Anterior abdominal wall defects managed at a tertiary maternal-fetal medicine service in New Zealand: What counselling advice can we offer parents?

BACKGROUND: Anterior abdominal wall defects, including gastroschisis and omphalocoele, are common fetal anomalies. The management remains complicated, and their diagnosis may lead to significant parental distress. Effective parental counselling may impact on parental perceptions of the defect and help guide pregnancy management. AIMS: Using contemporary data, we aimed to describe clinical outcomes of patients with gastroschisis or omphalocoele in order to provide information for clinicians to assist in parental counselling. MATERIALS AND METHODS: We followed a case-series of patients with anterior abdominal wall defects referred to our regional Maternal Fetal Medicine services from 2011 to 2016. Outcomes of interest antenatally included details of diagnosis, associated anomalies and outcomes of pregnancy and postnatally included the nature of surgical repair, hospital stay and secondary complications until initial discharge. RESULTS: Eighty babies with gastroschisis were referred antenatally, and 72 were liveborn. Forty-nine babies with omphalocoele were referred antenatally, and 24 were liveborn. One further neonate with omphalocoele was postnatally diagnosed. Seventy-one neonates with gastroschisis progressed to operation, 30 developed complications post-surgery, and 68 survived until initial discharge. Twenty-two neonates with omphalocoele progressed to surgery, only two developed complications, and 21 survived until initial discharge. Eight of the surviving neonates with omphalocoele had associated structural abnormalities. The median hospital stay was 27 and eight days for gastroschisis and omphalocoele, respectively. CONCLUSION: Neonates with gastroschisis can have complex postnatal periods. Omphalocoele is associated with high antenatal mortality, especially in the presence of associated abnormalities; however, surviving neonates may have uneventful postnatal periods.

Outcome of fetal cerebral posterior fossa anomalies.

INTRODUCTION: Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS: Cases were identified from the Northern Congenital Abnormality Survey (NorCAS) and regional Fetal Medicine Unit databases for the period 1986-2004 for DWM/V and 1995-2005 for MCM (defined as a cisterna magna > or =10 mm). Outcome data was obtained from pediatric records and/or general practitioner/health visitor questionnaires for all survivors. RESULTS: A prenatal diagnosis of a posterior fossa abnormality was made in 91 cases, with a further 12 cases of DWM/V diagnosed postnatally, giving incidences of DWM/V and MCM of 1/11574 and 1/8268 births respectively. In five cases where DWM/V was suspected prenatally, the diagnosis was not confirmed. Of the 47 with DWM/V, 41 (87%) had additional anomalies. There were three survivors, all with neurodevelopmental disability. Of the 39 cases of MCM, 24 (62%) had additional anomalies. There were 30 survivors; one child died at 3 months and the outcome was normal in 25 children including 12/13 (92%) with isolated MCM. SUMMARY: Posterior fossa anomalies are relatively common. The outcome is very poor in DWM/V owing to the high rate of associated anomalies. The outcome appears better with MCM, especially if this is an isolated finding.

Expression and interaction of the transcriptional coregulators, CBP/p300, in the human myometrium during pregnancy and labor.

OBJECTIVE: In humans, the factors that govern the switch from myometrial quiescence to coordinated contractions at the initiation of labor are not well defined. Recent studies have highlighted a role for the coactivator, CREB binding protein (CBP), in the human myometrium during pregnancy and labor through its ability to acetylate histones. In the present study, the expression of CBP and its related coactivator, p300, were examined. METHODS: Levels and interactions of CBP and its paralogue p300 were determined by Western blotting, immunohistochemistry, and coimmunoprecipitation experiments using myometrial biopsy samples from nonpregnant (NP), pregnant nonlaboring (P), and spontaneously laboring (SL) women. RESULTS: Levels of CBP were seen to increase in term P myometrial samples but were then greatly reduced in SL myometrium. In contrast, levels of p300 remained uniform between NP, P, and SL tissues. These observations were confirmed by immunhistochemical analyses. Immunoprecipitation experiments highlighted that CBP was able to interact with CREB, CREM, ATF-2, and p300 in P lower segment myometrium. CONCLUSION: Recent evidence suggests that competition for CBP plays an important role in regulating gene expression during cell growth. Consequently our data suggest that the increase in myometrial CBP levels during pregnancy may occur to meet this increase in CBP demand. Moreover, from coimmunoprecipitation experiments, this increase in CBP expression would be expected to facilitate the transactivation potential of the cyclic adenosine monophosphate (cAMP)-dependent transcription factors CREB, CREM, and ATF-2.