Materiały źródłowe

• #1 Spina bifida – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860

  Spina bifida occurs in different types: spina bifida occulta, myelomeningocele (my-uh-lo-muh-NING-go-seel) or the very rare type, meningocele (muh-NING-go-seel). […] The cause of spina bifida is not known. It’s thought that a combination of genetic, nutritional and environmental risk factors causes the condition. This includes having a family history of neural tube defects and getting too little folate, also known as vitamin B-9, during pregnancy. […] Having one child with a condition that affects the neural tube slightly increases the chance of having another baby with the same condition. The risk increases even more if two previous children have been affected by the condition. […] Taking anti-seizure medicines such as valproic acid during pregnancy increases the risk of having a baby with spina bifida. This might happen because the medicines interfere with the body’s ability to use folate and folic acid.

• #1 Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

  https://www.mdpi.com/2221-3759/10/2/22

  Spina bifida (SB) is the most common congenital defect of the central nervous system. […] An intricate relationship between environmental, genetic, and maternal factors has been implicated in the etiology and pathogenesis of this congenital malformation. […] Currently, the genetic component is thought to contribute to approximately 60–70% of the risk of NTDs and, as such, the identification of additional genetic loci in humans is an ongoing area of study. […] There exist two proposed mechanisms for NTDs. First, the neural tube fails to close due to abnormalities in cellular behavior (inefficient proliferation, disorganized cellular death, and poor collective cell movement). Second, the closed neural tube reopens, possibly due to a breakdown in critical cell–cell adhesion junctions. […] Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.

• #1 Is Spina Bifida Genetic?

  https://www.healthline.com/health/is-spina-bifida-genetic

  Spina bifida is a developmental issue for a fetus marked by spinal cord and vertebrae structural changes. While environmental factors can cause this condition, genetics may also play a role. […] Experts dont know the exact cause of spinal bifida. But they do know that different environmental and genetic factors may increase the risks of having this condition. […] Genetics may play a role in a persons risk of spinal bifida. That said, there isnt just one gene that may be involved. […] More than 240 different genetic mutations linked to spina bifida in studies on mice. In humans, spina bifida linked to autosomal dominant inheritance of the following genes: VANGL1, VANGL2, FUZ, CELSR1, TBXT. […] MTHFR is yet another gene that may link to spina bifida. In particular, people with mutations in MTHFR may have difficulty metabolizing folate, which is an important vitamin that protects against neural tube defects. […] Despite identifying specific genes linked to spinal bifida, researchers believe spinal bifida may result from various genetic mutations and environmental factors.

• #1 Spina Bifida – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559265/

  Spinal dysraphisms are due to incomplete closure of the posterior spinal elements and typically occur between 17 and 30 days of fetal development. […] Defects in neural tube development are thought to be multifactorial, including environmental and genetic influences. The most common environmental cause is folate deficiency, with most cases deemed folic acid-sensitive. […] Other environmental risk factors include maternal obesity, maternal diabetes, and teratogens, eg, valproic acid. Valproic acid has the highest association with the development of neural tube defects (NTDs), carrying about a 10-fold increase in risk. […] Some genetic factors have also been correlated with poor neuralization, including several chromosomal syndromes and genetic polymorphism. Research has implicated polymorphism of the gene encoding the MTHFR enzyme, which is involved in folate metabolism, as a likely genetic risk factor.

• #1 New Insights Into the Causes of Spina Bifida | Cell And Molecular Biology

  https://www.labroots.com/trending/cell-and-molecular-biology/28807/insights-causes-spina-bifida?srsltid=AfmBOopGaIk-F07l9Gcpi4rueXHMkOqESyiqLcreTk7SIjs-GgaPMK4e

  When the spine or spinal cord do not form properly during human development, a disorder called spina bifida, or meningomyelocele arises. […] The exact causes of spina bifida are unclear, but it is one of a group of disorders known as neural tube defects. […] Genetics, environmental factors, and dietary factors can all play a role in the development of the condition. Folate deficiency is a known risk factor, and doctors recommend that pregnant women or those preparing for pregnancy should take a folic acid supplement. […] This latest study has suggested that so-called de novo genetic mutations, which arise in the fetus but are not carried by either parent, may be one cause of spina bifida. […] This analysis indicated that de novo mutations are a significant contributor to spina bifida risk.

• #1 Spina bifida can be caused by uninherited genetic mutations | UCL News – UCL – University College London

  https://www.ucl.ac.uk/news/2021/feb/spina-bifida-can-be-caused-uninherited-genetic-mutations

  The discovery that mosaic mutations, which cause spina bifida, may not be inherited from either parent, and are not necessarily present in blood or saliva commonly used for genetic testing, may explain why. […] Researchers found that when the mutated Vangl2 gene was present in just 16% of developing spinal cord cells, spina bifida occurred. […] They say, these results show that the cellular signalling process is surprisingly vulnerable to the uninheritable mosaic mutations.

