Non-invasive prenatal test

A non-invasive prenatal test allows early detection of trisomies of chromosomes 21, 18, 13, X and Y in the foetus. It is performed on a sample of maternal blood from 10 weeks of gestation.

Price

From 495€ (includes genetic counselling)

Time to result

7 days

What is a non-invasive prenatal test?

Non-invasive prenatal testing (NIPT), sometimes called non-invasive prenatal screening, is a set of tests that use a blood sample from the mother-to-be to determine if the fetus is at high risk for a chromosomal disorder. In other words, they are completely safe for you and your baby.

From the 10th week of gestation, using modern, highly sensitive methods, small amounts of fragments of the child’s genetic material can be detected in the pregnant woman’s blood (cell-free DNA). These small DNA fragments come from the placenta, from which they are constantly released into the mother’s bloodstream. Comparison of maternal and foetal DNA can indicate chromosomal abnormalities that can lead to late miscarriage or serious congenital problems.

Non-invasive prenatal tests by Genosalut

At Genosalut we have more than ten years of experience in performing non-invasive prenatal tests. We attend patients who come directly to our clinic and we also work with a network of gynaecologists who trust us to carry out these tests on their patients.

Below, you will find information about our three products as well as a table in which you can consult which type of non-invasive prenatal test is indicated in your case.

  • What it detects: Trisomy 21 (Down’s syndrome), trisomy 13 (Patau’s syndrome), trisomy 18 (Edwards’ syndrome) and foetal sex.
  • Type of pregnancy:
    • Singleton pregnancy
    • Singleton pregnancy by ovodonation
    • Twin pregnancy: the sex of each of the foetuses is not reported.
  • Technique: Massive sequencing
  • Efficiency for aneuploidies: sensitivity and specificity greater than 99.9%, except for X chromosome monosomy which has a sensitivity of 95%.
  • What it detects: Trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), foetal sex and sex chromosome aneuploidies: Turner syndrome (monosomy X), Klinefelter syndrome (XXY), triple X syndrome (XXX) and XYY syndrome.
  • Type of pregnancy:
    • Singleton pregnancy
    • Singleton pregnancy by ovodonation
  • Technique: Massive sequencing
  • Efficiency for aneuploidies: sensitivity and specificity greater than 99.9%, except for X chromosome monosomy which has a sensitivity of 95%.
  • What it detects: Trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), foetal sex, sex chromosome aneuploidies – Turner syndrome (monosomy X), Klinefelter syndrome (XXY), triple X syndrome (XXX) and XYY syndrome – and deletional syndromes.
  • Type of pregnancy:
    • Singleton pregnancy
    • Single pregnancy by ovodonation
  • Technique: Massive sequencing
  • Efficiency:
    • For aneuploidies: sensitivity and specificity greater than 99.9%, except X chromosome monosomy which has a sensitivity of 95%.
    • For microdeletional syndromes: sensitivity of 74%. It does not detect deletions of less than 7 Mb in size.
Our value proposal

Experience

At Genosalut, we have more than 10 years of experience in counselling people with conditions where a genetic cause has been identified or is thought to be possible.

Proximity

We are a close laboratory, we respond personally and we take the time to explain the report in detail to doctors and patients.

Professional interpretation of results

Because of our knowledge and experience, we are able to accurately interpret genetic results and offer professional advice.

Reference in the field

We are the point of contact for patients, doctors and clinics in all areas of human genetic diagnostics and prevention.

What are the advantages of non-invasive prenatal testing?

  • As it is non-invasive, there are no risks for the mother or the baby.
  • It can be performed from 10 weeks of pregnancy.
  • Much more reliable than routine first trimester combined screening tests. Offers a high detection rate of the specific chromosomal abnormalities tested and a low false positive rate.
  • Reduces unnecessary amniocentesis by approximately 90%.
Prevention and peace of mind with the genetic tests of Genosalut

You can know the risk of having affected offspring

A non-invasive prenatal test can confirm or rule out with high reliability the presence of the most common large chromosomal abnormalities and certain deletional syndromes associated with intellectual disability and congenital disorders. On those occasions when the results are not entirely clear, there is the possibility of performing complementary tests.

You can make decisions based on the results obtained

The results obtained will allow you, together with your family, your specialist and/or your genetic counsellor, to determine the possibilities and make a decision based on multiple factors.

