Antenatal screening for cystic fibrosis. 1996

H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
Centre for Reproduction, Growth and Development, University of Leeds, UK.

OBJECTIVE To assess the practicality of implementing antenatal screening for cystic fibrosis in Yorkshire. METHODS Prospective study in which all pregnant women were offered testing for the delta F508 mutation which accounts for about 85% of carriers in Yorkshire. The reproductive partners of those found to be cystic fibrosis carriers were then tested and any carrier referred for genetic counselling. METHODS Antenatal clinics in two hospitals and eight general practices. METHODS Six thousand and seventy-one pregnant women. RESULTS A total of 3773 women (62%) accepted the screening offer. This was a lower uptake rate than in other published UK studies: Aberdeen (85-91%), Manchester (85%), Edinburgh (76-84%) and Oxford (67%). Nonetheless there were large and statistically significant differences in the uptake rate between centres within the study: 78% and 60% for the two hospitals and 67% for the general practices. One hundred and thirty women (3.4%) were found to be carriers and three carrier couples were identified. The median time interval for the laboratory to produce a result was five days and the cost was pounds 16 on average. CONCLUSIONS Antenatal screening for cystic fibrosis does not pose any special practical difficulties. It would be feasible to introduce it into routine practice in Yorkshire.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010342 Patient Acceptance of Health Care Patients' willingness to receive health care. Acceptability of Health Care,Health Care Seeking Behavior,Acceptability of Healthcare,Acceptors of Health Care,Health Care Utilization,Nonacceptors of Health Care,Patient Acceptance of Healthcare,Care Acceptor, Health,Care Acceptors, Health,Care Nonacceptor, Health,Care Nonacceptors, Health,Health Care Acceptability,Health Care Acceptor,Health Care Acceptors,Health Care Nonacceptor,Health Care Nonacceptors,Healthcare Acceptabilities,Healthcare Acceptability,Healthcare Patient Acceptance,Healthcare Patient Acceptances,Utilization, Health Care
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D003365 Costs and Cost Analysis Absolute, comparative, or differential costs pertaining to services, institutions, resources, etc., or the analysis and study of these costs. Affordability,Analysis, Cost,Cost,Cost Analysis,Cost Comparison,Cost Measures,Cost-Minimization Analysis,Costs and Cost Analyses,Costs, Cost Analysis,Pricing,Affordabilities,Analyses, Cost,Analyses, Cost-Minimization,Analysis, Cost-Minimization,Comparison, Cost,Comparisons, Cost,Cost Analyses,Cost Comparisons,Cost Measure,Cost Minimization Analysis,Cost, Cost Analysis,Cost-Minimization Analyses,Costs,Measure, Cost,Measures, Cost
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004739 England A part of Great Britain within the United Kingdom.
D005194 Family Practice A medical specialty concerned with the provision of continuing, comprehensive primary health care for the entire family. Family Practices,Practice, Family,Practices, Family
D005260 Female Females

Related Publications

H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
May 1995, BMJ (Clinical research ed.),
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
April 2003, Revue d'epidemiologie et de sante publique,
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
July 1994, BMJ (Clinical research ed.),
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
January 1995, Health economics,
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
July 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society,
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
June 1994, BMJ (Clinical research ed.),
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
May 2001, Combinatorial chemistry & high throughput screening,
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
October 1993, Paediatric and perinatal epidemiology,
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
February 1995, BMJ (Clinical research ed.),
H Cuckle, and P Quirke, and I Sehmi, and F Lewis, and J Murray, and D Cross, and P Cuckle, and B Ozols
April 1996, BMJ (Clinical research ed.),
Copied contents to your clipboard!