For couples with a relatively high risk in advance of children with a serious hereditary disorder, a test has been available for some time within medical care to have this examined. However, this test is still unknown in many of these couples with a desire to have children and their caregivers do not always draw their attention to this possibility.
Preconception Carrier research
That is why a new medical guideline Preconception Carrier Research for High Risk Groups (PDO) was published on 25 June. The aim of this guideline is to improve the accessibility of this test, so that more of these couples, together with their doctor, can make an informed choice.
Severe hereditary disease
The guideline provides care providers with tools to recognize couples before pregnancy that are more likely than average to both be ‘carriers’ of the same affected gene and therefore have a higher chance of having a child with a serious hereditary disorder. In addition, the guideline provides recommendations for informing about the possibility of testing for such a carrier prior to pregnancy. The guideline also provides support in applying for the most appropriate test and the discussion surrounding it, usually in clinical genetics, so that couples can make an informed choice.
Fortunately, most children are born healthy in the Netherlands. About 1 in 600 children, however, unexpectedly have a serious hereditary disease after birth, of which both parents are carriers without their knowledge, because the families of these couples do not have the disease. Every person is a carrier of 7 to 20 serious hereditary disorders; most are rare. The chance that both expectant parents are carriers of the same serious hereditary disease is on average 1 in 150 in the Dutch population. For these couples, there is an increased risk of 25% in every pregnancy of having a child with the condition.
In addition to these average risks, there are so-called ‘high-risk groups’. They have a higher than average chance of being a carrier couple because of their place of birth or origin, or because it concerns a relationship within their own family. If these couples are informed of their increased risk and testing ability prior to pregnancy, they can make an informed decision about having children. There are several options for basing that decision, such as pre-pregnancy embryo selection or pregnancy testing. They may also decide to forgo a pregnancy, or to consciously prepare for the birth of an affected child.
If the tests and interviews take place within medical care, these will be reimbursed by the health insurers (taking into account the deductible), but please note that at the moment this only applies to these couples with an increased risk. With this guideline, the parties also hope to contribute to the dialogue about a possible future offering of carrier screening to all couples with a desire to have children, even without a previously known higher than average risk.
View the guideline in the Guidelines database (link)
The guideline has been drawn up on behalf of the Association of Clinical Genetics Netherlands with the support of the Knowledge Institute of the Federation of Medical Specialists, in close collaboration with the Association of Clinical Genetic Laboratory Diagnostics, the Royal Dutch Organization of Obstetricians, the Dutch Association of Obstetrics & Gynecology, Dutch Huisartsen Genootschap, the Dutch Association of Pediatrics and the Association of Fertility Physicians. The VSOP Association of Cooperating Parent and Patient Organizations was also closely involved. As a result, the experiences, wishes and perspective of both care providers and patients have been explicitly taken into account. The guideline development was financed by the Quality Fund Foundation for Medical Specialists.
Source: Dutch Clinical Genetics Association