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Yr 1 - Embryology > Birth Defects > Flashcards

Birth Defects Flashcards

1
Q

How common are human birth defects?

A

1 in 44 births in UK

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2
Q

When are women most vulnerable?

A

During embryonic period (E) - around weeks 3-8. Before this, foetus would die, after this most systems are developed.

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3
Q

Which system is most vulnerable to birth defects and why?

A

CNS - develops over long period of time

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4
Q

What causes congenital malformations and what %?

A 
Unknown - 50%
Genetic - 18%
- Chromosomal 10%
- Monogenic 8%
Environmental 7%
Multifactorial (combination of genetic & environment) 25%
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5
Q

What happens during chromosomal problems?

A

Problems during chromosomal separation or misalignment. Can be numerical or structural.

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6
Q

What happens during monogenic problems?

A

Defective gene on autosome that is inherited

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7
Q

What happens during Trisomy 21 - Down’s syndrome?

A

Failure of 21st chromosome to separate, producing an extra copy of chromosome 21. The cell therefore has 24 chromosomes.

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8
Q

What are the problems associated with Trisomy 21?

A

Growth retardation, intellectual retardation, craniofacial abnormalities, congenital heart defects.

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9
Q

What are environmental causes called?

A

Teratogens

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10
Q

What are the classifications of infectious causes?

A

Infections that can cross the placenta.

TORCH - Toxoplasmosis, Other (syphilis, Hep B), Rubella, Cytomegalovirus, Herpes.

Zika virus is considered newest addition.

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11
Q

Toxoplasmosis. How? Where? Symptoms?

A

Mother contracts parasite during embryonic period. Found in cat faeces, undercooked/raw meat. Usually asymptomatic.

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12
Q

What are congenital malformations in foetus as a result of T?

A
  • Inflammation of retina and eye
  • Hearing loss
  • Enlarged liver / spleen
  • Hydrocephaly
  • Microcephaly
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13
Q

What is hydrocephaly?

A

Fluid on brain pushes skull bones apart.

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14
Q

What is microcephaly?

A

Head and brain don’t form correctly (smaller than usual)

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15
Q

Rubella. How? When?

A

Infection passes over placenta in first 3 months of pregnancy. Rates have fallen since MMR vaccine.

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16
Q

Congenital malformations as a result of R?

A
  • Cloudy cornea
  • Intellectual disability
  • Microcephaly
  • . Heart defects
17
Q

Cytomegalovirus. How? Symptoms?

A

Virus crosses placenta. Infection via bodily fluids: semen, blood, sweat. Usually asymptomatic.

18
Q

Congenital malformations as a result of C?

A
  • Inflammation of retina/microphthalmia
  • Enlarged spleen/liver
  • Mineral deposits on brain (e.g. calcium)
19
Q

Herpes. How? When?

A

Herpes Simplex - Usually doesn’t travel up reproductive system of female, instead transferred to baby at birth.

Varicella Zoster Virus - Causes chickenpox. Most dangerous between 13-20 weeks of pregnancy, just before birth and up to 2 days postpartum.

20
Q

Congenital malformations as a result of H?

A
  • Segmental skin loss / scarring
  • Limb hypoplasia / paresis
  • Microcephaly
  • Visual defects
21
Q

Zika virus. How? Symptoms?

A

Mosquito bite, transmits through bodily fluids. Fever, rash, joint pain, red eyes but can also be asymptomatic.

22
Q

Congenital malformations as a result of zika?

A
  • Microcephaly

- Severe cognitive disabilities

23
Q

What are the chemical causes of birth defects?

A

Thalidomide and alcohol

24
Q

What was thalidomide used to treat and what were the results? Where is it still used?

A

Prescribed for morning sickness. Lead to shortened or absent limbs in children. Now used to treat leprosy and HIV (e.g. in Brazil)

25
Q

What can consumption of alcohol during pregnancy lead to?

A

Can cause foetal alcohol syndrome.

  • Prenatal and postnatal growth retardation
  • Intellectual disability
  • Impaired motor ability and coordination
26
Q

What are dangers of radiation exposure during pregnancy? Which system is most vulnerable?

A

Causes premature cell death or chromosomal changes. CNS is most sensitive.

27
Q

What are the congenital malformations as a result of radiation?

A
  • Microcephaly
  • Mental and cognitive disabilities
  • Haemopoietic malignancies and leukaemia
28
Q

What happens during diabetes mellitus? What effects can it have?

A

There is a problem with glucose crossing over the placenta and controlling the amount of glucose.

Can cause cellular structural defects and changes in cellular physiology

29
Q

Congenital malformations as a result of diabetes?

A
  • Macrosomia (enlarged baby)
  • Ventricular septal defects (within heart)
  • Spina bifida (neural tube defect)
  • Renal agenesis (failure of mature kidney formation)
30
Q

What can a deficiency in folic acid in women lead to? What are the congenital malformations?

A

Can cause problems with the development of the CNS.

  • Spina bifida
  • Anencephaly
31
Q

What is spina bifida?

A

Poor development of spine and spinal cord, causing a gap in the spine

32
Q

What is anencephaly?

A

Large past of skull and cerebral hemisphere of brain are absent.

33
Q

How is folic acid deficiency combatted?

A

OTC supplements reduce risk of malformation by 60%. Many countries impregnate food with folic acid.

34
Q

What are teratogens?

A

Teratogen: Any agent that can disturb the development of an embryo or fetus. Teratogens may cause a birth defect in the child. Or a teratogen may halt the pregnancy outright. The classes of teratogens include radiation, maternal infections, chemicals, and drugs.

35
Q

Which infection is usually transferred to the baby at birth instead of travelling up the reproductive tract?

A

Herpes Simplex

36
Q

What is the Varicella Zoster virus?

A

It causes chickenpox, also called varicella and shingles,

Yr 1 - Embryology (11 decks)

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