Nationwide epidemiological survey of holoprosencephaly in Japan
- 30 December 2019
- journal article
- research article
- Published by Wiley in Pediatrics International
- Vol. 62 (5), 593-599
- https://doi.org/10.1111/ped.14135
Abstract
Background Holoprosencephaly (HPE) is a congenital malformation with an estimated prevalence of 0.10–6.06 per 10,000 births, but with no nationwide data specific to Japan. Methods This nationwide retrospective questionnaire survey was conducted from 2011 to 2013. All 467 training hospitals for perinatal and neonatal care certified by the Japan Society of Perinatal and Neonatal Medicine were contacted. The birth prevalence rate (BPR) was assessed from the primary survey and clinical characteristics from the secondary survey. Results We received valid responses from 253 hospitals in the primary survey (54.6%). Of 390,342 live births, 60 were diagnosed with HPE (23 males and 37 females), resulting in an actual BPR of 1.54 per 10,000 live births. The point estimate for HPE cases was 100 (95% confidential interval [CI]: 80.7–120), and the estimated BPR of HPE was calculated to be 0.32 per 10,000 live births (95% CI: 0.26–0.38) based on 3,117,853 live births according to the Japanese national statistics during the study period. In the secondary survey, we obtained data for 49 cases (19 males and 30 females). Of these, 20 were alobar (40.8%), 20 were semilobar (40.8%), 5 were lobar (10.4%), and 4 were of unknown types. Genetic examination was performed in 37 of the 49 HPE patients and revealed that chromosomes 13, 18, and 7 were affected in 8, 6, and 4 patients, respectively. Conclusion This is the most extensive survey on holoprosencephaly to date in Japan. The estimated BPR was consistent with that reported in previous research.Keywords
This publication has 29 references indexed in Scilit:
- Holoprosencephaly in HungaryJournal of Child Neurology, 2011
- Epidemiology of holoprosencephaly: Prevalence and risk factorsSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2010
- Holoprosencephaly due to numeric chromosome abnormalitiesSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2010
- Prenatal Diagnosis of Triploidy Associated with Holoprosencephaly: A Case Report and Review of the LiteratureAmerican Journal of Perinatology, 2009
- Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate lociHuman Mutation, 2009
- Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlationsHuman Mutation, 2004
- Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York state, 1984–1989American Journal of Medical Genetics, 1997
- Mutations in the human Sonic Hedgehog gene cause holoprosencephalyNature Genetics, 1996
- Holoprosencephaly in the west of Scotland 1975-1994.Journal of Medical Genetics, 1996
- The cyclops and the mermaid: an epidemiological study of two types of rare malformation.Journal of Medical Genetics, 1992