Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations
ABSTRACT Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate.
We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia.
A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations.
The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses.
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- "International differences in the prevalence of EA across different geographical regions may also be attributable to differences in case identification methods, case definition, and case ascertainment. Best estimates of prevalence of major birth defects, based on international data, are important to serve as a reference point for the evaluation of individual, regional, or national surveillance programs and to identify geographical regions of higher or lower than expected prevalence (Leoncini et al., 2008; Cocchi et al., 2010). Investigation of geographical differences may also provide an insight into the underlying etiology of EA. "
ABSTRACT: BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences may provide an insight into the underlying etiology of EA. METHODS: The study population comprised infants diagnosed with EA during 1998 to 2007 from 18 of the 46 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research. Total prevalence per 10,000 births for EA was defined as the total number of cases in live births, stillbirths, and elective termination of pregnancy for fetal anomaly (ETOPFA) divided by the total number of all births in the population. RESULTS: Among the participating programs, a total of 2943 cases of EA were diagnosed with an average prevalence of 2.44 (95% confidence interval [CI], 2.35-2.53) per 10,000 births, ranging between 1.77 and 3.68 per 10,000 births. Of all infants diagnosed with EA, 2761 (93.8%) were live births, 82 (2.8%) stillbirths, 89 (3.0%) ETOPFA, and 11 (0.4%) had unknown outcomes. The majority of cases (2020, 68.6%), had a reported EA with fistula, 749 (25.5%) were without fistula, and 174 (5.9%) were registered with an unspecified code. CONCLUSIONS: On average, EA affected 1 in 4099 births (95% CI, 1 in 3954-4251 births) with prevalence varying across different geographical settings, but relatively consistent over time and comparable between surveillance programs. Findings suggest that differences in the prevalence observed among programs are likely to be attributable to variability in population ethnic compositions or issues in reporting or registration procedures of EA, rather than a real risk occurrence difference. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc.Birth Defects Research Part A Clinical and Molecular Teratology 11/2012; 94(11). DOI:10.1002/bdra.23067 · 2.21 Impact Factor
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- "Of these, rodents have been most commonly employed (reviewed HPE is now recognized to be the most prevalent human birth defect occurring in as many as 1/250 conceptuses (Matsunaga & Shiota 1977). With most HPE-affected conceptuses being lost prior to birth, this condition is reported in approximately 1/10,000 live births (Croen et al., 1996; Leoncini et al., 2008; Shiota et al., 2007). HPE is known to result from a variety of genetic abnormalities, as well as several different environmental factors. "
ABSTRACT: Magnetic resonance imaging (MRI) techniques, such as magnetic resonance microscopy (MRM), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy (MRS), have recently been applied to the study of both normal and abnormal structure and neurochemistry in small animals. Herein, findings from studies in which these methods have been used for the examination of animal models of Fetal Alcohol Spectrum Disorder (FASD) are discussed. Emphasis is placed on results of imaging studies in fetal and postnatal mice that have highlighted the developmental stage dependency of prenatal ethanol exposure-induced CNS defects. Consideration is also given to the promise of methodological advances to allow in vivo studies of aberrant brain and behavior relationships in model animals and to the translational nature of this work.Neuropsychology Review 03/2011; 21(2):167-85. DOI:10.1007/s11065-011-9164-z · 5.40 Impact Factor
- "During early embryonic period, the frequency is 1 at 250 but progressively declines because of high fetal mortality rates   . "
Article: Holoprosencephaly sequence.[Show abstract] [Hide abstract]
ABSTRACT: Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain into distinct lateral cerebral hemisphere. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. A subtype of HPE called middle inter-hemispheric variant (MIHF) has been also reported. The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period. The disorder is estimated to occur in 1/16,000 live births. This case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 01/2011; 52(2):725-8. · 0.72 Impact Factor