10. Fetal abnormalities Flashcards

1
Q

Developmental defects detected at birth

A

2.4%

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2
Q

Developmental defects detected in infancy and childhood

A

2.5%

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3
Q

Causes of Developmental defects

A

Genes=25%

Teratogens= 10%

Unknown= 65%

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4
Q

biological teratogenic agent

A

Rubella (German Measles)

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5
Q

Physical teratogenic agent

A

x-rays

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6
Q

Chemical teratogenic agent

A

thalidomide

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7
Q

Pre-implantation Diagnosis

A

IVF

FISH

PCR

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8
Q

Post Implantation Diagnosis

A

Maternal Blood Biochemistry (MBB)

Chorionic Villus Sampling (CVS)

Amniocentesis

Cordocentesis

Fetoscopy

Scanning Ultrasound

Non-Invasive Prenatal Testing/Diagnosis

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9
Q

Amniocentesis risk of miscarriage

A

0.25-0.5%

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10
Q

Chorionic Villus Sampling risk of miscarriage

A

0.5-1%

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11
Q

Cordocentesis risk of miscarriage

A

1-2%;

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12
Q

Fetoscopy risk of miscarriage

A

12%

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13
Q

Nature of NTDs

A

open or closed

May cause paralysis below level of the defect

bowel and/or bladder function

hydrocephalus/Death

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14
Q

Spina bifida

A

NTD at spinal levels

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15
Q

Anencephaly

A

NTD at brain level

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16
Q
A

Spina bifida occulta

17
Q
A

Meningocoele

18
Q
A

myelomeningocoele

19
Q
A

Anencephaly

20
Q

Preventing NTDs

A
  • Folic acid
  • Found in broccoli, brussel sprouts, strawberries etc
  • supplements at 400 micrograms /day from before conception
  • prevents 70% of NTDs
  • But 30% are resistant
21
Q

Factors Predisposing to NTD

A
  • Hyperthermia (possibly)
  • Hypervitaminosis A
  • Diabetes
  • Anti-epileptic drugs -Sodium Valproate and carbamazepine