16295469
Descripción
Test por Matthew Coulson, actualizado hace más de 1 año
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Creado por Matthew Coulson
hace casi 6 años
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Pregunta 1
Pregunta
What is the first line specific genetic test for down's syndrome?
Respuesta
-
Array CGH
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Next Generation Sequencing
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Sanger Sequencing
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Whole Genome Sequencing
Pregunta 2
Pregunta
Antenatal ultrasound screening tests are conducted in which weeks gestation?
Respuesta
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8 weeks
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12 weeks
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16 weeks
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20 weeks
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24 weeks
Pregunta 3
Pregunta
Duchenne Muscular Dystrophy is an X-linked [blank_start]recessive[blank_end] condition
Respuesta
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recessive
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dominant
Pregunta 4
Pregunta
What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?
Respuesta
-
1 in 2
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1 in 4
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1 in 8
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1 in 16
Pregunta 5
Pregunta
In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is [blank_start]50%[blank_end]
Respuesta
-
50%
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25%
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75%
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100%
Pregunta 6
Pregunta
X linked recessive conditions typically only occur in [blank_start]males[blank_end]
Respuesta
-
males
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females
Pregunta 7
Pregunta
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
Respuesta
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11
-
16
Pregunta 8
Pregunta
The sex of a child can be determined as of [blank_start]8[blank_end] weeks gestation
Respuesta
-
8
Pregunta 9
Pregunta
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?
Respuesta
-
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
Pregunta 10
Pregunta
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.
Respuesta
- True
- False
Pregunta 11
Pregunta
Pneumoperitoneum is an abnormal presence of [blank_start]gas[blank_end] in the peritoneal cavity
Respuesta
-
air or other gas
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amniotic fluid
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faeces
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urine
Pregunta 12
Pregunta
The first stool passed by an infant is known as the [blank_start]meconium[blank_end]
Respuesta
-
meconium
Pregunta 13
Pregunta
Which congenital condition typically affects the pancreatic secretions making them abnormally thickened?
[blank_start]Cystic Fibrosis[blank_end]
Respuesta
-
Cystic Fibrosis
Pregunta 14
Pregunta
In a child with cystic fibrosis, the meconium typically becomes stuck in the [blank_start]distal ileum[blank_end]
Respuesta
-
distal ileum
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transverse colon
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2nd part of the duodenum
Pregunta 15
Pregunta
The first line treatment for meconium ileus is surgical in nature.
Respuesta
- True
- False
Pregunta 16
Pregunta
The absence or abnormal narrowing of an opening or passage in the body is known as [blank_start]atresia[blank_end]
Respuesta
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atresia
Pregunta 17
Pregunta
A baby who produces bile stained vomit shortly after birth is considered to have which condition until proven otherwise?
Respuesta
-
Pyloric Stenosis
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Malrotation/Volvulus
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Cystic Fibrosis
Pregunta 18
Pregunta
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]
Respuesta
-
intussusception
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