NM702 MODULE 8 EXAM QUESTIONS AND ANSWERS WITH
COMPLETE SOLUTIONS VERIFIED LATEST UPDATE
Which ethnic group has the highest rate of CF carriers?
Caucasian (1:29)
What must happen for a child to be born with an autosomal recessive disorder?
The child must inherit two recessive alleles- one from the father and one from the
mother.
If a woman has been screened for her genetic carrier status in a prior pregnancy,
does she need to have the test repeated in subsequent pregnancies?
No. One's carrier status doesn't change between pregnancies.
If a woman screens negative for being a CF carrier, is there still a risk she could
have a baby with CF?
Yes- she still has residual risk because not all of the possible mutations are screened
for.
What is the next appropriate step for a pregnant woman who screens positive for
an autosomal recessive disorder?
Screen the father of the child to ascertain his carrier status.
What do you do if a pregnant woman is a CF carrier and the father of the baby is
unavailable for testing?
Refer her to genetic counseling.
, If a woman has a known family history of a particular genetic condition, what
should you do?
Refer her to genetic counseling (certain defects require special testing, sometimes
diagnostic testing is indicated)
What is the risk of having a child who is affected with an autosomal recessive
condition when both parents are carriers?
25%
What determines the severity of Fragile X Syndrome?
The number of "CGG" repeats on the FMR1 gene located on the X chromosome.
What are the two most common fatal autosomal recessive disorders?
Cystic fibrosis and SMA
What should women who test positive for SMA be offered?
Genetic counseling (it is difficult to predict the phenotype of affected fetuses)
What genetic screening should be offered to women of Ashkenazi Jewish
Descent?
Screening for a panel of recessive disorders, including at a minimum: Cystic Fibrosis,
Tay-Sachs disease, Canavan disease, and familial dysautonomia
What are the available first trimester screening options for aneuploidy?
First trimester serum screen with or without NT measurement; NIPT; integrated or
sequential screening
When is genetic screening best performed?
As early as possible given the woman's gestational age and her choice of test.
COMPLETE SOLUTIONS VERIFIED LATEST UPDATE
Which ethnic group has the highest rate of CF carriers?
Caucasian (1:29)
What must happen for a child to be born with an autosomal recessive disorder?
The child must inherit two recessive alleles- one from the father and one from the
mother.
If a woman has been screened for her genetic carrier status in a prior pregnancy,
does she need to have the test repeated in subsequent pregnancies?
No. One's carrier status doesn't change between pregnancies.
If a woman screens negative for being a CF carrier, is there still a risk she could
have a baby with CF?
Yes- she still has residual risk because not all of the possible mutations are screened
for.
What is the next appropriate step for a pregnant woman who screens positive for
an autosomal recessive disorder?
Screen the father of the child to ascertain his carrier status.
What do you do if a pregnant woman is a CF carrier and the father of the baby is
unavailable for testing?
Refer her to genetic counseling.
, If a woman has a known family history of a particular genetic condition, what
should you do?
Refer her to genetic counseling (certain defects require special testing, sometimes
diagnostic testing is indicated)
What is the risk of having a child who is affected with an autosomal recessive
condition when both parents are carriers?
25%
What determines the severity of Fragile X Syndrome?
The number of "CGG" repeats on the FMR1 gene located on the X chromosome.
What are the two most common fatal autosomal recessive disorders?
Cystic fibrosis and SMA
What should women who test positive for SMA be offered?
Genetic counseling (it is difficult to predict the phenotype of affected fetuses)
What genetic screening should be offered to women of Ashkenazi Jewish
Descent?
Screening for a panel of recessive disorders, including at a minimum: Cystic Fibrosis,
Tay-Sachs disease, Canavan disease, and familial dysautonomia
What are the available first trimester screening options for aneuploidy?
First trimester serum screen with or without NT measurement; NIPT; integrated or
sequential screening
When is genetic screening best performed?
As early as possible given the woman's gestational age and her choice of test.
