Non-Invasive Prenatal Screening​

​

NIPT screening is a newer technology often known by the commercial name “Harmony Test”. The test analyses circulating cell-free fetal DNA which have crossed the placenta, detected from a maternal blood sample. 

  

This is a simple blood test from the mother which is safe for both for the mother and the baby, avoiding the risks of miscarriage associated with invasive prenatal testing such as amniocentesis and Chorionic Villous sampling (CVS).  

  

NIPS is available for all unselected/low risk patients, but may be recommended for women over 35 years of age as they are considered “higher risk” for chromosomal abnormalities. Results are usually available within 7 business days, and any patients with positive results will be contacted and genetic counselling arranged.   

 

Spectrum Women’s Imaging is pleased to offer our patients the NIPS blood test as part of our NIPT Package for First Trimester Screening. We have partnered with Laverty Pathology and Genomic diagnostics to offer blood collection and NIPS testing through their Generation suite of NIPT screening options.  

 

Patients have the choice of three Generation NIPT screening options; Generation, Generation 46 and Generation Plus which all provide screening for the most common chromosomes 13, 18, 21 and if requested sex chromosomes, plus more. 

 

To read more about the three Generation screening options that are available to choose from, please visit the Genomic Diagnostics website: Generation NIPT Test Options | Genomic Diagnostics Australia 

 

We offer a one-stop service on the day 

• Viability scan 

• Blood collection

 

A medical referral is required from your doctor for Nuchal Translucency Screening or NIPT Package (requesting blood test and scans).   

 

The NIPT screening blood test is available from 11 weeks and can be performed following an ultrasound on the same day to confirm the fetal size and presence of the fetal heartbeat.  This is a screening test and not a definitive diagnostic test. It identifies Trisomy 21 (Down’s Syndrome) in greater than 99 % of cases, Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome) in greater than 98% of cases. 
 

It is essential that an ultrasound is also performed at 13 weeks (in addition to the 19-21 week morphology scan) to assess for structural abnormalities that would not be detected with the blood test (and that may not be evident on earlier scans) This is offered at Spectrum Women’s Imaging as part of our NIPS package. 

​

Do I still need the first trimester screening bloods/PAPP-A and free BHCG (those taken as part of the nuchal translucency scan) if having the NIPS?

​

The recommendations are that if a NIPS blood test is being performed that these blood tests are no longer necessary. If your obstetrician or GP requests these for a specific reason then we can perform these at the same time as your NIPS at a small additional cost.

​

How long do the results take?

Your results will most likely be available within 5 working days (Generation Plus screening results will take longer). One of our staff members will contact you with the results.

Is there a chance that the test won’t work?

Sometimes the initial blood sample may be inadequate. This may be due to technical problems. If this occurs we will contact you and arrange for you to have an additional sample collected at no extra charge.

​

How do I get the test?

We offer the blood test at our conveniently located Spectrum Women’s Imaging Centre in Randwick. Your doctor will request this test along with a viability scan (to check your baby has a heart beat and that your dates are correct) performed beforehand on the same day. 

​​

How do I know which Generation screening option to choose? 

 

All three Generation screening options can be performed on singleton, egg donor and surrogate pregnancies. Testing is available for twin pregnancies for Generation and Generation 46, but excludes SCA screening and fetal sex determination. Please discuss the screening options with your referring practitioner and together you can decide which option is best for you. Please see the information booklet for more information.

​

What will the results say?

A positive result indicates that the lab has detected one of the chromosomal abnormalities tested. This does not definitely mean that your baby has this abnormality. Further definitive testing is required. You will be contacted by a genetic counsellor regarding the results. The counsellors we use are highly trained and experienced in speaking with people about genetic conditions and testing. You may be advised to consider further testing such as chorionic villous sampling (CVS) or amniocentesis to confirm or disprove the result. You will be assisted to arrange this if required.

A negative result means that none of the above listed chromosomal conditions have been detected by this test. Therefore no further invasive testing is required, however, it is important to talk to your Doctor about follow up scans at 13 weeks and 19-21 weeks to check for any other fetal anomalies and structural defects. These scans are essential for further assessment of the health of your baby. We offer both at Spectrum Women’s Imaging.

​

What is the 13 week structural scan?

Even if your NIPS result comes back as negative it is essential that a structural scan is carried out at 13 weeks. This is because the NIPS blood test does not give information on other chromosomal abnormalities or conditions that your baby may have. This scan assesses the baby’s head, abdomen, bladder, spine and limbs looking for early signs of abnormalities within these structures. The fluid sac behind the baby’s neck (nuchal translucency) is also measured (like in a dedicated nuchal translucency scan) as this can be increased in other chromosomal abnormalities and medical conditions such as heart defects. We offer this scan as part of our NIPS package.

​

It is recommended that in addition to your Harmony® non-invasive prenatal testing (NIPT) test, you have ultrasounds of your baby at 13 weeks and 19-21 weeks.

​

Please click here for the Non-Invasive Prenatal Screening patient information booklet by Genomic Diagnostics.