Folic Acid and Neural Tube Defects Prevention
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Questions and Answers

Folic acid does not prevent the neurologic ______ consequences of vitamin B12 deficiency.

consequences

The USPHS recommendation cautioned that intake of folate should be not more than ______ mg per day.

1000

Routine prenatal screening for ______ is still advisable.

NTDs

The tolerable upper intake limit of synthetic folic acid was set at ______ mg.

<p>1000</p> Signup and view all the answers

Women with a history of a previous pregnancy resulting in a fetus with an ______ should be advised to consume high levels of folic acid.

<p>NTD</p> Signup and view all the answers

Studies that definitively address the question of maternal and fetal safety of folic acid are ______.

<p>not available</p> Signup and view all the answers

About a quarter of all women have consumed folic acid during ______ pregnancy without apparent adverse effects.

<p>later</p> Signup and view all the answers

High-risk women should consume ______ mg of folic acid per day when a pregnancy is not planned.

<p>4000</p> Signup and view all the answers

A daily dosage of ______ mg of folic acid resulted in a 71% reduction of recurrence of NTDs.

<p>4000</p> Signup and view all the answers

The recommendations were developed by the US Public Health Service and the Centers for Disease ______.

<p>Control</p> Signup and view all the answers

There are two separate recommendations for women based on their history of a previous ______-affected pregnancy.

<p>NTD</p> Signup and view all the answers

The addition of other vitamins to the dosage of folic acid did not reduce the ______ further.

<p>risk</p> Signup and view all the answers

Use of multivitamins without ______ did not result in a reduced risk for NTDs.

<p>folic acid</p> Signup and view all the answers

An earlier study suggested that a lower dosage of ______ mg of folic acid could still provide benefits.

<p>360</p> Signup and view all the answers

The recommendations do not indicate an exclusive course of ______ or serve as a standard of medical care.

<p>treatment</p> Signup and view all the answers

The study referenced was conducted in the United ______.

<p>Kingdom</p> Signup and view all the answers

Fewer than 1 in 3 women consume the amount of ______ recommended by the USPHS.

<p>folic acid</p> Signup and view all the answers

The prevention of NTDs depends on an urgent and effective campaign to close this ______.

<p>prevention gap</p> Signup and view all the answers

Regular ingestion of folic acid by women of childbearing age is necessary because approximately half of the pregnancies in the United States are ______.

<p>unplanned</p> Signup and view all the answers

Neural tube closure occurs during the first ______ weeks of gestation.

<p>4</p> Signup and view all the answers

The publication of the USPHS recommendation occurred in ______ 1992.

<p>September</p> Signup and view all the answers

Despite recommendations, a 1998 poll showed that 70% of women aged 18 to 45 years still are not following the USPHS ______.

<p>recommendation</p> Signup and view all the answers

Neural tube defects (NTDs) are among the most common ______ defects contributing to infant mortality.

<p>birth</p> Signup and view all the answers

The Academy notes that all women of childbearing age who are capable of becoming pregnant take ______ mg of folic acid daily.

<p>400</p> Signup and view all the answers

Women with a close relative (eg, sibling, niece, or nephew) who has an ______ has an increased risk.

<p>NTD</p> Signup and view all the answers

Women with type 1 diabetes mellitus have a risk of approximately ______ percent for NTDs.

<p>1</p> Signup and view all the answers

Women treated with valproic acid or carbamazepine have a risk of approximately ______ percent for NTDs.

<p>1</p> Signup and view all the answers

For a woman who has an NTD, the risk for an affected child may be between ______ to ______ percent.

<p>2, 3</p> Signup and view all the answers

Women planning a pregnancy should discuss folic acid intake of ______ mg with their physician.

<p>4000</p> Signup and view all the answers

The recommended intake of periconceptional folic acid for women at risk is ______ mg.

<p>4000</p> Signup and view all the answers

The AAP recommends that women discuss NTD risks with their ______.

<p>physician</p> Signup and view all the answers

The references indicate that the use of folic acid has been recommended since ______.

<p>1983</p> Signup and view all the answers

The ______ is responsible for public health and safety recommendations in the United States.

<p>Centers for Disease Control and Prevention</p> Signup and view all the answers

Michele Lloyd-Puryear, MD, PhD, contributed to research published in the ______.

<p>American Journal of Clinical Nutrition</p> Signup and view all the answers

Neural tube defects and congenital malformations are discussed in ______ practices.

<p>medical genetics</p> Signup and view all the answers

Felix de la Cruz, MD, MPH highlighted the need for caution regarding ______ and birth defects.

<p>vitamin A</p> Signup and view all the answers

The ______ Academy of Pediatrics advocates for children's health and welfare.

<p>American</p> Signup and view all the answers

The educational program aims to prevent folic acid–preventable ______ throughout the use of supplements.

<p>NTDs</p> Signup and view all the answers

The effective folate dose is being studied to further refine its ______ and mechanisms of action.

<p>effectiveness</p> Signup and view all the answers

The AAP encourages additional efforts at devising a program of food ______ with folic acid.

