Prenatal Diagnosis in 200 Pregnancies with a 1-in-4 Risk of Cystic Fibrosis

Boué, A; Müller, Françoise; Nézelof, C; Oury, J.-F.; Duchatel, F.; Aubry, Maxime; Boué, J

doi:10.1097/00006254-198742060-00005

Cited by 14 publications

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“…The high levels of α‐fetoprotein might be explained by protein leakage from intestines. The low levels of maltase, γ‐glutamyl transferase, and intestinal alkaline phosphatase might be explained by protein plugs obstructing the passage for intestinal microvillar enzymes through the intestines as previously reported for cystic fibrosis [Boué et al, 1986]. This suggests that protein‐losing enteropathy or intestinal obstruction in Urioste syndrome may sometimes be identified by α‐fetoprotein and intestinal enzyme assays, respectively, in amniotic fluid.…”

Section: Discussionsupporting

confidence: 52%

Lymphangiectasia with persistent M�llerian derivatives: Confirmation of autosomal recessive Urioste syndrome

et al. 2001

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We report on a sibship with protein‐losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient was born with a protein‐losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein‐losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed müllerian duct remnants. These cases seem to confirm the Urioste syndrome [Urioste et al., 1993: Am J Med Genet 47:494–503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity.

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Section: Discussionsupporting

confidence: 52%

Lymphangiectasia with persistent M�llerian derivatives: Confirmation of autosomal recessive Urioste syndrome

et al. 2001

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“…Nevertheless, despite the progress accomplished over recent decades in the field of CF research, the majority of at-risk couples choose to undergo prenatal diagnosis in France. The current proportion of abortions following a positive diagnosis is high, varying from 64% to 100% (Boué et al 1986;Green et al 1993). In our study, this rate was measured at 88.5%.…”

Section: Discussionmentioning

confidence: 50%

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

et al. 2003

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Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992-2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.

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“…If we take into account the 25% risk of CF parents of having an affected child, these results suggest that most parents with an affected foetus choose to abort it. Different studies showed that among parents of children with CF, actual abortions for CF after positive prenatal diagnosis in different studies were 64±100% (Boue Â et al, 1986;Super et al, 1987;Feldman et al, 1989;Dudding et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)

Henneman

Bramsen

et al. 2001

Prenat. Diagn.

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Prenatal Diagnosis in 200 Pregnancies with a 1-in-4 Risk of Cystic Fibrosis

Cited by 14 publications

References 0 publications

Lymphangiectasia with persistent M�llerian derivatives: Confirmation of autosomal recessive Urioste syndrome

Lymphangiectasia with persistent M�llerian derivatives: Confirmation of autosomal recessive Urioste syndrome

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)

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