Fortunately, by far most children are born healthy. It is, however, also possible to have your unborn baby tested for a number of congenital disorders. This is known as prenatal screening. There are two screenings: the screening for Down, Edwards and Patau syndromes and the 20-week ultrasound (fetal anomaly scan). Undergoing screening is not required. You determine if you want to have the tests done. During your first appointment, we will ask if you want to know more about the screening. If you do, we will make an appointment to discuss it.
Screening for down-, edwards- and patausyndroom
People with Down syndrome have an intellectual disability and their level of development cannot be predicted. They suffer more often from health problems; in general these can be treated well. Children with Edwards or Patau syndrome generally die before or during birth. They rarely live past the age of one. These children suffer from serious intellectual and physical disabilities.
You may choose to screen for your child’s risk of having Down, Edwards or Patau syndrome. There are two tests to choose from: the combined test and the non-invasive prenatal test (NIPT).
The NIPT
The NIPT is new and tests the blood of the pregnant woman from 11 weeks of pregnancy. During pregnancy a small amount of genetic material (DNA) from the placenta is also in your blood. This placental DNA is almost always the same as the DNA of the child. The laboratory is then able test the child for signs of Down, Edwards and Patau syndromes.
The laboratory can also determine other chromosomal abnormalities. These abnormalities could be detected in the child, the placenta and even sometimes in the pregnant woman. These are additional findings. You decide whether you want to be informed about additional findings.
When the result is non-abnormal, this is almost always correct. You do not require any follow-up testing. In the case of an abnormal result, there is a chance that the child does not have the disorder. You can only be certain if you have a chorionic villus sampling test or amniocentesis.
You can have your blood drawn for the NIPT in Amstelland Hospital and Amsterdam UMC, location VUmc.
Read more about this screening at www.onderzoekvanmijnongeborenkind.nl
The combined test
The combined test consists of a blood test of the pregnant woman’s blood between 9 and 14 weeks of pregnancy and an ultrasound scan measuring the nuchal fold of the child between the 11 and 14 weeks of the pregnancy.
The combined test calculates the risk of a child having Down, Edwards or Patau syndrome. The test therefore cannot provide any certainty. An increased risk is defined as a chance greater than 1 in 200. In the case of an increased risk, you may choose to have additional follow-up testing done such as screening with the NIPT, or tests as chorionic villus sampling or amniocentesis. Chorionic villus sampling or amniocentesis will clearly determine whether your child has one of these syndromes.
If the nuchal fold is 3.5mm or more, you always have the option for additional ultrasound testing. A thickened nuchal fold does not only occur with Down, Edwards or Patau syndrome but can also be an indication of another abnormality. In some cases, the ultrasound technician will discover other disorders during the nuchal fold test (additional findings). If you are having the combined test done, you will always be informed of any additional findings.
The ultrasound of the combined test can be done at the screeningscentrum SAM& (in Amstelland hospital). The blood test is done at Amstelland hospital’s laboratory.
Read more about this screening at www.onderzoekvanmijnongeborenkind.nl
Costs and insurance coverage
The combined test costs €177. The NIPT costs €175. Basic health insurance does not cover the costs of these tests. In some cases additional insurance covers the cost of the combined test. For questions regarding this, contact your health insurance provider.
Fetal anomaly scan (20-week ultrasound)
Between 18 and 22 weeks of pregnancy a screening ultrasound can be performed to assess and pick up any eventual anomalies to the child’s anatomy and organs. The scan looks at the head, heart, spine, abdominal cavity and arms and legs. The ultrasound checks the baby’s growth, the location of the placenta and to see if there is enough amniotic fluid. It is usually possible to determine the baby’s gender if you wish to know.
It is not possible to see all anomalies with this ultrasound. There is never a guarantee of a healthy baby. You will be informed if the ultrasound reveals any abnormalities or if there is any doubt and will be referred to an academic hospital. In a number of cases follow-up testing reveals that there is nothing wrong.
The ultrasound can be done at the screeningscentrum SAM&, performed by a specialised sonographer using the latest equipment. In the case of a medical indication, the anomaly scan is done in an academic hospital. This screening ultrasound is covered by basic health insurance.
Prenatal screening for medical reasons
Some tests are only done if you are at increased risk of having a child with an abnormality. This could be because a member of your immediate family has a hereditary disorder. Other reasons for follow-up testing are if the results of the combined test show an increased risk and an abnormal NIPT result. A chorionic villus sampling or amniocentesis can provide more certainty.
Read more information about invasive testing, the advanced ultrasound exam and the medical indications for these on the website of the Amsterdam UMC.
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