal physical findings. These were compared to survival and the need for extracorporeal membrane oxygenation (ECMO). No prenatal findings predicted survival or the need for ECMO. In left-sided hernias, the presence of the liver in the chest predicted (p = 0.02) the requirement for ECMO. In a cohort of 13 prenatally diagnosed inborn cases, the ultrasound triad of polyhydramnios, mediastinal shift and intrathoracic stomach predicted the presence of liver in the chest (p < 0.03).

Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combinationof these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here). While the findings in these patients overlap with previously described genetic conditions, the similarity in phenotypes among these patients has led to the establishment of a at least one distinct syndrome: HPE, ectrodactyly, and bilateral cleft lip-palate syndrome (OMIM 300571). There has been great interest in identifying a genetic cause for the findings in patients with HPE and ectrodactyly; however the cause(s) of this rare association still remain unknown.

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