book an appointment

DNA tests 
from maternal blood

The new free fetal DNA test is the chromosome 
non-invasive prenatal DNA (NIPT) test to screen for abnormalities

A new era has opened in fetal diagnostics

Today, we can examine the genetic material of the fetus in the blood of the pregnant mother. This opens up invaluable perspectives in fetal diagnostics. The method fulfills the need to detect possible genetic abnormalities of the fetus in the early stages of pregnancy without endangering the fetus and the mother.

DNA tests without the risk of miscarriage - from maternal blood

Until now, examining fetal chromosomes required fetal cells. The collection of fetal cells is currently only possible with amniocentesis, which involves piercing the amniotic membrane, or with placenta sampling (chorionic biopsy - CVS), however, these invasive interventions carry a risk of miscarriage.

The free fetal DNA test can detect Down's disease and other numerical chromosomal abnormalities risk-free, without endangering the fetus, with a maternal blood sample, with an efficiency almost approaching that of the invasive method.

Fetal DNA in maternal blood

From the placenta, which matches the genetic characteristics of the fetus, excellent free fetal DNA from worn-out cells enters the mother's blood. By examining the structure of these freely circulating DNA pieces, it is possible to identify which chromosome they come from and whether they are present in sufficient quantities. This test is an effective way to detect numerical chromosomal abnormalities.

Free fetal DNA tests 
– the reliable and safe choice

The effectiveness of the risk-free test, which can be performed with maternal blood sampling, was determined in international clinical trials on a large patient population. According to clinical studies, the 99% of Down's syndrome fetuses can be detected with the free fetal DNA test. The "false positive" rate is at most 0.2% and the test fails in less than 1% of cases. If the test gives a positive result (in other words, it indicates Down's disease), then genetic counseling is recommended and sampling of the amniotic fluid or amniotic fluid must be performed.

To whom is the free fetal DNA test recommended and when can it be performed?
The new method is recommended for all pregnant women, as it is the only test that screens for Down's disease with the highest possible success rate without endangering the fetus.

The test is also recommended in the following cases:
  • age of the expectant mother (≥35 years)
  • invasive prenatal tests are contraindicated (e.g. increased risk of miscarriage)
  • chromosomal abnormality in a previous pregnancy
  • high risk indicated by traditional screening methods (occiput, combined test, biochemical tests performed in the second trimester)
  • Abnormality found at 18-week fetal ultrasound screening (a sign of a chromosomal defect)
Free fetal DNA tests can be performed between the 10th and 20th week of pregnancy.

What chromosomal abnormalities does the free fetal DNA test screen for and with what efficiency?

The free fetal DNA test measures with more than 99% sensitivity:

  • the risk of Down's, Edwards' and Patau's syndromes

It also offers additional testing options for other trisomies and certain sex chromosome abnormalities, e.g.:

  • Klinefelter syndrome (XXY)
  • Triple X syndrome (XXX)
  • Turner syndrome (X-monosomy)
  • Jacob syndrome (XYY)

In addition to these, it is also possible to test for several microdeletion syndromes, e.g.:

  • 22q11.2 deletion / DiGeorge syndrome
  • 1p36 deletion syndrome
  • Angelman syndrome
  • Chri-du-chat syndrome
  • Prader-Willi syndrome
  • and many others

If the expectant mother requests it, the gender of the child can also be determined with the test.

It follows from the above that the free fetal DNA test is recommended for pregnant women of any age who want to know more about the health of their fetus!

Can a free fetal DNA test be performed in a twin pregnancy?

The test is suitable for detecting chromosomal abnormalities in monochorionic and dichorionic twin pregnancies.

Is my baby healthy if the result of the free fetal DNA test is negative for the chromosomal defects tested?
Are other tests necessary?

Our center can provide pregnant women with all available free fetal DNA tests (Panorama test, Prenate test, Tranquility test, Nifty test, etc.). After a preliminary ultrasound examination, the expectant mother has the opportunity to consult with us about the optimal choice.

Screening of monogenic fetal abnormalities from maternal blood

Vistara Fetal Screening Test

The Vistara fetal screening test is a world first in prenatal testing. The Vistara test examines 30 genes that cause abnormalities in the unborn child. These abnormalities can typically only be detected after birth or in the late stages of pregnancy without Vistara, and other fetal screening tests are not suitable for their examination.

