Clinical Genetics & Surgical Problems in O&G

Descrição

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 por Matthew Coulson, atualizado more than 1 year ago
Matthew Coulson
Criado por Matthew Coulson mais de 5 anos atrás
9
1

Resumo de Recurso

Questão 1

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

Questão 2

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

Questão 3

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

Questão 4

Questão
What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?
Responda
  • 1 in 2
  • 1 in 4
  • 1 in 8
  • 1 in 16

Questão 5

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

Questão 6

Questão
X linked recessive conditions typically only occur in [blank_start]males[blank_end]
Responda
  • males
  • females

Questão 7

Questão
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
Responda
  • 11
  • 16

Questão 8

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

Questão 9

Questão
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?
Responda
  • Chorionic Villus Biopsy
  • Array CGH
  • Next Generation Sequencing
  • Whole Genome Sequencing
  • Amniocentesis

Questão 10

Questão
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.
Responda
  • True
  • False

Questão 11

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

Questão 12

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

Questão 13

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

Questão 14

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

Questão 15

Questão
The first line treatment for meconium ileus is surgical in nature.
Responda
  • True
  • False

Questão 16

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

Questão 17

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

Questão 18

Questão
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]
Responda
  • intussusception

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