<p>fortification</p> Signup and view all the answers

The recommendation advises that all women capable of becoming pregnant should receive a daily intake of 400 mg of ______.

<p>folic acid</p> Signup and view all the answers

Surveillance of effectiveness and adverse outcomes in the educational program is critical for ______ its strategies.

<p>refining</p> Signup and view all the answers

The Centers for Disease Control and Prevention provided recommendations for the use of folic acid to reduce cases of spina ______ and other neural tube defects.

<p>bifida</p> Signup and view all the answers

The knowledge and use of folic acid by women of ______ age was studied in the United States during 1995 and 1998.

<p>childbearing</p> Signup and view all the answers

Vitamin supplementation is suggested for the prevention of neural tube defect ______.

<p>recurrences</p> Signup and view all the answers

What is the primary recommendation for women capable of becoming pregnant to prevent neural tube defects?

<p>To consume 400 mg of folic acid daily.</p> Signup and view all the answers

What is the increased daily intake of folic acid recommended for women with a history of NTD-affected pregnancies?

<p>4000 mg per day.</p> Signup and view all the answers

What period is critical for effective folic acid supplementation to prevent neural tube defects?

<p>Beginning at least 1 month before conception and continuing through the first trimester.</p> Signup and view all the answers

What percentage of children with neural tube defects are born to parents with no family history of these defects?

<p>95%.</p> Signup and view all the answers

How much NTDs can be prevented by proper folic acid intake according to studies?

<p>50% or more.</p> Signup and view all the answers

What two organizations collaborated to develop recommendations regarding folic acid intake for NTD prevention?

<p>The US Public Health Service (USPHS) and the Centers for Disease Control and Prevention (CDC).</p> Signup and view all the answers

Why is regular intake of folic acid particularly important for women of childbearing age?

<p>Approximately half of the pregnancies in the United States are unplanned.</p> Signup and view all the answers

What is the effective outcome of the AAP's recommendations regarding folic acid use?

<p>The primary prevention of serious and disabling birth defects.</p> Signup and view all the answers

What is the recommended daily intake of folic acid for women with a history of a previous NTD-affected pregnancy?

<p>4000 mg</p> Signup and view all the answers

How does the addition of other vitamins to the recommended folic acid dosage affect the risk of NTDs?

<p>It does not reduce the risk further.</p> Signup and view all the answers

What percentage reduction in recurrence of NTDs is associated with a daily dosage of 4000 mg of folic acid?

<p>71%</p> Signup and view all the answers

What was the suggested lower dosage of folic acid that might still yield benefits, according to earlier studies?

<p>360 mg</p> Signup and view all the answers

What is the recommended daily intake of folic acid for women capable of becoming pregnant?

<p>400 mg</p> Signup and view all the answers

What are the primary organizations responsible for developing the recommendations regarding folic acid intake?

<p>The US Public Health Service and the Centers for Disease Control and Prevention.</p> Signup and view all the answers

What condition does the educational program specifically aim to prevent through folic acid supplementation?

<p>Neural tube defects (NTDs)</p> Signup and view all the answers

What approach does the statement take regarding the recommendations for folic acid dosage?

<p>It allows for variations based on individual circumstances.</p> Signup and view all the answers

Why is regular ingestion of folic acid particularly important for women of childbearing age?

<p>About half of pregnancies are unplanned.</p> Signup and view all the answers

What has the Academy of Pediatrics encouraged regarding food fortification?

<p>Additional efforts in food fortification with folic acid.</p> Signup and view all the answers

What is the relationship between multivitamins without folic acid and the risk for NTDs?

<p>They do not result in a reduced risk for NTDs.</p> Signup and view all the answers

What critical period in gestation is folic acid most important for preventing NTDs?

<p>The first few weeks of gestation.</p> Signup and view all the answers

What specific population should the educational program and recommendations be targeting?

<p>Women of childbearing age.</p> Signup and view all the answers

What are the expected outcomes of implementing surveillance in the educational program?

<p>To improve effectiveness and monitor adverse outcomes.</p> Signup and view all the answers

Which organization is responsible for the public health recommendations regarding folic acid?

<p>Centers for Disease Control and Prevention (CDC).</p> Signup and view all the answers

What adverse outcomes might arise from insufficient folic acid intake during pregnancy?

<p>Increased risk of spina bifida and other NTDs.</p> Signup and view all the answers

What is the recommended daily intake of folic acid for women of childbearing age?

<p>400 mg</p> Signup and view all the answers

Why is regular ingestion of folic acid particularly necessary for women of childbearing age?

<p>Because approximately half of the pregnancies are unplanned and neural tube closure occurs in the first 4 weeks of gestation.</p> Signup and view all the answers

What percentage of women aged 18 to 45 years were not following the USPHS recommendation according to a 1998 poll?

<p>70%</p> Signup and view all the answers

What serious birth defects are primarily associated with a deficiency in folic acid?

<p>Neural tube defects (NTDs)</p> Signup and view all the answers

What organization recommends that all women capable of becoming pregnant take folic acid?

<p>The US Public Health Service (USPHS)</p> Signup and view all the answers

What does the prevention of neural tube defects depend on according to health experts?

