30 Questions
Which term refers to the microscopic structures in the nucleus of a cell that contain genetic information?
Chromosomes
What is the normal number of chromosomes in humans?
46
Which term refers to an abnormal number of chromosomes?
Aneuploidy
What is the term for structural or functional abnormalities existing at birth?
Congenital anomalies
What is the term for the number of complete sets of chromosomes in a cell?
Ploidy
Which of the following can cause congenital anomalies?
Both drugs and viruses
What is the term for an abnormality in the structure or number of chromosomes?
Abnormal Chromosomes
Which term describes cells that contain more than two sets of chromosomes?
Polyploidy
Which of the following is NOT a sonographic marker for Trisomy 21 (Down syndrome)?
A, C and D
What is the main cause of death in Trisomy 21 (Down syndrome) fetuses?
Heart defects
Which of the following is a SOFT marker routinely evaluated for Trisomy 21?
Choroid plexus cysts
Which chromosomal abnormality is also known as Edwards syndrome?
Trisomy 18
What is the survival rate for infants with Trisomy 18 (Edwards syndrome)?
5-10%
Which of the following is NOT a sonographic marker for Trisomy 18 (Edwards syndrome)?
All of the above
Which syndrome is characterized by the presence of a third 13th chromosome?
Trisomy 13
Which syndrome affects females and is characterized by the absence of part or all of one X chromosome?
Turner syndrome
What is the most common sonographic marker for Turner syndrome?
Cystic hygroma
What is the cause of triploidy?
Ovum fertilized by two sperm
Which chromosomal abnormality is associated with a complete third set of chromosomes (total of 69 chromosomes)?
Triploidy
In triploidy, in what percentage of cases is the extra set of chromosomes paternally derived?
60%
What is the most common sonographic marker for triploidy?
Molar placenta
Which population has the highest number of babies with chromosome abnormalities?
Patients under 35 years of age
What is the most common chromosomal abnormality?
Trisomy 21
What is the main purpose of biochemical serum markers in screening for aneuploidy?
To identify most fetuses at risk
Why is invasive testing not offered to all patients?
It is too expensive
Which maternal blood test evaluates AFP, estriol, and ß-hCG?
Triple screen
Which hormone is decreased in maternal blood with trisomy 21 and 18?
ß-hCG
What does dimeric inhibin A indicate in the triple screen plus (5 screen) test?
Risk of IUGR and trisomy 21
What was the detection rate of chromosomal abnormalities with the MSAFP test alone?
25%
What is the Cell-free DNA test also known as?
Non-invasive Prenatal Test (NIPT)
Test your knowledge on Trisomy 13, also known as Patau syndrome. Learn about the presence of an extra 13th chromosome, high abortion rate, multiple anomalies in surviving embryos, severe neurological issues, complex heart defects, and common sonographic markers.
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