NIPD – ein Dammbruch in der pränatalen Diagnostik?

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• 作者：Prof. Dr. K. Vetter MD PhD MBA FACOG FRCOG
• 刊名：Der Gyn?kologe
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：49
• 期：6
• 页码：448-450
• 全文大小：118 KB
• 刊物主题：Gynecology; Obstetrics/Perinatology; Endocrinology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1433-0393
• 卷排序：49

文摘

After 40 years of genetic analyses on the unborn fetus the introduction of non-invasive prenatal genetic diagnostics (NIPD) did not bring about a dam break. Over all this time there had never been a clear rational line concerning genetic analyses and the aim of investigations was determined by technical developments rather than orientation towards the mother, the family or the community. The implementation of the German Genetic Diagnostic Act in 2010 set new standards with respect to structured information and counseling by obstetricians and gynecologists. The very high precision of NIPD among the non-invasive and safe methods of genetic diagnostics concerning, for example detection of trisomy 21, makes it quasi unrivaled in the various evaluation variants. Thus, in recent years NIPD has replaced risk calculations with respect to trisomy 21. With NIPD in particular, unintended results (incidental findings) can be found in one of the parents, which must be clarified and explained during prenatal counseling. Reimbursement by health insurance funds is a problem because a disease sensu strictu cannot be identified; nevertheless, individual solutions for financial compensation are being found in many cases.KeywordsGenetic counselingMedical ethicsReproductive rightsPhysician-patient relationsPersonal Autonomy