Quiz
Reproductive Genetics
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Perguntas do quiz (24)
1Match 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]- AChorionic Villus Biopsy
- BAmniocentesis
- CFetal blood sampling
2Match 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]- AFoetal Blood Sample
- BAmniocentesis
- CChorionic Villus Biopsy
3Non-Invasive Prenatal Testing involves taking a sample of [blank_start]blood[blank_end] from a mother to look for foetal DNA
- Ablood
- Burine
- Chair
- Dthe placenta
- Ethe cervix
4When is the earliest in pregnancy that Non-Invasive Prenatal Testing can be conducted?
[blank_start]8[blank_end] Weeks- A8
5Which two of the following genetic sampling methods involve a 1-2% risk of inducing miscarriage?
- AChorionic Villus Biopsy
- BAmniocentesis
- CFoetal Blood Sample
- DNon-Invasive Prenatal Testing
6Which term describes a genetic change that causes disease?
[blank_start]Mutation[blank_end]- AMutation
7Which term describes a genetic change that does not necessarily predispose to a disease?
[blank_start]Polymorphism[blank_end]- APolymorphism
8There 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- ASingle Nucleotide Polymorphisms
- BCopy Number Variations
9Which three of the following genetic analysis techniques are used for whole genome sampling?
- AArray CGH
- BFoetal DNA in Maternal Blood
- CPoint Mutation Testing
- DFluorescence in-situ Hybridisation (FISH)
- EQuantitative Fluorescent PCR
- FNext Generation Sequencing
10Which three of the following genetic sequencing techniques are used for targeted genetic sequencing?
- AArray CGH
- BFoetal DNA in Maternal Blood
- CNext Generation Sequencing
- DFluorescence in-situ Hybridisation (FISH)
- EQuantitative Fluorescent PCR
- FPoint Mutation Testing
11Foetal 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
- A12
- B20
12Which 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- ANuchal
13The nuchal thickness is thought to be abnormal if it is above [blank_start]6[blank_end]mm
- A6
- B10
- C14
14At around 16 weeks a maternal [blank_start]blood[blank_end] test is conducted to look for biochemical markers of Down Syndrome
- Ablood
15Which 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?
- AArray CGH
- BNext Generation Sequencing
- CFoetal DNA in Maternal Blood
- DFluorescent In-Situ Hybridisation (FISH)
- EQuantitative Fluorescent PCR
- FPoint Mutation Testing
16Apart from Array CGH, which of the following genetic sequencing tests is also useful in detecting Down Syndrome?
- ANext Generation Sequencing
- BFoetal DNA in Maternal Blood
- CFluorescent In-Situ Hybridisation
- DQuantitative Fluorescent PCR
- EPoint Mutation Testing
17Chorionic 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
- AVerdadeiro
- BFalso
18Mrs 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]- AArray CGH
19Two acrocentric chromosomes stuck end to end is known as a [blank_start]Robertsonian[blank_end] Translocation
- ARobertsonian
20Non-Invasive Prenatal Testing can also be used to determine the sex of the foetus
- AVerdadeiro
- BFalso
21[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- AUnbalanced
- BBalanced
22Unbalanced Chromosomal Rearrangement are better than balanced ones
- AVerdadeiro
- BFalso
23What 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]- AAneuploidy
24Array CGH only detects balanced translocations
- AVerdadeiro
- BFalso
Informações
- Descrição
- Genetics I lecture given as a SURPRISE on the friday of week 2 :)))
- Autor
- Matthew Coulson
- Idioma
- English
- Visualizações
- 44
- Etiquetas
- Avaliação
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