The effectiveness of the risk-free test, which can be performed with maternal blood sampling, was determined in international clinical trials on a large patient population. According to clinical studies, a The 99% of Down syndrome fetuses can be detected with the free DNA test. The "false positive" rate is at most 0.2%. If the test gives a positive result (in other words, it indicates Down's disease), then genetic counseling is recommended and sampling of the amniotic fluid or amniotic fluid must be performed.

THE Vistara fetal cfDNA-based screening test for monogenic disorders affecting the skeletal, cardiovascular and nervous systems.

  • Noonan syndrome
  • Rett syndrome
  • Achondroplasia
  • Osteogenesis imperfecta
  • Alagille syndrome
  • Antley Bixler syndrome
  • Apert syndrome
  • Cardiofaciocutaneous syndrome
  • CATSHL syndrome
  • CHARGE syndrome
  • Cornelia De Lange syndrome
  • Costello syndrome
  • Crouzon syndrome
  • Ehlers-Danlos syndrome
  • Epileptic encephalopathy
  • Hypochondroplasia
  • Intellectual disability
  • Jackson Weiss syndrome
  • Juvenile myelomonocytic leukemia
  • Leopard syndrome
  • Muenke's syndrome
  • Sotos syndrome
  • Thanatophoric dysplasia
  • Tuberous sclerosis
  • Pfeiffer syndrome

The combined incidence of disorders screened by the Vistara test is 1:600, overall higher than the incidence of Down syndrome.

THE Vistara examines monogenic disorders that would most likely not be detected during pregnancy:

  • Ultrasound signs do not clearly indicate the disease
  • They cannot be detected by microarray
  • Family medical history is not relevant in most cases
  • Early recognition of the disorder is key to rapid and effective medical interventions

Monogenic diseases screened by Vistara:

  • As a rule, they are not inherited and do not depend on family medical history
  • It is mostly caused by newly created, de novo mutations
  • As the father's age advances, their frequency of occurrence may increase
  • It does not depend on the age of the mother
  • Autosomal or X-linked dominant disorders, so if the pathological variant is present, the child will definitely be affected and show the symptoms

Vistara helps patients make informed decisions about their families. They can also prepare for the arrival of a child with special needs, as the child may need medical care immediately after birth.

The Vistara fetal screening test can be performed as early as the 9th week of pregnancy and can be used to find out whether your unborn child carries a gene variation that causes an abnormality. The interpretation of the result is assisted by a clinical geneticist.

Sensitivity and specificity of the Vistara screening test 99% above.

When is a Vistara test recommended?

  • in case of advanced paternal age
  • ultrasound for abnormalities such as short tubular bones, thick occiput
  • for parents who want to know as much information as possible about their unborn child, but do not want invasive intervention

GeneSafe - a non-invasive prenatal test for monogenic disease screening

GeneSafe is the first non-invasive fetal test to screen for serious genetic disorders of monogenic origin. Current (chromosomal) non-invasive fetal tests screen for aneuploidies and microdeletions. GeneSafe goes further than this and examines pathogenic or likely pathogenic mutations in monogenic diseases. GeneSafe's perfect complementary test to traditional chromosomal fetal abnormality screening provides the most comprehensive picture of the fetus.

Analysis of free DNA circulating in maternal blood using next-generation sequencing technology from the 10th week of pregnancy. Complementary test to the NIFTY test developed for the investigation of traditional chromosomal abnormalities. It screens for many additional serious genetic disorders that current non-invasive fetal testing cannot. In this way, we can get a much more comprehensive picture of the risk of developing a genetic disorder during pregnancy.

Although the occurrence of individual disorders is relatively rare, their cumulative frequency is similar to that of Down syndrome (~1/300 to ~1/600). While traditional NIPT tests screen for conditions whose risk increases with maternal age, GeneSafe screens for disorders associated with advanced paternal age (> 40 years).

The test is recommended if:

  • the father's age has increased (> 40 years)
  • ultrasound abnormalities suggestive of monogenic disorders are visible, I would like to avoid an invasive diagnostic procedure
  • the parents have already been screened for some disorder

The test is also available in twin pregnancies, and in the case of fetuses conceived with the IVF program (even with egg donation).

Abnormalities screened by GeneSafe de novo are usually not associated with an ultrasound abnormality - especially in the first trimester - or it is not palpable until the second/third trimester, when invasive intervention would increase the risk of preterm birth, but it is possible that the abnormality will only be discovered after birth .

GeneSafe investigates pathogenic and likely pathogenic mutations during the analysis of circulating cell-free fetal DNA in maternal blood samples by next-generation sequencing. Both the sensitivity and specificity of the test are higher than 99% based on the validation.

