Non-invasive prenatal testing (NIPT)

Why Non-invasive Prenatal Testing (NIPT)?

Generation is non-invasive prenatal testing (NIPT) that screens for chromosomal changes that can affect your baby's future health.

NIPT uses a blood sample from the mother to determine the chance of a chromosomal condition in the developing baby from as early as the 10th week of pregnancy. Generation is highly accurate and safe, and may help avoid more invasive prenatal testing by amniocentesis and chorionic villus sampling.

Three NIPT options are available: Generation, Generation 46 and Generation Plus. All options provide information on the chance that your baby is affected by common chromosomal conditions including Down syndrome. Your doctor can advise on the best Generation test for your personal circumstances.

Introducing the Generation screen

• You can have an NIPT blood test as early as 10 weeks.
• NIPT is the most accurate prenatal screening test available for Trisomy 21, 18 & 13.
• All screens are analysed in an accredited laboratory. Generation and Generation 46 are performed in our accredited Australian laboratory. If a Generation Plus test is requested, your sample will be sent to an accredited laboratory in California.
• The lowest reported test failure rate of any NIPT.
• Doctors will receive results within 3 - 7 business days of sample arriving at the Genomic Diagnostics laboratory for Generation and Generation 46, and 11 - 15 business days of sample arriving at the overseas laboratory for Generation Plus.
• Only a single tube of blood is drawn.

What should I take the Generation test?

Simply because it can be used to obtain important and accurate information about the health of your developing baby in the first trimester (at 10 weeks), with little or no risk to the pregnancy.

This screening test may be an option for you if:

• You will be 35 years or older at the time of delivery (32 years or older for a twin pregnancy)
• You have an abnormal or “positive” serum screen
• Your ultrasound has revealed concerns or abnormalities with foetal growth and / or development
• You have a personal or family history suggestive of a chromosome disorder (eg. Down syndrome)

What’s more, clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, be given the opportunity to take an NIPT and other available prenatal screening and diagnostic tests.

How does the Generation test work?

During pregnancy, some of the baby’s DNA from the placenta crosses into your bloodstream. After your blood test, the Generation NIPT tests this DNA to identify certain chromosome conditions in your pregnancy. The Generation test takes a deeper approach to the science, using an advanced technology called “Massively Parallel Sequencing” to analyse millions of DNA fragments per sample and accurately count the number of chromosomes present to determine if there are too many or too few copies of the tested chromosomes in your baby.

What conditions are covered by Generation?

All Generation options look for too few (missing) or too many (extra) copies of chromosomes.

The most commonly seen and accurately 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.

What conditions are covered by Generation 46?

The Generation 46 option of the NIPT range of tests screens for gains and losses of all 46 chromosomes (pairs 1 through 22 plus the sex chromosomes X and Y), including trisomy 21, 18 and 13, and the sex chromosome number changes in the standard Generation option.

It not only screens for extra or missing whole chromosomes but also for extra or missing parts of the baby’s chromosomes.

Changes in chromosomes other than 21, 18, 13, X and Y are rare, but can provide your doctor with important information on the health of your pregnancy.

What conditions are covered by Generation Plus?

The Generation Plus option screens for all conditions included in the standard Generation option as well as a range of specific small microdeletion syndromes (where small bits of the chromosome are missing):

• 22q11 deletion (DiGeorge syndrome)
• 15q11 (Angelman/Prader-Willi syndrome)
• 1p36
• 4p (Wolf-Hirschorn syndrome)
• 5p (Cri-du-chat syndrome)

It does not look at all chromosomes.