Preimplantation Genetic Testing for Monogenic Kidney Disease

Area of Science:

• Medical Genetics
• Reproductive Medicine
• Nephrology

Background:

• Genetic causes are increasingly identified for pediatric and adult-onset kidney diseases.
• Preimplantation genetic testing (PGT) is a reproductive technology to prevent transmission of inherited mutations.
• This study reviews 25 years of PGT for monogenic kidney diseases in The Netherlands.

Purpose of the Study:

• To provide a clinical overview of PGT for monogenic kidney diseases.
• To analyze referral trends and outcomes over 25 years.

Main Methods:

• Retrospective cohort study of couples counseled for PGT.
• Data collected from January 1995 to June 2019 at a national PGT expert center.
• Statistical analysis using chi-squared tests.

Main Results:

• 98 couples were counseled; 53% opted for PGT.
• Most common indications: Autosomal Dominant Polycystic Kidney Disease (38%), Alport syndrome (26%), Autosomal Recessive Polycystic Kidney Disease (9%).
• 65% of couples with PGT cycles had at least one live birth of an unaffected child; 38% declined PGT.

Conclusions:

• Referrals for PGT, including for adult-onset diseases, have steadily increased.
• Despite some couples declining PGT, a majority of those proceeding with testing achieved live births of unaffected children.
• PGT is an effective option for preventing the transmission of monogenic kidney diseases.