Trimester Pregnancy Care
Your Pregnancy - Our Priority
Our range of NIPT Tests
Routine NHS screening takes place between 12 and 14 weeks Many families opt for NIPT testing as it can be taken as early as 10 weeks and, is a more detailed and complementary screening tool for many genetic disorders that are not routinely analysed with current NHS technology.
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NIPT provides you with a clearer picture of the risk of your pregnancy being affected by a chromosome abnormality or single genetic disorder.
Reasons to book a NIPT test
Everyone has their own personal reason for performing NIPT. For some, it is because they do not know their biological family or there may be a history of genetic disease within the family. For other parents it may be due to a history of recurrent miscarriage or general pregnancy worries, and for many women it is done purely for reassurance purposes. You may also have been assessed as high risk due to:
Advanced Paternal age of 40+ years old
Increased risk of miscarriage
History of miscarriage
Risk of Intra-Uterine Growth Restriction
A child affected with clotting disorders
Increased Nuchal fold on an Ultrasound Scan
Follow up from a diagnostic scan where a NIPT test is recommended
Unknown family history
A previous pregnancy affected by genetic disease
Maternal age above 35 years old
High risk NHS combined test result
High risk PaPP-A
Anxiety or Reassurance purposesFamily History of genetic conditions.
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A NIPT test is performed using a simple blood test from the mother with no risk to your unborn baby in comparison to one of the 'next step' diagnostic tests such as Amniocentesis or Chorionic Villus Sampling. Each test is performed using a simple maternal blood sample at one of our recommended clinics or at home. If you are unsure which test is most suitable for you contact us today.
NIPT available from 10 weeks of pregnancy
We provide unparalleled support to our customers and offer NIPT tests that range from a basic level chromosomal screen, karyotype level screening for rare autosomal abnormalities, microdeletion syndrome, and right through to in-depth genetic screening options for both parents.
Please note; all tests screen for various chromosome disorders but only the Complete and Complete Plus screen for genetic disorders.
In-depth screening from fetal DNA can analyse multiple genes for mutations causing genetic disorders in pregnancy, giving a more complete picture of the pregnancy risk for several clinically significant and life-altering genetic disorders, that are both inherited and de novo single-gene disorders. (see below)
Results are dependant on the depth and level of screening taken but can take from between 3 to 20 working days. (after arrival at the processing laboratory)
Some test options are 'result ready' in as little as 3 Working Days *
Gender Determination is available for all NIPT Tests.
Understanding Chromosomal Screening
Chromosomes
Normally, a person has 46 chromosomes in each cell of their body, You inherit 23 pairs of chromosomes from each parent. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females.
All our NIPT test’s include varying level checks on chromosomes for autosomal aneuploidies, deletions or duplications.
Sex chromosome aneuploidies refer to conditions in which an individual’s sex chromosomes are abnormal in number. Normally, a person has two sex chromosomes, either two X chromosomes (female) or one X and one Y chromosome (male). In these instances, there is an extra or missing sex chromosome, leading to various physical and developmental abnormalities.
For example, some common sex chromosome aneuploidies include Turner syndrome (or Monosomy X), which results from a missing X chromosome in females, and Klinefelter syndrome, which results from an extra X chromosome in males. These conditions can affect physical features, such as height and fertility, as well as cognitive and behavioural development.
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Microdeletion syndromes are a group of genetic disorders that occur when a tiny piece of genetic material is missing from a person’s DNA. This type of genetic abnormality is called a microdeletion. These microdeletions can affect one or more genes and can lead to a wide range of physical and developmental abnormalities.
Some examples of microdeletion syndromes include;
DiGeorge syndrome: a condition that affects the immune system and can lead to heart defects, cleft palate, and developmental delays.
Prader-Willi syndrome: a condition that affects cognitive development, causing intellectual disability, as well as behavioural problems, feeding problems and weak muscle tone.
Cri du Chat syndrome: a condition that affects physical and cognitive development, causing distinctive facial features and intellectual disability.
Microdeletion syndromes can be diagnosed through genetic testing and are usually identified prenatally or in early childhood. Treatment options depend on the specific symptoms and can include therapies like speech and occupational therapy, as well as medications and surgeries to manage any associated medical conditions.
Understanding Aneuploidies
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Inherited and Non Inherited Disorders
Screen the mother for the five most common inherited recessive genetic disorders such as; Cystic Fibrosis, Beta Thalassemia, Sickle cell Anaemia and Deafness Autosomal recessive type 1a and 1b.