<p>An urgent and effective campaign to close the prevention gap in folic acid intake.</p> Signup and view all the answers

How can the incidence of neural tube defects be reduced?

<p>By increasing folic acid intake among women of childbearing age.</p> Signup and view all the answers

What is a significant outcome of not consuming the recommended amount of folic acid?

<p>Increased risk of serious disabling birth defects such as neural tube defects.</p> Signup and view all the answers

What role does folic acid play in preventing neural tube defects?

<p>Folic acid helps in DNA synthesis and cell division, reducing the risk of neural tube defects such as spina bifida and anencephaly.</p> Signup and view all the answers

Identify one group of women who should consider higher doses of folic acid.

<p>Women with a history of previous pregnancies affected by neural tube defects should consider higher doses.</p> Signup and view all the answers

What is one consequence of insufficient folic acid intake before and during early pregnancy?

<p>Insufficient folic acid intake can lead to the development of neural tube defects like spina bifida.</p> Signup and view all the answers

How do public health recommendations on folic acid serve women planning to conceive?

<p>Public health recommendations emphasize the importance of folic acid to prevent neural tube defects, encouraging proactive dietary supplementation.</p> Signup and view all the answers

What has research shown about folic acid supplementation in preventing spinal cord defects?

<p>Research has shown that adequate folic acid supplementation can reduce the occurrence of spinal cord defects by up to 71%.</p> Signup and view all the answers

Which organizations are responsible for providing guidelines on folic acid intake?

<p>The US Public Health Service and the Centers for Disease Control and Prevention provide guidelines on folic acid intake.</p> Signup and view all the answers

Explain why women capable of becoming pregnant are advised to take folic acid even if they are not planning a pregnancy.

<p>Women are advised to take folic acid proactively because nearly half of all pregnancies are unplanned, and neural tube defects occur early in gestation.</p> Signup and view all the answers

Why is folic acid supplementation considered more effective than dietary folate in preventing NTDs?

<p>Folic acid supplementation raises blood folate concentrations more effectively than food folate.</p> Signup and view all the answers

What daily dosage of folic acid is recommended for women of childbearing age without a history of NTD-affected pregnancy?

<p>400 mg (0.4 mg) of folic acid daily.</p> Signup and view all the answers

What potential barriers may prevent women from achieving the recommended dietary folate intake?

<p>Economic and social circumstances may make adequate dietary folate intake difficult.</p> Signup and view all the answers

What role does food fortification play in achieving the recommended intake of folic acid?

<p>Food fortification helps provide a daily intake of 400 mg of folic acid to women.</p> Signup and view all the answers

What is the significance of the AAP's endorsement of the USPHS recommendation regarding folic acid intake?

<p>It emphasizes the importance of folic acid supplementation for women of childbearing age to prevent NTDs.</p> Signup and view all the answers

In the absence of optimal food fortification, what alternative does the AAP recommend for women?

<p>The AAP recommends women consume 400 mg of folic acid daily in addition to a healthy diet.</p> Signup and view all the answers

How does higher folic acid intake relate to vitamin B12 deficiency?

<p>Higher doses of folic acid can correct anemia associated with vitamin B12 deficiency.</p> Signup and view all the answers

What is the primary reason for advising all women of childbearing age to consume folic acid?

<p>To address the high rate of unplanned pregnancies and reduce the risk of NTDs.</p> Signup and view all the answers

What are some examples of occult spinal dysraphisms (OSDs)?

<p>Examples include split cord malformation, dermal sinus tract, tethered spinal cord, and intraspinal lipoma.</p> Signup and view all the answers

How does spina bifida occulta (SBO) differ from other forms of spina bifida?

<p>SBO is clinically benign and often considered a normal variant, while other forms can cause significant health issues.</p> Signup and view all the answers

What role do cutaneous abnormalities play in diagnosing occult spinal dysraphisms?

<p>Cutaneous abnormalities are often overlying signs that indicate the presence of underlying neural tube defects.</p> Signup and view all the answers

Why might occult spinal dysraphisms go undiagnosed for a long time?

<p>They often do not present obvious clinical signs at birth and can progress insidiously over time.</p> Signup and view all the answers

What types of neurological impairments are associated with occult spinal dysraphisms?

<p>Associated impairments include paresis, spasticity, sensory disturbances, orthopedic deformities, and bowel or bladder dysfunction.</p> Signup and view all the answers

How are most open neural tube defects diagnosed?

<p>They are typically diagnosed prenatally through ultrasonography and serum marker concentrations.</p> Signup and view all the answers

What is the general prevalence of spina bifida among congenital anomalies?

<p>Spina bifida is one of the most common congenital anomalies affecting the spine.</p> Signup and view all the answers

How is a dimple in the lower spine/sacral region related to occult spinal dysraphisms?

<p>A dimple can be a key clinical sign indicating the presence of an underlying occult spinal dysraphism.</p> Signup and view all the answers

What condition is believed to be halted or prevented by early neurosurgical intervention?

<p>Progression of neurologic deficits due to spinal cord tethering.</p> Signup and view all the answers

List two symptoms that may indicate the presence of spinal dysraphism.

