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Why Generation NIPT Test is the Preferred Prenatal Screening Choice for Expecting Mums

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Embarking on a pregnancy journey is both exciting and filled with important decisions. One such decision is selecting the appropriate prenatal screening to ensure your baby’s health. Generation NIPT (Non-Invasive Prenatal Testing) has become a preferred choice for many expectant mothers, offering a safe and accurate method to screen for certain genetic conditions. Among the available options, the Generation NIPT test stands out for its comprehensive analysis and timely results.

What is a NIPT Test?

NIPT is a simple blood test that analyses small DNA fragments from the placenta circulating in the mother’s bloodstream.

The most commonly seen chromosomal changes detected with all Generation options include:

  • Down syndrome – an extra copy of chromosome 21 (called trisomy 21 or T21)
  • Edward’s syndrome – an extra copy of chromosome 18 (called  trisomy 18 or T18)
  • Patau syndrome – an extra copy of chromosome 13 (called trisomy 13 or T13)
  • Specific sex chromosome number changes
  • Fetal sex

The standard Generation test looks at all of these.

Generation NIPT Test DNA
Source: Supplied

It’s important to note that NIPT examines placental DNA, which usually matches the baby’s DNA but not always. In rare cases, abnormalities may appear in the placental DNA but not in the baby, leading to false-positive results. Therefore, a positive NIPT result should be followed by genetic counselling and confirmatory diagnostic procedures like amniocentesis.

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How do I get an NIPT Test?

Many pathology providers offer the NIPT test nationally; however, not all providers offer the same results, accuracy, and turnaround times. Our pick is Genomic Diagnostics, the national genetics laboratory for the Healius Pathology network, which includes:

  • Queensland: QML Pathology
  • New South Wales/ACT: Laverty Pathology
  • Victoria: Dorevitch Pathology
  • Tasmania: TML Pathology
  • South Australia: Abbott Pathology
  • Western Australia/Northern Territory: Western Diagnostic Pathology

Genomic Diagnostics offers a comprehensive range of medical genetic testing services, including reproductive health, pharmacogenomics, haematology, and both inherited and acquired oncology. Their commitment to technological innovation ensures continuous enhancement of test offerings, providing new and clinically relevant genetic tests to improve patient outcomes.

Pathology NIPT Test with pregnant woman
Source: Supplied

7 Reasons to Choose Generation NIPT by Genomic Diagnostics

Maternal Serum Screening vs. NIPT

Traditional maternal serum screening is a more basic test with lower accuracy compared to NIPT. It does not determine the baby’s sex and has a higher false-positive rate, which can lead to unnecessary anxiety and additional invasive testing. NIPT offers a more precise assessment, reducing the likelihood of false positives and the need for invasive procedures.

The Generation NIPT test offers several advantages that make it a compelling choice for expectant mothers:

  1. CONVENIENT: Accessible at nearly 2,000 Healius Pathology collection centres nationwide from as early as 10 weeks of gestation. Plus, with no appointment necessary, you can simply walk in.
  2. SIMPLE AND SAFE:  The test requires only a single blood test, posing no risk to you or your baby.
  3. HIGHLY ACCURATE: Your Generation NIPT offers 99% accuracy for detecting Trisomy 21, Trisomy 18, and Trisomy 13. Plus, they surpass the accuracy of first-trimester maternal serum screening. PLUS, it has the lowest reported test failure rate among NIPT products, reducing the need for retesting and associated stress.
  4. FASTER RESULTS: With a quicker turnaround time of 3–7 days, Generation NIPT ensures a comprehensive, timely, and reliable assessment, empowering you with the information needed to make informed decisions and prepare for your baby’s future.
  5. LOWER FAILURE RATES: The advanced technology used in Generation NIPT results in fewer test failures, reducing the emotional stress and delays associated with retesting.
  6. DETECTION OF MICRODELETION SYNDROMES: Generation Plus can identify multiple microdeletion syndromes, such as DiGeorge syndrome, which might not be detected through standard ultrasounds or may only be diagnosed later in a child’s life.
  7. MORE COMPREHENSIVE SCREENING:  Generation 46 evaluates all 22 pairs of chromosomes and the 2 sex chromosomes, enabling the detection of smaller chromosomal changes that could lead to physical or intellectual abnormalities. This extensive analysis surpasses the scope of many other NIPT options.
NIPT Test Infographic
Source: Adobe Stock

