Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: A national validation study

Rozendaal, Anna M.; Luijsterburg, Antonius J.M.; Ongkosuwito, Edwin M.; Boogaard, Marie José H. Van Den; Vries, Esther de; Hovius, Steven E.R.; Vermeij‐Keers, Christl

doi:10.1016/j.bjps.2011.12.002

Cited by 23 publications

(49 citation statements)

References 28 publications

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“…Moreover, a selection of registry data has recently been validated and completed by a review of medical data, after a median follow-up period of 5 years 20–22. This selection of validated data was used to complement our analysis on associated anomalies and chromosomal defects in postnatally detected clefts 22. In addition, the annual NVSCA reports 1997–2010 were used to provide an inventory of the different syndromes and chromosomal defects that had been identified postnatally 23 24.…”

Section: Methodsmentioning

confidence: 99%

“…Also, the validated and completed NVSCA data were further analysed according to these three categories 22. For studies not distinguishing CL and CLP, the category of CL±P was used.…”

Section: Methodsmentioning

confidence: 99%

“…For studies providing karyotype information for isolated and/or associated cases, we calculated separate rates of chromosomal defects among isolated (if available) and associated clefts 6–8 13–15 22 25–27. If studies did not provide numbers of karyotyped cases, but reported routine karyotyping of associated clefts (as in daily practice), we assumed that the majority of associated clefts were karyotyped 13 22.…”

Section: Methodsmentioning

confidence: 99%

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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

et al. 2012

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Prenatal counselling regarding prognosis and risk of chromosomal defects should be tailored to cleft category, and more importantly to the presence/absence of associated anomalies. Irrespective of cleft category, clinicians should advise invasive genetic testing if associated anomalies are seen prenatally. In the absence of associated anomalies, prenatal conventional karyotyping is not recommended in CL, although array comparative genomic hybridisation should be considered. In presumed isolated CLP or CP, prenatal invasive testing, preferably by array based methods, is recommended.

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Section: Methodsmentioning

confidence: 99%

“…Also, the validated and completed NVSCA data were further analysed according to these three categories 22. For studies not distinguishing CL and CLP, the category of CL±P was used.…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

et al. 2012

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“…Under-reporting of prevalence like that found in our study hides the extent to which birth defects affect a population. When such information is part of the planning or evaluation of prevention strategies it can lead to erroneous conclusions about the effectiveness of a programme and can influence health policies and the allocation of resources [37]. Our study demonstrates that birth registry data can serve to improve existing surveillance data, increases case ascertainment and reduces the effects of possible under-reporting by physicians.…”

Section: Discussionmentioning

confidence: 92%

“…Since not all birth defects are detectable at delivery or even during the neonatal period, some defects, such as hearing defects or mental disorders, remain under-reported. Another deficiency is incomplete or incorrect recording by physicians [9]. …”

Section: Introductionmentioning

confidence: 99%

Under-reporting of major birth defects in Northwest Russia: a registry-based study

Kovalenko

Brenn

Odland

et al. 2017

International Journal of Circumpolar Health

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The objective was to assess the prevalence of selected major birth defects, based on data from two medical registries in Murmansk County, and compare the observed rates with those available for Norway and Arkhangelsk County, Northwest Russia. It included all newborns (≥22 completed weeks of gestation) registered in the Murmansk County Birth Registry (MCBR) and born between 1 January 2006 and 31 December 2009 (n=35,417). The infants were followed-up post-partum for 2 years through direct linkage to the Murmansk Regional Congenital Defects Registry (MRCDR). Birth defects identified and confirmed in both registries constituted the “cases” and corresponded to one or more of the 21 birth defect types reportable to health authorities in Moscow. The overall prevalence of major birth defects recorded in the MRCDR was 50/10,000 before linkage and 77/10,000 after linkage with the MCBR. Routine under-reporting to the MRCDR of 40% cases was evident. This study demonstrates that birth registry data improved case ascertainment and official prevalence assessments and reduced the potential of under-reporting by physicians. The direct linkage of the two registries revealed that hypospadias cases were the most prevalent among the major birth defects in Murmansk County. A bbreviations: ICD-10, International Classification of Diseases, 10th revision; MCBR, Murmansk County Birth Registry; MRCDR, Murmansk Regional Congenital Defects Registry; MGC, Murmansk Genetics Center

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Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature

Paes

Nunen

Basart

et al. 2015

American J of Med Genetics Pt A

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The birth prevalence of Robin sequence (RS) is frequently cited to be 1 in 8,500 to 14,000 live births (range: 7,1-11,8 per 100.000), which is based on just a few epidemiological studies. The objective of this study is to contribute to the limited knowledge of the epidemiology of RS by determining the frequency of RS in a cleft palate (CP) population and the estimated birth prevalence in live births in the Netherlands, using distinct diagnostic criteria. A retrospective population-based analysis of the National Cleft Registry was performed in order to obtain all CP patients registered in the Netherlands from 2000-2010, in addition to a thorough review of the medical records in three Dutch Academic Pediatric Hospitals for the same period. Furthermore, a systematic search of the literature was conducted to allow for comparison of our findings. The Dutch birth prevalence of RS was estimated to be 1:5,600 live births (or 17.7 per 100,000), with a slight female predominance. RS was estimated to occur in a third of the CP population and patients with RS had a more severe cleft grade than the general CP population. The literature search yielded 42 studies reporting the birth prevalence for RS, which varied between 1:3,900 and 1:122,400 (0.8-32.0 per 100,000), with a mean prevalence of 1:24,500 (8.0 per 100,000). The birth prevalence of RS in the Netherlands was higher than reported for most other countries when similar diagnostic criteria were used, with a slight female predominance. A third of the general CP could be classified as RS.

show abstract

Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: A national validation study

Cited by 23 publications

References 28 publications

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Under-reporting of major birth defects in Northwest Russia: a registry-based study

Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature

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