• #1 Spina Bifida | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/spina-bifida

  The cause of spina bifida remains unknown. It is associated with genetic, nutritional, and environmental factors. Research studies indicate that a key factor may be a lack of folic acid a common B vitamin in a pregnant womans diet. This is one reason why a daily multi-vitamin that contains folic acid is recommended for all women of child-bearing age. […] More than 90 percent of cases occur without a prior family history. However, if one parent has spina bifida, theres a one in 25 (4 percent) chance of passing spina bifida to your baby. If you already have a child with spina bifida, theres a one in 25 (4 percent) chance of having another baby with the condition. If a previous child or family member has a neural tube defect, speak with your doctor about taking a daily folic acid supplement.

• #1 Spina bifida causes, symptoms and treatment | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/spina-bifida

  Myelomeningocele has genetic and micronutrient causes. Mothers who have had a baby with spina bifida have up to a 4 percent risk of recurrence in subsequent pregnancies. […] Continuous bathing of the fragile developing spinal cord in amniotic fluid over the course of gestation is thought to result in progressive neurologic injury. […] Experts at Childrens Hospital of Philadelphia (CHOP) co-led the landmark Management of Myelomeningocele Study (MOMS), which compared outcomes after open prenatal and postnatal repair of myelomeningocele. Results demonstrated that prenatal repair can offer significantly better results than traditional postnatal repair.

• #1 Spina Bifida: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/311113-overview

  The etiology in most cases of myelomeningocele is multifactorial, involving genetic, racial, and environmental factors, in which nutrition, particularly folic acid intake, is key. Cytoplasmic factors, polygenic inheritance, chromosomal aberrations, and environmental influences (eg, teratogens) have all been considered as possible causes. A small number of cases are linked to specific etiologic factors. […] Most infants born with myelomeningocele are born to mothers with no previously affected children. However, other offspring in a family with 1 affected child are at greater risk for neural tube defect than are children without affected siblings. The risk is 1 in 20-30 for subsequent pregnancies, but if 2 children are affected, the risk becomes 1 in 2. An increase in the risk of myelomeningocele has also been reported for second- and third-degree relatives of affected individuals.

• #1 Spina bifida: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/spina-bifida/

  Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. […] Changes in dozens of genes in individuals with spina bifida and in those of their mothers may influence the risk of developing this type of neural tube defect. […] A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects like spina bifida. […] Researchers have also examined environmental factors that could contribute to the risk of spina bifida. […] Other possible maternal risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.

• #1 Spina Bifida: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/311113-overview

  The risk of having a child with myelomeningocele has also possibly been associated with maternal exposures to fumonisins, electromagnetic fields, hazardous waste sites, disinfection by-products found in drinking water, and pesticides. […] Research in the 1980s showed correction of folic acid deficiency as an effective means of primary and recurrent prevention of neural tube defects. At least half of cases of neural tube defects are related to a nutritional deficiency of folic acid or increased requirement and, thus, are potentially preventable.

• #1

  https://www.nhs.uk/conditions/spina-bifida/causes/

  It’s not known what causes spina bifida but a number of things can increase the risk of a baby developing the condition. […] Not having enough folic acid during pregnancy is one of the most important factors that can increase your chances of having a child with spina bifida. […] It’s estimated that taking folic acid supplements before you conceive and while you’re pregnant may prevent up to 7 out of 10 cases of neural tube defects, such as spina bifida. […] Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a baby with spina bifida. […] Taking certain medicines during pregnancy has been linked to an increased risk of having a baby with spina bifida or other birth defects. […] Valproate and carbamazepine are medicines linked to spina bifida.

• #1 Spina Bifida (Neural Tube Anomaly) Causes, Symptoms, and Treatments

  https://www.upmc.com/services/womens-health/conditions/spina-bifida

  Spina bifida occurs when the vertebrae dont form properly around the spinal cord while the baby develops in the womb. This gap or opening in the vertebrae can occur anywhere along the spine and can result in a sac of fluid forming on the babys back. […] Doctors don’t know what causes spina bifida exactly, but research points to a combination of genetic and environmental factors. […] Risk factors for spina bifida include: […] Lack of folic acid. Folic acid is important in neural tube development. Since 1998, when common breakfast cereals, breads, tortillas, and rice became fortified with folic acid, cases of severe spina bifida have decreased by 70%. […] There’s no way to prevent spina bifida because doctors don’t know its cause. If your baby is born with spina bifida, it’s not because of something you did or didn’t do.

