Gastroschisis; perinatal and postnatal aspects

Abstract

Nowadays, gastroschisis is almost always diagnosed prenatally during routine first and second trimester ultrasound examinations. The pathogenesis of gastroschisis is still poorly understood and counselling the parents expecting a child with gastroschisis is challenging. Not much is known about the long-term outcome of these children. To determine short-term outcome of children born with isolated gastroschisis (no extra-gastrointestinal congenital abnormalities) we performed an international cohort study and a meta-analysis. Seventeen studies were included for further meta-analysis comprising a total of 1652 patients. The mean time to full enteral feeding (TFEF) was 35.3 ± 4.4 days, length of ventilation was 5.5 ± 2.0 days, length of stay (LOS) was 46.4 ± 5.2 days and mortality risk was 0.06 (0.04-0.07 95%-CI). TFEF, ventilation time, LOS were significant longer and mortality rate was 3.64 (1.95 – 6.83 95%-CI) times higher in complex cases (born with bowel atresia, volvulus, perforation or necrosis). To assess the long-term outcome of gastroschisis we determined motor, cognitive and behavioural outcomes of sixteen school aged children born with gastroschisis compared to 32 controls matched for gender, gestational age, birth weight, and corrected for socioeconomic status and being small for gestational age. The median verbal intelligence quotient and global executive functioning scores of children born with gastroschisis were poorer than of controls. Children with gastroschisis were more often classified as borderline or abnormal than controls regarding response inhibition, selective visual attention, sustained auditory attention, and fine motor skills. Grade retention was more prevalent in gastroschisis children. The follow-up of children born with gastroschisis deserves attention regarding these specific domains, to improve their functional outcomes. Structural clinical examination directed to morphologic anomalies and genetic testing was performed in 21 gastroschisis children and their parents and compared to a validated control group to assess the value of genetic testing and morphological examination in the gastroschisis population. We detected significantly more minor morphological anomalies, one de novo copy number variation and one, possibly two, monogenetic disorders in two children with severe intellectual and motor retardation. Pediatric follow-up, syndrome diagnosis and genetic analysis are indicated in children with gastroschisis, especially when additional anomalies and/or intellectual disability present. A prospective longitudinal national multi-centre study with fetal ultrasound assessment and surveillance according to a standard protocol was performed in order to assess ultrasound markers related to outcome of isolated gastroschisis cases. The primary outcome was simple or complex gastroschisis and secondary outcomes were TFEF, LOS and mortality. Seventy-nine (80.6%) liveborn infants had simple and 19 (19.4%) had complex gastroschisis. There were 3 neonatal deaths, one in the simple and 2 in the complex group. TFEF and LOS were significantly longer in the complex cases compared to the simple group. Based on this large prospective longitudinal study we conclude that only the intra-abdominal bowel dilation appears to be associated with complex gastroschisis especially. However, high cut-off values have to be applied to identify some of those cases reliably.