Preimplantation Genetic Testing for Monogenic Kidney Disease.

Autor:	Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Tilborg TC; Department of Reproductive Medicine and Gynaecology, University Medical Center Utrecht, Utrecht, The Netherlands., Simcox CE; Department of Reproductive Medicine and Gynaecology, University Medical Center Utrecht, Utrecht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Dreesen JCMF; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., van Reekum F; Department of Nephrology, University Medical Center Utrecht, Utrecht, The Netherlands., Lely AT; Department of Obstetrics, University Medical Center Utrecht, Utrecht, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., de Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Jazyk:	angličtina
Zdroj:	Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2020 Sep 07; Vol. 15 (9), pp. 1279-1286. Date of Electronic Publication: 2020 Aug 27.
DOI:	10.2215/CJN.03550320
Abstrakt:	Background and Objectives: A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that helps prospective parents to prevent passing on (a) disease-causing mutation(s) to their offspring. Here, we provide a clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease in The Netherlands. Design, Setting, Participants, & Measurements: This is a retrospective cohort study of couples counseled on preimplantation genetic testing for monogenic kidney disease in the national preimplantation genetic testing expert center (Maastricht University Medical Center+) from January 1995 to June 2019. Statistical analysis was performed through chi-squared tests. Results: In total, 98 couples were counseled regarding preimplantation genetic testing, of whom 53% opted for preimplantation genetic testing. The most frequent indications for referral were autosomal dominant polycystic kidney disease (38%), Alport syndrome (26%), and autosomal recessive polycystic kidney disease (9%). Of couples with at least one preimplantation genetic testing cycle with oocyte retrieval, 65% experienced one or more live births of an unaffected child. Of couples counseled, 38% declined preimplantation genetic testing for various personal and technical reasons. Conclusions: Referrals, including for adult-onset disease, have increased steadily over the past decade. Though some couples decline preimplantation genetic testing, in the couples who proceed with at least one preimplantation genetic testing cycle, almost two thirds experienced at least one live birth rate. (Copyright © 2020 by the American Society of Nephrology.)
Databáze:	MEDLINE
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