De Novo (Non – Inherited) Diseases are genetic disorders that occur as a result of a spontaneous mutation or genetic abnormality that is not inherited from either parent. This means that the genetic change is not present in either parent’s DNA, but instead occurs spontaneously during conception, either in the egg or sperm, or shortly after fertilization. De Novo disorders can affect any part of the body and can lead to a wide range of symptoms, depending on the specific genetic abnormality. Because De Novo conditions are not inherited, they can occur spontaneously in families with no history of the condition.
Prenatalsafe 3
Downs Syndrome (Trisomy 21)
Edwards Syndrome
Patau's Syndrome
Gender Determination (optional)
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Results within 3 - 5 Working Days following arrival at the testing laboratory.
Processed within the UK
This test provides analysis of chromosomes 13, 18, 21.
This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
For a deeper understanding of Down's syndrome please visit the NHS website or gain further support from The Down's Syndrome Association
Prenatalsafe 5
Downs Syndrome (Trisomy 21)
Patau’s Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
X & Y
Gender Determination (optional)
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Results from 3 - 5 Working Days
Processed within the UK
This test provides analysis of chromosomes 13, 18, 21 and includes analysis of the X and Y sex chromosomes. Find out more about sex chromosomes
This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
Prenatalsafe 5 Plus Di George
Downs Syndrome (Trisomy 21)
Patau’s Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
Sex Chromosomes - X & Y
Di – George Syndrome
Gender Determination (optional)
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Results from 10 Working Days
Processed in the EU
This test provides analysis of chromosomes 13, 18, 21, the sex chromosomes Turners Syndrome (Monosomy X), Jacobs Syndrome (Trisomy XYY), Trisomy X and Klinefelter Syndrome (Trisomy XXY) find out more about sex chromosomes.
Plus 22q 11deletion syndrome. Find out more about Di George Syndrome
This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
Prenatalsafe 5 PLUS
Downs Syndrome (Trisomy 21)
Patau’s Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
Sex Chromosomes - X & Y
Chromosome 9
Chromosome 16
Includes 6 Microdeletion Syndromes:
Di George Syndrome
Angelman Syndrome
Cri du Chat Syndrome
Wolf–Hirschhorn Syndrome
1p36 Deletion Syndrome
Prader-Willi Syndrome
Gender Determination (optional)
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Results from 10 Working Days
Processed in the EU
This test has everything included in Prenatalsafe 5 Plus Di- George and including a specific look at chromosomes 9 and 16 which are known to cause intellectual and physical abnormalities and miscarriage. Both Trisomy 9 and 16 are serious conditions that can result in health concerns for the baby, including intellectual disability and cardiac defects. Trisomy 16 is known to be the most common genetic link to autism.
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Find out more about Trisomy 9 here
Find out more about Trisomy 16 here
This test will also analyse 6 Microdeletion syndromes.
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This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
Prenatalsafe Karyo
Includes Prenatalsafe 5
Provides an overveiw of All 24 Chromosomes.
Including;
Rare Autosomal Aneuploidies
Sex Chromosomes
Trisomy 9
Trisomy 16
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Gender Determination (optional)
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Results from 10 Working Days​
Processed within the EU
Prenatalsafe Karyo includes everything in Prenatalsafe 5 but goes further to offer screening of all 24 chromosomes for Rare autosomal aneuploidies, deletions and duplications. You can have peace of mind knowing that you have valuable information about your growing baby's health
This test includes screening for Trisomy 9: which is a chromosomal condition where the vast majority result in miscarriage in the 1st trimester. Unfortunately, the majority of babys that are born alive, will not survive during early life and those that do, usually have a varying severity of health concerns, including intellectual disability and cardiac defects.
This test includes screening for Trisomy 16: which is the most commonly occurring autosomal trisomy seen in first trimester miscarriages. Sadly, of all trisomy’s, 16 seems to occurr in approximately one percent of all pregnancies. and accounting for around 16 % of miscarriages.
This test uses next-generation sequencing (NGS) to bring a Whole Genome Sequencing (WGS) approach to NIPT, expanding test options beyond chromosomes 21, 18, and 13 to include rare autosomal aneuploidies (RAAs), sex chromosome aneuploidies (SCAs). Rare autosomal aneuploidies (RAAs) involve all autosomal chromosomes other than 21, 18, or 13. The most common RAAs detected involve aneuploidies 7, 16, 15, and 22, while aneuploidies involving other chromosomes are relatively rare. Notably, the frequency of RAAs and the proportion of abnormal pregnancy outcomes in these cases largely vary .
