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

Boué, A; Müller, Françoise; Nézelof, C; Oury, Jean; Duchatel, F.; Dumez, Y; Aubry, M. C.; Boué, J

doi:10.1097/00006254-198706000-00005

Cited by 7 publications

(14 citation statements)

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“…Although life expectancy has greatly improved, CF remains a severe disease, and the number of requests for prenatal diagnosis is high. Prenatal diagnosis has consisted of assessing amniotic fluid digestive enzyme (AF-DE) activities at 17 weeks' gestation (2,3 ). AF-DE patterns are related to the physiological maturation of the fetal digestive tract.…”

Section: Discussionmentioning

confidence: 99%

“…In France, informed consent is adequate for samples collected as part of routine care, and local ethics committee approval is not required. AF-DEs, including ␥-glutamyltranspeptidase (GGTP), aminopeptidase M (AMP), and the intestinal isoform of alkaline phosphatase (iALP) were assayed (3,9 ). Results were expressed in percentiles previously defined for 10 000 control cases.…”

Section: Discussionmentioning

confidence: 99%

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Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Oca

Dreux²,

Gérard

et al. 2009

Clinical Chemistry

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Background: The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the severity of CFTR mutations. Methods: The AF-DE pattern (γ-glutamyltranspeptidase, aminopeptidase M, and the intestinal isoform of alkaline phosphatase) was retrospectively analyzed in 43 AF samples. All fetuses presented 2 CFTR mutations, which were classified according to the severity of the disease: CF/CF (n = 38); CF/CFTR-related disorders (n = 1); and CF/unknown variant (n = 4). The relationships between clinical CF status, CFTR mutations, and AF-DE pattern were studied. Results: Of 38 severely affected CF fetuses, an “obstructive” AF-DE pattern was observed in 15 of 15 samples collected before 22 weeks, irrespective of the CFTR mutation (diagnostic sensitivity, 100%; diagnostic specificity, 99.8%). In the 23 fetuses evaluated after 22 weeks, the AF-DE pattern was abnormal in 7 cases and noncontributive in 16 (diagnostic sensitivity, 30.4%; diagnostic specificity, 99.8%). Of the 5 questionable cases (F508del/N1224K, F508del/L73F, 3849+10kbC>T/G1127E, F508del/S1235R, F508del/G622D), all were CF symptom free at 2–4 years of follow-up. The AF-DE pattern (<22 weeks) was typical in 3 cases but abnormal in the last 2 cases. Conclusions: AF-DE analysis is of value for prenatal CF diagnosis in classic forms of CF and could be helpful in nonclassic CF.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Oca

Dreux²,

Gérard

et al. 2009

Clinical Chemistry

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“…This article was presented at the American Society of Human Genetics, Cincinnati, Ohio, October 19, 1990.…”

Section: Acknowledgmentsmentioning

confidence: 99%

Attitudes toward abortion among parents of children with cystic fibrosis.

Wertz¹,

Rosenfield²,

Janes³

et al. 1991

Am J Public Health

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BACKGROUND: DNA prenatal diagnosis for cystic fibrosis (CF) has been available for parents of affected children since late 1985. METHODS: Using anonymous questionnaires, we surveyed 395 parents of children with CF at 12 New England CF centers with regard to 12 maternal or family situations and 11 fetal characteristics; 271 (68%) responded. RESULTS: The majority supported legal abortion in the first trimester for all 23 situations; 58% would abort for severe mental retardation (MR), 40% would abort for a genetic disorder leading to death before age five years, 41% for a child bedridden for life, 35% for moderate MR, 20% for CF and 17% for a severe incurable disorder starting at age 40 years. Few would abort for a disorder starting at age 60 years, for genetic susceptibility to alcoholism or for sex selection. Variables most strongly related to abortion for CF were attitudes of spouse, respondent's siblings, and CF doctor toward abortion for CF as well as infrequent attendance at religious services. CONCLUSIONS: Prenatal diagnosis may not reduce substantially the number of CF births to parents of CF children because most do not accept abortion for CF.

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“…PAS-positive material, with an irregular distribution, was noted in pancreatic acini of a human foetus of 19 weeks' gestation. The ducts were empty, indicating that the earliest lesions in cystic fibrosis are not ductular but involve acinar cells and their secretion [20]. There is decrease in the pancreatic enzyme concentrations in the amniotic fluid of pregnancies with a cystic fibrosis foetus.…”

Section: Pathophysiologymentioning

confidence: 96%

Paediatric and Hereditary Aspects of Chronic Pancreatitis

Dodge

1998

Digestion

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Cystic fibrosis is by far the commonest cause of chronic pancreatitis in children, but pancreatitis itself is only rarely its presenting feature. In this paper an hypothesis for the development of the pancreatic lesions is presented. Impaired activation of pancreatic proteases in the small intestine is perceived as the pivotal problem that leads to continual feedback release of cholecystokinin, thus, in effect, causing a chronic hyperstimulation pancreatitis with intra-acinar activation of zymogens and, when bicarbonate secretion falls, precipitation of ‘Reg’ and other proteins in the duct system. This position contrasts with that in hereditary pancreatitis in which a mutation in the cationic trypsinogen gene leads to a form of trypsin that resists degradation by mesotrypsin and enzyme Y. A survey of the literature suggests that oxidant stress is a plausible contributor to pancreatic injury in both these diseases and in several other conditions linked with childhood pancreatitis.

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

Cited by 7 publications

References 0 publications

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Attitudes toward abortion among parents of children with cystic fibrosis.

Paediatric and Hereditary Aspects of Chronic Pancreatitis

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