<p>Lower extremity weakness or atrophy and bowel/bladder dysfunction.</p> Signup and view all the answers

What type of physical anomalies should pediatricians be vigilant about when evaluating for congenital neurologic malformations?

<p>Midline skin anomalies.</p> Signup and view all the answers

What diagnostic tool is commonly used for evaluating congenital neurologic malformations?

<p>Magnetic resonance imaging (MRI).</p> Signup and view all the answers

What demographic change has been observed in the prevalence of spina bifida and anencephaly from 1995 to 2002?

<p>A decline in prevalence by race and ethnicity.</p> Signup and view all the answers

What is a potential consequence of untreated spinal dysraphism?

<p>Pain and lower extremity spasticity or paresis.</p> Signup and view all the answers

According to research, what evidence supports the importance of identifying cutaneous stigmata in diagnosing spinal conditions?

<p>They often reveal subtle signs of underlying spinal cord anomalies.</p> Signup and view all the answers

What can careful inspection of a population at risk for spinal dysraphism reveal?

<p>Subtle cutaneous stigmata.</p> Signup and view all the answers

What is the primary concern regarding midline skin anomalies in newborns?

<p>They may indicate occult spinal dysraphism.</p> Signup and view all the answers

What specific skin markings should pediatricians look for during an examination for spinal dysraphism?

<p>Pediatricians should look for spinal dimples, abnormal hair growth, asymmetric gluteal creases, and dermal sinuses.</p> Signup and view all the answers

How does the identification of suspicious lesions help in the context of spinal dysraphism?

<p>It reduces the risk of neurological and orthopedic dysfunction.</p> Signup and view all the answers

What can be a consequence of failing to recognize cutaneous markers of spinal dysraphism in infants?

<p>It can lead to delayed diagnosis and increased risk of complications.</p> Signup and view all the answers

What is the significance of cutaneous stigmata in diagnosing congenital neurologic malformations?

<p>Cutaneous stigmata serve as visible indicators of potential underlying spinal issues.</p> Signup and view all the answers

Why is an ultrasonographic examination recommended for infants with cutaneous markers?

<p>It helps in identifying any underlying spinal abnormalities.</p> Signup and view all the answers

What role do dermal sinuses and capillary hemangiomas play in the assessment of spinal dysraphism?

<p>They are potential cutaneous markers that may correlate with spinal dysraphism.</p> Signup and view all the answers

What is the prevalence of spina bifida associated with occult spinal dysraphism?

<p>Spina bifida is one of the common outcomes linked to untreated occult spinal dysraphism.</p> Signup and view all the answers

What is the significance of increased pressure in spinal fluid concerning pediatric care?

<p>Increased pressure can interfere with spinal repair integrity.</p> Signup and view all the answers

What is the commonly used treatment procedure for managing increased spinal fluid pressure?

<p>The most commonly used treatment is a ventriculoperitoneal shunt.</p> Signup and view all the answers

At what gestational weeks is the optimal time for performing amniocentesis?

<p>The optimal time for amniocentesis is between 14 to 16 weeks gestation.</p> Signup and view all the answers

Why is psychosocial support important for families in pediatric neurological care?

<p>Psychosocial support is essential for providing continuous guidance through medical issues.</p> Signup and view all the answers

How does maternal serum analysis relate to neurodevelopmental outcomes in children?

<p>Maternal serum analysis allows for the screening of potential neural tube defects, thereby influencing neurodevelopmental outcomes.</p> Signup and view all the answers

What role do surgical interventions play in the management of orthopedic complications related to pediatric conditions?

<p>Surgical interventions are critical for correcting orthopedic complications and supporting proper bone development.</p> Signup and view all the answers

What is one of the key ethical considerations when discussing surgical interventions for pediatric patients?

<p>One key consideration is obtaining informed consent from guardians while ensuring the child's best interests.</p> Signup and view all the answers

What importance does the measurement of Alpha-fetoprotein serve in prenatal care?

<p>Alpha-fetoprotein screening helps in assessing risks for neural tube defects in the developing fetus.</p> Signup and view all the answers

What role does alpha-fetoprotein play in prenatal screening?

<p>Alpha-fetoprotein is a biomarker used in prenatal screenings to help detect neural tube defects.</p> Signup and view all the answers

How can orthopedic complications arise in patients with myelomeningocele?

<p>Patients with myelomeningocele may experience orthopedic complications like kyphosis due to spinal deformities.</p> Signup and view all the answers

What is the significance of maternal serum alpha-fetoprotein levels?

<p>Maternal serum alpha-fetoprotein levels provide valuable information for assessing fetal health and the risk of neural tube defects.</p> Signup and view all the answers

What potential neurodevelopmental outcomes are linked to elevated alpha-fetoprotein levels?

<p>Elevated alpha-fetoprotein levels can indicate an increased risk of neurodevelopmental disorders in the fetus.</p> Signup and view all the answers

What surgical interventions may be necessary for kyphosis in myelomeningocele patients?