One recent study from Gou et al (2020) states that "positive NIPT results for RAAs increase the risk of pregnancy complications, including miscarriage, intrauterine growth restriction, fetal mosaicism and confined placental mosaicism (CPM) and as invasive diagnostic procedures, such as amniocentesis and chorionic villus sampling, are associated with an additional risk of fetal loss. the balance between the risk of invasive diagnostic procedures and the potential risk of suspected RAAs on pregnancy should be fully evaluated before opting for invasive, diagnostic testing". Journal of International Medical Research 2020.
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This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
Prenatalsafe Karyo Plus
Prenatalsafe Karyo Plus includes:
Prenatalsafe Karyo
Downs Syndrome (Trisomy 21)
Patau’s Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
Sex Chromosomes - X & Y
Trisomy 9
Trisomy 16
RAA's
Deletions and Duplications in any chromosome. These are missing or gained pieces of chromosomes (>7Mb)
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9 different Microdeletion syndromes:
1p36 (1p36 deletion syndrome)
4p- (Wolf-Hirschhorn syndrome)
5p-(Cri-du-Chat syndrome)
15q11.2 (Prader-Willi / Angelman syndrome)
22q11.2 (DiGeorge syndrome)
q24 (Langer-Giedion syndrome)
1q23 (Jacobsen syndrome)
17p11.2 (Smith-Magenis syndrome)
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Gender Determination (optional)
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Results from 10 Working Days
Processed within the EU
Prenatalsafe Karyo Plus includes everything in Prenatalsafe Karyo, screening all 24 chromosomes, including chromosomes 9 and 16 and also goes one step further and detects for 9 microdeletion syndromes. With Prenatalsafe Karyo Plus, you can have peace of mind knowing that you have valuable information about your growing baby's health.
The ability to identify these important chromosomal causes of miscarriage can help with monitoring and management of this and subsequent pregnancies.
More info on: Trisomy 9: is a chromosomal condition where the vast majority result in miscarriage in the 1st trimester. Unfortunately, the majority of babys that are born alive, will not survive during early life and those that do, usually have a varying severity of health concerns, including intellectual disability and cardiac defects.
Trisomy 16: Is the most commonly occurring autosomal trisomy seen in first trimester miscarriages. Rare survivors with mosaic trisomy 16 are at increased risk for health concerns including intra-uterine growth restriction (IUGR) during pregnancy, intellectual disability, and cardiac defects. Trisomy 16 has been found to be the most common genetic link to autism. Sadly, of all trisomy’s, 16 seems to be the most common, occurring in approximately one percent of all pregnancies. and accounting for around 16 % of miscarriages.
This test is suitable for single and *twin pregnancies
*Only the presence or absence of the Y chromosome can be reported in twins.
Prenatalsafe Complete
This test includes:
Prenatalsafe Karyo and Genesafe Complete.
Includes screening for;
Inherited gene disorders;
Cystic Fibrosis
Deafness autosomal recessive type 1A
Deafness autosomal recessive type 1B
Thalassemia-Beta
Sickle cell anaemia
Non- Inherited (De Novo);
25 genes screened for 44 different genetic disorders
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Gender Determination (optional)
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Available from 10 Weeks
Results from 20 Working Days
Processed within the EU
Prenatalsafe Complete is composed of two screens: Prenatalsafe Karyo and Genesafe Complete. Please note this test does NOT include the Microdeletion Syndromes. But it is combined with the additional Genesafe Complete screen for Inherited and Non-Inherited (De Novo) features that can identify conditions which may have otherwise gone undetected until after the baby’s birth.
Many of these disorders are not typically associated with abnormal ultrasound findings (especially in the first trimester) or may not be evident until the late second or third trimester, when diagnostic invasive testing can pose a risk of preterm birth, or after delivery.
Family history is not always a good indicator of risk for these conditions, which are commonly caused by De- Novo genetic disorders. See chart below.
These 25 genes are screened for 44 different genetic disorders - Read here. The five Mutations in these 25 genes are known to cause skeletal dysplasia, congenital heart defects, multiple congenital malformation syndromes, multiple congenital anomalies, autism, epilepsy, and intellectual disability.
This test also offers a buccal (check) swab sample from the baby’s father to screen for non- inherited conditions, this is purely voluntary and does not include paternity analysis
Inherited gene disorders include;
Cystic Fibrosis
Deafness autosomal recessive type 1A
Deafness autosomal recessive type 1B
Thalassemia-Beta
Sickle cell anaemia.
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Taken from 10 weeks, it is suitable for single and *twin pregnancies. *Only the presence or absence of the Y chromosome can be reported in twins.
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*Please note; that the difference between the Complete and Complete Plus test is the inclusion of testing for 9 Microdeletion syndromes with Complete Plus *
Prenatalsafe Complete Plus
This test includes:
Prenatalsafe Karyo Plus and Genesafe Complete.
