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Timing of referral for prenatal genetic counselling
Author(s) -
Schmid Maximilian,
Drahonsky Regina,
FastHirsch Christa,
Baumühlner Konstantin,
Husslein Peter,
Blaicher Wibke
Publication year - 2009
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2201
Subject(s) - genetic counseling , medicine , prenatal diagnosis , referral , pregnancy , obstetrics , prenatal care , pediatrics , genetic testing , disease , gestational age , family history , fetus , family medicine , population , surgery , genetics , environmental health , biology
Abstract Objective To evaluate the timing of referrals for prenatal genetic counselling. Method The data of 406 consecutive patients referred because of a family history of genetic disease or a suspected risk factor for genetic disease other than an unfavourable first trimester screening outcome were retrospectively analysed. Results In 37.2% (151/406) of included patients, a pregnancy was already ongoing. The mean gestational age at first contact was 13.6 weeks (SD 5.5 weeks). The main counselling issues were previous pregnancy with abortive outcome (ICD O00‐O08) 23.9% (97/406), chromosomal abnormalities (ICD Q90‐Q99) 16.7% (68/406) and metabolic disorders (ICD E70‐E90) 9.9% (40/406). As a result of prenatal genetic counselling, invasive prenatal diagnostic procedures were performed in 11.3% (46/406) of all patients. Conclusion Patients are often referred to prenatal genetic counselling when prenatal diagnosis of a familial genetic condition is no longer feasible, preventive measures are limited and alternative reproductive options have become impossible. Healthcare providers are challenged to improve services so prenatal genetic counselling can take place before conception. Copyright © 2009 John Wiley & Sons, Ltd.