Clinical Genetics & Surgical Problems in O&G

Descripción

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
Test por Matthew Coulson, actualizado hace más de 1 año
Matthew Coulson
Creado por Matthew Coulson hace más de 5 años
9
1

Resumen del Recurso

Pregunta 1

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

Pregunta 2

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

Pregunta 3

Pregunta
Duchenne Muscular Dystrophy is an X-linked [blank_start]recessive[blank_end] condition
Respuesta
  • recessive
  • 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
  • 1 in 4
  • 1 in 8
  • 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%
  • 25%
  • 75%
  • 100%

Pregunta 6

Pregunta
X linked recessive conditions typically only occur in [blank_start]males[blank_end]
Respuesta
  • males
  • 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
  • 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
  • Array CGH
  • Next Generation Sequencing
  • Whole Genome Sequencing
  • 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
  • amniotic fluid
  • faeces
  • 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
  • transverse colon
  • 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
  • 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
  • Malrotation/Volvulus
  • 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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