Includes screening for;
Inherited gene disorders;
Cystic Fibrosis
Deafness autosomal recessive type 1A
Deafness autosomal recessive type 1B
Thalassemia-Beta
Sickle cell anaemia
Non- Inherited (De Novo);
25 genes screened for 44 different genetic disorders
Deletions and Duplications in any chromosome. These are missing or gained pieces of chromosomes (>7Mb)
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9 different Microdeletion syndromes:
1p36 (1p36 deletion syndrome)
4p- (Wolf-Hirschhorn syndrome)
5p-(Cri-du-Chat syndrome)
15q11.2 (Prader-Willi / Angelman syndrome)
22q11.2 (DiGeorge syndrome)
q24 (Langer-Giedion syndrome)
1q23 (Jacobsen syndrome)
17p11.2 (Smith-Magenis syndrome)
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Gender Determination (optional)
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Available from 10 Weeks
Results from 20 Working Days
Processed within the EU
Prenatalsafe Complete Plus is composed of two screens: Prenatalsafe Karyo Plus and Genesafe Complete. Please note this test DOES include 9 Microdeletion Syndromes. It is combined with the additional Genesafe Complete screen for Inherited and Non-Inherited (De Novo) features that can identify conditions which may have otherwise gone undetected until after the baby’s birth. test has everything within Prenatalsafe Karyo Plus, including all 9 Microdeletion Syndromes.
This Test includes Inherited and Non-Inherited (De Novo) features that can identify conditions which may have otherwise gone undetected until after birth. Many disorders tested for are not typically associated with abnormal ultrasound findings (especially in the first trimester) or may not be evident until the late second or third trimester, when diagnostic invasive testing can pose a risk of preterm birth, or after delivery.
Inherited gene disorders include;
Cystic Fibrosis
Deafness autosomal recessive type 1A
Deafness autosomal recessive type 1B
Thalassemia-Beta
Sickle cell anaemia
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Family history may not be a good indicator of risk for these conditions, which are commonly caused by Non- Inherited (De Novo) genetic mutations in 25 genes screens for 44 different genetic disorders. These include Syndromic disorders, Noonan syndromes, Skeletal disorders and Craniosynostosis syndromes. (See Below)
The five Mutations in these 25 genes cause skeletal dysplasia, congenital heart defects, multiple congenital malformation syndromes, multiple congenital anomalies, autism, epilepsy, and intellectual disability.
This test Includes analysis of all 24 chromosomes for the most common conditions and rarer Trisomy’s 1-22 and all 9 microdeletion syndromes chromosomal deletions and duplications for clinically significant syndromes.
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Offering a genetic screen in 4 genes for 5 inherited conditions including;
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Cystic Fibrosis CFTR
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Beta Thalassemia HBB
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Sickle Cell Anaemia HBB
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Autosomnal Recessive Deafness Type 1 A
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Autosomnal Recessive Deafness Type 1 B
Taken from 10 weeks it is suitable for single and *twin pregnancies, Gender determination is available. *Only the presence or absence of the Y chromosome can be reported in twins.
*Please note; that the difference between the Complete and Complete Plus test is the inclusion of testing for 9 Microdeletion syndromes *
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Pre-Test Information and Support
Our convenient online booking system is designed to give you the most information as possible and we answer any questions you may have.
NIPT Blood Test Appointment
Find your nearest recommended clinic, or arrange a home visit and relax in the comfort and privacy of your own home* (T&C's apply).
Courier Collection
Feel reasurred - All samples are collected by courier - No postal issues or delays involved.
Results Consultation
You can choose electronic reporting of your Laboratory results or they can be personally delivered by a medical professional, allowing time to ask questions and plan next steps.
Terms and Conditions
* Please read prior to booking
There are rare occasions where circumstances outside of our control can affect waiting times for laboratory reports and where results may be delayed or even need to be repeated.
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Results are provided after laboratory analysis and wait times are given to you in 'working' days i.e. Monday to Friday. They do not include weekends or public holidays within the UK or EU.
The wait time begins after a sample has reached the processing laboratory, not from first day of transport.
Please remember, these are highly advanced medical tests, therefore the length of analysis is dependent on how your blood sample behaves under laboratory conditions.
Results cannot be accelerated or partially given in any circumstance.
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In very rare circumstances where there is not enough cfDNA (from baby) in maternal blood, the sample may need to be repeated and analysed further.
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If you are unsure which test is most suitable for you you can contact us. We offer unparalleled support to our customers. ​