Reproductive Genetics

Descripción

Genetics I lecture given as a SURPRISE on the friday of week 2 :)))
Matthew Coulson
Test por Matthew Coulson, actualizado hace más de 1 año
Matthew Coulson
Creado por Matthew Coulson hace más de 5 años
12
1

Resumen del Recurso

Pregunta 1

Pregunta
Match the genetic sampling technique to the tissue it detects: Placenta - [blank_start]Chorionic Villus Biopsy[blank_end] Skin / Urine Cells - [blank_start]Amniocentesis[blank_end] Blood - [blank_start]Fetal blood sampling[blank_end]
Respuesta
  • Chorionic Villus Biopsy
  • Amniocentesis
  • Fetal blood sampling

Pregunta 2

Pregunta
Match the genetic sampling technique to the point in pregnancy at which it can be conducted: After 11.5 weeks: [blank_start]Chorionic Villus Biopsy[blank_end] After 16 weeks: [blank_start]Amniocentesis[blank_end] After 18 weeks: [blank_start]Foetal Blood Sample[blank_end]
Respuesta
  • Foetal Blood Sample
  • Amniocentesis
  • Chorionic Villus Biopsy

Pregunta 3

Pregunta
Non-Invasive Prenatal Testing involves taking a sample of [blank_start]blood[blank_end] from a mother to look for foetal DNA
Respuesta
  • blood
  • urine
  • hair
  • the placenta
  • the cervix

Pregunta 4

Pregunta
When is the earliest in pregnancy that Non-Invasive Prenatal Testing can be conducted? [blank_start]8[blank_end] Weeks
Respuesta
  • 8

Pregunta 5

Pregunta
Which two of the following genetic sampling methods involve a 1-2% risk of inducing miscarriage?
Respuesta
  • Chorionic Villus Biopsy
  • Amniocentesis
  • Foetal Blood Sample
  • Non-Invasive Prenatal Testing

Pregunta 6

Pregunta
Which term describes a genetic change that causes disease? [blank_start]Mutation[blank_end]
Respuesta
  • Mutation

Pregunta 7

Pregunta
Which term describes a genetic change that does not necessarily predispose to a disease? [blank_start]Polymorphism[blank_end]
Respuesta
  • Polymorphism

Pregunta 8

Pregunta
There are two main types of Polymorphisms present in humans - name them. [blank_start]Single Nucleotide Polymorphisms[blank_end]: Single base changes [blank_start]Copy Number Variations[blank_end]: Insertions or deletions of DNA segments
Respuesta
  • Single Nucleotide Polymorphisms
  • Copy Number Variations

Pregunta 9

Pregunta
Which three of the following genetic analysis techniques are used for whole genome sampling?
Respuesta
  • Array CGH
  • Foetal DNA in Maternal Blood
  • Point Mutation Testing
  • Fluorescence in-situ Hybridisation (FISH)
  • Quantitative Fluorescent PCR
  • Next Generation Sequencing

Pregunta 10

Pregunta
Which three of the following genetic sequencing techniques are used for targeted genetic sequencing?
Respuesta
  • Array CGH
  • Foetal DNA in Maternal Blood
  • Next Generation Sequencing
  • Fluorescence in-situ Hybridisation (FISH)
  • Quantitative Fluorescent PCR
  • Point Mutation Testing

Pregunta 11

Pregunta
Foetal Ultrasound scans are typically carried out first at [blank_start]12[blank_end] weeks then again at [blank_start]20[blank_end] weeks to check for any foetal abnormalities
Respuesta
  • 12
  • 20

Pregunta 12

Pregunta
Which measurement made on foetal ultrasound scanning is used to assess whether the child is likely to have abnormalities such as down's syndrome? [blank_start]Nuchal[blank_end] Thickness
Respuesta
  • Nuchal

Pregunta 13

Pregunta
The nuchal thickness is thought to be abnormal if it is above [blank_start]6[blank_end]mm
Respuesta
  • 6
  • 10
  • 14

Pregunta 14

Pregunta
At around 16 weeks a maternal [blank_start]blood[blank_end] test is conducted to look for biochemical markers of Down Syndrome
Respuesta
  • blood

Pregunta 15

Pregunta
Which Genetic Sequencing Test is used to detect extra or missing chromosomes and is thus most useful in detecting Down Syndrome in a foetus with nuchal thickening?
Respuesta
  • Array CGH
  • Next Generation Sequencing
  • Foetal DNA in Maternal Blood
  • Fluorescent In-Situ Hybridisation (FISH)
  • Quantitative Fluorescent PCR
  • Point Mutation Testing

Pregunta 16

Pregunta
Apart from Array CGH, which of the following genetic sequencing tests is also useful in detecting Down Syndrome?
Respuesta
  • Next Generation Sequencing
  • Foetal DNA in Maternal Blood
  • Fluorescent In-Situ Hybridisation
  • Quantitative Fluorescent PCR
  • Point Mutation Testing

Pregunta 17

Pregunta
Chorionic Villus Biopsy and Amniocentesis can both be used to detect a wide range of foetal abnormalities whereas generally Non-Invasive Prenatal Testing is only used to detect Down Syndrome
Respuesta
  • True
  • False

Pregunta 18

Pregunta
Mrs Blue comes to see you. She is 18 weeks pregnant. A detailed scan has shown that her baby has a cardiac defect: an AtrioVentricular Septal Defect that is commonly seen in Down syndrome. What is the best first egentic sequencing test? [blank_start]Array CGH[blank_end]
Respuesta
  • Array CGH

Pregunta 19

Pregunta
Two acrocentric chromosomes stuck end to end is known as a [blank_start]Robertsonian[blank_end] Translocation
Respuesta
  • Robertsonian

Pregunta 20

Pregunta
Non-Invasive Prenatal Testing can also be used to determine the sex of the foetus
Respuesta
  • True
  • False

Pregunta 21

Pregunta
[blank_start]Balanced[blank_end] Chromosomal Rearrangement: All of the chromosomal material is present [blank_start]Unbalanced[blank_end] Chromosomal Rearrangement: Extra or missing chromosomal material
Respuesta
  • Unbalanced
  • Balanced

Pregunta 22

Pregunta
Unbalanced Chromosomal Rearrangement are better than balanced ones
Respuesta
  • True
  • False

Pregunta 23

Pregunta
What is the term given to describe the presence of an abnormal number of chromosomes in a cell? For example, a human cell having 45 or 47 chromosomes instead of the usual 46. [blank_start]Aneuploidy[blank_end]
Respuesta
  • Aneuploidy

Pregunta 24

Pregunta
Array CGH only detects balanced translocations
Respuesta
  • True
  • False
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