Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-Genetic Counseling and Reproductive Options: What Nephrologists Need to Know

Genetic Counseling and Reproductive Options: What Nephrologists Need to Know

Video Transcription

Video Summary

Albertine van Eerde, a Dutch clinical geneticist, explains genetic counselling and reproductive options for families at risk of monogenic kidney disease. She urges nephrologists to continually reassess whether a patient’s condition may be genetic, using categories from “not genetic” to “molecularly confirmed,” and to weigh “softer” factors like outdated testing, upcoming kidney donation, at-risk relatives, pregnancy, or family-planning wishes. Genetic counselling is broader than reporting results: it identifies family needs, supports adaptation, provides education, and enables non-directive informed choices. Couples may learn they are high-risk because a parent is affected, a prior child/pregnancy was affected, or via carrier screening. Six reproductive paths are outlined: accept risk, prenatal diagnosis (PND), preimplantation genetic testing (PGT), gamete donation, adoption/foster care, or not having (as many) children. PND includes CVS and amniocentesis (small miscarriage risk); noninvasive approaches include NIPT and ultrasound. PGT requires a known pathogenic variant, can take 1–2 years, and has IVF-like success rates. Patient preferences often change over time, so discussions should be early and revisited regularly.

Asset Subtitle

Albertien M. van Eerde

Keywords

genetic counselling

monogenic kidney disease

reproductive options

prenatal diagnosis (CVS, amniocentesis, NIPT)

preimplantation genetic testing (PGT)

carrier screening and family planning