Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive Genotyping Needed?

In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator () gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene.

Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France.

Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners.

The uses of ultrasonography in relation to foetal malformations in Rio de Janeiro, Brazil.

The world-wide diffusion of prenatal ultrasound has encountered local historical, cultural and political particularities. The purpose of this article is to study the varied uses of this technology in cases of detection of a foetal anomaly, in Rio de Janeiro, in a context of generalized access to ultrasound, restrictive legislation on abortion and major social inequalities. An ethnographic approach was chosen combining from 2009 to 2011, observations of prenatal consultations and interviews with specialist physicians and pregnant women, in both public and private sector institutions.

Women's experience of termination of pregnancy for fetal anomaly: effects of socio-political evolutions in France.

Objective: To analyse the experiences of women facing a termination of pregnancy for fetal anomaly (TOPFA) in relation to decisional aspects, attitudes towards the fetus' body and the effects of postpartum depression. The method is based on a two-stage questionnaire given to 120 women who underwent a TOPFA between 2005 and 2006 in a Parisian Prenatal Diagnosis Department and compared to a similar study carried out in 1999 in the same department.

Results: In 2005, 68/120 women (57%) compared to 32/103 (32%) in 99 (p < 0.