Abstract
Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple’s resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array.
Highlights
Until recently, conventional karyotyping (CK) was the gold standard to detect chromosomal aberrations in prenatal diagnosis (PND)
We recommend that such facilitation is accomplished by inviting pregnant couples to consider what they wish to know about the health of the fetus and whether they wish to engage in PND
The array increases tested disorders in genetic PND. This broadening of the scope of PND may be accompanied by a number of psychological challenges for pregnant couples: Deciding what they wish to learn about the health of their fetus, understanding the possible outcomes of PND, dealing with unexpected diagnoses and susceptibility loci (SL), deciding about the course of their pregnancy and adjusting to the decision outcome
Summary
Conventional karyotyping (CK) was the gold standard to detect chromosomal aberrations in prenatal diagnosis (PND). It seems to be justified to offer pregnant couples the SNP array for all indications in PND. We recently detected a CNV causing Duchenne muscular dystrophy in a patient at increased risk for Down syndrome based on first trimester screening. SL are pathogenic CNVs (by definition, not VOUS), with incomplete penetrance or variable expression, that are associated with a yet unquantifiable chance for (mainly) neurodevelopmental disease (developmental delay, behavioral problems, learning problems, autism spectrum disorders and/or seizures) [14,20]. They are enriched in patient populations, and present in normal controls. We aim to contribute to the development of international consensus
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