Prenatal ultrasound diagnosis of frontonasal dysplasia

We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal detection of X-linked ichthyosis by maternal serum screening for down syndrome

Maternal serum unconjugated oestriol (uE3) was measured in 15 375 pregnancies during 2 years of second-trimester risk assessment for Down syndrome using biochemical markers. Very low levels of uE3 (<0·1 MOM) were detected in 22 serum samples (0·14 per cent). Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage (N=11), anencephaly (N=1), and Meckel—Gruber syndrome (N=1). Dry scales on the skin appeared in the first year of life in four boys. From dermatological diagnosis, prenatal uE3 levels, and pedigree analysis, it is concluded that at least 5 in approximately 7500 male births in the study population are affected by steroid sulphatase deficiency, which is the biochemical defect in X-linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.     

Human immuno-deficiency virus and infant feeding in complex humanitarian emergencies: priorities and policy considerations

Issues surrounding mother-to-child transmission of HIV/AIDS pose considerable challenges in complex humanitarian emergencies. The risk of vertical transmission through breastfeeding is well recognised, but safe alternatives are limited by the social, economic and environmental conditions of emergency situations. In 2000, the World Health Organisation published a technical report on behalf of the UNFPA/UNICEF/WHO/UNAIDS Inter-agency Task Team on Mother-to-child Transmission of HIV which outlined revised recommendations for infant feeding by HIV-positive women. This paper outlines reasons why these recommendations may be insufficient during the initial stages of complex humanitarian emergencies and proposes recommendations for establishing infant-feeding policy. Methods of mother-to-child transmission of HIV are reviewed and recent research findings are discussed. Rationale for modifying the 2000 UNFPA/UNICEF/WHO/UNAIDS infant-feeding recommendations in complex emergency situations is explored from the perspective of the infant, the mother and humanitarian field staff. Ethical limitations and future priorities are considered. The paper concludes with recommendations and a policy decision-making framework for consideration during the initial stages of humanitarian crises.