All scans and blood draws are performed by trained personnel
Standard NIPT
(Early Pregnancy scan included)
Non-Invasive Prenatal Testing (NIPT) is a cutting-edge screening method used during pregnancy to detect certain genetic conditions in a developing fetus.
What is NIPT?
Non-Invasive Prenatal Testing (NIPT) involves analysing small fragments of fetal DNA that are circulating in the pregnant woman’s blood. This cell-free DNA (cfDNA) can be extracted and examined to assess the risk of certain genetic conditions, such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13 in pregnancies as early as 10 weeks gestation
Key Features of NIPT
- Non-Invasive: Unlike invasive methods like amniocentesis or chorionic villus sampling (CVS), NIPT involves only a simple blood draw from the mother, posing no risk to the fetus and reducing chance of miscarriage.
- Early Testing: NIPT can be performed as early as the 10th week of pregnancy, allowing for timely decision-making
- High Accuracy: The test is highly accurate for detecting common chromosomal abnormalities.
Conditions screened by Advance NIPT
- Down’s syndrome (trisomy 21): The presence of an extra chromosome 21.
- Edwards’ syndrome (trisomy 18): The presence of an extra chromosome 18.
- Patau’s syndrome (trisomy 13): The presence of an extra chromosome 13.
- Sex Chromosome Aneuploidies: Conditions involving the X and Y chromosomes, such as:
- Turners’ syndrome (monosomy X0)
- Klinefelter’s syndrome (XXY)
- Jacob’s Syndrome (XYY)
- Triple X Syndrome (XXX)
How accurate is NIPT?
NIPT is extremely accurate. Results identify 99.9% of pregnancies with trisomy 21, trisomy 18, or trisomy 13 and provides fewer false-positive and false-negative results than combined first trimester screening
Who can take the test?
All pregnant women, irrespective of age or risk, who are 10 weeks or more into their pregnancy (subject to confirmation of pregnancy viability).
Who should consider the test?
- Women of advanced maternal age (35 or older)
- Those with a family history of chromosomal abnormalities
- Pregnancies identified as high-risk based on other screening tests or ultrasound findings
What are the limitations of NIPT?
There are a few limitations in specific cases:
- Gestational age at draw less than 10 weeks
- Number of foetuses: three or more
- Vanishing twin syndrome: less than 8 weeks have passed between the end of the developmental cessation and blood sampling or he developmental cessation occurred after week 8 of pregnancy
- Therapy with heparin or its analogues: less than 24-hour pause before collecting the blood sample
- Pregnant woman has a history of a benign or malignant tumor and is currently affected
- Cellular immunotherapy with exogenous DNA: less than 4-week gap between the last therapy and blood sampling
- Human serum albumin therapy: less than 4-week gap between the last therapy blood sampling
- Blood transfusion: less than 1-year gap between the last therapy blood sampling
- Stem cell therapy
- Organ transplant (maternal)
- Abnormal maternal karyotype (pre-test consultation for each individual case): inversion, translocation, deletion, duplication, and maternal mosaicism
Twin pregnancy limitations: for twin pregnancy only basic trisomies; high probability test results apply to at least one fetus; male test results apply to one or both fetuses; female test results apply to both fetuses.
What are sex chromosome aneuploidies?
Sex chromosome aneuploidies (SCAs) occur when there is a missing, extra, or partial/incomplete sex chromosome (X or Y). The Premium NIPT screens for SCAs such as:
- Turners’ Syndrome (X0): A condition affecting females due to a partially or completely missing sex chromosome. Most individuals can lead a normal life with regular medical care.
- Klinefelter’s Syndrome (XXY): A genetic condition in males with an additional X chromosome. Primary features include infertility and small, poorly functioning testicles.
- Jacob’s Syndrome (XYY): A genetic condition in males with an extra Y chromosome. This chromosomal change sometimes causes no unusual physical features.
- Triple X Syndrome (XXX): A genetic disorder in females characterized by the presence of an additional X chromosome. Affected individuals are often taller than average.
What do NIPT results show?
A Non-Invasive Prenatal Test results show whether there is a high or low chance your baby has trisomy 21, trisomy 18, or trisomy 13. Test results that indicate a high likelihood do not mean that your baby definitely has one of the conditions listed above and, the results must be discussed with your medical practitioner
What does a low-risk result mean?
A low risk means – no anomaly detected for that specific condition which is under study. A LOW-RISK result does not guarantee that a fetus is unaffected by a chromosomal or genetic condition as False Negatives are possible, though the probability is quite low
What does a high-risk result mean?
A high risk means – an anomaly is detected for that specific condition which is under study. Some non-aneuploid fetuses may have HIGH PROBABILITY results i.e., false positives may occur, though the probability of this occurrence is very low. In the event of a HIGH-RISK result and/or other clinical indications of a chromosomal condition, confirmatory testing is necessary for diagnosis
- Complimentary** Early pregnancy scan to confirm the pregnancy viability
- Vein blood withdrawal for fetal DNA abnormalities test
- Sexing of a baby (optional)
PLEASE NOTE: This test is designed strictly for pregnancies that are at least 10 weeks gestation. If gestation is confirmed to be less than 10 weeks, the test will be rescheduled, and an additional charge of £85 for the pregnancy viability confirmation will be applied.
In the unfortunate event that a miscarriage is confirmed during the viability scan, you will only be charged £85 for the Early pregnancy scan and if you have already paid for the test in full, the difference will be refunded.
Non-Invasive Prenatal Testing is a valuable tool in prenatal care, providing crucial information about the genetic health of a fetus with minimal risk. While it has transformed prenatal screening by offering a safer alternative to traditional methods, it remains important to follow up any abnormal NIPT results with confirmatory diagnostic tests such as amniocentesis or chorionic villus sampling (CVS)
No special preparation is required, but please make sure you are well hydrated.
*Turnaround time (working days)
The tests take time to be delivered, prepared and analysed, therefore the turnaround time varies from test-to-test
**Subject to confirmation of pregnancy viability