Research shows that taking folic acid before you get pregnant may help prevent birth defects including serious neural tube defects such as spina bifida, encephalocele (rarely), and anencephaly. All pregnant women should take at least 400 micrograms (mcg)Trusted Source of folic acid daily. Many pre-natal vitamins contain 600 mcg of folic acid.
4mg / day ( 0.4 to 4 mg daily depending upon serum college concentration to prevent NTD ) Starts one month before conception and 2 months after conception .
Yes doses of folic acid are 4mg one month before conception but since market preparations are minimum 5mg hence acceptable 5mg per day
The first trimester, up to 12 weeks, the disease - 400 mcg daily and. T.5 b.5 mg OD. Should be taken 3 months in advance if possible.
women, from the moment they begin trying to conceive until 12 weeks of gestation should take 400ug folic acid supplement daily
4 mg / 400mcg is recommended dose 5 mg is available in market If possible should be taken 3 months prior to conception
400mug/day of folic acid 1-3months before continuing through the 1st month of pregnancy to neural tube defect
400mcg daily before pregnancy 600 mcg daily during pregnancy Available as folate form 5 mg tablets 1 od
Time : first trimester up to 12 week Dose : 400 MCG daily Or Tab colic acid 5 mg od
SUGGESTIVE OF 5, mgm
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what could be thecongenital anomalies this baby? expert opinionDr. Silambarasan S3 Likes15 Answers
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21 year old primigravida presented in casualty in labor, 9 months amenorrhea (not sure of dates), no antenatal visits. Baby born by vaginal delivery. Pictures are attached. Identify the conditions and what could be the causes?Dr. Kanika Kalra7 Likes72 Answers
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RARE BIRTH DEFECTS: A birth defect is a health condition that is present at birth. Birth defects may change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or how the body works. One in 33 babies in the United States is born with a birth defect. We don’t know the cause of all birth defects. Some may be caused by the genes we inherit from our parents. Others may be caused by environmental factors, like exposure to harmful chemicals. Some may be caused by a combination of genes and environment. In most cases, the causes are unknown. What are rare birth defects? There are thousands of different birth defects. The most common are heart defects, cleft lip and palate, Down syndrome and spina bifida. Others, such as the ones listed below, are rare and less well known. Use the links to find out more information about these birth defects. Or visit the Office of Rare Disease Research or Genetics Home Reference. Rare birth defects include: 22q11.2 deletion syndrome (DiGeorge Syndrome and Velocardiofacial syndrome)Albinism, ocularAlbinism, oculocutaneousAnencephaly (a neural tube defect)Arnold-Chiari malformation (chiari malformation)CHARGE syndromeCongenital adrenal hyperplasiaCongenital diaphragmatic hernia (CDH)Congenital hydrocephalusCraniosynostosisDandy Walker malformationEhlers Danlos syndromeEpidermolysis bullosaGorham's diseaseHashimoto's syndrome (autoimmune thyroiditis)Hydrops fetalis (immune and nonimmune)HypotoniaKlippel-Feil syndromeMuscular dystrophyOsteogenesis imperfectaProgeriaSmith Lemli Opitz syndromeSpinal muscular atrophyTuberous sclerosisTurner syndromeX-linked lymphoproliferative syndrome (Duncan disease)Dr. Vasundhara Nanavaty11 Likes16 Answers
