Genetic Screening/Testing

Question 1

Is NIPT technically genetic testing or genetic screening? Why-what does it check?

Answer 1

NIPT is a genetic screening test b/c it assesses the fetal DNA from the placenta (DNA may not be the baby’s)

Question 2

NIPT assesses for what chromosomal abnormality? and what chromosomes?

Answer 2

NIPT assesses for Trisomy 13, 18, and 21, and X, Y chromosomes

Question 3

What is NIPT’s percentage of accuracy?

Answer 3

97% and 99% accuracy

Question 4

What is the miscarriage rate of performing a Chorionic Villi Sampling? And what is the Detection rate of CVS?

Answer 4

CVS has a 1% miscarriage rate.

CVS has a 99% detection rate

Question 5

How long do results take for amnio? How long do results take for CVS?

Answer 5

Amnio and CVS take 2-3 days for results.

Question 6

How long to receive results from NIPT/IPS/FTS?

Answer 6

NIPT/IPS/FTS takes 1-2 weeks to receive results.

Question 7

What is the gestational age in which FTS can be done? What is the gestational age in which IPS can be done?

Answer 7

FTS results come in at 13-14 weeks. IPS results come in at 16-18 weeks

Question 8

If there is a normal NIPT, is doing an NT scan still helpful/valuable?

Answer 8

Yes doing an NT scan is still valuable to assess for other anomalies and fetal physiology.

Question 9

What material does amnio test?

Answer 9

The fetal DNA within the fetal skin cells