Section 1: Aneuploidy in Pregnancy

What is aneuploidy?
How common is aneuploidy in pregnancy?
How does the risk of fetal aneuploidy increase with maternal age?

Section 2: Chromosome Deletions in Pregnancy

What is a chromosome deletion?
How common is the chromosome 22q11.2 deletion in pregnancy?
Is it important to screen for the 22q11.2 deletion?
Is the 22q11.2 deletion clinically relevant?

Section 3: How a Non-invasive Prenatal Test (NIPT) Works

What is a Non-invasive Prenatal Test (NIPT)?
How does NIPT work?
How is NIPT different from other prenatal screening tests?
Can the mother’s health interfere with NIPT?
If a woman has already had a child, does NIPT detect any DNA from the first baby?
Why are there different types of NIPT?
Are all NIPT methods the same?
Do all NIPT methods provide the same quality?
Which type of NIPT should women use?
Does a pregnant woman still require a first trimester screen?
Who should be offered NIPT?
In what circumstances may NIPT not be an appropriate test?
What is the downside to NIPT?

Section 4: The Conditions Detected by Harmony

Are all chromosome disorders detected by Harmony?
What autosomal aneuploidies are detected?
Does Harmony test for chromosome deletions?
Does Harmony reveal the sex of the fetus?
What sex chromosome aneuploidies are detected by Harmony?
Does Harmony test for familial disorders?
Can Harmony diagnose cancer in a pregnant woman?

Section 5: The Accuracy of Harmony

What is the accuracy of Harmony for aneuploidy?
What is the accuracy of Harmony for 22q11.2 deletion?
What is the positive predictive value (PPV) of Harmony?
How accurate is Harmony in twin pregnancies?
Can Harmony be performed for triplets or multiple higher order pregnancies?
Can Harmony be used in IVF pregnancy?

Section 6: Requesting Harmony

At what time in pregnancy can the Harmony Prenatal Test be performed?
Should Harmony be done before or after the patient has an ultrasound scan?
Who can request a Harmony Prenatal Test?
Does the Harmony Prenatal Test require a special request form?
If a woman has different estimated dates for delivery, which one should be used?
Are there any pre-existing conditions that would make the patient not suitable for NIPT?

Section 7: Collecting a Blood Sample for Harmony

What does sample collection involve?
Does the Harmony collection require special preparation?
Is a booking required for blood sample collection?
Why are blood sample collections restricted to certain collection centres?
Can a patient or doctor cancel a Harmony Prenatal Test?

Section 8: Results and Confirmatory Testing

How long does it take to get a result?
How can I calculate the positive predictive value of Harmony for my patient?
Can maternal weight affect the Harmony Prenatal Test?
Why do some Harmony Prenatal Tests not provide a result?
Is genetic counselling recommended and/or included?
Must a woman have a CVS, amniocentesis or termination of pregnancy?
Why would amniocentesis or CVS be recommended even if the result is normal?
Are Harmony Prenatal Test results confidential?

Section 9: The Cost of the Harmony Prenatal Test

How much does the Harmony Prenatal Test cost?
Is there a Medicare rebate for the Harmony Prenatal Test?
Is there a refund if the Harmony Prenatal Test fails?
Why is the price of the Harmony Prenatal Test different to other types of NIPT?

Section 10: Glossary