Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands

Children/fetuses born with a congenital anomaly are recorded in a local registry of congenital anomalies in the Northern Netherlands. Parents of these children/fetuses often have questions about cause, prognosis, and recurrence risk. Referral to a genetic clinic is one way to obtain information concerning these questions. We were interested in determining to what extent parents were referred for genetic counseling, and investigated the non-referred cases for the estimated need for referral. Furthermore, we measured whether referral rates had improved following the study carried out by Cornel et al. [1992] for the same region. We evaluated data on couples referred or not referred for 2,964 registered children/fetuses during the birth years 1992-1997. The parents of 528 cases (18%) had been referred for genetic counseling. Investigation of the 2,436 non-referred cases showed a high number (1287/53%) of cases with a supposedly "low need for referral." If we consider the remaining 1,149 cases with a moderate or high need for referral to the genetic clinic, the ideal uptake rate is 57% (1149 +/- 528 = 1677 cases) instead of the previously mentioned 18% (528 cases). We concluded that nearly four out of 10 parents of children/fetuses with a congenital anomaly who were considered suitable for referral to the genetic clinic did not make use of this option. Despite increased familiarity with genetics over the years among the community in general and health-care professionals in particular, the EUROCAT registry does not show an improvement in the uptake rate of cases registered with the genetic clinic.