Pre-Natal Testing Flashcards

1
Q

What are the components of prenatal testing?

A
  • prenatal screening

- prenatal diagnosis

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2
Q

Contrast prenatal screening and prenatal diagnosis

A
  • prenatal screening: focuses on finding problems among large population with affordable and non-invasive methods (eg. downs syndrome, blood borne viruses etc)
  • prenatal diagnosis: focuses on pursuing additional detailed information once a problem has been found and can sometimes be more invasive (eg. chorionic villus sampling)
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3
Q

What is the purpose of prenatal testing?

A
  • enable timely medical/surgical treatment of a condition before or after birth
  • give parents chance to terminate pregnancy with diagnosed condition
  • give parents the chance to prepare physiologically, socially, financially, and medically for baby with health problem/disability/likelihoof stillborn
  • organise fetal surveillance
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4
Q

What are the types of screening during pregnancy?

A
  • blood tests (FBC, blood group and rhesus state, haemoglobinopathies, infectious disease, chromosomal disorders)
  • USS
  • questionnaire
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5
Q

Describe the first trimester combined test

A

Uses:

  • maternal age
  • nuchal translucency measurement
  • free beta hCG and PAPP-A
  • gestational age
  • done from 11-14 weeks
  • results show whether high or low chance of having a baby with Down’s Syndrome
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6
Q

Describe the second trimester screening

A

Uses:

  • maternal age
  • biomarkers
  • done 14-20 weeks
  • not as good at detecting Down’s/Edward’s/Patau’s Syndrome
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7
Q

What are the further options for women who have higher-chance result 1:150 from first or second trimester screening?

A
  • no further tests
  • more accurate blood screening NIPT
  • diagnostic tests: chorionic villus sampling or amniocentesis
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8
Q

Describe NIPT

A
  • screening so not diagnostic
  • from 10 weeks
  • cell free DNA extracted and analysed from maternal blood test
  • results given as low or high chance result
  • if low chance then no further tests offered
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9
Q

Describe chorionic villus sampling

A
  • fine needle inserted through abdomen and into uterus or through cervix, and small piece of developing placenta removed
  • done from 11 weeks
  • tests for inherited disorders (eg. CF, sickle cell, thalassaemias, DMD)
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10
Q

Describe amniocentesis

A
  • needle inserted through abdomen and into amniotic fluid which is aspirated
  • used for karyotyping if screening suggests aneuploidy
  • from 15 weeks
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11
Q

Describe ultrasound screening

A
  • dating scan at 12 weeks for:
  • number of pregnancies
  • viability
  • gestational weeks
  • NT thickness
  • NT defects
  • anomaly scan at 20 weeks for:
  • physical abnormalities (eg. spinda bifida, placental position)
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12
Q

Describe preimplantation genetic diagnosis (PGD)

A
  • offered to couples who risk passing on genetic disorder
  • removal of 1 cell from early embryo
  • uncommon and expensive
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13
Q

What disorders is PGD acceptable for?

A
  • a disorder that may affect capacity for live birth
  • risk of child being born with or developing a serious disability
  • eg. CF, fragile X syndrome, blood disorders etc.
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14
Q

What are things to consider in the seriousness of a disability/disorder?

A
  • views of those seeking treatment
  • likely degree of suffering
  • availability of effective treatment
  • speed of degeneration
  • extend of intellectual impairment
  • family circumstances
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15
Q

What is CRISPR gene editing?

A
  • genetic engineering technique which involves genomes of living organisms are modified
  • allows genomes to be edited in vivo with high precision, cheaply and with ease and can be used to make new medicines
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