GeneSafe de novo – screens for 44 serious genetic disorders, which are caused by de novo mutations (non-inherited gene mutations) of 25 genes. These include skeletal dysplasia, congenital heart failure, several congenital disorders, nervous system disorders - which cause, for example, autism, epilepsy, intellectual disability - and various rare dominantly inherited Mendelian disorders (e.g. Schinzel-Giedion sy. and Bohring-Opitz sy.). The rate of de novo disorders increases with increasing paternal age. These 44 disorders often occur in the absence of a family history.

These diseases meet at least one of the following criteria:

  • causes cognitive impairment
  • surgical or medical intervention is required
  • affects the quality of life.
  • Alagille syndrome
  • CHARGE syndrome
  • Cornelia de Lange syndrome 5
  • Cornelia de Lange syndrome 1
  • Rett syndrome
  • Sotos syndrome 1
  • Bohring-Opitz syndrome
  • Schinzel-Giedion syndrome
  • Holoprosencephaly
  • Craniosynostosis syndromes
  • Antley-Bixler syndrome without gender abnormalities or disordered steroidogenesis
  • Apert syndrome
  • Crouzon syndrome
  • Jackson-Weiss syndrome
  • Pfeiffer syndrome type 1
  • Pfeiffer syndrome type 2
  • Pfeiffer syndrome type 3
  • Noonan spectrum disorders
  • Cardio-facio-cutaneous syndrome 1
  • Noonan syndrome-like syndrome without juvenile myelomonocystic leukemia (NSLL)
  • Noonan syndrome
  • Cardio-facio-cutaneous syndrome 3
  • Cardio-facio-cutaneous syndrome 4
  • Noonan syndrome 6
  • Noonan syndrome 1 / LEOPARD syndrome
  • Juvenile myelomonocystic leukemia (JMML)
  • Noonan syndrome 5 / LEOPARD syndrome 2
  • Noonan syndrome 8
  • Noonan syndrome-like pathology with loose anagen hair
  • Noonan syndrome 4
  • Skeletal disorders
  • Achondrogenesis type 2 or hypochondrogenesis
  • Achondroplasia
  • CATSHL syndrome
  • Crouzon syndrome with acanthosis nigricans
  • Hypochondroplasia
  • Muenke's syndrome
  • Thanatophoric dwarfism type 1
  • Thanatophoric dwarfism type 2
  • Ehlers-Danlos syndrome, classic
  • Ehlers-Danlos syndrome, type VIIA
  • Osteogenesis imperfecta, type 1
  • Osteogenesis imperfecta, type 2
  • Osteogenesis imperfecta, type 3
  • Osteogenesis imperfecta, type 4
  • Ehlers-Danlos syndrome, valvular form
  • Ehlers-Danlos syndrome, type VIIB
  • Osteogenesis imperfecta, type 2
  • Osteogenesis imperfecta, type 3
  • Osteogenesis imperfecta, type 4

Features of the GeneSafe test

  • SIMPLE: the test sample is a simple maternal blood sample from the 10th week of pregnancy.
  • SAFE: a non-invasive test that poses no risk to the fetus or the mother
  • RELIABLE: sensitivity and specificity >99%
  • FAST: test results within 10 days

Free follow-up in case of a positive result. Therefore, confirmatory placental or amniotic fluid sampling and further sequencing are available free of charge at our Institute. In the event of an unsuccessful (2x) examination, the price of the examination will be refunded.

Comparison of the free fetal DNA test and other traditional screening tests during pregnancy!

Method
Invasive/non-invasive
It can be done 
gestational age
Recognition rate 
Down syndrome
Fetal occiput measurement / US alone
It is not invasive
11-13+6 weeks

False positive rate: 3%
Recognition rate: 70%

Combined test
It is not invasive
11-13+6 weeks

False positive rate: 3-5%
Recognition rate: 90%

Chorionic villus biopsy / amniocentesis
Invasive
10-20 weeks

Miscarriage rate: 0.5-1%
Recognition rate: >99%

Free fetal DNA test
It is not invasive
10-20 weeks

There is no risk of miscarriage
False positive rate: <0.2%
Recognition rate: >99%

Do you need a gynecological or obstetrical examination? Make an appointment today Debrecen obsession from Nyíregyháza to our diagnostic center!

Care
and expertise at a higher level
Book an appointment
Monday: 8:00 - 16:00
Tuesday: 8:00 - 16:00
Wednesday: 8:00 - 16:00
Thursday: 8:00 - 16:00
Friday: 8:00 - 16:00
Copyright © 2023-2024 OMED
Made by:
cross