CONGRATULATIONS ON YOUR PREGNANCY!

In cooperation with BillionToOne, Inc. we are pleased to offer you the world’s first prenatal screening test for cystic fibrosis, spinal muscular atrophy, sickle cell disease, and the α- and β-thalassemias. UNITY™ test is currently the only non-invasive prenatal test (NIPT) for these single-gene disorders and offers you a greater degree of security in your pregnancy.

THE NON-INVASIVE UNITY™ TEST

With the non-invasive UNITY™ test, you can get information about your baby’s health as early as the 11th week of pregnancy (10 + 0) and find out if you are a carrier of one of these single gene disorders yourself. The UNITY™ test is used to screen for the most prevalent single-gene diseases: cystic fibrosis, spinal muscular atrophy, sickle cell disease, and thalassemias (α- and β-thalassemias) with a sensitivity of over 98.5% and a specificity of over 99%. This means that fewer women need to undergo invasive prenatal diagnosis (amniocentesis or chorionic biopsy) with a miscarriage risk of approximately 0.5 %. The UNITY™ test is non-invasive and therefore free of risk for both mother and baby.

THE SYNDROMES TESTED

Cystic fibrosis is one of the most common life-shortening diseases. It is based on a genetic modification of the CFTR gene. In Germany, up to one in 3,300 newborns is affected by it. Patients are increasingly experiencing respiratory problems throughout their lives. Apart from the lungs, other organs are usually also affected. There is still no therapy that fights the cause of the disease, however, medical progress in recent years has led to a significant improvement in quality of life and life expectancy. Patients today reach the age of 40 years on average (median).

Spinal muscular atrophy (SMA) occurs in approximately one in 6,000 newborns and is most often caused by a missing or altered SMA1 gene. The disease is caused by the fact that nerve cells which regulate muscle activity are not formed correctly. As a result, the children affected with SMA experience progressive muscle deterioration and are increasingly restricted in their ability to move. Particularly serious are the limitations in the muscles that are needed for breathing and swallowing. Depending on the type, the disease can be found in infants (type 1 and type 2) or adults (type 3). Life expectancy for children with type 1 and 2 is only a few years, for patients with type 3 it is only slightly reduced. New medications are becoming available, which promise a causal therapy if the disease is diagnosed already early on.

Hemoglobinopathies are diseases that affect the formation of the red blood pigment hemoglobin. The diseases are more common in the Mediterranean, the Middle East and Africa, but their number is steadily increasing in Europe. In Berlin and Hamburg, for example, one of 2,400 newborns has been affected in recent years. The most common hemoglobinopathies, sickle cell disease, and α- and β-thalassemias are caused by altered hemoglobin molecules, which can lead to multiple organic lesions. Depending on the severity of the condition, the quality of life of the patients may be severely limited and their life expectancy significantly reduced.

THE PROCEDURE OF THE NON-INVASIVE UNITY™ TEST

The UNITY™ test enables non-invasive prenatal screening (NIPT) for these single-gene disorders if a carrier has been identified from the pregnant women’s blood. To determine whether a fetus is affected by any of the genetic anomalies examined, it is first examined whether the mother is a carrier of one of the diseases. Only in this case can the child be affected. In this case, an NIPT will be subsequently performed to analyze the child’s cell-free DNA (cfDNA) drom the same blood sample.

HIGH ACCURACY OF THE UNITY™ TEST

98,5+% Sensitivity                99+% Specificity
100% Accuracy*

The first part of the UNITY™ screening, the Carrier Screening, is largely NGS-based and meets the highest industry standards. Complete gene sequencing is performed on CFTR. Even the “silent carriers” of SMN1 are recognized.

The carrier screening has a sensitivity of > 99% for cystic fibrosis, > 90% for spinal muscular atrophy, > 99% for β-thalassemia and sickle cell disease and > 95% for α-thalassemia.

The second part of the UNITY™ test, the NIPT, has an analytical sensitivity of > 98.5% and a specificity of > 99%.

AN IMPORTANT NOTE CONCERNING THE UNITY™ TEST

The NIPT can only be performed on singleton pregnancies from the 11th week of gestation (weeks 10 + 0). If the fetal fraction is < 5% or if the amount of cfDNA in the blood sample is too low, a new blood sample may be required.
The test cannot be carried out for:

  • Multiple pregnancies
  • Pregnancy with egg donation and / or surrogate mother
  • Carriers of the SMN1 SNP rs143838139 or carriers of a silent α-thalassemia

RESULTS OF THE UNITY™ TEST

The results are available within 14 days. The results will show if you are a carrier of one of the screened single gene disorders and if your baby has a low or high risk of having one of these single gene disorders.

TEST LIMITATIONS

No test is perfect. While the results of the BillionToOne five-gene carrier screening test are very accurate, a negative result significantly reduces the likelihood of being a carrier, but does not exclude it in its entirety.

These test results assume that the patient is not Ashkenazi, French Canadian or Cajun, as these patients are at greater risk for diseases that are not tested in this panel.

We strongly recommend ultrasound as part of prenatal care.

Bear in mind that it is always important to consult a physician to be fully aware of opportunities and risks before using genetic tests. The UNITY™ test is a screening test. If the test determines a high risk, confirmation by an invasive diagnostic test is strongly recommended.

Please verify with your health care provider that non-invasive prenatal testing is suitable for you. Before having non-invasive prenatal testing, you should consult a qualified healthcare professional to make sure you fully understand all the relevant risks, diagnoses, therapy options and possible consequences and medical concerns.

WHO CAN PERFORM THE UNITY™ TEST FOR ME?

Ask your gynecologist about UNITY™ Test.

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Unity Test Titelbild NIPT mukoviszidose Pränataltest

[*] Tsao et al., 2019 “A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT”; NIH financed study at Baylor College of Medicine (award number R43HL144322)

UNITY™ is powered by BillionToOne, Inc., the only provider of carrier screening and single-gene NIPT that can detect autosomal recessive diseases. BillionToOne, Inc. is a precision diagnostics company based in Menlo Park, California.
The patent-pending molecule-counter platform of BillionToOne, Inc. increases the resolution of cell-free DNA recognition by a factor of 1000.

Eluthia GmbH: In Bosseldorn 30, 69126 Heidelberg, Germany.

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