Eurofins NIPT

How does it work?

During pregnancy, some fragments of the baby’s DNA circulate in the mother’s blood. Foetal DNA is detectable starting from the 5th week of gestation. Its concentration increases in the following weeks and disappears immediately after delivery.

The quantity of foetal DNA circulating from the 9th -10th week of gestation is sufficient to guarantee the high specificity and sensitivity of the test. The test is performed on a blood sample from the mother with a gestational age of at least 10 weeks.

Through a complex laboratory analysis, the cell-free circulating foetal DNA is isolated from the plasma of the maternal blood.

Subsequently, through an advanced technological process, the entire foetal genome (cfDNA) is sequenced at a high reading depth (~30 million sequences), using the innovative massive parallel sequencing (MPS)/Next Generation Sequencing (NGS) platforms from ILLUMINA and Thermofisher.

The chromosomal DNA sequences are finally quantified through a bioinformatic analysis to determine the presence of any foetal chromosomal aneuploidies.

Why is it useful?

PrenatalSAFE® is a screening test for the detection of aneuploidy and foetal chromosomal abnormalities in any pregnancy and at any age, but is particularly suitable in the following cases:

  • Pregnancies where invasive prenatal diagnosis is contraindicated (e.g. risk of spontaneous abortion)
  • Positive first-quarter screening (Bi-Test)
  • Advanced maternal age (> 35 years)
  • Advanced paternal age (> 40 years)
  • Ultrasound picture of foetal abnormalities suggestive of aneuploidy
  • Personal/family history of chromosomal abnormalities
  • Partner(s) of the couple carrying a balanced Robertsonian Translocation, on chromosomes 13 or 21.

Why prenatal?

PrenatalSAFE® is a non-invasive prenatal screening test which, by analysing the free circulating foetal DNA isolated from a sample of maternal blood, provides 6 levels of information in Pregnancy. The test allows for the screening of aneuploidies and micro-deletion syndromes, from the most common to the rarest, structural alterations in all the chromosomes of the foetus and the presence of mutations related to serious genetic diseases.

It’s simple

A simple blood sample at 10+ week of pregnancy, from which the circulating foetal DNA is analysed.

It’s reliable

99.9% sensitivity for chromosomes 21,18 13 and aneuploidy of sex chromosomes with a false positive rate lower than 0.01%. (Fiorentino et Al., 2016)

It’s safe

It is a non-invasive test, no risk to the foetus or the mother.

It’s sensitive

It allows detecting chromosomal aneuploidies even at low quantities of foetal DNA (2%), unlike other tests that require a quantity of foetal DNA> 4%.

It’s quick

Thanks to the new high-resolution FAST technology, the PrenatalSAFE test results will be available from 3 working days. (Please allow 5 working days to reach clinics)

It’s clear

PrenatalSAFE® is the non-invasive prenatal screening test that provides the clearest results: aneuploidy detected or aneuploidy not-detected, within the limits of resolution of the method

Who is it for?

The PrenatalSAFE® screening test can be performed from the 10th week of gestation (dated on the last menstrual period) and any future mother can undergo the test.

PrenatalSAFE® has proven to be particularly useful in the case of:

  • Single pregnancies obtained through natural conception or with assisted fertilization techniques, both homologous and heterologous;
  • Twin pregnancies obtained through natural conception or assisted reproduction techniques. In these pregnancies, it is not possible to perform the X and Y chromosome test.
  • Previous pregnancies resulting in miscarriage or followed by voluntary termination of pregnancy.

