Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes.

OBJECTIVE: This study aims to review temporal changes in perinatal management and 1-year survival outcomes of cases of congenital diaphragmatic hernia (CDH) from 1996 to 2015 in Western Australia (WA). METHOD: This research is a retrospective study of all cases of CDH in WA from 1996 to 2015 identified from five independent databases within the WA health network. Detailed information pertaining to pregnancy and survival outcomes were obtained from review of maternal and infant medical records. RESULTS: There were 215 cases of CDH with 164 diagnosed prenatally. Between 1996 and 2010, a decline in live birth rates for CDH-affected pregnancies was observed, reaching a nadir of 5.3 per 10 000 births before increasing to a peak of 9.73 per 10 000 births in 2011-2015. A corresponding decline was seen in the number of pregnancies terminated in the same period from 8.3 to 4.6 per 10 000 births (P = 0.14) and an increase in survival of live births from 38.9% to 81.3% (P = 0.01). CONCLUSION: The improved overall survival rate in infants with CDH over the last 20 years may have resulted in an increased tendency for women to continue their pregnancy with a concomitant decline in termination rates. Information from this study will help in the counselling of women following prenatal detection of CDH.

ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids.

We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration.