PrenatalSAFE Complete Plus NIPT Blood Test
£
20% off with code BFBL20
Biomarkers Included with the PrenatalSAFE Complete Plus NIPT Blood Test blood test
Scroll down for more information about each biomarker
All Chromosome Screen
9 Microdeletions
5 Inherited Genetic Disorders
44 De Novo Disorders
Down Syndrome
Edwards Syndrome
Patau Syndrome
Turner Syndrome
Klinefelter Syndrome
Jacob’s syndrome
Angelman Syndrome
Cri-du-chat Syndrome
Digeorge syndrome
Jacobsen syndrome
Langer-Gieldon Syndrome
Prader-Willi Syndrome
Smith-Magenis Syndrome
Wolf-Hirschhorn Syndrome
1p36 deletion Syndrome
Cystic Fibrosis Screen
Deafness (2 common types)
Osteogenesis Imperfecta
Noonan Syndrome
Ehlers-Danlos Syndrome
Achondroplasia
Why choose us for your PrenatalSAFE Complete Plus NIPT Blood Test
About the PrenatalSAFE Complete Plus NIPT Blood Test blood test
The PrenatalSAFE Complete Plus NIPT blood test is one of the most advanced, thorough, non-invasive blood tests available for expectant mothers, offering insights into a wide variety of health conditions that may impact your baby. It also provides early gender identification, allowing you to learn the sex of your baby as early as 10 weeks into your pregnancy.
This advanced blood test sometimes referred to as the “Safe Test,” analyses your blood for traces of your baby’s DNA and screens for the following conditions:
- All chromosomes screened for aneuploidies
- Down syndrome (Trisomy 21)
- Edwards syndrome (Trisomy 18)
- Patau syndrome (Trisomy 13)
- Sex Chromosome Aneuploidies
- Turner syndrome (Monosomy X)
- Klinefelter syndrome
- Jacobs syndrome
- Rare autosomal aneuploidies
- Genetic deletions and duplications
- 9 Microdeletion syndromes including
- Angelman syndrome
- Cri-du-chat syndrome
- DiGeorge syndrome
- Prader-Willi syndrome
- Angelman
- Jacobson syndrome
- Langer-Gieldon syndrome
- Smith-Magenis syndrome
- Wolf-Hirschhorn syndrome
- 1p36 deletion syndrome
- 5 Inherited Genetic Conditions, including
- Deafness (2 most common types)
- Thalassemia
- Sickle Cell Anemia
- Cystic Fibrosis.
- 44 De Novo Conditions, which occur spontaneously during conception or fertilisation.
- Gender Identification
The PrenatalSAFE Complete Plus NIPT blood test offers a thorough and highly accurate early screening option for expectant mothers, starting at 10 weeks of pregnancy. It is suited to single pregnancies, conceived naturally or using IVF/donor eggs, and provides free access to expert genetic counselling if any conditions are identified.
The NIPT test itself involves a simple and safe blood test which does not pose any risks to the expectant mother or fetus. It is currently one of the safest methods to screen genetic health conditions before giving birth.
Unlike standard tests offered to high-risk mothers by the NHS, this test delivers a more detailed analysis and is accessible to all pregnant women, regardless of their risk status. The test is performed in one of Europe’s leading laboratories with results as early as 12-24 days.
What are aneuploidies
Aneuploidies are genetic conditions in which there is an abnormal number of chromosomes in a person’s cells. Humans normally have 46 chromosomes (23 pairs), but with aneuploidies, there can be extra or missing chromosomes. This imbalance can disrupt normal development and lead to a variety of physical, intellectual, and health-related conditions.
- Down syndrome (Trisomy 21): an extra copy of chromosome 21.
- Turner syndrome (Monosomy X): a missing X chromosome in females.
- Klinefelter syndrome: an extra X chromosome in males (XXY).
Aneuploidies can occur randomly during the formation of eggs or sperm or during early embryonic development.