The PrenatalSAFE Tests

  • PrenatalSAFE® is a non-invasive prenatal screening test which analyses cell-free foetal DNA isolated from a maternal blood sample to provides 6 levels of detailed information of a pregnancy. The test allows the detection of aneuploidies and micro-deletion syndromes, from the most common to the rarest, structural alterations in all the chromosomes of the foetus and the presence of mutations related to serious genetic diseases.
  • PrenatalSAFE® is offered by the Eurofins Genoma Group laboratories with an option to choose from six levels of prenatal screening, each with a different level of detail.
  • PrenatalSAFE® Complete is the most technologically advanced non-invasive prenatal screening test currently available
  • By analysing the cell-free foetal DNA (cfDNA) circulating in the mother’s blood, this new non-invasive prenatal test is able to screen foetal karyotype and serious genetic diseases in the foetus. PrenatalSAFE® Complete in its "Plus" version also detects the 9 most common micro-deletion syndromes.
  • PrenatalSAFE® Karyo and PrenatalSAFE® Karyo Plus Detects aneuploidy and structural chromosomal alterations (segmental deletions and duplications) of each chromosome. Moreover, it allows identifying the 9 most common micro-deletion syndromes in the foetus under PrenatalSAFE® Karyo Plus screening.
Micro-deletion Chromosomal Region Prevalence
DiGeorge Synodrome Deletion 22q11.2 1/4,000
Cri du Chat Syndrome Deletion 5p15.3 1/20,000 - 1/50,000
Prader-Willi Syndrome Deletion 15q11.2 1/10,000 - 1/25,000
Angelman Syndrome Deletion 15q11.2 1/12,000
Deletion 1p36 Syndrome Deletion 1p36 1/4,000 - 1/10,000
Wolf-Hirschhorn Syndrome Deletion 4p16.3 1/50,000
Jacobsen Syndrome Deletion 11q23 1/100,000
Langer-Giedion Syndrome Deletion 8q24 1/200,000
Smith-Magenis Syndrome Deletion 17p11.2 1/15,000 - 1/25,000

Screens the aneuploidies of chromosomes 21, 18, 13, and the trisomy of chromosomes 9 and 16. The test also detects the presence of the 6 most common micro-deletion syndromes.

Micro-deletion Chromosomal Region Prevalence
DiGeorge Synodrome Deletion 22q11.2 1/4,000
Cri du Chat Syndrome Deletion 5p15.3 1/20,000 - 1/50,000
Prader-Willi Syndrome Deletion 15q11.2 1/10,000 - 1/25,000
Angelman Syndrome Deletion 15q11.2 1/12,000
Deletion 1p36 Syndrome Deletion 1p36 1/4,000 - 1/10,000
Wolf-Hirschhorn Syndrome Deletion 4p16.3 1/50,000
  • PrenatalSAFE® 5 Screens the aneuploidies of chromosomes 21, 18, 13, sex chromosomes (X and Y), and includes the determination of foetal sex (optional).
  • PrenatalSAFE® 3 Screens the aneuploidies of chromosomes 21, 18, 13, and includes the determination of foetal sex (optional).
  • PrenatalSAFE® can be combined with the RhSafe® test, a non-invasive prenatal examination that, by analysing foetal DNA isolated from a blood sample of the pregnant woman, allows to determine the Foetal Rh(D) factor. The RhSafe® test is optional and is performed on request in case of Rh(D) negative pregnant women with Rh(D) positive partner.

Differences with other non-invasive prenatal tests

Other Non-invasive screening tests have several limitations, such as:

  • Targeted analysis, limited to 5 chromosomes (21, 18, 13, X, Y)
  • Low-resolution sequencing (reading depth ~ 1-6 million sequences)
  • Algorithm that performs a risk analysis, associating the obtained data from the examination to external data (e.g. age of the pregnant woman, ultrasound findings) and producing a percentage of associated risk ("Risk score")
  • Results High / Low Risk, similar to the Bi-Test
  • Longer reporting time (~ 10-15 working days)
  • High percentage of repetition of the test (4-12%)
  • It is not always possible to perform the analysis in the case of pregnancy achieved by assisted or heterologous fertilization
  • Withdraw 20 ml of blood and use 2 tubes.

Frequently asked questions

What is the PrenatalSAFE® screening test?

PrenatalSAFE® is the first prenatal screening test able to detect from the most common foetal aneuploidies (13, 18, 21, X and Y) up to the rarest aneuploidies (all chromosomes of the foetal karyotype) reaching a level of information today only by invasive techniques. PrenatalSAFE® is also the only non-invasive prenatal screening test able to highlight sub-chomosomal structural anomalies on the whole foetal karyotype and mutations related to serious genetic diseases. The test also provides information on the sex of the foetus (optional).

What information does the PrenatalSAFE® screening test provide?

PrenatalSAFE® 3 determines the presence of the most common foetal trisomies, such as those related to chromosomes 21, 18 and 13, and includes the determination of foetal sex (optional).

PrenatalSAFE® 5 evaluates the presence of foetal aneuploidy of chromosomes 21, 18, 13 and of sex chromosomes (X and Y), and includes the determination of foetal sex (optional).

PrenatalSAFE® PLUS, in addition to the PrenatalSAFE® 5 test, identify the trisomies of chromosomes 9 and 16 and the presence of some small structural chromosomal alterations, or 6 among the most common micro-delection syndromes.

PrenatalSAFE® KARYO is the first non-invasive prenatal screening test able to detect aneuploidy and structural chromosomal alterations (segmental deletions and duplications) on each chromosome of the foetal karyotype reaching a level of information comparable to that obtained by invasive techniques.