<p>Surgical interventions for kyphosis may include spinal stabilization and corrective surgery.</p> Signup and view all the answers

What is a potential risk of failing to address elevated maternal serum alpha-fetoprotein levels?

<p>Failure to address elevated alpha-fetoprotein levels may lead to undetected neural tube defects and associated complications.</p> Signup and view all the answers

What is the significance of alpha-fetoprotein (AFP) screening in the context of maternal serum analysis?

<p>AFP screening is important for detecting fetal abnormalities and can indicate the presence of conditions such as neural tube defects.</p> Signup and view all the answers

How might orthopedic complications relate to congenital conditions identified through maternal serum analysis?

<p>Orthopedic complications can arise from conditions like omphalocele or Turner’s syndrome detected during maternal serum screening, leading to structural anomalies.</p> Signup and view all the answers

How do prenatal screening guidelines aim to manage the risk of fetal defects?

<p>Prenatal screening guidelines are developed to triage high-risk pregnancies and coordinate treatment options.</p> Signup and view all the answers

What potential neurodevelopmental outcomes can arise for infants with congenital conditions identified during pregnancy?

<p>Infants with congenital conditions may face various neurodevelopmental challenges, such as cognitive delays or motor impairments, affecting their overall development.</p> Signup and view all the answers

What factors can influence the effectiveness of surgical interventions for orthopedic deformities?

<p>Factors such as the age of the patient, severity of the deformity, and overall health can influence surgical intervention effectiveness.</p> Signup and view all the answers

In what ways do surgical interventions play a role in managing conditions diagnosed through AFP screening?

<p>Surgical interventions can correct or manage conditions like esophageal or duodenal atresia, improving outcomes for infants diagnosed through AFP screening.</p> Signup and view all the answers

How does the presence of false-positive results in maternal serum screenings affect clinical management?

<p>False-positive results may lead to unnecessary anxiety and further invasive testing for parents, requiring careful counseling and management by healthcare providers.</p> Signup and view all the answers

What are some immediate concerns for newborns diagnosed with conditions like congenital nephrosis or fetal distress?

<p>Immediate concerns include managing potential complications such as renal failure or respiratory issues, necessitating urgent medical intervention.</p> Signup and view all the answers

What role does comprehensive counseling play for parents based on maternal serum analysis results?

<p>Comprehensive counseling helps parents understand the implications of serum analysis results, ensuring they are informed about their options and support resources.</p> Signup and view all the answers

Why is the assessment for reflux important in the context of upper urinary tract dilation detected during screening?

<p>Assessment for reflux is crucial as it can impact renal function and overall health outcomes, guiding possible surgical management as needed.</p> Signup and view all the answers

Flashcards

Neural Tube Defects (NTDs)

Common birth defects that cause infant mortality and disability.

Folic Acid Recommendation

USPHS recommends 400mg of folic acid daily for women of childbearing age.

Prevention Gap

A large number of women aren't meeting the recommended dose of folic acid.

NTDs Prevention

Preventable with daily folic acid intake during childbearing years.

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Unplanned Pregnancies

Contributing factor in the need for consistent folic acid intake.

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Neural Tube Closure

Critical process occurring in the early weeks of pregnancy.

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USPHS Recommendation

A public health service recommendation for daily folic acid intake during pregnancy.

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Folic Acid Intake

A crucial aspect of prenatal health that prevents NTDs.

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Folic acid dosage for NTD prevention

A daily dosage of 4000 mg of folic acid, alongside dietary folate, before and during early pregnancy, significantly reduces Neural Tube Defects (NTDs) recurrence by 71%.

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NTD Reduction

71% reduction in recurrence of Neural Tube Defects (NTDs) with high-dose folic acid.

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Additional vitamins with folic acid

Adding other vitamins to high-dose folic acid did not further reduce the risk of NTDs.

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Multivitamins without folic acid

Using multivitamins without folic acid does not reduce the risk of NTDs.

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Lower folic acid dosage study

The MRC study did not explore potential benefits of lower folic acid dosages than 4000 mg.

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360 mg daily folic acid

A lower dosage of 360 mg of folic acid daily showed a similar reduction in NTD recurrence rate in a nonrandomized UK study.

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USPHS and CDC recommendations

The US Public Health Service and Centers for Disease Control and Prevention (CDC) have developed recommendations for NTD prevention based on evidence.

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Evidence evolution for folic acid prevention

The evidence for folic acid in preventing NTDs has changed over time, leading to two separate recommendations for different situations.

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Folic acid's effect on B12 deficiency

Folic acid does not prevent the neurological problems caused by a lack of vitamin B12.

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USPHS recommendation for folate intake

The US Public Health Service (USPHS) recommended a daily folic acid intake limit of less than 1000 mg.

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IOM tolerable upper intake limit

The Institute of Medicine (IOM) set a limit of 1000 mg of synthetic folic acid per day.

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NTDs risk & folic acid

Folic acid use doesn't entirely eliminate the risk of Neural Tube Defects (NTDs).

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Prenatal screening for NTDs

Routine prenatal testing for NTDs is still advised.