• #1 Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

  https://www.mdpi.com/2221-3759/10/2/22

  Studies have indicated autosomal dominant inheritance of SB and other NTDs at multiple loci, including the VANGL1 gene, VANGL2 gene, FUZ gene, the CELSR1 gene, and the TBXT gene. […] Recent studies show beta catenin gain of function and PAX3 loss of function produces additive effects on NTDs due to their interactions. […] Maternal diabetes and obesity have both been implicated in an increased risk for NTDs. […] The most well-known drug responsible for NTDs, is valproate (valproic acid), an antiepileptic drug (AED). […] The exact mechanism of how folate supplementation rescues NTDs is unclear, but one hypothesis centers around its ability to recover a disturbance in cell growth in the neuroepithelium of the neural plate and neural fold. […] Today, the decreased incidence of NTDs is largely due to the prevention of folate deficiency, a risk factor that was implicated as early as in the 1960s, but not fully appreciated until the late 1980s and early 1990s.

• #1 Spina Bifida Causes, Treatment, Symptoms, Types & Life Expectancy

  https://www.emedicinehealth.com/spina_bifida/article_em.htm

  Spina bifida begins in the womb, when the tissues that fold to form the neural tube do not close or do not stay closed completely. This causes an opening in the vertebrae, which surround and protect the spinal cord. […] Both genetic factors (heredity) and environmental factors, such as nutrition and exposure to harmful substances, probably contribute to spina bifida. Spina bifida does seem to run in families, although with mixed patterns of inheritance. […] Research has suggested that many cases of spina bifida can be prevented by adequate intake of folic acid (folate) before and during early pregnancy. However, people with spina bifida appear to have abnormal metabolism of folic acid. This suggests that the underlying problem in spina bifida may be an inborn defect in folic acid metabolism rather than a simple deficiency in this nutrient.

• #1 Spina Bifida: Causes, Symptoms, and Treatment

  https://bocahindonesia.com/en/spina-bifida-when-the-spinal-column-does-not-form-completely/

  Spina bifida is a congenital birth defect that occurs when the spinal column and its nerves do not form completely. […] The exact cause of spina bifida is not known, but it is believed to be related to genetic, environmental, and dietary factors that can affect the development of the fetal nervous system. One of the most extensively studied factors is the level of folic acid (vitamin B9) in pregnant women. Studies have found that a deficiency of folic acid during pregnancy increases the risk of spina bifida in the fetus. […] Other factors that can increase the risk of spina bifida include: Ethnicity: Spina bifida is more commonly found in people of White and Hispanic ethnicity and is more prevalent in females than males. Family history of neural tube defects: Couples who have previously had a child with a neural tube defect are at a higher risk of having another child with the same defect later on. The risk increases further if they have two children with the condition. Additionally, women born with spina bifida are also at an increased risk of giving birth to a baby with spina bifida. However, most babies with spina bifida are born to parents who do not have the condition. Medications: Certain medications, such as the antiepileptic drug valproate, taken during pregnancy, can interfere with the body’s ability to absorb and process folic acid, leading to spina bifida. Diabetes: Women with poorly managed diabetes are at an increased risk of having a baby with spina bifida. Obesity: Being obese, especially before pregnancy, is associated with an increased risk of neural tube defects, including spina bifida.

• #1 Spina Bifida: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/311113-overview

  Up to 10% of fetuses with a neural tube defect detected in early gestation have an associated chromosomal abnormality. Associated chromosomal abnormalities include trisomies 13 and 18, triploidy, and single-gene mutations. […] In women with pregestational diabetes, the risk of having a child with a CNS malformation, including myelomeningocele, is 2-10 fold higher than the risk in the general population. The mechanism underlying this teratogenic effect is not well defined but is related to the degree of maternal metabolic control. The risk in women who develop gestational diabetes is lower than the risk in women with pregestational diabetes, but it might not be as low as in the general population. […] Other risk factors for myelomeningocele include maternal obesity, hyperthermia (as a result of maternal fever or febrile illness or the use of saunas, hot tubs, or tanning beds), and maternal diarrhea. Identified risk factors also include intrauterine exposure to antiepileptic drugs, particularly valproate and carbamazepine, and to drugs used to induce ovulation.

• #1 Spina bifida – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860

  Having diabetes that is not well controlled before becoming pregnant increases the risk of having a baby with spina bifida. […] Obesity at the time of pregnancy also is associated with an increased risk of spina bifida. […] Some evidence suggests that increased body temperature in the early weeks of pregnancy may increase the risk of spina bifida. A high core body temperature can be caused by a fever or by using a sauna or hot tub.

