Dr Jay Marlow

Non-Invasive Prenatal Screening

 

This blood test uses cell-free fetal DNA (cfDNA) found in maternal blood to identify the most common chromosome conditions seen in newborns. This test is the most accurate prenatal screening test for Down syndrome and other syndromes. There is no risk of harm to your baby.

 

The Panorama blood test can be performed any time from 9 weeks of pregnancy, as confirmed by a dating scan. You will get your test results quickly within 7-10 days of blood extraction.

 

What are the limitations of NIPS?

NIPT testing does not screen for all fetal abnormalities. NIPS is very specific about the chromosomes it is testing (eg 21,18,13, X and Y). A negative NIPS test does not completely rule out the chromosomal abnormalities that it is testing for but it significantly reduces the chance to <1:10,000. Patients who themselves carry a chromosomal abnormality, who have had a transplant or stem cell therapy, donor eggs are not suitable for NIPS. Please ask, we may have an alternative option.

 

How accurate is NIPS?

Reported detection rates (DR) for trisomy 21 using NIPT are >99% and false positive rates (FPR) are <1%.   Whilst NIPS has emerged as an accurate screening test, it is not considered a diagnostic test at this stage and invasive testing (CVS or amniocentesis) should still be offered to confirm positive NIPS results.

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What does Panorama screen for?

Panorama screens for common genetic conditions that are caused by extra or missing chromosomes in the baby’s DNA:

• Down syndrome (Trisomy 21)
• Edwards syndrome (Trisomy 18)
• Patau syndrome (Trisomy 13)
• Certain sex chromosome abnormalities:

- Turner syndrome (monosomy X)

- Klinefelter syndrome (XXY)
- Jacobs syndrome (XYY)
- Triple X syndrome (XXX)

• Triploidy 

In addition to these chromosomal abnormalities, you can optionally screen for five microdeletion syndromes. Panorama can also tell you the baby’s gender, if you so choose. 

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What are microdeletions?

A small, missing piece of a chromosome is called a microdeletion. Unlike Down syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age. While many microdeletions have little impact on a child’s health or life, there are some that can cause intellectual disabilities and birth defects. Panorama screens for five microdeletion syndromes associated with serious health problems:

• 22q11.2 deletion (DiGeorge) syndrome

• 1p36 deletion syndrome
• Angelman syndrome
• Prader-Willi syndrome

• Cri-du-chat syndrome 

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What results might I get with Panorama?

Low Risk Result:

A Low Risk result indicates that it is unlikely that your baby is a affected by one of the conditions on the Panorama panel. Note, however, that a low risk result does not guarantee a healthy pregnancy as Panorama is not a diagnostic test and only screens for certain conditions.

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High Risk Result:

A High Risk result means that there is an increased risk that your baby has the condition, but it is not certain. Invasive testing during the pregnancy, such as amniocentesis (amnio) or chorionic villus sampling (CVS), or testing after the baby is born, can tell you for certain if the baby has the condition. Speak with your healthcare provider about your follow-up options.

 

No Result:

In a small percentage of cases, Panorama may not be able to obtain sufficient information from your blood sample to determine an accurate result. If this occurs, a second blood sample may be requested. 

 

How much is NIPT?

The Panorama cell-free DNA prenatal test is $650 NZ. This cost is subject to change.  

 

 

For further information visit http://natera.com/panorama-test  or call the rooms to make an appointment