Prenatal screening and NIPT with Femme Amsterdam

Prenatal screening and NIPT with Femme Amsterdam

Prenatal screening tests at Femme Amsterdam

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.

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:

  1. CVS – a small sample of placenta tissue is removed and analysed
  2. 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.

Prenatale diagnostiek

FREQUENTLY ASKED QUESTIONS

A blood sample is taken for each of the tests. At the combined test we also make an ultrasound between week 11,5 and 13,5. This is for measuring the fold of the neck.

The structural 20 week ultrasound is done by an ultrasound technician / monographer with an ultrasounds which uses harmless sound waves which shows the babies anatomy on a screen.

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).

Combination test: No, your data is not used for scientific research for this test. It has been available in the Netherlands for many years.

Structural 20 week ultrasound: 

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 cannot be used for twins or multiples.

Combination test: The Combination test determines the level of PAP-A and βHcG hormones via a blood sample. Coupled with the thickness of the fluid at the back of your baby’s neck, the period of pregnancy and the age of the mother during this test, this test predict the risk of having a baby with a chromosomal disorder.

Structural 20 week ultrasound: an sonographer uses the sound waves of the machine to create a visible pictures / video that represent the entire anatomy, from the top of the head to the toes of the baby during this examination.

NIPT: From 11 weeks’ gestation

Combination test: Blood sample can be taken between 9 and 14 weeks’ gestation and the ultrasound between 11 and 14 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.

NIPT:  Within 12 days

Combination test: 2 days after the ultrasound if the blood sample was taken one week in advance.

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.

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.
Combination test: No, the test identifies:

  • 85 out of 100 children with trisomy 21
  • 77 out of 100 children with trisomy 18
  • 65 out of 100 children with trisomy 13

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.

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

Combination test: €176,96

Structural 20 week ultrasound: This ultrasound is covered by your health insurance, if you are not insured the costs of this ultrasound is € 164,92

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.

Combination test: With the combined test, you will receive a result presented as 1 out of … . This is the risk of your baby having trisomy 21, 18 and 13.
If the result is between 1: 5 and 1: 200, you can participate in the Trident 1 study, where the options are: expectative (do nothing), do the NIPT test, perform a chorionic villus sampling (CVS) or an amnion puncture (AP).

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

  • Trisomy 21, 18 and 13: There is a 99,99% chance that the baby does not have trisomy 21, 18 and 13 and a 0,001% 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%).

Combinationtest: No, although physical abnormalities are occasionally identified during the ultrasound.

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.

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CALL OR MAIL
020 7231757 Practice
020 7231751 Team Femme
020 7231752 Team Amsterdam
020 7231756 Medical professionals
020 7231758 Fax number:
info@femme-amsterdam.com

ADDRESS
Frans van Mierisstraat 50a
1071 RV Amsterdam

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With urgent questions you can call always, 24/7, your team.
If you want to make an (follow-up) appointment, call us during our office hours or fill in our contact form.

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