Match the genetic sampling technique to the tissue it detects: Placenta - ❌ Skin / Urine Cells - ❌ Blood - ❌
Match the genetic sampling technique to the point in pregnancy at which it can be conducted: After 11.5 weeks: ❌ After 16 weeks: ❌ After 18 weeks: ❌
Non-Invasive Prenatal Testing involves taking a sample of blood urine hair the placenta the cervix( blood, urine, hair, the placenta, the cervix ) from a mother to look for foetal DNA
When is the earliest in pregnancy that Non-Invasive Prenatal Testing can be conducted? Weeks
Which two of the following genetic sampling methods involve a 1-2% risk of inducing miscarriage?
Chorionic Villus Biopsy
Amniocentesis
Foetal Blood Sample
Non-Invasive Prenatal Testing
Which term describes a genetic change that causes disease?
Which term describes a genetic change that does not necessarily predispose to a disease?
There are two main types of Polymorphisms present in humans - name them. : Single base changes : Insertions or deletions of DNA segments
Which three of the following genetic analysis techniques are used for whole genome sampling?
Array CGH
Foetal DNA in Maternal Blood
Point Mutation Testing
Fluorescence in-situ Hybridisation (FISH)
Quantitative Fluorescent PCR
Next Generation Sequencing
Which three of the following genetic sequencing techniques are used for targeted genetic sequencing?
Foetal Ultrasound scans are typically carried out first at weeks then again at weeks to check for any foetal abnormalities
Which measurement made on foetal ultrasound scanning is used to assess whether the child is likely to have abnormalities such as down's syndrome? Thickness
The nuchal thickness is thought to be abnormal if it is above 6 10 14( 6, 10, 14 )mm
At around 16 weeks a maternal test is conducted to look for biochemical markers of Down Syndrome
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?
Fluorescent In-Situ Hybridisation (FISH)
Apart from Array CGH, which of the following genetic sequencing tests is also useful in detecting Down Syndrome?
Fluorescent In-Situ Hybridisation
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
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?
Two acrocentric chromosomes stuck end to end is known as a Translocation
Non-Invasive Prenatal Testing can also be used to determine the sex of the foetus
❌ Chromosomal Rearrangement: All of the chromosomal material is present ❌ Chromosomal Rearrangement: Extra or missing chromosomal material
Unbalanced Chromosomal Rearrangement are better than balanced ones
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.
Array CGH only detects balanced translocations
