Preimplantation Genetic Testing for Monogenic Kidney Disease

Rozemarijn Snoek, Marijn F. Stokman, Klaske D. Lichtenbelt, Theodora C. van Tilborg, Cindy E. Simcox, Aimee D. C. Paulussen, Jos C. M. F. Dreesen, Franka van Reekum, A. Titia Lely, Nine V. A. M. Knoers, Christine E. M. de Die-Smulders, Albertien M. van Eerde*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1279-1286
Number of pages8
JournalClinical journal of the American Society of Nephrology
Issue number9
Publication statusPublished - 7 Sept 2020


  • genetic renal disease
  • Alport syndrome
  • Genetic Testing
  • Kidney Diseases
  • RISK

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