• #1

  https://www.nhs.uk/conditions/spina-bifida/causes/

  Very rarely a baby can have spina bifida alongside a genetic condition such as Patau’s syndrome, Edwards’ syndrome or Down’s syndrome. […] Other risk factors for spina bifida include: obesity women who are obese (have a body mass index of 30 or more) are more likely to have a child with spina bifida than those of average weight. […] diabetes women with diabetes may have an increased risk of having a child with spina bifida.

• #1

  https://www.nhs.uk/conditions/spina-bifida/

  Spina bifida is a type of neural tube defect. […] It’s not known what causes spina bifida, but a lack of folic acid before and in the early stages of pregnancy is a significant risk factor. […] The cause of spina bifida is unknown, but a number of factors can increase the risk of a baby developing the condition. […] These include: low folic acid intake during pregnancy, having a family history of spina bifida, medicines taking certain medicines such as valproic acid (used to prevent seizures) during pregnancy has been linked to an increased risk of having a baby with spina bifida.

• #1 Spina Bifida | Doctor

  https://patient.info/doctor/spina-bifida-pro

  The cause of spina bifida is thought to be multifactorial: […] There appears to be a combination of genetic susceptibility with environmental precipitants, particularly shortage of folic acid in the mother’s diet at a crucial stage in embryogenesis (days 17-30 when many mothers are unaware that they are pregnant). This is when the neural tube is forming and closing. […] Supplementation of newly pregnant mothers’ diets and periconceptual advice to increase folic acid intake have been shown to reduce the incidence of neural tube defects significantly. […] Chromosomal abnormalities including trisomy 13 (Patau’s syndrome), 18 (Edwards’ syndrome) and 21 (Down’s syndrome) have been associated with neural tube defects. […] Risks are increased with maternal diabetes and obesity. […] Maternal use of anti-epileptic medications – sodium valproate and carbamazepine. Risk is greater with valproate (11-14 times greater than controls) and increased further if more than one type of medication is used.

• #1 Spina bifida | Children’s Wisconsin

  https://childrenswi.org/medical-care/fetal-concerns-center/conditions/infant-complications/spina-bifida

  Spina bifida is a defect in the development of the spine, resulting in a lack of skin and tissue covering the spinal cord. […] Although we dont know what causes this condition, it appears to be inherited in some cases, and it may also involve dietary and environmental factors. […] In more than 90 percent of cases, an ONTD occurs without a prior family history of these defects. ONTDs result from a combination of genes inherited from both parents, coupled with environmental factors. Environmental factors that may contribute to ONTDs include uncontrolled diabetes in the mother, certain prescription medications and a lack of folic acid. […] Additional risk factors include maternal age (spina bifida is more commonly seen in teenage mothers), history of miscarriage, birth order (first-born infants are at higher risk), and socioeconomic status (children born into lower socioeconomic families are at higher risk for developing spina bifida possibly because their mothers are more likely to have a poor diet lacking essential vitamins and minerals).

• #1 Spina bifida | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spina-bifida

  Spina bifida refers to a range of birth defects that affect the spinal cord. […] In spina bifida, some vertebrae of the spine arent closed, leaving the spinal cord nerves exposed and damaged. […] Neural tube defects (both anencephaly and spina bifida) are caused by genetic and environmental factors that are not yet fully understood. The risk of these conditions is approximately one in every 800 pregnancies. Inadequate intake of folate by the mother in early pregnancy is a significant factor in the occurrence of spina bifida. […] The number of babies born with spina bifida in Australia has dropped dramatically in recent years due to greater awareness and intake of folate by women prior to and in the early stages of pregnancy. Improved ultrasound and other tests that detect spina bifida and provide the choice of pregnancy termination have also reduced its occurrence.

• #1 Spina Bifida Occulta (Hidden Spina Bifida)

  https://my.clevelandclinic.org/health/diseases/22825-spina-bifida-occulta

  Spina bifida occulta is a condition present at birth (a congenital birth defect) caused by your spine forming incorrectly during fetal development. […] The cause of spina bifida occulta is unknown. Research suggests that the cause could relate to several genetic, nutritional and environmental factors, including: A lack of folate (vitamin B9) during pregnancy. […] Always talk to your healthcare provider if you anticipate becoming pregnant to understand your risk of having a child with a condition like spina bifida occulta. Theyll advise on whether you need to start adding folate or folic acid to your diet or whether or not your current medications pose a threat to the health of your child. […] If you plan to become pregnant, you can take steps to reduce your risk of having a child with spina bifida occulta by: Taking folic acid: The U.S. Centers for Disease Control and Prevention (CDC) recommends taking 400 micrograms (mcg) of folic acid daily. This could reduce your risk of having a child with spina bifida by up to 75%. […] The cause of spina bifida occulta is unknown.