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DAILY FOLIC ACID SUPPLEMENTATION REMAINS IMPORTANT FOR PREVENTION OF BIRTH DEFECTS. January 10, 2017. Despite the mandatory addition of folic acid to enriched grain products in the UNITED STATES, many women still do not consume adequate amounts of this important vitamin, according to an editorial written by Laura E. Mitchell, Ph.D., professor in the Department of Epidemiology, Human Genetics and Environmental Sciences at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health. Mitchell was invited to write the editorial for JAMA Pediatrics, which published it today during FOLIC ACID AWARENESS WEEK AND JANUARY'S BIRTH DEFECTS PREVENTION MONTH. The editorial ran in conjunction with a new report from the U.S. Preventive Services Task Force (USPSTF), which was also published today in JAMA, the Journal of the American Medical Association. WHEN TAKEN PRIOR TO AND DURING EARLY PREGNANCY, FOLIC ACID IS KNOWN TO REDUCE THE RISK OF HAVING A CHILD AFFECTED WITH A NEURAL TUBE DEFECT. NEURAL TUBE DEFECTS INCLUDE ANENCEPHALY, a condition in which a baby is born without parts of the brain and skull, and SPINA BIFIDA, which occurs when the spinal cord and the bones surrounding the spine do not form properly. IN THE UNITED STATES, APPROXIMATELY 1,200 PREGNANCIES ARE AFFECTED BY ANENCEPHALY AND 1,500 BABIES ARE BORN WITH SPINA BIFIDA EACH YEAR, ACCORDING TO the Centers for Disease Control and Prevention (CDC). WOMEN who are PLANNING or capable of PREGNANCY SHOULD TAKE a DAILY supplement containing 0.4 to 0.8 mg (400 to 800 μg) OF FOLIC ACID TO REDUCE THEIR RISK OF HAVING A PREGNANCY AFFECTED BY A NEURAL TUBE DEFECT, according to the USPSTF recommendation, which was first issued in 2009. "SINCE NEURAL TUBE DEFECTS OCCUR IN THE FIRST FEW WEEKS OF PREGNANCY, IT IS IMPORTANT FOR WOMEN TO BE TAKING THE RECOMMENDED AMOUNT OF FOLIC ACID BEFORE THEY BECOME PREGNANT. BECAUSE APPROXIMATELY ONE-HALF OF PREGNANCIES IN THE UNITED STATES ARE UNPLANNED, THE USPSTF RECOMMENDATION HOLDS FOR ALL REPRODUCTIVE-AGE WOMEN, WHETHER OR NOT THEY ARE PLANNING A PREGNANCY, SO THAT ALL PREGNANCIES BENEFIT FROM THIS PREVENTIVE MEASURE," Mitchell said. Although the USPSTF recommendation on folic acid supplementation has not changed since the task force's prior report in 2009, the current report considered new evidence obtained after MANDATORY FOLIC ACID FORTIFICATION OF THE COUNTRY'S FOOD SUPPLY. The United States Food and Drug Administration (FDA) MANDATED FOLIC ACID FORTIFICATION OF GRAIN PRODUCTS, such as ENRICHED FLOUR AND BREAD, IN JANUARY 1998. HOWEVER, data from the National Health and Nutrition Examination Survey indicate that EVEN WITH FORTIFICATION, NEARLY A QUARTER OF ALL REPRODUCTIVE-AGE WOMEN HAVE FOLATE LEVELS THAT ARE SUB-OPTIMAL TO PREVENT NEURAL TUBE DEFECTS. Further, women who do not take folic acid supplements are approximately three times more likely to have sub-optimal folate levels compared to women who take supplements. "Even in the era of mandatory folic acid fortification of the food supply, taking a daily supplement remains a critical strategy for women to make sure they are receiving enough folic acid," Mitchell said. Although the USPSTF's recommendation about folic acid supplementation has been in place since 2009, the proportion of women who follow the recommendations remains low. Even among women with intended pregnancies, fewer than half take a daily folic acid supplement prior to pregnancy. To help reduce the proportion of women with an inadequate intake of folic acid, the FDA ANNOUNCED IN 2016 THAT THEY WOULD ALLOW FOLIC ACID FORTIFICATION OF CORN MASA FLOUR, which is used in foods such as tortillas, tacos, tortilla chips and tamales. The addition of folic acid to corn masa flour SPECIFICALLY TARGETS HISPANIC WOMEN since they have a higher risk of neural tube defects than non-Hispanic women, tend to have lower blood folate levels and consume fewer of the traditionally fortified foods. In the editorial, Mitchell suggests that the current popularity of wearable devices and smartphone-based self-trackers may provide opportunities to develop and disseminate messages aimed at further increasing the proportion of women who follow the USPSTF folic acid recommendation. She also supports the National Preconception Health and Healthcare Initiative, a new public-private campaign to promote preconception health, which she believes has the potential to drive broad system changes that will help increase awareness of and receptiveness to health information, including the USPSTF recommendation on folic acid supplements. ---------------------------------------+-------------------------------------- MORE INFORMATION: JAMA, DOI: 10.1001/jama.2016.19438 Provided by: University of Texas Health Science Center at Houston. _______________________________________ Credit: CC0 Public Domain.Dr. Puranjoy Saha11 Likes6 Answers
