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Clinical Genetics & Surgical Problems in O&G

Description

The 2nd lecture in the reproductive genetics series given on the friday of week 5, combined with the surgical lecture we didn't get on Tuesday. There's not too much here, I just selected the most important parts I didn't know.
Matthew Coulson
Quiz by Matthew Coulson, updated more than 1 year ago
Matthew Coulson
Created by Matthew Coulson almost 6 years ago
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Resource summary

Question 1

Question
What is the first line specific genetic test for down's syndrome?
Answer
  • Array CGH
  • Next Generation Sequencing
  • Sanger Sequencing
  • Whole Genome Sequencing

Question 2

Question
Antenatal ultrasound screening tests are conducted in which weeks gestation?
Answer
  • 8 weeks
  • 12 weeks
  • 16 weeks
  • 20 weeks
  • 24 weeks

Question 3

Question
Duchenne Muscular Dystrophy is an X-linked [blank_start]recessive[blank_end] condition
Answer
  • recessive
  • dominant

Question 4

Question
What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?
Image:
Picture1 (binary/octet-stream)
Answer
  • 1 in 2
  • 1 in 4
  • 1 in 8
  • 1 in 16

Question 5

Question
In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is [blank_start]50%[blank_end]
Answer
  • 50%
  • 25%
  • 75%
  • 100%

Question 6

Question
X linked recessive conditions typically only occur in [blank_start]males[blank_end]
Answer
  • males
  • females

Question 7

Question
Chorionic Villus Biopsy can be conducted after [blank_start]11[blank_end] weeks gestation Amniocentesis can be conducted after [blank_start]16[blank_end] weeks gestation
Answer
  • 11
  • 16

Question 8

Question
The sex of a child can be determined as of [blank_start]8[blank_end] weeks gestation
Answer
  • 8

Question 9

Question
Let's say a pregnant woman who is a carrier for DMD is 8 weeks pregnant, and a scan confirms her child will be male. Which is the best screening test for DMD?
Answer
  • Chorionic Villus Biopsy
  • Array CGH
  • Next Generation Sequencing
  • Whole Genome Sequencing
  • Amniocentesis

Question 10

Question
Typically, if a pregnant woman who is a DMD carrier has her child confirmed as female, she does not need to worry about her being affected by the condition.
Answer
  • True
  • False

Question 11

Question
Pneumoperitoneum is an abnormal presence of [blank_start]gas[blank_end] in the peritoneal cavity
Answer
  • air or other gas
  • amniotic fluid
  • faeces
  • urine

Question 12

Question
The first stool passed by an infant is known as the [blank_start]meconium[blank_end]
Answer
  • meconium

Question 13

Question
Which congenital condition typically affects the pancreatic secretions making them abnormally thickened? [blank_start]Cystic Fibrosis[blank_end]
Answer
  • Cystic Fibrosis

Question 14

Question
In a child with cystic fibrosis, the meconium typically becomes stuck in the [blank_start]distal ileum[blank_end]
Answer
  • distal ileum
  • transverse colon
  • 2nd part of the duodenum

Question 15

Question
The first line treatment for meconium ileus is surgical in nature.
Answer
  • True
  • False

Question 16

Question
The absence or abnormal narrowing of an opening or passage in the body is known as [blank_start]atresia[blank_end]
Answer
  • atresia

Question 17

Question
A baby who produces bile stained vomit shortly after birth is considered to have which condition until proven otherwise?
Answer
  • Pyloric Stenosis
  • Malrotation/Volvulus
  • Cystic Fibrosis

Question 18

Question
This condition, whereby a section of the foetal intestines has telescoped inside of another, is a clinical emergency known as [blank_start]intussusception[blank_end]
Image:
Picture2 (binary/octet-stream)
Answer
  • intussusception
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