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LO 18- Revise TOP - Policy and legislation, old vs new acts

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A neural tube defect is a failure of the closure of the neural tube. May occur at various levels of neural tube

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Drugs/substances which can be aetiological factors in congenital abnormalities. Embryology lecture

Drugs that Deplete: Vitamin B9 (Folic Acid)

1. Antacids (Miscellaneous Preparations)
2. Anti-Inflammatory Medications (5-Aminosalicylic Acid Derivatives Inhalant, Systemic, and Topical Corticosteroids Nonsteroidal Anti-inflammatory Drugs (NSAIDs) Salicylates)
3. Antibiotic Medications (Antibiotic Combination: Sulfa drugs Cephalosporins Macrolides Penicillin Derivatives Quinolones Tetracycline Derivatives)
4. Anticonvulsant Medications (Barbiturates Hydantoin Derivatives Miscellaneous Valproic Acid Derivatives)
5. Antidiabetic Medications (Biguanides)
6. Birth Control Medications (Monophasic, Biphasic, and Triphasic Preparations)
7. Cholesterol-Lowering Medications (Bile Acid Sequestrants)
8. Diuretics (Potassium-Sparing Diuretics)
9. Ulcer Medications (Histamine H2 Antagonists)

Why folic acid?
- Essential for DNA synthesis and erythropoiesis (along with vitamin B12)
- Production of haeme, energy, essential amino acids, recycling homocysteine
- Especially important during pregnancy (development of fetal proteins, energy and blood)
- Our bodies cannot produce it, therefore it can only be acquired from the diet

*Recommended daily dose - 400 - 800mg

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Report back and evaluate

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Receive and examine LOs

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Describe connections and prioritize limitations

Connections:
- Raised AFP - linked to cyst
- Raw lump o/e links to ultrasound
- Folate, poor diet in mother - puts baby at risk for NTD
- Advanced maternal age and increased risk of NTD

Limitations:
- Already on folate and continued with supplementation yet child still had defect: not all NTD prevented by folate supplementation
- What subset of NTD have a genetic predisposition and what genes are involved

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Prior Knowledge and identifying gaps

Prior Knowledge:
we know the importance of folic acid
Folic acid is essential in DNA synthesis and the recycling of homocystenine in order to facilitate neurotransmitter production (CNS preservation).
Spina bifida is increased in patients who do not take folic acid tablets, it is essential for all pregnant women to take them.
Vegans are at higher risk of folic acid deficiencies because most folate comes from meat and meat products.
Folic acid and vitamin B12 deficiency can affect RBC production and function, leading to megaloblastic anaemia
AFP is one of the proteins that can be used to screen for congenital anomalies/disorders during pregnancy

Gaps
- How is it possible for a child to have spina bifida even if their mother was on folate supplements?
- Does Spina Bifida have a genetic predisposition?

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Folic acid supplementation

Perform tests: pregnancy screening @ 16 weeks of gestation

Counselling given about condition- including termination of pregnancy

Caesarian section is performed at 38 weeks gestation

Immediate and long-term options discussed with paediatrician  to manage bowed legs

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Clinical (Refilwe)
- 36 year-old Female
- Has 2 children, planning the 3rd
- Missed 1 period, pregnancy confirmed, continued folic acid supplements
- 8 week dating scan is normal, 1st trimester scan reveals midline cystic mass overlying vertebral column (lumbar region) - spina bifida cystica suspected
- Blood test at 16 weeks show increased AFP
- C-section scheduled for 38 weeks
- Birth - large raw lump on lower back, bowed legs, bilaterally twisted feet
- Nerve involvement in lower limb

Individual (Mulisa)
- Parents anxious about being able to afford their child's care (fears)
- The child might struggle with day-to-day activities due to condition (loss of function)

Contextual (Hannah)
- Upon ultrasound, normal size, site as well as liquid amount.
- Midline cyst overlying vertebral column in lumbrosacral region noted upon ultrasound
- Spina Bifida Cystica has been diagnosed by the doctor, abortion has been offered as a form of treatment

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- Ultrasound at 8 weeks , foetus is normal.
- Ultrasound @end of 1st trimester images reveal a small midline cystic mass overlying the vertebral column in the lumbosacral region
- @week 16, lab tests show raised alpha-feto-protein (AFP)
-  defect in the baby’s vertebral column(“spina bifida cystica”)
-raised alpha- feto-protein (AFP).
-a Caesarian section is performed at 38 weeks gestation.

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- Jakoba van Tonder , 36 year old female lawyer
- lives with her husband ( 48 y/o) and 2 children in durbanville
- the couple tried for a 3rd child and were made aware of the risks
- conceived their 3rd child and kept on folic supplementation

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Identify key issues using soap

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Dating scan - an ultrasound exam in order to establish the gestational stage of the pregnancy.
Nuchal transluency - a measurement of the size of the transluent space during and fluid under the skin during an ultrasound. Test for doen syndrome
Spina bifida cystica - a bony defect in the spinal column that causes a cleft in the spinal column
Alpha-feto protein - protein produced by liver in foetus. High levels indicative of a NTD

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Mrs Jakoba van Tonder is a 36-year-old lawyer from Durbanville. She and her 48-year-old husband have two healthy children of school-going age. When they were deciding on having a third child, their gynaecologist, Dr Lombard advised them not to wait too long, explaining that the risk of congenital anomalies increases with advancing maternal age.

After missing one menstrual period Mrs van Tonder performs a pregnancy test and is thrilled to know that she is pregnant. Dr Lombard advises her to continue with folic acid supplementation that she had started prior to conception and to attend all her antenatal visits. Dr Lombard based this advice on the results of various randomized controlled trials and a systematic review that demonstrated the efficacy of administering folate supplements to periconceptual women. At eight weeks of gestation, she has a “dating scan” performed by ultrasound in order to visualise the fetus and its surrounding membranes. The size of the fetus, site of the placenta and the amount of liquor appear normal. Towards the end of her first trimester, a repeat ultrasound is performed to check nuchal translucency. The images reveal a small midline cystic mass overlying the vertebral column in the lumbosacral region. Once Dr Lombard sees these results he explains to the van Tonders that there is a defect in the baby’s vertebral column, which he calls “spina bifida cystica”. He counsels the couple on their options, including termination of pregnancy. He felt it necessary to advise them that if they choose this option that he will refer them to another doctor as he does not perform abortions. He felt it necessary to advise them that if they choose this option that he will refer them to another doctor as he does not perform abortions. The couple decide to continue with the pregnancy.

Dr Lombard explains that further tests need to be performed and at 16 weeks of gestation, blood is drawn from Mrs van Tonder and for various laboratory tests. The results show a raised alpha- feto-protein (AFP). The pregnancy continues uneventfully and at the advice of Dr Lombard, a Caesarian section is performed at 38 weeks gestation. On the birth of the baby the parents see a large “raw” lump protruding from their baby’s lower back. The also notice that the baby’s legs are bowed and that both feet are twisted inwards. The paediatrician explains to them that there is nerve involvement of the lower limbs and discusses the immediate and long-term options. Even though Mrs Van Tonder earns a good salary, she and her husband are anxious because these treatment options will involve high, long-term medical costs.