• #1 Breakthrough Study Sheds New Light on Causes of Spina Bifida and Potential Treatments | RCIGM

  https://radygenomics.org/2025/breakthrough-study-sheds-new-light-on-causes-of-spina-bifida-and-potential-treatments/

  Scientists at Rady Childrens Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant breakthrough in understanding the causes of spina bifida, a serious birth defect affecting thousands of newborns each year. […] Spina bifida, or meningomyelocele, occurs when the spine and spinal cord do not form properly during early pregnancy. […] Our research identifies specific steps in embryogenesis that contribute to spina bifida, said Dr. Joseph Gleeson, senior author of the study and professor at Rady Childrens and UC San Diego. This is a major step forward in understanding why this condition occurs and how we might one day prevent it. […] The study made a bold assertion, considering that new DNA mutations, not present in mother or father, contribute to the cause.

• #2

  https://www.nhs.uk/conditions/spina-bifida/causes/

  It’s not known what causes spina bifida but a number of things can increase the risk of a baby developing the condition. […] Not having enough folic acid during pregnancy is one of the most important factors that can increase your chances of having a child with spina bifida. […] It’s estimated that taking folic acid supplements before you conceive and while you’re pregnant may prevent up to 7 out of 10 cases of neural tube defects, such as spina bifida. […] Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a baby with spina bifida. […] Taking certain medicines during pregnancy has been linked to an increased risk of having a baby with spina bifida or other birth defects. […] Valproate and carbamazepine are medicines linked to spina bifida.

• #2 Spina Bifida: Cause of Defect, Walking, Long-Term Care

  https://www.verywellhealth.com/spina-bifada-7509648

  Spina bifida is a congenital condition, meaning that it develops before birth during development. The neural tube that develops into the brain and spinal cord does not form correctly, leaving an opening in the spinal column that exposes the spinal cord. […] The development of spina bifida usually is genetic, with 60%70% of cases being linked to mutated genes. For other cases of spina bifida without a genetic link, the biggest risk factor that influences the development of spina bifida is a deficiency in levels of folate (folic acid), also known as vitamin B9. […] Other risk factors that can influence the development of spina bifida include: Alcohol use, Caffeine use, Smoking, Low levels of methionine, choline, zinc, vitamin B12, and vitamin C, Infections or illnesses during pregnancy, Diabetes, Obesity, Stress, Toxin exposure during pregnancy. […] Spina bifida usually is genetic but can also develop due to a deficiency of folate or exposure to toxins during development.

• #2 Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

  https://www.mdpi.com/2221-3759/10/2/22

  Studies have indicated autosomal dominant inheritance of SB and other NTDs at multiple loci, including the VANGL1 gene, VANGL2 gene, FUZ gene, the CELSR1 gene, and the TBXT gene. […] Recent studies show beta catenin gain of function and PAX3 loss of function produces additive effects on NTDs due to their interactions. […] Maternal diabetes and obesity have both been implicated in an increased risk for NTDs. […] The most well-known drug responsible for NTDs, is valproate (valproic acid), an antiepileptic drug (AED). […] The exact mechanism of how folate supplementation rescues NTDs is unclear, but one hypothesis centers around its ability to recover a disturbance in cell growth in the neuroepithelium of the neural plate and neural fold. […] Today, the decreased incidence of NTDs is largely due to the prevention of folate deficiency, a risk factor that was implicated as early as in the 1960s, but not fully appreciated until the late 1980s and early 1990s.

• #2 Is Spina Bifida Genetic?

  https://www.healthline.com/health/is-spina-bifida-genetic

  Spina bifida is a developmental issue for a fetus marked by spinal cord and vertebrae structural changes. While environmental factors can cause this condition, genetics may also play a role. […] Experts dont know the exact cause of spinal bifida. But they do know that different environmental and genetic factors may increase the risks of having this condition. […] Genetics may play a role in a persons risk of spinal bifida. That said, there isnt just one gene that may be involved. […] More than 240 different genetic mutations linked to spina bifida in studies on mice. In humans, spina bifida linked to autosomal dominant inheritance of the following genes: VANGL1, VANGL2, FUZ, CELSR1, TBXT. […] MTHFR is yet another gene that may link to spina bifida. In particular, people with mutations in MTHFR may have difficulty metabolizing folate, which is an important vitamin that protects against neural tube defects. […] Despite identifying specific genes linked to spinal bifida, researchers believe spinal bifida may result from various genetic mutations and environmental factors.

