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NON INVASIVE PRENATAL TESTING

NIPT is regarded as gold standard testing and used to identify the risk of genetic conditions during pregnancy.

From choosing a blood rest to receiving your results, we are here every step of the way, it really is that simple.

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Reduce the wait time for NHS appointments and turn your anxieties into reliable information to help you make informed choices. If you are unsure which is the best method of antenatal screening for you discuss it with your midwife or obstetrician or simply get in touch with us.

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Why take a NIPT test?

This safe method of screening is used to enhance the depth of testing without adding any risk to your baby and does not replace your routine NHS antenatal care. The NHS combined screening has a high false positive rate compared to NIPT testing, and if given a 'higher chance' result, you will be asked to undergo further 'invasive' testing, which is often worrying for parents.

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According to NICE guidance, a NIPT test is the next recommened step before moving to diagnostic testing by Chorionic Villus Sampling (CVS) or Amniocentesis. As both of these are'invasive' methods they come with increased risk of miscarriage. Therefore, many parents opt straight for NIPT as the reliability and accuracy of this screening method if recognised as being superior to NHS combined screening.

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However, NIPT tests are NOT diagnostic tests and the results alone must never be used to make critical decisions; you should always consult your care provider to discuss your results and plan further care.

Prenatalsafe 3

This test provides analysis of chromosomes 13, 18, 21. 

This test is suitable for single and *twin pregnancies

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  • Downs Syndrome (Trisomy 21)

  • Patau’s Syndrome

  • Edwards Syndrome

  • Gender Determination (optional)

  • Results within 3 Working Days following arrival at the testing laboratory. Processed in the UK.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe 5

This test provides analysis of chromosomes 13, 18, 21 and includes analysis of the X and Y sex chromosomes. This test is suitable for single and *twin pregnancies

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  • Downs Syndrome (Trisomy 21)

  • Patau’s Syndrome (Trisomy 13) 

  • Edwards Syndrome (Trisomy 18)

  • X & Y

  • Gender Determination (optional)

  • Results within 3 Working Days following arrival at the testing laboratory. Processed in the UK.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe 5 Plus DiGeorge

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) Plus 22q 11deletion syndrome

This test is suitable for single and *twin pregnancies

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  • Downs Syndrome (Trisomy 21)

  • Patau’s Syndrome (Trisomy 13) 

  • Edwards Syndrome (Trisomy 18)

  • Sex Chromosomes - X & Y

  • Di – George Syndrome

  • Gender Determination (optional)  

  • Results from 10 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe 5 Plus

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. This test will also analyse 6 Microdeletion syndromes. This test is suitable for single and *twin pregnancies

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  • 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) 

  • Results from 10 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe Karyo

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.

This test is suitable for single and *twin pregnancies

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  • Includes Prenatalsafe 5

  • Provides an overveiw of All 24 Chromosomes. 

  • Including; 

  • Rare Autosomal Aneuploidies

  • Sex Chromosomes

  • Trisomy 9

  • Trisomy 16

  • Gender Determination (optional)  

  • Results from 10 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe Karyo Plus

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. This test is suitable for single and *twin pregnancies

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  • 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)

  • Gender Determination (optional) 

  • Results from 10 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe Complete

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.These 25 genes are screened for 44 different genetic disorders. 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.

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Inherited gene disorders include;

  • Cystic Fibrosis

  • Deafness autosomal recessive type 1A

  • Deafness autosomal recessive type 1B

  • Thalassemia-Beta

  • Sickle cell anaemia.

 

This test is suitable for single and *twin pregnancies

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  • 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

  • Gender Determination (optional)  

  • Results from 10 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

Prenatalsafe Complete Plus

Prenatalsafe Complete Plus is composed of two screens: Prenatalsafe Karyo Plus and Genesafe Complete. Please note this test DOES include 9 Microdeletion Syndromes.​

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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 *

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  • Prenatalsafe Complete

  • 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)​
     

  • Available from 10 weeks

  • Gender Determination (optional) 

  • Results from 15 Working Days following arrival at the testing laboratory. Processed in the EU.

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*Only the presence or absence of the Y chromosome can be reported in twins.

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