All scans and blood draws are performed by trained personnel
Advance 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 Absolute 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)
- 6 syndromes of deletion and duplication
DiGeorge syndrome 2
DiGeorge syndrome 2 involves cardiac malformations, hypoparathyroidism, T-cell immunodeficiency, and facial dysmorphism. These features overlap with the anomalies reported in the 22q11.2 deletion syndrome (DiGeorge syndrome). In addition, other common features also include an abnormally shaped skull, abnormally small head size (microcephaly), hand and foot abnormalities, a long face, a high forehead, a broad nasal bridge, genitourinary anomalies, severe psychomotor retardation, and hearing loss, resulting in a clinical picture that clearly differs from that of the DiGeorge syndrome. However, because of several similarities in the abnormalities observed in individuals with deletions 22q11.2, the syndrome is often referred to as DiGeorge syndrome 2.
1p36 microdeletion syndrome
1p36 deletion syndrome is characterized by characteristic craniofacial features, intellectual disability, seizures, skeletal abnormalities, and brain and cardiac defects. Prenatal ultrasound may identify certain structural anomalies such as cardiac defects, agenesis of corpus callosum, hydrocephalus, and microcephaly. However, a normal ultrasound does not rule out the underlying anomaly. Lifespan is variable but can be normal.
Angelman syndrome/Prader-Willi syndrome (15q11-q13 deletion syndrome)
Prader-Willi syndrome (PWS) is a genetic syndrome that causes difficulty feeding and failure to thrive in infancy, with obesity, developmental delay, and other medical problems as the child gets older. It affects approximately 1 in 10,000 to 1 in 25,000 new-borns. NIPT is able to detect PWS caused by a deletion, which accounts for approximately 70% of cases; the remaining cases are caused by different underlying molecular mechanisms. Deletion in PWS is on the paternally inherited chromosome.
Angelman syndrome (AS) is a rare genetic syndrome that includes intellectual disability and other serious medical problems. It affects approximately 1 in 12,000 to 1 in 20,000 new-borns. NIPT is able to detect AS caused by a deletion, which accounts for approximately 68% of cases; the remaining cases are caused by different underlying molecular mechanisms. Deletion in AS is on the maternally inherited chromosome.
People with Prader-Willi syndrome have severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity. Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment and may also have behaviour problems. Prenatal ultrasounds are usually normal; however, decreased fetal movement and breech position may be seen. A normal lifespan is expected.
Common features in individuals with Angelman syndrome include intellectual disability, severe developmental delay, speech impairment, ataxia, seizures, and dysmorphic features. Prenatal ultrasound is usually normal. A normal lifespan is expected.
Prader-Willi-like syndrome (SIM1 syndrome)
Prader-Willi-like syndrome is characterised by diminished foetal activity, obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet.
Cri-du-chat syndrome (5p deletion syndrome)
5p deletion syndrome, also known as Cri-du-chat syndrome, is a genetic syndrome characterized by birth defects, intellectual disability, and other serious medical issues. Key features of this syndrome include significant intellectual disability, speech delay, cat-like cry, dysmorphic features, cardiac defects, and microcephaly. There is a 10% mortality rate in the first year. Approximately 1 in 20,000 to 1 in 50,000 live births have this condition.
4p16.3 deletion syndrome (Wolf-Hirschhorn syndrome)
Wolf-Hirschhorn syndrome is a rare genetic syndrome characterized by birth defects, intellectual disability, and other serious medical issues. Key features of this syndrome include prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment, typical craniofacial features in infancy consisting of the characteristic appearance of the nose, microcephaly, intellectual disability of variable degree, seizures, skeletal abnormalities, congenital heart defects, hearing loss (mostly conductive), urinary tract malformations, and structural brain abnormalities.
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 are deletion and duplication syndromes?
Each cell in the human (except reproductive cells) body contains 46 chromosomes (we get 23 from our mother and 23 from father). Having too much or too few chromosomes means that our body has too many or too few genes or ‘genetic instructions’. This results in abnormalities such as trisomies (Down, Edwards, and Patau syndrome) or abnormalities in the sex chromosomes (including Klinefelter, Turner, Jacobs, and Triple X syndrome). However, the number of chromosomes may be typical, but there might be missing or duplicated fraction of the chromosome. This is called deletion or duplication. Because such changes are tiny, they are often difficult to detect before birth. NIPT test technology, however, scans all chromosomes and can detect up to 92 deletion and duplication syndromes.
Deletion
A chromosomal deletion occurs when a fragment of the chromosome is lost. It can happen on any chromosome and can be of different size. The result of chromosomal deletion is the loss of genetic material, which normally provides instructions for the body. The consequences of the deletion depend on the size of the lost part and its location on the chromosome: in other words, what information did this missing fragment of genetic matter contain.
Duplication
Chromosomal duplication is the opposite of deletion: it is the doubling of a part of the chromosome. As a result, the body has too much genetic material or (instructions.). The consequences of a duplication also depend on the size and location of the duplicated part of the chromosome.
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