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Combined test

The combined test can be carried out in the beginning of the pregnancy to assess the chance of a baby with
Down Syndrome [ read more... ], Patau Syndrome [ read more... ] and Edwards Syndrome [ read more... ].
Diaserie start The test consists of a combination of two examinations:

  1. a blood test of the pregnant woman
  2. an ultrasound of the baby’s neck

Nuchal translucency
The nuchal fold is fluid just behind the skin of the baby’s neck and is present in all babies up to at least 14 weeks. In case of a thickened nuchal fold (from 3.5mm) there is an increased chance of a child with a severe defect. This could be a syndrome like Down Syndrome. But can also be a sing of a hartdefect or other anomalies. You can find more information about the combined test (nl) via this link.

If possible, other things are also assessed, such as the head of the baby, the abdominal wall, limbs, stomach an bladder. Our sonographers have specialized themselves by certification at the FMF (Fetal Medicine Foundation). If possible they can ask for permission to look further than only the measurement of de fetus and the nucal transeluncency. However, this is not officially part of the test. The test is limited to measuring the crown-rump length, the skull and the nuchal fold.

The test
The test can take place between the 11th and 14th week of the pregnancy, preferably between 12½ and 13½ weeks.

The result

You will receive the result by mail. In general the same day ore the day after. If the biochemistry of the blood is not present at the time of the ultrasound, the result will be received in two ore three days. In case of an increased risk for Down, Patau and ore Edwards, your obstetrician ore midwife will be informed right away so that he ore she can take further steps for counseling and, if wanted, further investigation. When a thick nuchal fold ore other anomalies are seen on the ultrasound (NT from 3.5 mm) you will be informed of this directly. If the biochemistry (needed for the combined test) is not known there will subsequently be no need to wait for the blood test because there is a high risk for an anomaly anyway. An appointment will be scheduled, as soon as possible, at the Radboud Hospital in Nijmegen.

Reimbursement by health insurer
The test is reimbursed by the health insurer if there is a medical reason or when your age is 36 or above. In all other instances you will have to pay for the test yourself. The costs of this test are €162.20 (2014). In 2015 maternal age will be no longer an indication for reimbursement by the health insurer. For the combined test you must always bring a referral from your midwife, obstetrician and/or general practitioner. The test cannot take place without a referral.

Down syndrome

Down syndrome is a congenital defect. It includes a mental retardation, characteristic physical features and certain medical problems (for example a heart defect).

Down Syndrome is caused by an additional chromosome 21. In the past this used to be scientifically referred to as Mongoloid idiocy or mongolism. Nowadays these terms are no longer used. People with Down syndrome are occasionally called “mongol” even though the syndrome has nothing to do with Mongolians.
Read more about the Down syndrome (nl).

Patau syndrome

Patau syndrome or trisomy 13.
There is an additional chromosome 13 in this syndrome. It is a serious chromosomal condition where children often die before birth. Of those that are born alive, 82-85% die in the first month, 85-90% will not grow older than one year.

In medical literature only five cases are described of patients with Patau syndrome who have grown older than ten years.
Typical characteristics of these conditions are:

Edwards syndrome

Edwards syndrome, or trisomy 18, is a serious chromosomal condition.
There is an additional chromosome 18 in this syndrome. These children often die shortly after birth because of the severe congenital defects. 90% of the children die in the first year. Not more than 1% will make it to 10 years.
Typical characteristic of these conditions are: