Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014

Liu, Jufen; Zhang, Le; Li, Zhiwen; Jin, Lei; Zhang, Yali; Ye, Rongwei; Liu, Jianmeng; Ren, Aiguo

doi:10.1002/bdra.23486

Cited by 86 publications

(80 citation statements)

References 22 publications

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“…The subjects were recruited from five rural counties (Xiyang, Shouyang, Taigu, Pingding, and Zezhou) of Shanxi Province in northern China, utilizing a population-based birth defect surveillance program, which has been previously described elsewhere [30]. Birthing hospitals report to the system newborns with major external structural birth defects or fetuses that are terminated due to prenatal diagnosis of such defects.…”

Section: Methodsmentioning

confidence: 99%

Digenic variants of planar cell polarity genes in human neural tube defect patients

Wang

Xiao

Tian

et al. 2018

Molecular Genetics and Metabolism

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Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. These candidate genes were PCP genes, including VANGL1, VANGL2, CELSR1, SCRIB, DVL2, DVL3 and PTK7. Candidate variants were validated using Sanger sequencing. A total of 397 single nucleotide variants(SNVs) were identified with a mean depth of approximately 570×. Of these identified SNVs, 74 were predicted to affect protein function and had a minor allele frequency of < 0.01 or unknown. Among these 74 missense SNVs, 10 were identified from six NTD cases that carried two mutated genes. Of the six NTD cases, three spina bifida cases and one anencephaly case carried digenic variants in the CELSR1 and SCRIB gene; one anencephaly case carried variants in the CELSR1 and DVL3 gene; and one spina bifida case carried variants in the PTK7 and SCRIB genes. Three cases that parental samples were available were confirmed to be compound heterozygous. None of the digenic variants were found in the 1000 genome database. The findings imply that genetic variation might interact in a digenic fashion to generate the visible NTD phenotypes and emphasize the importance of these genetic interactions in the development of NTDs in humans.

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Section: Methodsmentioning

confidence: 99%

Digenic variants of planar cell polarity genes in human neural tube defect patients

Wang

Xiao

Tian

et al. 2018

Molecular Genetics and Metabolism

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“…By contrast, from 2003 to 2009, the prevalence was 0.3 per 10,000 live births in Beijing [9]. Although a recent study conducted by Liu and colleagues [10] showed that the prevalence of NTDs presented a continuous decreasing trend and was 31.5 per 10,000 live births in 2014 in the Shanxi Province of China. However, data reflecting the status of NTDs in China during the last decade have been quite limited for other areas.…”

Section: Introductionmentioning

confidence: 99%

Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study

Zhang

Gong

Chen³

et al. 2017

Oncotarget

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To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015. All analyses were conducted using SPSS software. During the observational period, the prevalence of neural tube defects, anencephaly, spina bifida, encephalocele, and congenital hydrocephalus was 19.1, 4.9, 6.2, 1.2, and 9.3 per 10,000 live births, respectively. Significantly decreasing trends were observed in the prevalence of all these malformations except for encephalocele. Notably, relatively higher prevalence rates were found in isolated compared with non-isolated malformations, with significant differences in selected characteristics (e.g., prognosis status, gestational age, and birth weight) between isolated and non-isolated cases of these malformations. The prevalence of neural tube defects showed a downward trend in Liaoning Province from 2006 to 2015. However, more attention should be focused on non-isolated cases in the future because of the severe clinical manifestations. Future prevention efforts should be strengthened to reduce the risk of these malformations, especially the non-isolated subtype, in areas with high prevalence.

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“…The whole continent consists of 48 countries, as shown in Table 1 . The dropping prevalence of live-born MMC was also 164 observed in the recently published cohort from China [9] . This trend was attributed to a wider adoption of periconceptional supplementation of folic acid, earlier antenatal diagnosis, and termination of affected pregnancies [10] .…”

Section: Actual Impact Of MMC In Asiamentioning

confidence: 56%

“…This trend was attributed to a wider adoption of periconceptional supplementation of folic acid, earlier antenatal diagnosis, and termination of affected pregnancies [10] . Most of the spina bifida cases are now from the rural area [9] . Asia is more diverse than North America or Europe, since it includes some of the world's least developed as well as highly developed countries.…”

Section: Actual Impact Of MMC In Asiamentioning

confidence: 99%

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Establishing Prenatal Surgery for Myelomeningocele in Asia: The Singapore Consensus

et al. 2017

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Objectives: The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia. Material and Methods: A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session. The practice suggestions in this statement were from a targeted literature review and expert opinion. Results: A high prevalence of MMC in Asia supports an effort to adopt the procedure, but only in established FTCs with good maternal and neonatal ancillary supports. The falling incidence of MMCs may affect case volume and maintenance of skill. A regional approach was recommended. Fetal benefits have to be weighed against maternal risks, with a consideration of recent outcome data from the endoscopic approach. Responsible FTCs need standardized diagnosis and management, with their long-term outcome data available for an audit. Conclusions: It is envisaged that the information presented by this multidisciplinary team would be useful for FTCs in Asia or elsewhere that plan to establish more advanced fetal care in the future.

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Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014

Abstract: The prevalence of NTDs remains high despite a substantial and continuous decrease over the past 15 years. To further reduce NTD risk in the population, fortification staples with folic acid should be considered.

Cited by 86 publications

References 22 publications

Digenic variants of planar cell polarity genes in human neural tube defect patients

Digenic variants of planar cell polarity genes in human neural tube defect patients

Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study

Establishing Prenatal Surgery for Myelomeningocele in Asia: The Singapore Consensus

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