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The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period.
MedLine Citation:
PMID:  22676508     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Please cite this paper as: Boyd P, Rounding C, Chamberlain P, Wellesley D, Kurinczuk J. The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period. BJOG 2012; DOI: 10.1111/j.1471-0528.2012.03373.x. Objective  To review changes in and impact of prenatal screening and diagnosis Design  Population-based congenital anomaly register study. Setting  Oxfordshire. Population  Congenital anomalies confirmed and those suspected prenatally, delivered 1991-2008. Methods  Analysis of proportions of congenital anomalies confirmed and those suspected prenatally. Main outcome measures  Birth prevalence, prenatal detection rates, pregnancy outcomes. Results  A total of 2651 (2.3%) infants/fetuses had a congenital anomaly diagnosed. There were 3839 suspected or confirmed cases, 2847 due to a prenatal suspicion, of which 1659 had an anomaly confirmed at delivery, and 1188 false-positive diagnoses, 91% due to reporting ultrasound normal variants. The percentage of prenatal notifications rose from 48% in 1991-93 to 83-88% from 1996 to 2003 and dropped to 61% in 2006-08, partly reflecting changes in the reporting of normal variants. Reporting these increased the prenatal diagnosis rate from 53 to 63% with an increase in false-positive rate from 0.09 to 1.04%. A total of 722 (44% of prenatally detected affected fetuses) resulted in termination; 48% of these had chromosome anomalies, 34% had isolated structural anomalies, 7% had multiple anomalies, 10% had familial disorders; 42% had lethal anomalies and 58% would probably have survived the neonatal period giving an estimated 20% reduction in birth prevalence of congenital anomalies compatible with survival because of terminations. Conclusion  There has been an improvement in prenatal detection of congenital anomalies over the two decades studied. The recognition that reporting normal variants, although increasing prenatal detection rates, leads to an increase in false-positive diagnoses has had an impact on practice that has redressed the balance between these two effects.
Authors:
Pa Boyd; C Rounding; P Chamberlain; D Wellesley; Jj Kurinczuk
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-7
Journal Detail:
Title:  BJOG : an international journal of obstetrics and gynaecology     Volume:  -     ISSN:  1471-0528     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100935741     Medline TA:  BJOG     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG.
Affiliation:
National Perinatal Epidemiology Unit Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford Princess Anne Hospital, Southampton University Hospitals NHS Trust, Southampton, UK.
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