NIPT, otherwise known as "NIPS" lol

Question 1

What chromosomes does NIPT look at?

Answer 1

Chromosomes 21, 18, 13, X and Y

Question 2

What should always be offered if NIPT results come back as positive?

Answer 2

• Diagnostic testing in the form of an amnio or a CVS

Question 3

What chromosomal abnormalities would not be detected?

Answer 3

• Unbalanced translocations
• Deletions
• Duplications

Question 4

What should also be offered as an alternative when fetal anomalies are detected?

Answer 4

• Invasive diagnostic testing and cytogenomic microarray analysis are more likely to detect chromosomal imbalances than NIPT

Question 5

Is NIPT able to distinguish the specific types of Down Syndrome?

Answer 5

No, it cannot determine if Down syndrome is due to the presence of an extra chromosome, a Robertsonian translocation, or high-level mosaicism

Question 6

When is NIPT offered?

Answer 6

• After 10 weeks gestation
• Usually offered between 10 and 20 weeks gestation, which allows time for follow-up of positive test results
• Reasonable to offer NIPT after 20 weeks if an expectant mother desires information regarding risk, reassurance, or knowledge in order to inform OB management and/or preparation for birth

Question 7

NIPT does not screen for open neural tube defects, what still should be offered at 15 - 20 weeks?

Answer 7

MSAFP, to screen for open neural tube defects

Question 8

What should pretest counseling include?

Answer 8

• A brief explanation of the purpose of NIPT
• Advantages of NIPT compared with maternal serum screening (higher detection rates, lower false-positive rates)
• Considerations for follow-up invasive testing if NIPT is positive
• Limitations of NIPT