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INTERFERON REGULATORY FACTOR SIX MUTATIONS IMPLICATED IN NEURAL TUBE DEFECTS, INCLUDING SPINA BIFIDA. January 25, 2019. MUTATIONS IN A GENE known as INTERFERON REGULATORY FACTOR 6 (IRF6) that CAUSE CLEFT LIP AND PALATE ALSO are IMPLICATED IN NEURAL TUBE DEFECTS such as SPINA BIFIDA, suggests research by an international study team PUBLISHED online Jan. 25, 2019, IN Human Molecular Genetics. In the FIRST WEEKS OF FETAL DEVELOPMENT the NEURAL PLATE CURVES, CREATING a NEURAL TUBE that, ONCE FUSED SHUT, BECOMES the FETAL BRAIN AND fetal SPINAL CORD. NEURAL TUBE DEFECTS, which can range from MILD TO SEVERE, are CHARACTERIZED BY INCOMPLETE DEVELOPMENT OF the BRAIN, SPINAL CORD or MENINGES. These defects can potentially RESULT IN PARALYSIS OR even FETAL OR NEONATAL DEMISE. According to the National Institutes of Health, SPINA BIFIDA, which affects the spinal cord, IS THE MOST COMMON NEURAL TUBE DEFECT IN the U.S., AFFECTING UP TO 2,000 INFANTS EACH YEAR. "DESPITE its HIGH FREQUENCY, SPINA BIFIDA REMAINS among the LEAST UNDERSTOOD STRUCTURAL BIRTH DEFECTS," says Brian C. Schutte, an associate professor of Microbiology and Molecular Genetics, Pediatrics and Human Development at Michigan State University and the study's senior author. "There is STRONG EVIDENCE THAT GENETIC FACTORS ARE A LEADING CAUSE OF SUCH STRUCTURAL BIRTH DEFECTS, BUT IN MOST CASES, THE CAUSE IS UNKNOWN. Our team's study is the FIRST PUBLISHED RESEARCH TO DEMONSTRATE THAT DNA VARIANTS IN THE GENE IRF6 CAN CAUSE SPINA BIFIDA," Schutte says. What's more, the RESEARCH TEAM IDENTIFIED a MECHANISM to explain how altering IRF6 leads to neural tube defects. This mechanism LINKS IRF6 FUNCTION TO TWO OTHER GENES —known as transcription Factor AP2A (TFAP2A) and Grainyhead Like 3 (GRHL3)—THAT ARE also known to be REQUIRED FOR the DEVELOPMENT OF THE NEURAL TUBE, LIP AND PALATE. "We're all on the hunt for the reasons when, how and why birth defects happen," adds Youssef A. Kousa, MS, D.O., Ph.D., a clinical fellow in the Division of Child Neurology at Children's National Health System and the study's lead author. "Our MAIN GOAL IS PREVENTION. THIS PAPER IS A SIGNIFICANT DEVELOPMENT BECAUSE our TEAM has IDENTIFIED A GROUP OF GENES THAT can potentially CONTRIBUTE to very common types of BIRTH DEFECTS: CRANIOFACIAL AS WELL AS NEURAL TUBE DEFECTS." Mutations in a gene known as interferon regulatory factor 6 that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida, suggests research by an international study team published online Jan. 25, 2019, in Human Molecular Genetics. Credit: Children's National Health System THE SCIENTIFIC ODYSSEY IS A WONDERFUL EXAMPLE OF SERENDIPITY. Kousa, then working in Schutte's lab, was studying the effects of a new mutant experimental model strain on development of the palate. But one day, he walked into Schutte's office holding a deformed preclinical embryo and said: "Brian, look at this!" "WEIRD THINGS HAPPEN IN BIOLOGY," Schutte replied and counseled him to return if it happened again. Less than two weeks later, Kousa was back with several more of the deformed preclinical embryos, saying: "OK, Brian. It happened again." Within hours Kousa had unearthed recently published research that included an image of a similarly affected preclinical embryo. The pair then SKETCHED OUT POSSIBLE INTERSECTING GENETIC PATHWAYS, as they brainstormed the myriad ways to END UP WITH that SPECIFIC PHENOTYPE. Initially, they TESTED THEIR HYPOTHESES in experimental models and eventually CORROBORATED FINDINGS through human