PrenatalSAFE® KARYO PLUS includes screening of 9 most common micro-deletions in addition to findings of PrenatalSAFE® KARYO.

PrenatalSAFE® COMPLETE is the first non-invasive screening test able to detect aneuploidy of each chromosome of the foetal karyotype and mutations responsible for serious genetic diseases. The test is the result of a combination of PrenatalSAFE® KARYO and GeneSAFE™, a new screening test that allows the identification of genetic hereditary diseases with de novo onset in the foetus.

PrenatalSAFE® COMPLETE PLUS includes PrenatalSAFE® KARYO PLUS, and GeneSAFE™, a new screening test that allows to identify genetic diseases with hereditary transmission and with de novo onset in the foetus.

Who can undergo the PrenatalSAFE® non-invasive prenatal screening test?

PrenatalSAFE® can be undertaken by all pregnant women with a gestational age of at least 10 weeks. PrenatalSAFE® can be performed on single pregnancies, pregnancies achieved by in vitro fertilization (IVF, ICSI) both homologous and heterologous, twin pregnancies even if obtained with assisted, homologous and heterologous fertilization techniques.

PrenatalSAFE® COMPLETE and PrenatalSAFE® COMPLETE PLUS are particularly suitable for couples with advanced paternal age.

When can the PrenatalSAFE® screening test be performed?

PrenatalSAFE® is offered from the 10th week of gestation. There is no deadline to perform the test because the cell-free foetal DNA remains in the mother’s bloodstream throughout the duration of the pregnancy.

How is the PrenatalSAFE® screening test performed?

A simple blood sample from the future mother is needed. You do not need to be fasting to do it.

How accurate is the PrenatalSAFE® screening test?

The PrenatalSAFE® screening test has a sensitivity and specificity higher than 99% with a very low incidence of false positives, below 0.1% of cases.

PrenatalSAFE® detects abnormalities affecting the foetal genome even at low quantities of foetal DNA (FF≥ 2%).

What kind of information is reported on the PrenatalSAFE® screening test reports?

The results of the test are provided in clear and defined terms, as POSITIVE or NEGATIVE, i.e. presence / absence of the anomaly found within the limits of the method used.

Is the PrenatalSAFE® screening test similar to the other first and second quarter screening tests?

No. Screening tests are indirect statistical tests that are based on ultrasound examinations on the foetus and / or biochemical investigations on maternal blood, by which some substances are measured which can vary in quantity if there are some chromosomal pathologies. The PrenatalSAFE® test, while a screening test, is a direct analysis of cell-free foetal DNA and analyses the foetal DNA circulating in the maternal blood with great accuracy.

Is PrenatalSAFE® more reliable than non-invasive prenatal screening tests currently available?

Prenatal screening tests, such as the bi-test, may present a high risk for foetal trisomy even if it is actually a negative (false positive) result or may present a low risk for foetal trisomy, whereas in reality it is a positive pregnancy (false negative).

These non-invasive tests, such as the combination of free-b-HCG and PAPP-A proteins with nuchal translucency, have a false positive rate of up to 5% and do not detect about 10-15% of foetal trisomy 21 cases. With the PrenatalSAFE® screening test, the percentages of false positives and negatives fall to 0.1%.

Is PrenatalSAFE® a safe test or does it involve risks?

The PrenatalSAFE® screening test is completely safe for both the mother and the foetus. Diagnostic tests such as amniocentesis or villocentesis (CVS), although accurate for the diagnosis of foetal trisomies, are invasive and present a risk of non-negligible abortion and require appropriate antibiotic therapy.

Why choose PrenatalSAFE® compared to other foetal DNA analysis from maternal blood?

Each PrenatalSAFE® screening test uses NGS sequencing technology (Next Generation Sequencing) of the entire human genome, unlike other commercially available tests that instead employ a targeted screening strategy, in which the process is limited to chromosomes 21, 18, 13 , X and Y only.

