What tests are there to investigate the health of my child?

At Femme Amsterdam we offer prenatal screening tests. Thanks to these tests, it can be investigated whether your child has a chromosomal, genetic and / or physical abnormality. The NIPT and the Combination Test specifically look at Down, Pateau and Edwards syndrome. With all these syndromes, three chromosomes are present instead of two chromosomes. Additional findings such as other genetic abnormalities in the child, abnormalities in the placenta or abnormalities in the mother can also be found if you wish that this is also looked at. The structural 20-week ultrasound looks at structural (physical) abnormalities of the unborn child.

Prenatal screening is not mandatory, if you want information about this, we will provide you with information during a counseling interview during your first meeting and consider the pros and cons of testing with you.

Several prenatal screening tests

There are various prenatal screening tests available at Femme-Amsterdam, such as the Trident 2 study (Dutch NIPT), the Combination test and the Structural Echoscopic Examination, also known as SEO and / or 20-week ultrasound. All these tests are non-invasive. That means that the tests do not pose a risk to your child. If the prenatal screening shows that there is an increased risk of a chromosomal, genetic or physical abnormality in your child, you are eligible for an interview at the prenatal diagnosis department in the hospital. You can then choose not to do anything or participate in the Trident 1 study or to have a CVS or amnion puncture performed.

To prepare for the first interview with your midwives, you can prepare yourself by reading more information about prenatal testing.

Trident 2 study NIPT

The Dutch NIPT test (Non-Invasive Prenatal Test) can be performed from 11 weeks of pregnancy. The blood taken is analyzed for possible chromosomal or genetic abnormalities in your unborn baby. The DNA of the placenta can also be seen in your blood. This is often the same as that of your child. As a result, for example, indications for Down, Edwards or Patau syndrome can be seen. In addition, you must choose whether or not to have any incidental findings investigated. We will call and email you the results within 2 weeks. If an increased chance of an abnormality is found, you will be forwarded to the prenatal diagnosis department in the hospital for an extensive interview, you can choose not to do anything or have further tests carried out, by means of prenatal diagnosis in which you 100% certainty. For more information, see: www.meerovernipt.nl en https://niptconsortium.nl

Structural endoscopic examination

Structural ultrasound examination (SEO) is used to look for structural (physical) abnormalities of the unborn child. The SEO can be performed between week 18+0 and week 21+0 of the pregnancy, and preferably between weeks 19+0 and 20+0 of the pregnancy. Even with an incomplete SEO due to insufficient imaging, the repetition of the SEO must be completed before 21+0. The reason for this is that follow-up investigations are often time-consuming when abnormalities are found. After the outcome of the follow-up examination, there must be sufficient time for you as a pregnant woman and your partner, if any, to consider whether or not you want to continue the pregnancy.

13 week ultrasound

The 13-week ultrasound (the official name is the First Trimester Structural Ultrasound Examination) is an ultrasound that will be offered to all pregnant women in a study context from September 1, 2021. It is performed between 12+3 and 14+3 weeks. The bigger the child, the better body structures can be assessed. The 13-week ultrasound is a medical examination for physical abnormalities in your baby. The 13 week ultrasound is very similar to the 20 week ultrasound. In both examinations, an ultrasound technician uses an ultrasound machine to check whether your child has any physical abnormalities. The sonographer will tell you the results immediately after the ultrasound. In 95 out of 100 pregnancies, the sonographer sees no indication of an abnormality. No further investigation is then necessary. The sonographer sees something that could be an abnormality in about 5 out of 100 pregnant women. It is not always immediately clear whether it is indeed an abnormality, how serious the abnormality is and what this means for your child. Did the sonographer see anything abnormal? You can then opt for further research.

This will first consist of an extensive ultrasound examination. This is called: an advanced ultrasound examination (GUO). This examination is similar to the 13-week ultrasound but often takes longer. The specialist sonographer in the hospital, the Center for Prenatal Diagnostics, can see more details of the child. Sometimes another specialist supervises the examination. The examination does not hurt and is not harmful to your child. Sometimes the doctor then suggests a blood test, chorionic villus sampling or amniotic fluid test. This depends on the abnormalities found during the ultrasound examination. The doctor will explain it all to you first. You decide if you want one of these studies.

Prenatal diagnosis

If one of the prenatal tests identifies an increased risk of a chromosomal or genetic disorder, you can conduct prenatal diagnosis. These tests provide certainty concerning whether your baby has a disorder. There are two types of prenatal diagnosis:

  • CVS – a small sample of placenta tissue is removed and analysed
  • Amniocentesis – a small sample of amniotic fluid is drawn and analysed

These tests are invasive, which means there is a small chance of miscarriage. The chance of this occurring is 1:200 for CVS and 1:300 for amniocentesis.

frequently asked questions

Veelgestelde vragen over prenatale testen

NIPT: When the results indicate an increased risk of:

  • Trisomy 21, there is a 96% chance of the baby having trisomy 21 and a 4% chance that the baby does not have trisomy 21.
  • Trisomy 18, there is a 98% chance of the baby having trisomy 21 and a 2% chance that the baby does not have trisomy 18.
  • Trisomy 13, there is a 53% chance of the baby having trisomy 21 and a 47% chance that the baby does not have trisomy 13.

