ACTUALIZACIÓN MÉDICO-CONTINUADA EN DEFECTOS DE NACIMIENTO ► Genomics|Features|Birth Defects [idioma inglés únicamente]

Genomics|Features|Birth Defects

Birth Defects

Folic Acid: Birth Defects and Genomics - August 4, 2015

CDC Info

• Challenges in studying modifiable risk factors for birth defects.Tinker SC et al. Curr Epidemiol Rep 2015 Mar 2(1) 23-30
• Optimal blood folate concentrations for the prevention of neural tube defects
• Birth Defects COUNT
• Did You Know? on World Birth Defects Day
• Racial and ethnic differences in the occurrence of major birth defects
• CDC birth defects research and tracking

Challenges in studying modifiable risk factors for birth defects.
Tinker SC et al. Curr Epidemiol Rep 2015 Mar 2(1) 23-30

Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician.
Alwan S et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25.

WHO Guideline: Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects, April 2015

CDC information: Optimal blood folate concentrations for the prevention of neural tube defects, WHO Guideline At-A-Glance

Primary prevention of congenital anomalies: recommendable, feasible and achievable.
Taruscio D et al. Public Health Genomics 2015 (3) 184-91

Considering maternal dietary modulators for epigenetic regulation and programming of the fetal epigenome.
Chango A et al. Nutrients 2015 (4) 2748-2770

Folic acid supplementation in pregnancy and implications in health and disease.
Barua S et al. J. Biomed. Sci. 2014 77

World Birth Defects Day - March 3, 2015

CDC Feature introducing the inaugural World Birth Defects Day and highlighting CDC’s global activities in birth defects

CDC information: Center for Global Health's Global Voices blog, "March 3 marks the First Annual World Birth Defects Day"

HHS.gov blog on World Birth Defects Day

CDC information: Did You Know? on World Birth Defects Day

Announcement: World Birth Defects Day - March 3, 2015 
MMWR February 27, 2015 / 64(07);196-196

International Clearinghouse for Birth Defects Surveillance and Research 

Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Geller Frank et al. Nat. Genet. 2014 Sep (9) 957-63

Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring.
Fu Yunting et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2014 Nov 5.

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Wijers Charlotte H W et al. Birth Defects Res. C Embryo Today 2014 Dec (4) 382-400

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.
Rochtus Anne et al. Epigenetics 2015 Jan 7. 1-10

Maternal obesity and tobacco use modify the impact of genetic variants on the occurrence of conotruncal heart defects.
Tang Xinyu et al. PLoS ONE 2014 (9) e108903

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner Joseph T et al. Circ. Res. 2014 Oct 24. (10) 884-96

Gene-gene interaction among WNT genes for oral cleft in trios.
Li Qing et al. Genet. Epidemiol. 2015 Feb 6.

Birth Defects: Research on Causes and Prevention - January 20, 2015

National Birth Defects Prevention Month and Folic Acid Awareness Week — January 2015
MMWR Morb Mortal Wkly Rep 2015;64:1

Birth defects are common, costly, and critical, National Birth Defects Prevention Network

CDC key findings: Racial and ethnic differences in the occurrence of major birth defects

CDC birth defects research and tracking

CDC article: Supplement use and other characteristics among pregnant women with a previous pregnancy affected by a neural tube defect — United States, 1997–2009
MMWR,  January 16, 2015 / 64(01);6-9

CDC updated estimates of neural tube defects prevented by mandatory folic acid fortification — United States, 1995–2011
Jennifer Williams, et al. MMWR Morb Mortal Wkly Rep 2015;64:1-5

Birth Defects: What have we learned? By Coleen Boyle, March of Dimes, Jan 14

Birth Defects Prevention: Research on Causes and Prevention - January 13, 2015

CDC Grand Rounds: Understanding the causes of major birth defects: Steps to prevention  January 20, 2015 at 1pm EST.

Birth defects are common, costly, and critical, National Birth Defects Prevention Network

CDC Key Findings: Racial and ethnic differences in the occurrence of major birth defects

CDC Birth Defects Research and Tracking

Birth Defects Prevention: Folic Acid and Genomics - January 8, 2015

CDC information: Folic acid & birth defects

Recognizing young children living with birth defects, by Dr Coleen Boyle, Director, CDC National Center on Birth Defects and Developmental Disabilities, HHS Blog Post, Jan 5, 2015

Recent Genomic and Folic Acid Articles

Association of MTHFR A1298C polymorphism with conotruncal heart disease.
Sayin Kocakap BD et al. Cardiol Young. 2014 Dec 30:1-6.

Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring.
Fu Y et al.  Birth Defects Res A Clin Mol Teratol. 2014 Nov 5.

Did you know that folic acid-genetic interactions are important for a wide variety of human diseases including birth defects? To find out more, check out the HuGE Navigator

Birth Defects & Disabilities Across the Lifespan - July 24, 2014

Annual Report of the CDC National Center on Birth Defects and Developmental Disabilities- Promoting the health of babies, children and adults throughout the lifespan  [PDF 927.97 KB]

CDC information: Birth defects, prematurity and SIDS are top causes of infant mortality and have genetic and environmental factors associated with them

CDC information: Genetics and infant health: What should you know about pediatric genetics?

CDC podcast: Integrating genomics into pediatric primary care: a public health perspective