Introduction

Cleft lip and palate (CL-P) are reported in around 2–3% of newborns with oesophageal atresia [1–4]. An adverse association between oesophageal atresia (OA) and CL-P has been documented in a single study [4]. In light of these findings we sought to analyse the survival and outcome of babies with OA and CL-P at a specialist UK paediatric surgery centre.

Methods

Hospital case records of all newborns admitted with a diagnosis of OA were examined. Demographics, associated anomalies and the Spitz classification were recorded. Mortality and causes of death were further studied in OA babies with associated CL-P.

Results

A total of 152 patients were admitted to the regional neonatal surgical unit with a diagnosis of OA during the 15 year period 1980–2004. Five (3%) babies (2 male, 3 female) were identified with associated CL-P anomalies. The mean birth weight of this cohort was 2.23 kg (range 1.57–2.8). All infants with CL-P birth defects had common variant OA with a distal tracheo-oesophageal fistula (TEF). There were no cases of ‘long gap’, H type fistula or pure OA in this patient group. Five infants were identified as Spitz group 2 (<1.5 kg or major cardiac anomaly) according to the classification proposed by Great Ormond Street Children’s Hospital [1]. All of these babies had a co-existent cardiac anomaly (tetralogy of Fallot n = 3, dextrocardia, VSD + PDA n = 1, coarctation of aorta n = 1). Data for these infants are summarised in Table 1. Four newborns had a primary oesophageal anastomosis with corrective division and repair of the TEF. Three (60%) babies with facial clefts died following repair of their OA-TEF, compared to 8/147 in the non-cleft group (p < 0.005; Fisher’s exact test). Of these three deaths, two newborns had major cardiac anomalies (patient no. 2 had a PDA and VSD with dextrocardia, and patient no. 4 had tetralogy of Fallot with a large PDA and an abnormal pulmonary arterial system) leading to fatality, and one child had a lethal chromosomal anomaly—Edward’s syndrome (trisomy 18) with tetralogy of Fallot—resulting in withdrawal of active treatment. Both survivors with CL-P (patient numbers 1 and 3 on Table 1) had features of the VACTERL sequence: one of these babies also had Goldenhaar syndrome, and the other aortic coarctation. Both children enjoy a good quality of life and are performing well at mainstream school.

Discussion

In this study we report a 3% incidence of CL-P associated with OA-TEF in a regional UK neonatal surgical centre treating >10 new index cases annually. This observation concurs with findings recently reported from Amsterdam and Great Ormond Street, London [1–4]. Is CL-P a marker of poor outcome in babies with OA-TEF as suggested by Spitz and colleagues? [4]. Our study would seem to indicate that cardiac and chromosomal anomalies are a better indicator for lethality. This is in agreement with a critical analysis highlighted by Deurloo and Aaronson from the Netherlands [3]. Fatalities in this ‘high risk’ group are closely linked to the severity of the underlying congenital heart disease and lethal chromosomal anomalies. The incidence of cardiac problems in CL-P patients is variably reported to range between 1.3 and 15% [5–7]. Survivors in our study enjoy a good quality of life and attend mainstream schools. This modest success has been attributed to multidisciplinary management linking several specialist teams—intensivists, neonatologists, surgeons, respiratory paediatricians and skilled nursing staff. In the assessment of a newborn with OA-TEF and facial cleft, clinicians must maintain a high index of suspicion of associated congenital heart disease. This study reinforces the requirement for complete pre-operative cardiac assessment in these complex newborns to guide treatment and decision making. Counselling following diagnosis in the antenatal and postnatal period should carefully reflect these issues.

Table 1 Details of patients with oesophageal atresia and associated cleft lip-palate anomalies
Full size table