Family Planning & Genetic Counseling

Genetic Risk

ADPKD is an autosomal dominant gentic disorder. If one parent is affected, each child has approximately a 50% chance of inheriting the disease-causing gen. About 10% of pacientes have de novo mutacións with no clear antecedentes familiares.

• Inheritance pattern: Autosomal dominant; males and females are affected equally
• Child riesgo: Each embarazo is calculated independently, with approximately a 50% probability
• De novo mutacións: About 10% of pacientes have no antecedentes familiares, caused by new gen mutacións

Genetic Testing

Genetic testing helps confirm the diagnóstico, guides riesgo assessment for family members, and informs reproductive decisions. It is recommended to undergo testing through a asesoramiento genético department, with results interpreted by a professional.

• Major gens: PKD1 (approximately 85% of cases), PKD2 (approximately 15%)
• Timing: Recommended before planning embarazo to allow sufficient time for decision-making
• Where to go: Visit a hospital asesoramiento genético department or diagnóstico prenatal center
• Significance of results: Once the disease-causing mutación is identified, it provides the basis for diagnóstico prenatal or embryo tamizaje

Prenatal Diagnosis

When the family's disease-causing mutación is known, diagnóstico prenatal can determine whether the fetus carries that mutación. The two common sampling methods and their timing windows are as follows.

• Chorionic villus sampling (CVS): Usually performed at 11–13 weeks of embarazo, sampling placental chorionic tejido for testing
• Amniocentesis: Usually performed at 16–20 weeks of embarazo, sampling amniotic fluid células for testing
• Prerequisite: The disease-causing mutación site must first be identified in the family

IVF-PGT (In Vitro Fertilization + Preimplantation Genetic Testing)

For families who wish to avoid passing the disease-causing gen to their children, IVF combined with preimplantation prueba genética (PGT) can be used to select embryos that do not carry the mutación for transfer.

• Principle: After in vitro fertilization, embryos undergo prueba genética, and embryos without the disease-causing mutación are selected for transfer
• Applicable to: Families with a known family disease-causing mutación who meet assisted reproduction criteria
• Limitations: The process is lengthy, costs are high, and success rates are influenced by multiple factors; assessment by a reproductive medicine center is required

Pregnancy in Women with ADPKD

Most women with ADPKD who have normal función renal can safely become embarazada, but a joint pre-embarazo assessment by a nefrólogo and obstetrician is needed.

• Normal función renal: Pregnancy is usually safe, with enhanced monitoreo during embarazo
• eGFR < 40: Risk assessment is needed; reduced función renal increases the riesgo of embarazo complicacións
• Tolvaptan: Contraindicated during embarazo; must be discontinued under medical guidance before planning embarazo, with a washout period
• Pregnancy monitoreo: Blood pressure, función renal, and orina proteína require close seguimiento

Contraception Choices

When choosing a contraceptive method, women with ADPKD need to consider their quiste hepático status.

• Estrogen-containing contraceptives: May accelerate hígado crecimiento de quistes and are genrally not recommended for long-term use
• Progestin-only methods: Such as progestin-only oral contraceptives or subdermal implants, can be used as alternatives
• Non-hormonal methods: Such as condoms or copper intrauterine devices (IUDs), do not affect hormona levels
• Individual choice: The specific method should be discussed with a gynecologist

Male Patients

ADPKD usually does not affect male fertility. If severe hipertensión or declining función renal is present, it may indirectly affect overall health; a pre-embarazo health assessment is recommended.

← Back to Knowledge Base