genetic studies. The human studies could only be performed by collaborations. Schutte SHARED their INITIAL OBSERVATIONS with human genetics researchers scattered ACROSS THE COUNTRY. Those LABS then generously AGREED to test whether DNA variants in IRF6 were associated with neural tube defects in SAMPLES from patients that they had COLLECTED OVER DECADES of research. The TEAM FOUND that Tfap2a, Irf6 and Grhl3 are COMPONENTS OF A GENE regulatory network REQUIRED FOR NEURULATION, a folding process THAT RESULTS IN the neural tube BENDING AND then FUSING to become the basis of the embryo's nervous system, from brain to spinal cord. "Since this network is also required for formation of the lip, palate, limbs and epidermis, which develop at different times and places during embryogenesis, we suggest that the Tfap2a-Irf6-Grhl3 network is a FUNDAMENTAL PATHWAY for multiple morphogenetic processes," the researchers write. Interferon regulatory FACTOR 6 FUNCTIONS BEST WHEN there is NEITHER TOO MUCH EXPRESSION NOR TOO LITTLE. OVEREXPRESSION of Irf6 suppresses Transcription Factor Activation Protein 2A and Grainyhead Like 3, CAUSING EXENCEPHALY, a neural tube defect characterized by the brain being located outside of the skull. Counterintuitively, experimental models that had too little Irf6 also ended up with reduced levels of Tfap2a and Grhl3 that led to a structural birth defect, but at the opposite end of the neural tube. To test whether the experimental model findings held true in humans, they SEQUENCED SAMPLES FROM PEOPLE WHO HAD SPINA BIFIDA AND ANENCEPHALY —the rare birth defect that Kousa spotted in the experimental models—and found IRF6 function was conserved in people. Because of the GENETIC COMPLEXITY of these birth defects, and the challenges inherent in collecting samples from cases of severe birth defects, many research teams were invited to participate in the study. As testament to their collegiality, researchers from Stanford University, University of Texas at Austin, University of Iowa, University of Texas at Houston and Duke University agreed to share precious samples from the California Birth Defects Monitoring Program, from the Hereditary Basis of Neural Tube Defects study and from their own institutional sample collections. "As we get better at personalized medicine, we could USE THIS INFORMATION to one day help TO COUNSEL FAMILIES ABOUT their own RISK AND PROTECTIVE FACTORS," Kousa adds. "If we can identify the genetic pathway, we MIGHT also BE ABLE TO MODIFY IT TO PREVENT A BIRTH DEFECT. FOR EXAMPLE, PRENATAL SUPPLEMENTATION WITH FOLIC ACID HAS LED TO A DECREASE IN BABIES BORN WITH NEURAL TUBE DEFECTS, BUT NOT ALL NEURAL TUBE DEFECTS ARE SENSITIVE TO FOLIC ACID. THIS KNOWLEDGE WILL HELP US DEVELOP INDIVIDUAL-BASED INTERVENTIONS." $$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$ MORE INFORMATION : Human Molecular Genetics (2019). DOI: 10.1093/hmg/ddz010 PROVIDED BY : Children's National Medical Center. ________________________________ IMAGE : 1 MUTATIONS IN a GENE known as interferon regulatory factor 6 that CAUSE CLEFT LIP AND PALATE also are implicated in NEURAL TUBE DEFECTS such as SPINA BIFIDA, suggests research by an international study team published online Jan. 25, 2019, in Human Molecular Genetics. CREDIT : Children's National Health System. ----------------------------------------------------------- IMAGE : 2 Mutations in a gene known as interferon regulatory factor 6 that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida, suggests research by an international study team published online Jan. 25, 2019, in Human Molecular Genetics. CREDIT : Children's National Health System. ----------------------------------------------------------- IMAGE : 3 Youssef A. Kousa, MS, D.O., Ph.D., A clinical fellow in the Division of Child Neurology at Children's National Health System and the study's lead author. CREDIT : Children's National Health System. ***************************×**************************Dr. Puranjoy Saha2 Likes5 Answers