Kidney Week

Abstract: SA-PO0609

Supporting Reproductive Choices in Monogenic Kidney Diseases: Real-World Experience with Preimplantation Genetic Testing

Session Information

• Monogenic Kidney Diseases: Tubular and Other
  November 08, 2025 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases

Authors

• Tinoco, Adria, Fundacio Puigvert, Barcelona, CT, Spain

Adria Tinoco, PhD

• Toso, Diego, Fundacio Puigvert, Barcelona, CT, Spain

Diego Toso

• Cuyas, Berta, Institut de Recerca Sant Pau, Barcelona, CT, Spain

Berta Cuyas, MD

• Pilco Teran, Melissa, Fundacio Puigvert, Barcelona, CT, Spain

Melissa Pilco Teran, MD

• Almeida, Catarina, Fundacio Puigvert, Barcelona, CT, Spain

Catarina Almeida, MD

• Guirado, Lluis, Fundacio Puigvert, Barcelona, CT, Spain

Lluis Guirado, MD, PhD

• Ars, Elisabet, Fundacio Puigvert, Barcelona, CT, Spain

Elisabet Ars, PhD

• Torra, Roser, Fundacio Puigvert, Barcelona, CT, Spain

Roser Torra, MD, PhD

• Furlano, Monica, Fundacio Puigvert, Barcelona, CT, Spain

Monica Furlano, MD, PhD

Background

Identifying the underlying genetic cause enables prognosis, treatment planning and reproductive decision-making in monogenic inherited kidney diseases (IKD). Preimplantation genetic testing (PGT), offers the possibility of selecting unaffected embryos. This study aims to describe the clinical application of PGT in individuals affected by IKD, providing insight into patient characteristics, decision-making factors, and outcomes at a specialized fertility center in Spain.

Methods

This is a retrospective study of monogenic IKD patients who attended the Reproductive Medicine Department at Fundació Puigvert-Hospital de Sant Pau, in Spain, for PGT (2016–2024).

Results

During the study period, 870 fertility clinic visits were recorded, with 10.1% (88/870) involving monogenic IKD.

Most patients were women (72%; 63/88), with a mean age of 32 years and no prior pregnancies (73%; 64/88). The mean Anti-Mullerian Hormone (AMH) level was 2.9 ng/ml; 15% had levels below 1 ng/ml.

Autosomal dominant inheritance was most common (84%; 74/88), mainly due to Autosomal Dominant Polycystic Kidney Disease (ADPKD) (63%; 55/88). Autosomal recessive and X-linked disorders each accounted for 8% (7/88).

Affected women had a mean eGFR of 100 mL/min/1.73 m² , 75% with chronic kidney disease (CKD) G1. Affected men had a mean eGFR of 80 mL/min/1.73 m² (52% CKD-G1), and 8% (2/25) had undergone kidney transplantation.

Among the 88 counseled couples, 60% (53/88) chose PGT. To date, 67% (35/52) completed at least one cycle. Of these, 60% (21/35) had a live birth and 6% (2/35) are pregnant. Eighteen couples (34%) await validation.

In 40% (35/88), PGT was not pursued—mainly due to spontaneous pregnancy (40%; 14/35), low ovarian reserve (17%; 6/35), or patient refusal (29%; 10/35).

Only a family history of advanced CKD (p=0.04) was significantly associated with the decision to perform PGT. Maternal age, inheritance pattern, and renal disease severity were not significant factors.

Conclusion

Women with IKD most frequently attend pre-pregnancy genetic counseling and a family history of advanced CKD independently influences in this decision.

Our study demonstrates the importance of pregestational genetic diagnosis and comprehensive advice on reproductive options in patients with IKD who are of childbearing age.

Funding

• Government Support – Non-U.S.

Digital Object Identifier (DOI)

• doi: 10.1681/ASN.2025wfc4xwxs