How can I request a non-invasive prenatal test?
Request an appointment

Contact us through the form, by e-mail or by telephone to make an appointment with us.

Ask your physician

You can also consult your doctor for information on the possibilities of genetic testing.

We analyse the probe

In our genetic diagnostics laboratory we analyse the sample with the latest technology.

We write a report

We provide a detailed description of the results and, if necessary, genetic counselling.

FAQs

When talking about non-invasive prenatal testing, it should be noted that the concept of fetal DNA is erroneous, as the material being analysed is placental DNA. However, it is accepted to use the terms placental DNA, fetal DNA and fetal fraction as synonyms.

During pregnancy, the mother’s bloodstream contains a mixture of cell-free DNA from her cells and placental cells.

The placenta is the tissue in the uterus that links the foetus to the mother’s blood supply. These cells are shed into the mother’s bloodstream throughout pregnancy. The DNA of placental cells is usually identical to that of the foetus. Analysis of cell-free DNA from the placenta offers the opportunity for early detection of certain genetic abnormalities without harming the foetus.

Unlike most DNA, which is found within the nucleus of a cell, cell-free DNA are fragments floating freely in the bloodstream. These small fragments usually contain less than 200 base pairs and originate when cells die and break down and their contents, including DNA, are released into the blood.

As a general rule, from the 10th week of gestation. This is because there must be sufficient placental DNA in the mother’s bloodstream to be able to identify foetal chromosomal abnormalities.

To perform the test, the proportion of cell-free DNA from the placenta (placental DNA or fetal fraction) in the maternal blood must be greater than 4 percent, which is usually around the 10th week of pregnancy.

Low fetal fractions may lead to failure of the test or a false negative result. Reasons for low fetal fractions include testing too early in pregnancy, sampling errors, maternal obesity and fetal abnormalities.

Pregnant women of any age from the 10th week of pregnancy. Whether it is a single or twin pregnancy (2 foetuses), a pregnancy resulting from natural conception or in vitro fertilisation (IVF), including pregnancies through gamete donation.

  • In women of advanced age.
  • In women who are found to be at high risk of chromosomal abnormalities after first trimester screening (hormone analysis and ultrasound).
  • In women who have had previous pregnancies with a genetic problem in the baby.

The non-invasive prenatal tests currently available on the market detect various types of aneuploidies:

  • Trisomies 21, 18 and 13 (Down syndrome, Edwards’ syndrome, Patau’s syndrome).
  • Monosomy X (Turner syndrome).
  • Other sexual aneuploidies (Klinefelter syndrome, XYY syndrome and trisomy X syndrome).

In addition:

  • They are able to determine the sex of the baby.
  • In some cases they detect microdeletions such as: DiGeorge syndrome, 1p36 deletion syndrome, Cri-du-chat syndrome, Angelman syndrome and Prader-Willi syndrome.

The accuracy of the different tests available varies according to the disorder.

  • Low risk: Confirms a 99% probability that the baby does not have any of the chromosomal abnormalities analysed. However, it does not rule out the possibility of foetal chromosomal involvement.

  • High risk: To confirm this result, a definitive diagnostic test on the amniotic fluid is required. It is important to consult a gynaecologist or genetic counsellor.

It should be remembered that any NIPT is a screening test, which means that it will not give a definitive answer as to whether or not a foetus has a genetic condition. The test can only estimate whether the risk of certain conditions is increased or decreased. In some cases, the results of. NIPT may indicate an increased risk of a genetic abnormality when the fetus is not actually affected (false positive), or the results may indicate a decreased risk of a genetic abnormality when the fetus is actually affected (false negative). Because NIPT tests both fetal and maternal cell-free DNA, the test can also detect a genetic condition in the mother.

Non-invasive prenatal testing is covered by some private insurance companies, especially in cases of first trimester screening abnormalities. You can come to us with a certificate from your gynaecologist or with your insurance card.

Request an appointment with us

Opening hours

Monday to Friday from 9.00 am to 1.00 pm

Phone number

+34 616 59 01 65

E-mail

info@genosalut.com

Address

Camí dels Reis, 308 (Clínica Palma Planas)

Contact form

Reasons for trusting Genosalut

First genetic diagnosis laboratory in the Balearic Islands

Professionals with experience in medical genetics

Detailed report of the results

Personalised attention for each patient

Wide range of genetic tests

Cutting-edge technology