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Folic acid for NTD history

Women with a prior NTD pregnancy should consider 4000 mg folic acid daily, especially before pregnancy.

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Folic acid safety studies

Definitive studies on maternal and fetal safety of folic acid are not available.

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Pernicious anemia and folic acid

Pernicious anemia is rarely seen in women of childbearing age.

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Folic Acid

A B vitamin important for preventing NTDs and other birth defects during pregnancy.

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Increased Folic Acid Intake

Taking more than the recommended daily amount of folic acid, specifically during periconceptional period.

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Relatives with NTDs

Having a family member (sibling, niece, or nephew) with an NTD significantly increases the risk for a woman.

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Type 1 Diabetes Mellitus

A type of diabetes that increases the risk of a pregnant woman having a child with an NTD.

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Valproic Acid or Carbamazepine

Medications for seizure disorders that increase the risk of NTD in the baby if the pregnant mother is using them.

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Periconceptional Folic Acid Intake

Intake of folic acid in the period around conception.

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Physician Consultation

Essential for discussing pregnancy risks and necessary folic acid intake adjustments (if any).

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Folic Acid Fortification

Adding folic acid to certain foods to increase its consumption.

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Vitamin B12

A vitamin important for health, especially during pregnancy.

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Vitamin A and Birth Defects

Excess vitamin A during pregnancy can lead to birth defects.

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Emery and Rimoin’s Principles and Practice of Medical Genetics

A comprehensive textbook covering various aspects of medical genetics.

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Folic Acid Supplementation

Taking folic acid through supplements, fortified foods, or both to prevent neural tube defects (NTDs).

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Food Fortification

Adding folic acid to staple foods like grains to ensure widespread access and intake.

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Surveillance

Tracking the effectiveness and side effects of folic acid recommendations to refine the dosage and strategies.

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Spina Bifida

A common NTD where the spinal cord doesn't close properly, causing physical challenges.

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IOM Recommendation

The Institute of Medicine recommends 400mg of folic acid daily for all women capable of becoming pregnant.

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Unintended Pregnancy

A pregnancy that was not planned, often leading to insufficient folic acid intake.

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Adverse Outcomes

Negative consequences that might arise from folic acid supplementation.

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Increased Folic Acid for NTD History

For women who have previously had a pregnancy affected by an NTD, the CDC recommends increasing folic acid intake to 4000 mcg per day beginning at least one month before conception and continuing through the first trimester.

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NTD Prevention Effectiveness

Studies show that periconceptional folic acid supplementation can prevent 50% or more of NTDs like spina bifida and anencephaly.

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Who Benefits Most from Folic Acid?

95% of children born with NTDs are born to couples with no family history of these defects, highlighting the importance of folic acid for everyone.

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Folic Acid's Role in NTD Prevention

Taking a multivitamin containing 400 mcg of folic acid before conception and continuing through the first trimester can prevent 50% of NTDs.

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NTD Prevention: How Much Folic Acid?

The USPHS recommends 400 mcg of folic acid daily for all women capable of becoming pregnant.

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Folic Acid Intake and NTD Recurrence

For women with a previous NTD-affected pregnancy, increasing folic acid intake to 4000 mcg per day can reduce NTD recurrence by 71%.

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Folic Acid Supplement vs. Multivitamin

Multivitamins containing folic acid are effective in NTD prevention, but additional vitamins beyond folic acid don't further reduce the risk.

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Importance of Early Intake

Taking folic acid before and during early pregnancy is most crucial because NTDs develop in the first weeks.

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Primary Prevention

Preventing NTDs before they occur by ensuring women take enough folic acid.

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Additional Vitamins and NTD Risk

Adding other vitamins to high-dose folic acid did not further reduce the risk of NTDs.

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Evidence Evolution for Folic Acid

The evidence for folic acid's role in preventing NTDs has changed over time, resulting in two separate recommendations for different situations.

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Two Folic Acid Recommendations

There are two separate recommendations for folic acid intake: one for women with no history of NTD-affected pregnancy and one for women with a previous NTD-affected pregnancy.

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Anencephaly

A severe birth defect where a significant portion of the brain is missing.

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Periconceptional Period

The time period around conception, including a few months before and a few weeks after.

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Increased Folic Acid Dosage

For women with a previous pregnancy affected by an NTD, the CDC recommends 4000 mcg of folic acid daily.

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Folic Acid for NTDs

Taking folic acid supplements before and during early pregnancy can significantly reduce the risk of Neural Tube Defects (NTDs), such as spina bifida and anencephaly.

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Recommended Folic Acid Intake

The USPHS recommends 400 mcg of folic acid daily for all women capable of becoming pregnant.

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Folic Acid and Unintended Pregnancies

Many unintended pregnancies occur, making consistent folic acid intake crucial for all women of childbearing age.

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Surveillance of Folic Acid Effectiveness

Tracking the effectiveness and side effects of folic acid recommendations helps refine the dosage and strategies for optimal NTD prevention.

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Folic Acid's Role

Folic acid helps prevent NTDs by ensuring proper development of the baby's spinal cord during the early stages of pregnancy.

