Spina Bifida
What's New
Last Posted: May 16, 2024
- A national postgraduate nurse practitioner and physician assistant fellowship in cystic fibrosis: An innovative approach to the provider shortage in complex and rare disease.
Cynthia J Brady et al. J Am Assoc Nurse Pract 2024 - Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785 - The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59 - Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz et al, Genetics in Medicine, March 8, 2021 - World Birth Defects Day, March 3, 2021
CDC, March 2021 - Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov - Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Kiani Aysha Karim et al. Acta bio-medica : Atenei Parmensis 2020 Nov 91(13-S) e2020021 - Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Real Stories: Living with Spina Bifida
CDC, 2019 - Study reveals elevated cancer risk in children with birth defects,
EurekAlert, June 25, 2019 - An Adaptive Mobile Health System to Support Self-Management for Persons With Chronic Conditions and Disabilities: Usability and Feasibility Studies.
Setiawan I Made Agus et al. JMIR formative research 2019 Apr 3(2) e12982 - Basics to Fundamentals on Spina Bifida: Resources for the Practicing Primary Care Clinician
April 16, 2019, 1:00 pm EST ~ American Academy of Pediatrics Webinar - Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.
Groisman Boris et al. Birth defects research 2019 Feb - Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?
Rochtus Anne et al. Mini reviews in medicinal chemistry 2015 (13) 1095-102 - Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Prasoona Kattekola R et al. Developmental medicine and child neurology 2015 Sep - Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Mazumdar Maitreyi et al. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep (9) 754-62 - DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.
Shangguan Shaofang et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jan (1) 37-44 - Neural tube defects.
Greene Nicholas D E et al. Annu. Rev. Neurosci. 2014 221-42 - Spina bifida
Nature Reviews Disease Primers, April 30, 2015 - The outcome and course of pregnancies complicated with fetal neural tube defects.
Steric M et al. Clin Exp Obstet Gynecol 2015 (1) 57-61
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About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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