• #2 Spina bifida can be caused by uninherited genetic mutations | UCL News – UCL – University College London

  https://www.ucl.ac.uk/news/2021/feb/spina-bifida-can-be-caused-uninherited-genetic-mutations

  Genetic mutations which occur naturally during the earliest stages of an embryos development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists. […] The study, published in Nature Communications, explains for the first time how a mosaic mutation a mutation which is not inherited from either parent (either via sperm or egg cell) but occurs randomly during cell divisions in the developing embryo causes spina bifida. […] Specifically the scientists, based at UCL Great Ormond Street Institute of Child Health, found that when a mutation in the gene Vangl2 (which contains information needed to create spinal cord tissue) was present in 16% of developing spinal cord cells of mouse embryos, this was sufficient to produce spina bifida. […] Researchers say they do not fully understand why mosaic mutations occur though environmental factors may be involved and cannot yet draw a link with taking (or not) folic acid during pregnancy.

• #2 Spina Bifida – AANS

  https://www.aans.org/patients/conditions-treatments/spina-bifida/

  Spina bifida occurs during the third and fourth weeks of pregnancy when a portion of the fetal spinal cord fails to properly close. As a result, the child is born with a part of the spinal cord exposed on the back. […] Spina bifida is the most common, permanently disabling birth defect. […] Although scientists believe that genetic and environmental factors may act together to cause spina bifida, 95% of babies with spina bifida are born to parents with no family history. Women with certain chronic health problems, including diabetes and seizure disorders (treated with certain anticonvulsant medications), have an increased risk (approximately 1/100) of having a baby with spina bifida.

• #2 Spina Bifida: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/311113-overview

  The etiology in most cases of myelomeningocele is multifactorial, involving genetic, racial, and environmental factors, in which nutrition, particularly folic acid intake, is key. Cytoplasmic factors, polygenic inheritance, chromosomal aberrations, and environmental influences (eg, teratogens) have all been considered as possible causes. A small number of cases are linked to specific etiologic factors. […] Most infants born with myelomeningocele are born to mothers with no previously affected children. However, other offspring in a family with 1 affected child are at greater risk for neural tube defect than are children without affected siblings. The risk is 1 in 20-30 for subsequent pregnancies, but if 2 children are affected, the risk becomes 1 in 2. An increase in the risk of myelomeningocele has also been reported for second- and third-degree relatives of affected individuals.

• #2 Spina bifida | healthdirect

  https://www.healthdirect.gov.au/spina-bifida

  Spina bifida is a type of neural tube defect where the babys spine and spinal cord do not develop properly during the first month of pregnancy, sometimes causing health problems. […] There is no single cause for spina bifida. Research suggests that genetic and environmental factors, such as your diet, can contribute to the development of spina bifida. […] Taking a folic acid supplement when planning a pregnancy, and for the first 3 months after conception, is the best way to prevent spina bifida. […] Folate can prevent up to 70 per cent of spina bifida cases if taken daily for one month before conception and during the first three months of pregnancy.

• #2

  https://www.nhs.uk/conditions/spina-bifida/causes/

  Very rarely a baby can have spina bifida alongside a genetic condition such as Patau’s syndrome, Edwards’ syndrome or Down’s syndrome. […] Other risk factors for spina bifida include: obesity women who are obese (have a body mass index of 30 or more) are more likely to have a child with spina bifida than those of average weight. […] diabetes women with diabetes may have an increased risk of having a child with spina bifida.

• #2 Spina Bifida: Causes, Symptoms, Diagnoses, and Treatment

  https://www.webmd.com/parenting/baby/spina-bifida

  Some research suggests that exposure to high temperatures early in pregnancy — from a fever or using a sauna or hot tub — might increase spina bifida risk. […] Spina bifida is more common in babies with a family history of the condition, which raises the possibility that inherited gene differences are involved. Research so far suggests that dozens of genes may be involved. The best studied of these genes is involved in processing folate.

• #2 Spina Bifida | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/spina-bifida

  Anyone can give birth to a baby with spina bifida. Scientists dont know the exact cause of spina bifida, but they think genetics, nutrition, and the environment may play a part. […] Additionally, women who have diabetes that isnt well managed, or who are taking certain antiseizure medications (especially valproate, which also is used in the treatment of headaches and bipolar disorder), are at greater risk of having a child with spina bifida. Not getting enough folic acid daily is another risk factor. Researchers are still working to understand the role that genetics, the environment, and nutrition play in the development of spina bifida. […] In one study funded by NINDS, scientists are looking into the genetic reasons behind neural tube defects. The study aims to find out which genes can make someone more likely to have these defects. They are also investigating how genes work during healthy neural tube closure to learn more about how the human nervous system develops. […] Other scientists are studying genetic risk factors for spina bifida, especially those that may lower the effectiveness of folic acid in preventing it. This study will shed light on how folic acid prevents spina bifida and may lead to improvements in folate supplements.