The Importance of Early Detection

Opting for a comprehensive NIPT test, like Generation, allows for the early identification of conditions such as:

  • Trisomy 21: Characterised by developmental delays and intellectual disabilities.
  • Trisomy 18: Associated with severe developmental and health challenges.
  • Trisomy 13: This leads to profound intellectual disability and physical abnormalities.
  • Turner Syndrome: Affects females, causing various developmental issues.
  • Klinefelter Syndrome: Affects males, potentially resulting in physical and reproductive anomalies.

Early detection through NIPT provides parents with valuable time to prepare, seek appropriate medical care, and make informed decisions regarding their pregnancy and the future needs of their child.

NIPT Test Chromosomes
Source: Supplied

Why Should I have the NIPT Test?


How Do I Get an NIPT Test?

STEP 1: See your doctor for a referral.  NIPT testing can provide important health information about your baby. See your doctor, who can discuss the appropriate Generation option with you, and request the test.

STEP 2: Prepare for your collection. Prepayment is required for Generation – you can pay online here. Record your receipt number on the request form and sign the Patient Consent section on the request form before blood collection.

STEP 3: Get your sample collected. You can have your sample collected at one of over 2,000 collection centres.

STEP 4: See your doctor to get your results. Your result is provided to your doctor, who will discuss this with you and take action on any relevant findings. Genetic counselling is offered free of charge for all high-risk results.


I’ve heard of the Harmony Test. Is it the Same as the Generation Test?

Not really. While the Harmony and Generation tests are Non-Invasive Prenatal Tests (NIPTs), they differ in technology, scope, accuracy, and result delivery timeframes. The Harmony Test was developed by Roche, and it, too, screens for common trisomies (21, 18, 13). It also offers optional analysis for sex chromosome aneuploidies and specific microdeletions. Turnaround time is typically 5–10 days (so longer than the Generation Test), and because it uses a different technology than Generation, it leans itself to higher failure rates, which may then require doing the test again.

In summary, while both tests assess the risk of chromosomal conditions, Generation NIPT offers broader screening options, faster results, and a lower chance of a test failure. If you already have a Harmony referral, you can still choose the Generation NIPT by purchasing it on the Genomic Diagnostics website and attend one of the Healius Pathology Network collection centres.

I Have a High-Risk Result – What Now?

A positive or high-risk NIPT result does not confirm a diagnosis but indicates an increased risk of a chromosomal abnormality. In such cases, genetic counselling is essential to understand the implications and discuss diagnostic options to confirm results, such as amniocentesis, which is typically performed between 15–16 weeks of gestation. It’s important to note that amniocentesis is an invasive procedure with a small risk of miscarriage (approximately 1%).


So Where to From Here?

Choosing the right prenatal screening test is an important decision for expectant mums. The Generation NIPT offers a comprehensive, timely, and reliable assessment of potential chromosomal abnormalities, empowering parents with the information needed to make informed choices and prepare for the future. To get started:

MUM CENTRAL READER OFFER!
OFFER: SAVE 10% OFF 
FOR: GENERATION TEST
OR: GENERATION 46 TEST
CODE:  MCB10K769
EXPIRY:1 JULY 2025

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This is a sponsored article for Genomic Diagnostics.

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Belinda's a passionate advocate for community and connection. As the founder of the Mum Central Network she’s committed to celebrating the journey that is Australian parenthood. Mum to two cheeky boys, and wife to her superstar husband, they live a busy but crazy lifestyle in Adelaide. Great conversation, close friends and good chocolate are her chosen weapons for daily survival. Oh, and bubbles. Champagne is key.

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