Reproductive Genetics

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]

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]

Non-Invasive Prenatal Testing involves taking a sample of [blank_start]blood[blank_end] from a mother to look for foetal DNA

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

Which two of the following genetic sampling methods involve a 1-2% risk of inducing miscarriage?

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

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

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

Which three of the following genetic analysis techniques are used for whole genome sampling?

Which three of the following genetic sequencing techniques are used for targeted genetic sequencing?

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

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

The nuchal thickness is thought to be abnormal if it is above [blank_start]6[blank_end]mm

At around 16 weeks a maternal [blank_start]blood[blank_end] 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?

Apart from Array CGH, which of the following genetic sequencing tests is also useful in detecting Down Syndrome?

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? [blank_start]Array CGH[blank_end]

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

Non-Invasive Prenatal Testing can also be used to determine the sex of the foetus

[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

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. [blank_start]Aneuploidy[blank_end]

Array CGH only detects balanced translocations