• #2 Spina Bifida | Doctor

  https://patient.info/doctor/spina-bifida-pro

  The cause of spina bifida is thought to be multifactorial: […] There appears to be a combination of genetic susceptibility with environmental precipitants, particularly shortage of folic acid in the mother’s diet at a crucial stage in embryogenesis (days 17-30 when many mothers are unaware that they are pregnant). This is when the neural tube is forming and closing. […] Supplementation of newly pregnant mothers’ diets and periconceptual advice to increase folic acid intake have been shown to reduce the incidence of neural tube defects significantly. […] Chromosomal abnormalities including trisomy 13 (Patau’s syndrome), 18 (Edwards’ syndrome) and 21 (Down’s syndrome) have been associated with neural tube defects. […] Risks are increased with maternal diabetes and obesity. […] Maternal use of anti-epileptic medications – sodium valproate and carbamazepine. Risk is greater with valproate (11-14 times greater than controls) and increased further if more than one type of medication is used.

• #2 Spina Bifida: Causes, Symptoms, Diagnoses, and Treatment

  https://www.webmd.com/parenting/baby/spina-bifida

  Spina bifida is a condition that affects the spine and is present at birth. […] There’s no clear cause for spina bifida. But scientists believe a combination of environment, genes, and nutrition during pregnancy can play a role. […] The development of the neural tube depends partly on adequate levels of folate, or vitamin B9. It is found naturally in some foods and in synthetic form as folic acid, which is added to supplements and fortified foods. When levels are low in a pregnant person’s body, the risk of spina bifida increases. […] Taking some medicines during pregnancy, including the seizure drug Depakote, may increase the risk. […] Having diabetes that isn’t well controlled during pregnancy may increase the risk for spina bifida. […] Someone who is obese when they get pregnant has an increased risk of having a baby with spina bifida.

• #2 Spina Bifida: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/311113-overview

  Up to 10% of fetuses with a neural tube defect detected in early gestation have an associated chromosomal abnormality. Associated chromosomal abnormalities include trisomies 13 and 18, triploidy, and single-gene mutations. […] In women with pregestational diabetes, the risk of having a child with a CNS malformation, including myelomeningocele, is 2-10 fold higher than the risk in the general population. The mechanism underlying this teratogenic effect is not well defined but is related to the degree of maternal metabolic control. The risk in women who develop gestational diabetes is lower than the risk in women with pregestational diabetes, but it might not be as low as in the general population. […] Other risk factors for myelomeningocele include maternal obesity, hyperthermia (as a result of maternal fever or febrile illness or the use of saunas, hot tubs, or tanning beds), and maternal diarrhea. Identified risk factors also include intrauterine exposure to antiepileptic drugs, particularly valproate and carbamazepine, and to drugs used to induce ovulation.

• #2 Spina Bifida: Types, Tests, Treatment & Prevention

  https://my.clevelandclinic.org/health/diseases/8719-spina-bifida

  Spina bifida is caused by the incomplete development of the fetus spine during the first month of pregnancy. […] Its caused by the incomplete development of the fetus’ spine during the first month of pregnancy. […] Spina bifida happens during the first 28 days of pregnancy, often before a woman knows shes pregnant. […] The exact cause of the occurrence of spina bifida isnt clear. A combination of genetics and environmental factors is thought to be the main cause.

• #2 Spina Bifida Occulta (Hidden Spina Bifida)

  https://my.clevelandclinic.org/health/diseases/22825-spina-bifida-occulta

  Spina bifida occulta is a condition present at birth (a congenital birth defect) caused by your spine forming incorrectly during fetal development. […] The cause of spina bifida occulta is unknown. Research suggests that the cause could relate to several genetic, nutritional and environmental factors, including: A lack of folate (vitamin B9) during pregnancy. […] Always talk to your healthcare provider if you anticipate becoming pregnant to understand your risk of having a child with a condition like spina bifida occulta. Theyll advise on whether you need to start adding folate or folic acid to your diet or whether or not your current medications pose a threat to the health of your child. […] If you plan to become pregnant, you can take steps to reduce your risk of having a child with spina bifida occulta by: Taking folic acid: The U.S. Centers for Disease Control and Prevention (CDC) recommends taking 400 micrograms (mcg) of folic acid daily. This could reduce your risk of having a child with spina bifida by up to 75%. […] The cause of spina bifida occulta is unknown.