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Folic Acid for Prevention

The US Public Health Service (USPHS) advises all women of childbearing age to consume 400 mcg of folic acid daily to help prevent neural tube defects (NTDs) in their babies.

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Why Boost Folic Acid?

Taking 4000 mcg of folic acid daily before and during early pregnancy significantly lowers the chance of Neural Tube Defects (NTDs) for women who have had an NTD-affected pregnancy.

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Folic Acid vs. Food Folate

Folic acid supplements are more effective at increasing blood folate levels than consuming naturally occurring folate from food.

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Folic Acid and B12 Deficiency

High doses of folic acid can mask a vitamin B12 deficiency, which could be a crucial clue for proper diagnosis.

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Unplanned Pregnancies and Folic Acid

The high rate of unplanned pregnancies in the US emphasizes the importance of consistent folic acid intake for all women of childbearing age.

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Folic Acid Safety

Although folic acid has no known toxicity, there is a lack of definitive studies on its maternal and fetal safety in high doses.

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Folic Acid and Other Vitamins

While multivitamins containing folic acid are beneficial for NTD prevention, adding more vitamins beyond folic acid does not offer further protection.

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Occult Spinal Dysraphism (OSD)

A type of neural tube defect where the spinal cord doesn't close completely, but is covered by skin. It often involves skin abnormalities and can cause neurologic impairments.

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Split Cord Malformation

A type of OSD where the spinal cord is divided into two parts. This can lead to various neurologic problems depending on the severity.

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Dermal Sinus Tract

A skin-covered opening that connects to the spinal cord. It can increase the risk of infection and complications.

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Tethered Spinal Cord

When the spinal cord is attached to the lower back, restricting its movement and causing problems like pain, weakness, and bowel/bladder issues.

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Intraspinal Lipoma

A fatty tumor located within the spinal canal, potentially affecting the spinal cord and causing neurological issues.

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What's the difference between Spina Bifida Occulta (SBO) and Occult Spinal Dysraphisms (OSDs)?

SBO is a minor bone fusion issue, usually harmless. OSDs involve a hidden spinal cord defect with potential neurologic damage, often with skin abnormalities.

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How are OSDs diagnosed?

OSDs are often diagnosed when a dimple is found in the lower spine/sacral region. However, they may go undetected until later in life.

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What are the signs of an OSD?

Symptoms can include paresis (weakness), spasticity, sensory disturbances, orthopedic deformities, and bowel/bladder dysfunction.

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Spinal cord tethering

A condition where the spinal cord is attached to surrounding tissues, preventing normal growth and function.

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Early neurosurgical intervention

Surgical treatment for spinal cord tethering performed early in life to prevent or lessen the severity of neurological problems.

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Neurological deficits

Impairments in the nervous system's ability to function, including problems with movement, sensation, and bowel/bladder control.

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Midline skin anomalies

Abnormalities in the skin located along the center of the body, often indicating underlying spinal cord issues.

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Cutaneous stigmata

Visible skin marks or signs that suggest an underlying medical condition, especially in the case of spinal cord problems.

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Pediatrician's role in detecting spinal cord issues

Pediatricians play a vital role in identifying subtle signs of spinal cord problems, aiming for early intervention and better outcomes.

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Importance of vigilance for spinal cord tethering

A proactive approach is crucial for early detection of spinal cord tethering, as it can lead to significant neurological problems if left untreated.

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Spinal cord tethering and neurological deficits

Tethering of the spinal cord can restrict its growth and lead to a range of neurological problems, such as weakness, bowel/bladder dysfunction, and pain.

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Why are midline skin anomalies important?

They are important because they can be early signs of OSD, a serious birth defect that can affect the brain, bladder, and legs.

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What to look for in newborns?

Look for dimples, unusual hair growth, skin tags, or other markings along the spine.

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Dermal Sinuses

Small openings in the skin that connect to a cavity or tunnel, often found along the spine, which may indicate a deeper underlying issue.

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Coccygeal Pits

Depressions, or small holes, near the tailbone, may be associated with spina bifida or other spinal cord problems.

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Ultrasound for OSD

Ultrasound can help visualize the spinal cord in newborns with potential skin anomalies, aiding in the diagnosis of OSD.

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Importance of Early Diagnosis

Early diagnosis of OSD is crucial because it allows for timely intervention and reduces the risk of long-term complications.

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Kyphosis

An abnormal outward curvature of the spine, often seen in patients with myelomeningocele.

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Myelomeningocele

A serious birth defect where the spinal cord doesn't close properly, resulting in a sac-like protrusion.

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False-positive Results

When a test incorrectly identifies a condition as being present.

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Alpha-feto-protein

A protein found in the blood of pregnant women that can be used to screen for neural tube defects.

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Prenatal Detection

Identifying a condition before the baby is born.

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Triage

The process of sorting and classifying patients based on their severity of illness or injury.

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Neural Tube Defects

Birth defects that occur when the neural tube, which develops into the brain and spinal cord, doesn't close completely.

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Vigorous Treatment

Intensive medical care and interventions, often needed for serious conditions.

