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Testing for serious genetic diseases now possible before pregnancy

14 January 2016

The University Medical Centre Groningen is the first centre in the Netherlands to offer a preconception genetic screening test to all couples considering parenthood. The new test will indicate whether their future baby has a chance of having a serious genetic disease, even if there is no incidence in the family. The UMCG is going to study the uptake, psychological impact and practical feasibility of the test, being offered by their GP.

For couples wishing to start a family, preconception carrier screening (PCS) tests their genetic carrier status for 50 severe genetic diseases. The test is carried out before the woman becomes pregnant and calculates the chance of their baby having a severe genetic disease. These diseases are due to anomalies in certain genes, and a total of 70 genes related to these diseases will be examined in both the prospective mother and father. All 50 diseases are severe, untreatable, and either present at birth or develop at a very young age. They lead to serious physical and/or mental disability, sometimes causing severe pain and early death. Carriers of these disease genes are healthy and usually unaware of their existence, as the disease will not normally have manifested in their families.

Genetic counselling

​​​ The chance of both a man and a woman carrying a mutation in the same disease gene from this test is 1 in 150. If this is the case, the chance that their child will be affected by the disease is 1 in 4. These couples will be referred to the UMCG for genetic counselling. They must then decide whether, and how, to act on the test results. Affected couples have the options of deciding whether they wish to become pregnant naturally and then undergo chorionic villus sampling (CVS) during the pregnancy, or to ask for a sperm or egg donation from someone who does not carry the disease. They can also choose to ignore the test results or decide not to have children (together).

Psychological impact

Together with fifteen GPs from the northern Netherlands, the UMCG will study how many couples accept the test offered by their GP and what the psychological impact of offering the test is on those who do or do not take the test. The researchers will ask couples to complete a detailed questionnaire on how they feel about the preconception screenings test being offered to them. They will also be asked how they experienced making the decision to take the test and what they chose to do with the results.

The UMCG also wants to find out whether it would indeed be feasible for GPs to offer the test. Previous research has shown that both couples and GPs are keen to use this option, but some practical problems still need to be resolved. The study will determine whether couples are given enough information to make a well-informed decision about taking the test, and whether they understand this information correctly. Another aspect will be whether GPs are able to provide enough information in a short time without playing an advisory role or trying to steer couples in a particular direction.

1000 couples

The UMCG hope to contact around 1000 couples who are eligible for the test; this number will include couples who choose not to take it. The study results will be used to decide whether to offer the test on a larger scale and whether this can be done via the GP. The study will take two years.

More information

More information about the preconception screening test can be found at:

Last modified:10 June 2022 08.50 a.m.
View this page in: Nederlands

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