How Do Aneuploidies Occur
Aneuploidies arise due to errors during cell division, either in meiosis (when eggs or sperm are formed) or mitosis (when cells divide in a growing embryo). Normally, chromosomes are supposed to separate evenly, but in aneuploidy, this process goes wrong, leading to cells with an abnormal number of chromosomes.
Types of Aneuploidies
Trisomy
This occurs when there is an extra chromosome in the cells, resulting in 47 chromosomes. Examples include:
- Down syndrome (Trisomy 21): An extra copy of chromosome 21, leading to developmental delays, intellectual disabilities, and physical features like characteristic facial traits.
- Edwards syndrome (Trisomy 18): An extra chromosome 18, often causing severe developmental delays and physical malformations.
- Patau syndrome (Trisomy 13): An extra chromosome 13, which leads to severe intellectual disabilities and physical abnormalities.
Monosomy
This is when one chromosome is missing, resulting in 45 chromosomes. An example is:
- Turner syndrome (Monosomy X): Females have only one X chromosome instead of two, leading to short stature, infertility, and certain heart and kidney problems.
- Monosomy 7: This condition occurs when a person is missing one copy of chromosome 7. It is associated with an increased risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukaemia (AML), which are blood and bone marrow disorders.
- Cri-du-Chat Syndrome: Part of chromosome 5 is missing (known as 5p-). This condition is characterised by intellectual disability, delayed development, and a distinctive high-pitched cry in infants.
Sex Chromosome Aneuploidies
Sex chromosome disorders are genetic conditions caused by abnormalities in the number or structure of the sex chromosomes, which are the X and Y chromosomes. Typically, humans have two sex chromosomes: females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, when there is an extra or missing sex chromosome or a structural change in the sex chromosomes, it can lead to various developmental and reproductive issues, known as sex chromosome disorders.
Examples include:
- Turner syndrome (45, X): A female is missing one X chromosome, resulting in a total of 45 chromosomes instead of the usual 46 which can lead to short stature, delayed puberty, infertility, heart defects, and certain learning difficulties.
- Klinefelter syndrome (XXY): Males have an extra X chromosome, which can lead to symptoms like reduced testosterone, infertility, and learning difficulties.
- Jacobs syndrome (XYY): Males have an extra Y chromosome, often resulting in taller stature and possibly some learning and behavioural difficulties.
- Triple X Syndrome (47, XXX): A female has an extra X chromosome, resulting in 47 chromosomes with often mild effects, but can include tall stature, learning disabilities, and sometimes fertility issues.
Effects of Aneuploidies
The severity of symptoms caused by aneuploidies can vary widely depending on the specific chromosomes involved. Some aneuploidies are compatible with life but may cause physical and intellectual challenges, while others can be lethal, resulting in miscarriage or early death.
Detection & Diagnosis of Aneuploidies
Aneuploidies can be detected during pregnancy through prenatal screening tests such as the PrenatalSafe Complete plus test, which analyses fetal DNA in the mother’s blood to identify chromosomal abnormalities. Diagnostic tests like amniocentesis or chorionic villus sampling (CVS) can confirm the presence of aneuploidies.
What are Microdeletions?
Microdeletion syndromes are genetic disorders caused by the deletion of small segments of chromosomes, often involving multiple genes. These deletions are too small to be detected by conventional karyotyping but can be identified through more advanced genetic tests such as chromosomal microarray analysis or FISH (fluorescence in situ hybridization). The loss of these genes can lead to a variety of physical, developmental, and intellectual challenges, depending on which genes are affected.
Examples include:
- DiGeorge Syndrome (22q11.2 Deletion Syndrome): Deletion of a small part of chromosome 22 which may lead to heart defects, immune system problems, developmental delays, cleft palate, and learning difficulties.
- Williams Syndrome: Deletion of part of chromosome 7 which may be associated with certain intellectual disabilities, distinctive facial features, heart problems, and overly friendly social behaviour.
- Prader-Willi Syndrome: Deletion on the paternal chromosome 15 which may be associated with poor muscle tone, difficulty feeding in infancy, intellectual disabilities, and later overeating leading to obesity.
- Angelman Syndrome: Deletion on maternal chromosome 15 that may cause severe developmental delays, seizures, balance problems, and a happy, excitable demeanour.
- Cri-du-Chat Syndrome (5p- Syndrome): Deletion of a part of the short arm of chromosome 5 which often is characterised by a cat-like cry in infants, intellectual disability, delayed development, and distinctive facial features.
Detection & Diagnosis of Microdeletions
Microdeletion syndromes are diagnosed and detected using specialised genetic tests, such as NIPT tests, that are capable of identifying very small chromosomal deletions. These deletions are too small to be detected with traditional genetic testing methods like karyotyping. NIPT analyses fragments of fetal DNA circulating in the mother’s blood during pregnancy. The prenatalSAFE complete plus NIPT blood test can detect 9 key microdeletions.
What are De Novo Disorders?
De novo disorders are genetic conditions caused by new mutations in a person’s DNA that are not inherited from either parent.
The term “de novo,” meaning “new,” reflects that these mutations occur spontaneously, usually during the formation of reproductive cells (sperm or egg) or very early in embryonic development. These mutations are not passed down from parents but happen by chance during conception or in the early stages of development. As a result, the affected individual will be the first in their family to have this particular genetic change, although they may potentially pass it on to their own children.
De novo disorders can encompass a variety of conditions, often leading to developmental delays, intellectual disabilities, physical abnormalities, or other medical issues. An example of a genetic De Novo syndrome is Achondroplasia, which causes a type of short stature, commonly known as dwarfism.
What does the prenatalSAFE Complete NIPT blood test involve
After your booking is confirmed, we will reach out to schedule a pre-test consultation with a specialist. During this appointment, we will discuss the test in detail and address any questions you may have. Following this, we will arrange a second appointment for the NIPT test itself. The procedure is straightforward, safe, and minimally invasive, requiring only a small sample of blood from the mother’s arm, similar to a routine blood test.
If feasible, we also recommend collecting a saliva sample from the father to further enhance the accuracy of the test results.
Who can have the PrenatalSAFE Complete NIPT Blood Test?
Expectant mothers who wish to have the prenatalSafe complete NIPT blood test must
- be at least 10 weeks pregnant
- have had a recent or first pregnancy ultrasound scan
- be carrying a single pregnancy (or identical twins)
Who can not have the PrenatalSAFE Complete NIPT Blood Test?
This test is unsuitable for mothers with
- No previous pregnancy ultrasound scan
- Under 10 weeks pregnant
- multiple pregnancy (triplets, non-identical twins)
- history of stem cell, bone marrow or solid organ transplant, blood transfusion, cancer, neoplasm, Immuno-therapy, maternal mosaicism, copy number variations
- fetal demise / a vanished twin less than 5 weeks prior to the test
- Fetoplacental mosaicism/confined placental mosaicism (mosaicism is a biological limitation that we cannot circumvent)
Biomarker information for PrenatalSAFE Complete Plus NIPT Blood Test blood test
All chromosomes from 1-22 + sex chromosomes screened for aneuploidies and structural abnormalities such as deletions and duplications. Rare autosomal aneuploidies, Genetic deletions & duplications
Inherited genetic disorders are health conditions caused by changes in genes that are passed down from parents to their children.
- Autosomal Dominant Disorders: Only one parent needs to pass on the faulty gene for the child to have the condition. Example: Huntington’s disease.
- Autosomal Recessive Disorders: Both parents need to pass on a faulty gene for the child to be affected. Carriers have one faulty gene but usually don’t show symptoms. Example: Cystic fibrosis.
- X-Linked Disorders: The faulty gene is on the X chromosome. These can affect both boys and girls, but boys usually have more severe symptoms. Example: Hemophilia.
- Mitochondrial Disorders: These are caused by problems in the energy-producing parts of cells and are passed from the mother. Example: Leber’s hereditary optic neuropathy.
These conditions can vary in how they affect people, from mild to severe.
De novo disorders are genetic conditions that occur for the first time in a family. They are caused by new mutations (changes) in a person’s genes that were not inherited from either parent. These mutations happen randomly and are not present in the parent’s genetic material. As a result, the condition appears unexpectedly in the child, even though the parents are not affected.
Down syndrome is a genetic condition where a person is born with an extra chromosome (chromosome 21). This can affect how their brain and body develop. People diagnosed with Down syndrome can lead healthy lives with supportive care.
Edwards syndrome, also known as trisomy 18, is a rare genetic disorder that occurs when a baby has an extra copy of all or part of chromosome 18 in some or all of their cells. It affects many parts of the body and is usually life-limiting, with low survival rates. Babies born with Edwards syndrome will have learning disabilities and a range of physical challenges
Patau syndrome, also called trisomy 13, is a rare genetic disorder that occurs when all or some cells of the body contain an extra copy of chromosome 13.
Turner syndrome, also called monosomy X, is a condition in girls where one of the two X chromosomes is missing or incomplete. This can lead to shorter height, delayed puberty, and difficulties with fertility. Some may also have heart or kidney problems, but with the right care, girls with Turner syndrome can live healthy lives.
Klinefelter syndrome is a condition in males where they have an extra X chromosome (XXY instead of XY). This can lead to symptoms like taller height, less muscle, and difficulty with puberty and fertility. Some may also have learning difficulties.
Angelman syndrome is a genetic disorder that affects the nervous system and causes severe developmental delays. People with Angelman syndrome often have difficulty speaking, struggle with movement and balance, and may have frequent smiling or laughter. They may also experience seizures and have trouble sleeping. Although individuals with Angelman syndrome need lifelong care, they can live happy lives and often have a friendly and social personality.
Cri-du-chat syndrome is a rare genetic disorder caused by a missing piece of chromosome 5. The name means “cry of the cat” in French, which refers to the distinctive, high-pitched cry of infants with the condition that sounds like a cat’s meow. Children with Cri-du-chat syndrome often have developmental delays, intellectual disabilities, and distinctive facial features. They may also have problems with speech and motor skills. While the severity of symptoms can vary, individuals with Cri-du-chat syndrome can live into adulthood with the right support and care.
Jacobsen syndrome is a rare genetic disorder caused by the deletion of a piece of chromosome 11. This condition can lead to a variety of health and developmental issues, including intellectual disabilities, developmental delays, and distinctive facial features. Children with Jacobsen syndrome often have heart defects, bleeding disorders, and issues with growth and coordination. The severity of symptoms can vary, but individuals with Jacobsen syndrome typically require ongoing medical care and support to manage their condition.
Prader-Willi syndrome is a genetic disorder that affects many parts of the body. It is caused by missing or altered genes on chromosome 15. People with Prader-Willi syndrome often have a constant feeling of hunger, which can lead to overeating and obesity. They may also have developmental delays, intellectual disabilities, and issues with muscle tone and coordination. Other common features include short stature, hormonal imbalances, and behavioural problems. With proper medical care and support, individuals with Prader-Willi syndrome can manage their symptoms and lead productive lives.
Smith-Magenis syndrome is a genetic disorder caused by a deletion or mutation on chromosome 17. It leads to a range of symptoms including developmental delays, intellectual disabilities, and distinctive facial features. People with Smith-Magenis syndrome often have behavioural issues, such as sleep disturbances and impulsivity, and may experience problems with their physical health, like heart defects or hearing loss.
Wolf-Hirschhorn syndrome is a rare genetic disorder caused by a deletion of a portion of chromosome 4. It is characterized by a range of physical and developmental issues, including distinctive facial features, severe developmental delays, and intellectual disabilities. Children with Wolf-Hirschhorn syndrome may also have congenital heart defects, growth delays, and difficulties with motor skills. The severity of symptoms can vary from person to person.
Cystic fibrosis is a genetic disorder that affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which leads to the production of thick, sticky mucus. This mucus can clog the airways in the lungs, causing persistent coughing, lung infections, and difficulty breathing. It can also block the pancreatic ducts, leading to digestive problems and difficulty absorbing nutrients. Symptoms of cystic fibrosis include chronic cough, frequent lung infections, poor growth, and digestive issues. While there is no cure, treatments such as medications, physical therapy, and a specialized diet can help manage symptoms and improve quality of life.
Screening for the two most common forms of deafness which involves hearing loss as the only symptom. It is often caused by mutations in specific genes related to hearing.
Osteogenesis imperfecta (OI) is a genetic disorder that makes bones fragile and prone to breaking easily. People with OI often have frequent fractures, even from minor injuries or no apparent cause. They might also have symptoms like bone deformities, short stature, and, in some cases, problems with their hearing or teeth. The severity of the condition can vary, and while there is no cure, treatments like medications, physical therapy, and sometimes surgery can help manage the symptoms and improve quality of life.
Ehlers-Danlos syndrome (EDS) is a condition where the body’s connective tissues are weaker than usual. This means people with Ehlers-Danlos syndrome often have very flexible joints that can easily dislocate, and their skin can be very stretchy and fragile. The skin might bruise easily and heal slowly. There’s no cure, but treatments focus on managing symptoms and preventing injuries.
Achondroplasia is a genetic condition that causes a type of short stature known as dwarfism. People with achondroplasia have shorter arms and legs compared to their body, but their torso is usually of normal length. This condition also affects the growth of the bones and can lead to some common health issues, like problems with the spine and joints. While there is no cure, individuals with achondroplasia can lead healthy lives with proper medical care and support.
Our Reviews
What does the PrenatalSAFE Complete Plus NIPT Blood Test blood test involve?
This blood test is just like a standard blood test.
You will be asked to uncover you left or right arm and suitable vein is found. A tourniquet will be placed and tightened around your upper arm allowing the veins to swell and a needle will be placed into your vein. A small quantity of blood is then drawn into tubes. Once the procedure is complete a small plaster will be placed onto the site which can be removed after a few hours.
How do I prepare
- The blood test requires access to the area of interest, therefore, it is recommended to wear loose clothing to facilitate this process.
- First ultrasound scan report is required.
- If you are unsure about the preparation, please contact us for further information.
How to find us
We pride ourselves on providing the best quality service we can which is why we are trusted by GP's, doctors, physiotherapists, midwives and many other healthcare professionals.
Our mission of better quality healthcare for everyone is at the heart of everything we do and drives us to do the best we can for each and every patient that we see. Our team of experts have years of experience and are fully registered and regulated meaning you are in safe hands with us.
PrenatalSAFE Complete Plus NIPT Blood Test FAQ's
What happens if I do not get a result?
Most women who are over 10 weeks pregnant and opted for the prenatalSAFE complete plus NIPT blood test will get results the first time around, however around 2% will not.
If the test fails the first time you will be offered a second chance at no extra charge.
How much does the prenatalSAFE Complete NIPT Blood test cost?
The cost of the NIPT test, excluding any scans, starts from £1500.
How soon can I book the NIPT test?
Once you are past the 10-week mark in your pregnancy, you can schedule this test. We can offer prompt appointment scheduling to ensure a swift and speedy process.
How long does it take to get the results of the Prenatal safe NIPT blood test?
The results are sent in two sets. The first set of results are usually available around 12 days after your test. The second set of results are usually available 12 days thereafter.
Important Notes
- We may require details of your GP / Health Care Professional before or at the time of the test.
- Our London East clinic is located on the first floor, up one flight of stairs. Please note that we don’t have a lift available at this location.
- Blood results require interpretation. All results should be interpreted by your regular health care professional / GP.
- All of our first-line tests are optional and provided on a self-referral basis. You must be aged 16 years or over to use this service. If you have an existing medical condition, are undergoing treatment, or have any concerns about whether this test is appropriate for you, we recommend that you consult your GP or healthcare professional before booking.
- We kindly ask that you inform us of any specific requirements, reasonable adjustments, cultural considerations, or practitioner preferences before your appointment. Whilst we will make every reasonable effort to accommodate requests, this may not always be possible at short notice or subject to staff availability.