{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T07:56:22Z","timestamp":1759564582049},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T00:00:00Z","timestamp":1172793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Mutations in the <jats:italic>APC, NF2<\/jats:italic> and <jats:italic>BRCA1<\/jats:italic> genes cause adult\u2010onset cancer predisposition syndromes. Prenatal diagnosis (PND) and selective pregnancy termination for adult\u2010onset disorders is emotionally difficult and, in some cases, socially not well accepted. Preimplantation genetic diagnosis (PGD) appears as an attractive alternative to PND, as it ensures the establishment of a pregnancy free of the mutation from the onset, circumventing the potentially difficult decision of termination of pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Development of single\u2010cell PCRs using Epstein\u2010Barr virus transformed lymphoblasts as single\u2010cell model, followed by clinical application in PGD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of five duplex\u2010PCRs were developed, three for adenomatous polyposis of the colon (APC), one for neurofibromatosis type 2 (NF2) and one for inherited breast and ovarian cancer caused by BRCA1 mutations. Eleven clinical cycles were performed, resulting in the birth of an unaffected girl. For one of the couples undergoing PGD for NF2, a spontaneous pregnancy ensued after five unsuccessful PGD cycles. The couple underwent chorionic villus sampling (CVS) and the application of the same protocol as used during PGD showed an unaffected fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this work, we present the development and clinical application of PGD for three cancer predisposition syndromes. 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