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The Swedish Birth Defects Registry: ascertainment and incidence of spina bifida and cleft lip/palate
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Obstetrisk forskning/Axelsson)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Obstetrisk forskning/Axelsson)
Swedish Birth Defects Registry, National Board of Health and Welfare, Stockholm, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2009 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 88, no 6, 654-659 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: To assess the ascertainment of spina bifida and cleft lip/palate (CLP) in newborns and in fetuses from terminated pregnancies (ToPs) in the Swedish Birth Defects Registry (BDR) and to estimate the true incidences of these two anomalies. DESIGN: Retrospective register study. SETTING: Center for Epidemiology at the Swedish National Board of Health and Welfare, and Uppsala University Hospital. POPULATION: Newborns and fetuses from ToPs with spina bifida (1999-2004) and CLP (1999-2002) in Sweden. METHODS: Data from four registries/sources were used to estimate ascertainment in BDR and incidences of spina bifida and CLP. Main outcome measure: Ascertainment, under-ascertainment, and true incidence. RESULTS: For newborns, under-ascertainment of spina bifida and CLP were 6 and 13%, respectively, in BDR after record linkage with the Medical Birth Registry. Ascertainment of cleft palate increased when accompanied by cleft lip. The under-ascertainment of spina bifida in ToPs after 18 gestational weeks was 27%. Ascertainment of CLP in all ToPs and of spina bifida in ToPs before the 18th gestational week could not be estimated. The majority (109/155, 70%) of ToPs with spina bifida occurred before the 18th week. The estimated incidence of spina bifida per 10,000 births was 6.1 (2.4 newborns and 3.7 ToPs) and of CLP 20.1 (18.9 newborns and 1.2 ToPs). CONCLUSION: The ascertainments are relatively high for newborns in BDR, but lower or unknown for ToPs, which has an impact on the surveillance of spina bifida in view of the high proportion of ToPs.

Place, publisher, year, edition, pages
2009. Vol. 88, no 6, 654-659 p.
Keyword [en]
Birth defects registry, ascertainment, cleft lip/palate, spina bifida, termination of pregnancies
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-106006DOI: 10.1080/00016340902934696ISI: 000267201800006PubMedID: 19412801OAI: oai:DiVA.org:uu-106006DiVA: diva2:223245
Available from: 2009-06-11 Created: 2009-06-11 Last updated: 2010-07-23Bibliographically approved
In thesis
1. Fetal Anomalies: Surveillance and Diagnostic Accuracy of Ultrasound and Magnetic Resonance Imaging
Open this publication in new window or tab >>Fetal Anomalies: Surveillance and Diagnostic Accuracy of Ultrasound and Magnetic Resonance Imaging
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The aims were to investigate the accuracy of ultrasound in diagnosis of structural fetal anomalies with special focus on false positive findings (I), to evaluate the additional value of second trimester fetal MRI on pregnancy management (II-III) and to estimate the ascertainment in the Swedish Birth Defects Registry and incidence of spina bifida and cleft lip/palate (IV).

Retrospectively, 328 fetal autopsies were identified where pregnancies were terminated due to ultrasonographically diagnosed fetal anomalies. In 175 (53.4 %) cases ultrasound and fetal autopsy were identical, in 124 (37.8 %) ultrasound was almost correct, in 23 (7.0 %)  ultrasound diagnoses could not be verified, but fetal autopsy showed other anomalies with at least the same prognostic value and in six (1.8 %)  ultrasound diagnosis could not be verified and autopsy showed no or less severe anomalies (I).

Prospectively, 29 pregnancies with CNS- (II) and 63 with non-CNS-anomalies (III) were included. In the CNS study MRI provided no additional information in 18 fetuses (62 %), additional information without changing the management in 8 (28 %) and additional information altering the pregnancy management in 3 (10%). In the non-CNS study the corresponding figures were 43 (68 %), 17 (27 %) and three (5 %), respectively. MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when the ultrasound is inconclusive due to maternal obesity (II) and in non-CNS anomalies in cases of diaphragmatic hernia or oligohydramnios (III).

In newborns, the ascertainments of birth defects are relatively high and assessable, but in pregnancy terminations they are lower or unknown. The incidence of newborns with spina bifida has decreased because of an increased rate of pregnancy terminations (>60%). There is room for improvement concerning the reporting of anomalies from terminated pregnancies (IV).

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2010. 64 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 545
Keyword
Pregnancy termination, fetal anomalies, antenatal diagnosis, ultrasound, second trimester, fetal MRI, CNS anomalies, pregnancy management, non-CNS anomalies, fetal autopsy, birth defects registry, ascertainment, spina bifida, cleft lip/palate
National Category
Obstetrics, Gynecology and Reproductive Medicine Obstetrics, Gynecology and Reproductive Medicine
Research subject
Obstetrics and Gynaecology
Identifiers
urn:nbn:se:uu:diva-121503 (URN)978-91-554-7763-9 (ISBN)
Public defence
2010-05-07, Rudbeck auditorium, Rudbeck Laboratory, entrance C11, Uppsala, 09:15 (Swedish)
Opponent
Supervisors
Available from: 2010-04-16 Created: 2010-03-24 Last updated: 2010-04-16

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