The advantages produced by this technology are considerable:

  • Possibility of analysis of the entire genome for aneuploidy and structural anomalies in each chromosome.
  • Possibility of detecting mutations responsible for serious genetic diseases.
  • High sensitivity, even at a low percentage of foetal fraction, with a consequent reduction in the incidence of need for new collection (<1%).
  • Greater reliability of the results, with a consequent increase in the detection rate (> 99%) and reduction of the incidence of false positives (<0.1%),
  • Using an algorithm of bioinformatics analysis of the latest generation that evaluates the actual data (quantitative) from the analysis of sequencing, no associate of a priori risk assessments (e.g.. Age of the patient) or gestational age or weight of the patient.
  • Results of the examination provided in clear and defined terms, such as POSITIVE or NEGATIVE, i.e. presence / absence of anomaly, and no longer in terms of percentage of risk (high / low risk) as for the screening tests of the 1st and 2nd trimester.
  • Test is also suitable in pregnancies obtained with assisted fertilization techniques (homologous or heterologous).
  • Fast reporting times (from 3 working days)
  • Less blood required for the test (8-10 ml in a single tube).

What are the free services offered with PrenatalSAFE®

  • Refund of test fee in case of inconclusive result
  • Free blood sample transport : certified according to UN3373, and free shipping service of biological samples to the laboratory by express courier.
  • All inclusive customer assistance : from sample shipment to reporting.
  • Specialist and scientific support : Molecular biologists and qualified geneticists are available to discuss abnormal results.

What are foetal aneuploidies?

They are chromosomal abnormalities characterised by alterations in the number of chromosomes, i.e. by a greater or fewer number of chromosomes compared to the standard number. We speak, for example, of trisomy, when there is the presence of an extra chromosome or of monosomy, when there is an absence of a chromosome.

Trisomy 21

It is caused by the presence of an extra copy of chromosome 21 and is also known as Down Syndrome. It is the most common genetic cause of mental retardation. Trisomy 21 is estimated to affect approximately 1 infant in every 600. Children with Down syndrome have a delay in cognitive ability and physical growth and are also more likely to develop certain diseases. Down syndrome does not manifest itself in the same way in all the people affected and there is no way to establish the level of disability before birth. The probability of having a Down syndrome child increases with the age of the mother, although women of all ages can have a child with Down syndrome, regardless of their parents’ ethnic group.

Trisomy 18

It is caused by the presence of an extra copy of chromosome 18. Also known as Edwards syndrome, is associated with a high abortion. It causes serious mental retardation. Infants with trisomy 18 often have congenital heart defects as well as other pathological conditions that reduce their life expectancy. It is estimated that trisomy 18 is present in 1 / 5,000 births.

Trisomy 13

It is caused by the presence of an extra copy of chromosome 13. Also known as Patau Syndrome, it is associated with high abortion. Infants with trisomy 13 have numerous cardiac defects, manifesting severe cognitive deficits and developmental disabilities. They do not survive beyond the first months of life. It is a less common condition of Down syndrome, which occurs in about 1 in 16,000 new-borns.

Analysis of chromosomes X, Y

Sex chromosomes X and Y are associated with sex: normally, females have two X chromosomes, while males have an X chromosome and a Y chromosome. In general, abnormalities due to the number of sex chromosomes do not cause severe cognitive deficits or physical-motor development. Early detection can help these children receive the services they need to reach their full potential. Overall, about 1 new-born in 500 is born with an abnormality of sex chromosomes.

The aneuploidies of the sex chromosomes are the following:

Turner Syndrome or Monosomy X

It is the most frequent aneuploidy of sex chromosomes. Most of the girls affected by Turner’s syndrome have only one copy of the X chromosome. Many of these pregnancies go into miscarriage. Women with Turner’s syndrome are usually shorter than average. Their puberty is delayed or completely absent and can be sterile. Most demonstrate normal cognitive abilities, although some present learning difficulties. Women with Turner’s syndrome may also have heart or kidney problems.

Klinefelter syndrome (XXY)

Male children with Klinefelter syndrome have two X chromosomes and one Y chromosome. These are children with a tendency to be taller than average, whose puberty may be delayed or completely absent and which are often sterile. Most demonstrate normal cognitive abilities, although some may have psychological or learning difficulties.

Triple X Syndrome (XXX) and Jacobs Syndrome (XYY)

Subjects with these conditions may be taller than average and usually have normal cognitive abilities. In some rare cases psychological or learning problems can occur. These conditions are not associated with birth defects and may remain undiagnosed. People with these syndromes may have normal fertility.

What are Micro-delections / Micro-duplications?

Micro-duplications and micro-delections are structural chromosomal anomalies that are characterised by the loss (micro-delection) or by the duplication (micro-duplication) of a small tract of a chromosome and, consequently, of the genes located on that chromosomal fragment.

These alterations cause syndromes of clinical importance depending on the chromosome involved, the region involved and the size of the lost or duplicated region. This kind of chromosomal abnormalities cannot be identified with traditional cytogenetic techniques

Information taken from the website: prenatalsafe.co.uk.

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