13 weeks ultrasound: The sonographer sees something that could be an abnormality in about 5 out of 100 pregnant women. It is not always immediately clear whether it is indeed an abnormality, how serious the abnormality is and what this means for your child.

NIPT: When the results indicate that there is not an increased risk of:

  • Trisomy 21, 18 and 13: There is a 99 % chance that the baby does not have trisomy 21, 18 and 13 and a 1% chance of the baby having trisomy 21, 18 and 13, also known as < 1:1000

NIPT: Yes, Findings other than trisomy 21, 18, or 13 can be reported on request. These included other trisomies (0.18%, PPV 6%), many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant, structural chromosomal aberrations (0,16%, PVV 32%) and complex abnormal profiles indicative of maternal malignancies (0.02%, PPV 64%).

Structural 20 week ultrasound: This examination checks for structural (physical) abnormalities of the unborn child. It may be that a child with a chromosome abnormality looks normal on the 20-week ultrasound, so it can occur that a chromosomal abnormality is not always detected at this 20 weeks ultrasound.

13 weeks ultrasound: At 13 weeks, a screening is performed for structural (physical) abnormalities of the unborn child. It is possible that a child with a chromosome abnormality looks normal on the 13-week ultrasound, so that the chromosome abnormality is not always detected at that time.

NIPT: €175. Tests for chromosome 13, 18, 21 with an option to investigate other genetic abnormalities.

Structural 20 week ultrasound: This ultrasound is covered by your health insurance, if you are not insured the costs of this ultrasound is € 162,31

13 weeks ultrasound: Will be reimbursed by the health insurer. If you do not use healthcare in the Netherlands, you cannot participate in the IMITAS study.

NIPT: No, the test identifies:

  • 97 out of 100 children with trisomy 21
  • 90 out of 100 children with trisomy 18
  • 90 out of 100 children with trisomy 13

NIPT’s Trident-2 study is still ongoing. These results are based on 73.239 studies.

Structural 20 week ultrasound: this ultrasound is not a genetic investigation and, for example, intellectual disabilities cannot be established. Also not all physical abnormalities can be seen with an ultrasound around the 20-week pregnancy. It is important to realize these limitations of SEO.

13 weeks ultrasound: the 13-week ultrasound is not a genetic test and, for example, intellectual disabilities cannot be determined. Also not all physical abnormalities can be seen with an ultrasound around 13 weeks of pregnancy. It is important that you realize these limitations of the 13 week ultrasound.

NIPT:  Within 12 days

Structural 20 week ultrasound: The sonographer will tell you what see sees during the ultrasound, if she thinks there might be an abnormality she has to tell you immediately.

13 weeks ultrasound: The ultrasound technician will tell you what she sees during the ultrasound examination. If she has a suspicion of an abnormality or doubts about a structure she sees, she will inform you immediately.

NIPT: From 11 weeks’ gestation

Structural 20 week ultrasound: Preferably between 19+0 and 20+0 weeks. It can be done exceptionally from 18+0 weeks. Preferably not later than 20 weeks, but can be done up to 21+0 weeks. Bear in mind that if a abnormality is seen, you will then have a very short period of reflection to make any decisions about the pregnancy.

13 weeks ultrasound: The 13 week ultrasound can be done between 12+3 and 14+3 weeks. It is preferable to do the 13 week ultrasound between 13+0 and 14+3 weeks because you can assess more body structures when the baby is bigger.

NIPT: For the NIPT, the so-called counting method is used. The number of chromosomes in the DNA found within the placenta is counted. This method can now also be used for twins.

Structural 20 week ultrasound:An ultrasound technician provides an ultrasound image during the 20 weeks of ultrasound over the entire anatomy, from top of the head to the toes of your baby. The bigger the baby gets, the better body structures are visible with ultrasound.

13 weeks ultrasound: An ultrasound technician provides an image of the entire anatomy by means of an ultrasound examination, from top of the head to the toes of your child.

NIPT: Yes, this test is used in scientific research. You will provide permission for the use of your data. If you do not provide permission, you will not be able to undertake the Dutch NIPT because this test includes automatic participation in a research study. To be able to choose for the Dutch NIPT you need to have a personal security number (BSN).

13 weeks ultrasound: You can only opt for the 13-week ultrasound if you participate in the scientific IMITAS study. But why is scientific study needed on this ultrasound? And what will you notice if you participate in the scientific study?
The aim of the IMITAS study is to investigate whether the advantages of the 13-week ultrasound outweigh its disadvantages.
  • An early ultrasound seems to be to the advantage of pregnant women. You can then know early on in the pregnancy whether the child has a serious physical abnormality. This gives you more time for additional research and to decide what to do with the results.
  • On the other hand, an early ultrasound may also cause additional unrest and uncertainty.
The study examines, among other things, how many pregnant women – after the extensive interview – opt for the 13-week ultrasound. The researchers also look at the experiences of pregnant women and professionals. The study will run until 2024. After the study, the Ministry of Health, Welfare and Sport (VWS Ministry of Health, Welfare and Sport) will decide whether the 13-week ultrasound will be definitively introduced in the Netherlands.

In the NIPT test, blood is taken from the mother and examined. The 13 and 20 week ultrasound is done by a sonographer with an ultrasound machine that emits harmless sound waves that are then converted into images showing the baby’s anatomy on a screen

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