At Fusion Healthcare, we know offer NIPT blood testing, a screening test which aims to detect congenital abnormalities in the foetus’s DNA.
NIPT (Non-invasive prenatal testing) tests use a pregnant person’s blood to assess for any abnormalities of the foetus’s DNA. The DNA is tested for genetic conditions, like down syndrome. NIPT screens for the presence of specific chromosome disorders in the developing foetus. NIPT tests do not diagnose, instead they provide your healthcare provider with an indication of how likely it is that the condition exists. This test can be done after 10 weeks of pregnancy.
This test can also predict the sex of the foetus. The blood taken from the mother contains fragments of DNA from the foetus which have been released from both maternal and placental cells. This gives healthcare providers a glimpse into the genetic makeup of the foetus. The blood sample is sent to the lab and is analysed for specific congenital disorders. NIPT cannot screen for all chromosomal or genetic disorders.
NIPT requires a single blood draw, which poses no threat to the foetus, and can be done as early as 10 weeks’ gestation. By analysing the proportions of DNA fragments derived from different chromosomes or chromosome regions, NIPT can screen for the presence or absence of specific chromosome disorders. NIPT is highly valuable as part of early screening as it is more accurate than first trimester maternal serum screening and ultrasound in identifying pregnancies with or without these disorders.
NIPT is optional and not everyone needs it, however, your healthcare provider may recommend this kind of testing if you have previously had a child with a chromosomal abnormality or have had an ultrasound or an earlier screening which suggests a potential abnormality or problem. NIPT can prove beneficial to all pregnant people, regardless of risk.
Some of the benefits of NIPT include:
This form of testing is done as part of screening and is not diagnostic, any positive result obtained should be confirmed by further testing. At Fusion Healthcare we have a range of diagnostic tests that may accompany the NIPT, additionally you can book a consultation with out in-house private Gp to discuss next steps.
Screening for 92 Microdeletion Syndromes
Expanded Genetic Screening for Rare Chromosomal Conditions
At Fusion Healthcare, expanded NIPT screening options may include analysis for up to 92 microdeletion syndromes, offering a broader assessment of selected chromosomal abnormalities beyond the three common trisomies.
Microdeletions occur when a small segment of genetic material is missing from a chromosome. Although these missing sections may be too small to identify through conventional chromosome analysis, they can sometimes affect important genes involved in normal growth and development.
Depending on the chromosome region affected, microdeletion syndromes may be associated with developmental delays, learning disabilities, congenital abnormalities, neurological conditions or other medical complications.
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NIPT can usually be performed from 10 weeks of pregnancy. Testing before this stage may not provide sufficient placental cell-free DNA for reliable analysis. Eligibility may also depend on factors such as the type of pregnancy and the selected laboratory test.
Microdeletion syndromes are genetic conditions caused by missing small sections of chromosomal DNA. Certain expanded NIPT packages may screen for up to 92 specified microdeletion syndromes, potentially including conditions such as DiGeorge syndrome, 1p36 deletion syndrome and Cri-du-chat syndrome. The precise list depends on the laboratory panel. Screening for these rare conditions is less established than screening for Down syndrome, and any higher-chance finding requires further assessment and diagnostic confirmation.
Yes. NIPT only requires a blood sample from the pregnant mother and does not involve any direct procedure on the baby or placenta. The blood collection itself carries no procedure-related risk of miscarriage. However, screening may produce uncertain or false-positive results, particularly for rare conditions, so understanding the limitations before testing is important.
At Fusion Healthcare Ltd, we are committed to supporting expectant parents with professional prenatal screening services and clear information throughout their pregnancy journey.
Whether you are interested in standard NIPT screening, expanded chromosomal screening or learning more about the available genetic testing options, our team is here to help.
Contact Fusion Healthcare today to enquire about NIPT packages, eligibility, pricing and appointment availability.
