SlideShare a Scribd company logo

spina bifida presentation

•Download as PPTX, PDF•
•
N
NiloferKhatri

Spina bifida is a congenital abnormality arising due to defects in the process of neural tube closure. It also occurs due to folic acid deficiency during pregnancy. Here we describe the etiology, epidemiology, clinical manifestations, types, treatments and preventions of spina bifida.

1 of 15
SPINA BIFIDA Nilofer Khatri
INTRODUCTION Spina Bifida is a congenital anomaly that arises from incomplete development of the neural tube. It may also refer to any degree of defect in neural tube closure. It can be further subdivided into Spina bifida Occulta and Spina bifida Aperta. • Spina bifida Occulta or closed spinal dysraphism • Spina bifida Aperta or open spinal dysraphism
NEURULATION It is the process of neural tube formation. Normally occurs between 17 and 30 days of gestation. The process of neuralization occurs in two phases • Primary neuralization refers to the closure of the neural tube forming the brain and spinal cord. • Secondary neuralization involves the formation of the caudal structures of the neural tube forming the sacral and coccygeal portion. A defect in neural tube closure causes spina bifida.
spina bifida presentation
WHAT CAUSES DEFECTS IN NEURAL TUBE CLOSURE? Multifactorial factors including environmental and genetic influences neural tube closure. Genetic factors ● Polymorphism of the gene encoding the MTHFR enzyme (1p36. 6) involved in folate metabolism ● Trisomy 13 and 18 ● Family history of neural tube defects
Environmental factors • Folate deficiency or folic acid-sensitivity • Maternal obesity • Maternal diabetes • Exposure to teratogens such as valproic acid (Valproic acid has the highest association with development of NTDs) • Hyperthermia in the early weeks of pregnancy
EPIDEMIOLOGY • Affects an estimated 1 in 2,500 newborns worldwide. • Four out of every 1,000 children born in India have spina bifida. • Hispanic women seem to have a high rate of pregnancies affected by NTD. • There is an increased risk of recurrence of about 3-8% after one affected pregnancy or maternal history of the defect.
TYPES OF SPINA BIFIDA There are two major types of spina bifida: • Spina bifida Occulta • Spina bifida Aperta - It could be further divided into meningocele and myelomeningocele
SPINA BIFIDA OCCULTA • Occulta is the mildest and most common form in which one or more bones of the vertebral column are malformed. • They may have a dimple, patch of hair, or a red mark at the base of the spine. • Usually doesn't cause symptoms. • Most people with spina bifida occulta do not need medical treatment.
MENINGOCELE • Meningocele is a rare type of spina bifida. • It occurs when the meninges protrude through the spine and cause a sac of spinal fluid on the back. • The malformation contains no nerves and may or may not be covered by a layer of skin. • Individuals may have minor symptoms and problems with bladder and bowel function. • A baby born with a meningocele require surgery.
MYELOMENINGOCELE Myelomeningocele is the most severe form of spina bifida. A portion of the spinal cord or nerves are exposed in a sac through an opening in the spine that may or may not be covered by the meninges. The symptoms of myelomeningocele are - • Weakness, loss of feeling, or trouble moving lower body parts • Problems with bladder and bowel control • Hydrocephaly • Problem with cerebral structure formation • Learning problems • Seizures Ventricular shunts are used to treat these babies.
DIAGNOSING SPINA BIFIDA Diagnosed prenatally or postnatally • Prenatal diagnosis - • Maternal serum alpha fetoprotein screen at 16 to 18 weeks of pregnancy • Ultrasound during the first trimester and the second trimester • Amniocentesis • Postnatal diagnosis - • Ultrasound • X-ray imaging of the spine • MRI and CT Scan for better visualization of spinal cord and vertebrae.
Prenatal Surgery – In utero surgery to close the opening of spinal cord before the 26th week of pregnancy. Postnatal Surgery - Surgery within the first few days of life to close the defect. TREATMENT PREVENTION Diet rich in folic acid before and during early pregnancy. Daily supplement of 400 micrograms (mcg) of folic acid. Consumption of foods rich in folic acid - Dark green, leafy vegetables, egg yolks, fruits (banana, citrus, papaya)
REFERENCES Brea CM, Munakomi S. Spina Bifida. [Updated 2022 Aug 9]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559265/ Spina Bifida. (2023, January 27). National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health- information/disorders/spina-bifida Ferri FF. Spina bifida. In: Ferri's Clinical Advisor 2020. Elsevier; 2020. Dukhovny S, et al. Open neural tube defects: Risk factors, prenatal screening and diagnosis, and pregnancy management.
THANK YOU

