Clinical Genetics & Surgical Problems in O&G

Question 1 of 18

1

What is the first line specific genetic test for down's syndrome?

Select one of the following:

Array CGH
Next Generation Sequencing
Sanger Sequencing
Whole Genome Sequencing

Explanation

Question 2 of 18

1

Antenatal ultrasound screening tests are conducted in which weeks gestation?

Select one or more of the following:

8 weeks
12 weeks
16 weeks
20 weeks
24 weeks

Explanation

Question 3 of 18

1

Select from the dropdown list to complete the text.

Duchenne Muscular Dystrophy is an X-linked ( recessive, dominant ) condition

Explanation

Question 4 of 18

1

What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?

Select one of the following:

1 in 2
1 in 4
1 in 8
1 in 16

Explanation

Question 5 of 18

1

Select from the dropdown list to complete the text.

In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is ( 50%, 25%, 75%, 100% )

Explanation

Question 6 of 18

1

Select from the dropdown list to complete the text.

X linked recessive conditions typically only occur in ( males, females )

Explanation

Question 7 of 18

1

Fill the blank spaces to complete the text.

Chorionic Villus Biopsy can be conducted after weeks gestation
Amniocentesis can be conducted after weeks gestation

Explanation

Question 8 of 18

1

Fill the blank space to complete the text.

The sex of a child can be determined as of weeks gestation

Explanation

Question 9 of 18

1

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?

Select one of the following:

Chorionic Villus Biopsy
Array CGH
Next Generation Sequencing
Whole Genome Sequencing
Amniocentesis

Explanation

Question 10 of 18

1

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.

Select one of the following:

True
False

Explanation

Question 11 of 18

1

Select from the dropdown list to complete the text.

Pneumoperitoneum is an abnormal presence of ( air or other gas, amniotic fluid, faeces, urine ) in the peritoneal cavity

Explanation

Question 12 of 18

1

Fill the blank space to complete the text.

The first stool passed by an infant is known as the

Explanation

Question 13 of 18

1

Fill the blank space to complete the text.

Which congenital condition typically affects the pancreatic secretions making them abnormally thickened?

Explanation

Question 14 of 18

1

Select from the dropdown list to complete the text.

In a child with cystic fibrosis, the meconium typically becomes stuck in the ( distal ileum, transverse colon, 2nd part of the duodenum )

Explanation

Question 15 of 18

1

The first line treatment for meconium ileus is surgical in nature.

Select one of the following:

True
False

Explanation

Question 16 of 18

1

Fill the blank space to complete the text.

The absence or abnormal narrowing of an opening or passage in the body is known as

Explanation

Question 17 of 18

1

A baby who produces bile stained vomit shortly after birth is considered to have which condition until proven otherwise?

Select one of the following:

Pyloric Stenosis
Malrotation/Volvulus
Cystic Fibrosis

Explanation

Question 18 of 18

1

	Created by Matthew Coulson over 5 years ago

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.

Clinical Genetics & Surgical Problems in O&G

Question 1 of 18

What is the first line specific genetic test for down's syndrome?

Select one of the following:

Explanation

Question 2 of 18

Antenatal ultrasound screening tests are conducted in which weeks gestation?

Select one or more of the following:

Explanation

Question 3 of 18

Select from the dropdown list to complete the text.

Duchenne Muscular Dystrophy is an X-linked recessive dominant( recessive, dominant ) condition

Explanation

Question 4 of 18

What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?

Select one of the following:

Explanation

Question 5 of 18

Select from the dropdown list to complete the text.

In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is 50% 25% 75% 100%( 50%, 25%, 75%, 100% )

Explanation

Question 6 of 18

Select from the dropdown list to complete the text.

X linked recessive conditions typically only occur in males females( males, females )

Explanation

Question 7 of 18

Fill the blank spaces to complete the text.

Chorionic Villus Biopsy can be conducted after weeks gestation Amniocentesis can be conducted after weeks gestation

Explanation

Question 8 of 18

Fill the blank space to complete the text.

The sex of a child can be determined as of weeks gestation

Explanation

Question 9 of 18

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?

Select one of the following:

Explanation

Question 10 of 18

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.

Select one of the following:

Explanation

Question 11 of 18

Select from the dropdown list to complete the text.

Pneumoperitoneum is an abnormal presence of air or other gas amniotic fluid faeces urine( air or other gas, amniotic fluid, faeces, urine ) in the peritoneal cavity

Explanation

Question 12 of 18

Fill the blank space to complete the text.

The first stool passed by an infant is known as the

Explanation

Question 13 of 18

Fill the blank space to complete the text.

Which congenital condition typically affects the pancreatic secretions making them abnormally thickened?

Explanation

Question 14 of 18

Select from the dropdown list to complete the text.

In a child with cystic fibrosis, the meconium typically becomes stuck in the distal ileum transverse colon 2nd part of the duodenum( distal ileum, transverse colon, 2nd part of the duodenum )

Explanation

Question 15 of 18

The first line treatment for meconium ileus is surgical in nature.

Select one of the following:

Explanation

Question 16 of 18

Fill the blank space to complete the text.

The absence or abnormal narrowing of an opening or passage in the body is known as

Explanation

Question 17 of 18

A baby who produces bile stained vomit shortly after birth is considered to have which condition until proven otherwise?

Select one of the following:

Explanation

Question 18 of 18

Fill the blank space to complete the text.

This condition, whereby a section of the foetal intestines has telescoped inside of another, is a clinical emergency known as

Explanation

Duchenne Muscular Dystrophy is an X-linked ( recessive, dominant ) condition

In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is ( 50%, 25%, 75%, 100% )

X linked recessive conditions typically only occur in ( males, females )

Chorionic Villus Biopsy can be conducted after weeks gestation
Amniocentesis can be conducted after weeks gestation

Pneumoperitoneum is an abnormal presence of ( air or other gas, amniotic fluid, faeces, urine ) in the peritoneal cavity

In a child with cystic fibrosis, the meconium typically becomes stuck in the ( distal ileum, transverse colon, 2nd part of the duodenum )