She or he then needs to evaluate which of the options fits best with her or his capacity and personal values. An indication for referral to a clinical genetics centre may be identified during PCC. A couple will then have to decide whether or not they wish to engage in further genetic counselling. Given the possible consequences of risk estimation or genetic

testing, it is important that a couple is offered non-directive counselling as part of genetic PCC to assist them in this decision as well. Thus, focusing on genetic and non-genetic risk factors in preconception counselling requires the use of different counselling strategies, namely directive and non-directive counselling, respectively, and different interventions in optimizing the outcome of pregnancy. This is important because it implies that the counsellor in PCC will HSP inhibitor have

to be able see more to switch counselling strategies as appropriate during the consultation. Reproductive options If couples are at increased genetic risk or are offered genetic preconception screening, they should be informed about the reproductive options that are available to them. When couples are proven carriers of a disease allele, they may opt for prenatal diagnosis (PND), preimplantation genetic testing (PGD), sperm or egg cell donation, natural conception or refraining from having children. The non-directive approach in the counselling implies that the counsellor does not have a preference with regard

to engaging in genetic screening or with respect to reproductive options. The counsellor aids the couple in discovering what the best option is for them. Prenatal diagnosis In PND, chorionic villus sampling and amniocentesis are invasive methods to collect foetal material (Raymond et al. 2010). Both methods carry a small risk of miscarriage. Chorionic villus sampling is possible at 10–13 weeks gestation, and the test result may be known before 14 weeks gestation. This implies that pregnancy may be ended by means of curettage. Amniocentesis is performed 6-phosphogluconolactonase around 15–17 weeks gestation, and the test result may be known after approximately 2–3 weeks. In case of an 4EGI-1 purchase affected foetus, the pregnancy may be ended by inducing labour in a hospital setting. When there is an increased risk for a structural congenital anomaly in offspring, PND by advanced ultrasound examination is frequently possible. Detecting an anomaly provides the opportunity to influence the course of the pregnancy. However, normal ultrasound findings are not informative for all anomalies/disorders (e.g. anal atresia or learning disabilities). Our clinical impression is that this subgroup of at-risk individuals may experience a significant amount of distress because they know there is an increased risk of affected offspring, but they have no options to reduce this risk.