[Newborn screening : the point of view of the paediatrician]. / Dépistage néonatal : le point de vue du pédiatre.

Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries in which it is organized. Demographic, epidemiological or economic factors play a role in the choice of the screening panel. In the French Community of Belgium, the programme focuses on 13 metabolic and endocrine diseases, hearing loss and hemoglobinopathies (Brussels and Liege). Newborn screening is a complex process that requires the involvement of all stakeholders : parent information, blood sampling or testing, lab analysis, follow-up of the results, initiate adequate care in case of positive test and genetic counselling. Newborn screening programmes will evolve in the next years. New therapeutic and diagnostic methods will make other genetic diseases candidates for screening. Whole genome sequencing may be the next expansion; it will create new opportunities but will pose new ethical dilemmas. We must all prepare now for future challenges.

Apertura pyriformis stenosis in the newborn.

Apertura pyriformis stenosis in the newborn. Respiratory distress in the newborn can have a variety of aetiologies, the best known of which are cardiac and pulmonary diseases. Major nasal airway obstruction is probably often overlooked when acute desaturation of the neonate requires reanimation procedures, although it is well established that the baby is an obligate nose breather at birth. Nasal airway stenosis or atresia could account for a number of unexplained deaths in the delivery room. In the differential diagnosis of major nasal airway obstruction in the newborn, choanal atresia is by far the most common aetiology. However, a few cases of pyriform aperture stenosis have been reported. One child presenting this pathology was recently treated at the Brussels University Children's Hospital. Unexpectedly, the baby survived until 3 months without any medical support but had severe feeding problems. The diagnosis was confirmed by naso-sinusal CT scan. Surgery was performed at 4 months through an unusual endonasal approach which seems to be less traumatic than the classical sublabial approach. The post-operative course was satisfactory. The 9-month-old patient does not now show residual breathing problems. The presentation will focus on this unusual case.