More Related Content

spina bifida presentation

  • 2. INTRODUCTION Spina Bifida is a congenital anomaly that arises from incomplete development of the neural tube. It may also refer to any degree of defect in neural tube closure. It can be further subdivided into Spina bifida Occulta and Spina bifida Aperta. • Spina bifida Occulta or closed spinal dysraphism • Spina bifida Aperta or open spinal dysraphism
  • 3. NEURULATION It is the process of neural tube formation. Normally occurs between 17 and 30 days of gestation. The process of neuralization occurs in two phases • Primary neuralization refers to the closure of the neural tube forming the brain and spinal cord. • Secondary neuralization involves the formation of the caudal structures of the neural tube forming the sacral and coccygeal portion. A defect in neural tube closure causes spina bifida.
  • 5. WHAT CAUSES DEFECTS IN NEURAL TUBE CLOSURE? Multifactorial factors including environmental and genetic influences neural tube closure. Genetic factors ● Polymorphism of the gene encoding the MTHFR enzyme (1p36. 6) involved in folate metabolism ● Trisomy 13 and 18 ● Family history of neural tube defects
  • 6. Environmental factors • Folate deficiency or folic acid-sensitivity • Maternal obesity • Maternal diabetes • Exposure to teratogens such as valproic acid (Valproic acid has the highest association with development of NTDs) • Hyperthermia in the early weeks of pregnancy
  • 7. EPIDEMIOLOGY • Affects an estimated 1 in 2,500 newborns worldwide. • Four out of every 1,000 children born in India have spina bifida. • Hispanic women seem to have a high rate of pregnancies affected by NTD. • There is an increased risk of recurrence of about 3-8% after one affected pregnancy or maternal history of the defect.
  • 8. TYPES OF SPINA BIFIDA There are two major types of spina bifida: • Spina bifida Occulta • Spina bifida Aperta - It could be further divided into meningocele and myelomeningocele
  • 9. SPINA BIFIDA OCCULTA • Occulta is the mildest and most common form in which one or more bones of the vertebral column are malformed. • They may have a dimple, patch of hair, or a red mark at the base of the spine. • Usually doesn't cause symptoms. • Most people with spina bifida occulta do not need medical treatment.
  • 10. MENINGOCELE • Meningocele is a rare type of spina bifida. • It occurs when the meninges protrude through the spine and cause a sac of spinal fluid on the back. • The malformation contains no nerves and may or may not be covered by a layer of skin. • Individuals may have minor symptoms and problems with bladder and bowel function. • A baby born with a meningocele require surgery.
  • 11. MYELOMENINGOCELE Myelomeningocele is the most severe form of spina bifida. A portion of the spinal cord or nerves are exposed in a sac through an opening in the spine that may or may not be covered by the meninges. The symptoms of myelomeningocele are - • Weakness, loss of feeling, or trouble moving lower body parts • Problems with bladder and bowel control • Hydrocephaly • Problem with cerebral structure formation • Learning problems • Seizures Ventricular shunts are used to treat these babies.
  • 12. DIAGNOSING SPINA BIFIDA Diagnosed prenatally or postnatally • Prenatal diagnosis - • Maternal serum alpha fetoprotein screen at 16 to 18 weeks of pregnancy • Ultrasound during the first trimester and the second trimester • Amniocentesis • Postnatal diagnosis - • Ultrasound • X-ray imaging of the spine • MRI and CT Scan for better visualization of spinal cord and vertebrae.
  • 13. Prenatal Surgery – In utero surgery to close the opening of spinal cord before the 26th week of pregnancy. Postnatal Surgery - Surgery within the first few days of life to close the defect. TREATMENT PREVENTION Diet rich in folic acid before and during early pregnancy. Daily supplement of 400 micrograms (mcg) of folic acid. Consumption of foods rich in folic acid - Dark green, leafy vegetables, egg yolks, fruits (banana, citrus, papaya)
  • 14. REFERENCES Brea CM, Munakomi S. Spina Bifida. [Updated 2022 Aug 9]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559265/ Spina Bifida. (2023, January 27). National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health- information/disorders/spina-bifida Ferri FF. Spina bifida. In: Ferri's Clinical Advisor 2020. Elsevier; 2020. Dukhovny S, et al. Open neural tube defects: Risk factors, prenatal screening and diagnosis, and pregnancy management.