16295469
Descrição
Quiz por Matthew Coulson, atualizado more than 1 year ago
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Criado por Matthew Coulson
quase 6 anos atrás
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Questão 1
Questão
What is the first line specific genetic test for down's syndrome?
Responda
-
Array CGH
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Next Generation Sequencing
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Sanger Sequencing
-
Whole Genome Sequencing
Questão 2
Questão
Antenatal ultrasound screening tests are conducted in which weeks gestation?
Responda
-
8 weeks
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12 weeks
-
16 weeks
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20 weeks
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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
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1 in 8
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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
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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
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Array CGH
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Next Generation Sequencing
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Whole Genome Sequencing
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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
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amniotic fluid
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faeces
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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
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distal ileum
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transverse colon
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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
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Malrotation/Volvulus
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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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