• #2 caret_down icon

  https://www.beaumont.org/conditions/spina-bifida-causes

  Spina bifida is a birth defect where the spine and spinal cord don’t form properly. […] Spinal conditions can happen for different reasons. […] Structural abnormalities can cause problems with how your back works and feels.

• #2 Breakthrough Study Sheds New Light on Causes of Spina Bifida and Potential Treatments | RCIGM

  https://radygenomics.org/2025/breakthrough-study-sheds-new-light-on-causes-of-spina-bifida-and-potential-treatments/

  Researchers found that nearly a quarter of patients have such new mutations that contribute to risk of disease, and that these mutations impact how cells within the embryo connect to one another. […] These findings challenge previous assumptions and show that many patients have a single gene that is likely the cause. […] The study suggests that new approaches to study causes using stem cell models could be used to advance novel interventions such as gene therapy, targeted drugs, or nutritional interventions. […] While folic acid is established as an important risk factor, the results offer a promising avenue for further reducing the severity or even preventing spina bifida altogether in the future. […] This discovery brings us closer to one day being able to intervene before the condition develops, said Dr. Gleeson.

• #3 Etiology and Pathophysiology of the Spina Bifida | IntechOpen

  https://www.intechopen.com/chapters/76268

  The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. […] Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. […] The etiology of spinal dysraphism is multifactorial. […] Although no clear etiology is known to result in either the open or closed forms, some regional adverse factors have been reported, primarily involving the mother at conception and early pregnancy. […] Considerable evidence points to a major genetic component in the spina bifida causation, raising the question of which genes are implicated. […] Up to date evidence supports a theory of a multi-factorial origin of neural tube defects as a consequence of both, genetic and non-genetic factors. […] The most of suspected etiological factors does not have strong evidence or occur less frequently. This underlines to theory of multifactorial etiology of neural tube defects.

• #3 Is Spina Bifida Genetic?

  https://www.healthline.com/health/is-spina-bifida-genetic

  Spina bifida is a developmental issue for a fetus marked by spinal cord and vertebrae structural changes. While environmental factors can cause this condition, genetics may also play a role. […] Experts dont know the exact cause of spinal bifida. But they do know that different environmental and genetic factors may increase the risks of having this condition. […] Genetics may play a role in a persons risk of spinal bifida. That said, there isnt just one gene that may be involved. […] More than 240 different genetic mutations linked to spina bifida in studies on mice. In humans, spina bifida linked to autosomal dominant inheritance of the following genes: VANGL1, VANGL2, FUZ, CELSR1, TBXT. […] MTHFR is yet another gene that may link to spina bifida. In particular, people with mutations in MTHFR may have difficulty metabolizing folate, which is an important vitamin that protects against neural tube defects. […] Despite identifying specific genes linked to spinal bifida, researchers believe spinal bifida may result from various genetic mutations and environmental factors.

• #3 Spina Bifida | Living With Paralysis | Reeve Foundation

  https://www.christopherreeve.org/todays-care/living-with-paralysis/health/causes-of-paralysis/spina-bifida/

  Why spina bifida occurs is not fully understood. There is evidence that it is due in part to a lack of folic acid in the mothers diet. […] Specific evidence of these causes leading to spina bifida has not yet been noted. […] If a mother gives birth to a child with spina bifida, the risk of other children with the same issue is increased by 3%. If more than one child has spina bifida, the risks of other children with the same issue is even higher. This suggests a possibility that there could be a family link or genetic issue that has not been discovered.

• #3 Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

  https://www.mdpi.com/2221-3759/10/2/22

  Studies have indicated autosomal dominant inheritance of SB and other NTDs at multiple loci, including the VANGL1 gene, VANGL2 gene, FUZ gene, the CELSR1 gene, and the TBXT gene. […] Recent studies show beta catenin gain of function and PAX3 loss of function produces additive effects on NTDs due to their interactions. […] Maternal diabetes and obesity have both been implicated in an increased risk for NTDs. […] The most well-known drug responsible for NTDs, is valproate (valproic acid), an antiepileptic drug (AED). […] The exact mechanism of how folate supplementation rescues NTDs is unclear, but one hypothesis centers around its ability to recover a disturbance in cell growth in the neuroepithelium of the neural plate and neural fold. […] Today, the decreased incidence of NTDs is largely due to the prevention of folate deficiency, a risk factor that was implicated as early as in the 1960s, but not fully appreciated until the late 1980s and early 1990s.

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