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Pediatrician's Role

Pediatricians play a vital role in identifying subtle signs of spinal cord problems, aiming for early intervention and better outcomes.

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Importance of Vigilance

A proactive approach is crucial for early detection of spinal cord tethering, as it can lead to significant neurological problems if left untreated.

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What makes managing neural tube defects challenging?

Neural tube defects (NTDs) are difficult to manage due to their variable severity, the constant risk of infection and reflux, and the social impact of complications like incontinence.

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Why are false-positive results a concern in NTD diagnosis?

False-positive results can occur due to the presence of various conditions that mimic NTDs, leading to unnecessary anxiety and potentially invasive tests.

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What are some conditions that mimic NTDs?

Conditions like omphalocele, Turner’s syndrome, congenital nephrosis, duodenal atresia, esophageal atresia, fetal distress, fetal death, erythroblastosis, and maternal liver disease can all display similar symptoms to NTDs.

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What is the current approach to managing NTDs?

Management of NTDs is conservative, focusing on treating infections, periodically assessing for reflux, and dilating the upper urinary tract.

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Why is counseling important for NTD patients and families?

Counseling helps families cope with the social and emotional challenges associated with NTDs, such as incontinence and the need for repeated hospitalizations.

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What is the Credé maneuver?

The Credé maneuver is a technique used to help empty the bladder, but studies have shown it to be ineffective in managing NTDs.

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What is the significance of folic acid in NTD prevention?

Folic acid supplementation during pregnancy significantly reduces the risk of NTDs, highlighting the importance of prenatal folic acid intake for all women.

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What is the recommended daily intake of folic acid?

The USPHS recommends 400 mcg of folic acid daily for all women capable of becoming pregnant.

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Study Notes

Folic Acid for the Prevention of Neural Tube Defects

  • Folic acid consumption (400 µg daily) is recommended for all women capable of becoming pregnant to prevent neural tube defects (NTDs).
  • Studies show folic acid can prevent 50% or more of NTDs like spina bifida and anencephaly.
  • For women with a history of NTD-affected pregnancies, the CDC recommends a higher intake (4000 µg daily) at least one month before conception and throughout the first trimester.
  • NTDs are common birth defects causing infant mortality and disability, occurring in approximately 1 in 1000 births in the US.
  • About 2500 infants are born with NTDs each year.
  • Periconceptional folic acid supplementation can prevent over half of NTDs.
  • USPHS and CDC recommendations were developed based on multiple studies demonstrating the prevention of NTDs.
  • Approximately half of US pregnancies are unplanned, and neural tube closure occurs during the first four weeks of gestation.
  • Despite recommendations from September 1992, only 30% of women aged 18-45 follow them in 1998.
  • The recurrence risk for NTDs in subsequent pregnancies of women with a previous affected child is 2-3%.
  • A 1991 Medical Research Council (MRC) trial conclusively demonstrated that 4000 µg of folic acid significantly reduced NTD recurrence by 71%.
  • A UK study suggested a possible comparable reduction with a lower dosage (360 µg daily), but this was not a randomized controlled trial.
  • No adverse maternal or fetal effects from 4000 µg folic acid were detected in a large study.
  • Folic acid is a synthetic compound, and the term "folate" encompasses naturally occurring similar compounds.
  • Average US diets contain 200 µg of naturally occurring folate, which is less bioavailable than folic acid.
  • Increased consumption of food folate hasn't been proven as effective as folic acid supplements in NTD prevention.
  • Folic acid has no known toxicity.
  • A higher dose can correct vitamin B12 deficiency anemia but doesn't prevent the neurologic consequences of vitamin B12 deficiency. A safe upper limit is 1000 µg (synthetic folic acid) daily.
  • Most multivitamin preparations contain 400 µg folic acid, and folic acid tablets are available over the counter in dosages up to 800 µg. 1000 µg tablets are prescription-only.
  • Enriched cereal-grain products are mandated to be fortified with 140 µg folic acid per 100g of flour.
  • The recommendation advises women to consume 400 µg of folic acid daily via multivitamins or folic acid supplements in addition to a healthy diet.
  • Women with a prior NTD-affected pregnancy should consume 4000 µg daily starting one month prior to planned pregnancy and throughout the first 3 months.

Recommendations

  • Women with no prior NTD-affected pregnancy: Consume 400 µg folic acid daily, preferably in a multivitamin.
  • Women with prior NTD-affected pregnancy: Consume 4000 µg folic acid daily, 1 month before conception and throughout the first 3 months.
  • Other high-risk groups: Consult with a physician regarding potential risks and benefits of increased folic acid intake. This includes close relatives with NTDs, type 1 diabetes, or seizure disorders.

Public Health Programs (Additional Considerations)

  • Educational programs, food fortification, and monitoring programs are needed to implement and maintain folic acid recommendations effectively.

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Neural Tube Defects PDF

Description

This quiz covers the vital role of folic acid in preventing neural tube defects (NTDs) in pregnant women. It discusses recommended dosages, the impact of supplementation on NTD occurrence, and the CDC guidelines for women with a history of NTD-affected pregnancies. Understanding these facts is crucial for promoting maternal and infant health.

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