Pregnancy Management for Partner with Hereditary Hemorrhagic Telangiectasia (HHT)
When the father has HHT (Osler-Weber-Rendu disease), the primary pregnancy management need in the second trimester is fetal echocardiography screening between 16-26 weeks of gestation, as the fetus has a 50% risk of inheriting this autosomal dominant condition, which can manifest with cardiac and vascular malformations. 1, 2
Genetic Counseling and Risk Assessment
The fetus has a 50% probability of inheriting HHT since this is an autosomal dominant disorder caused by mutations in either the ENG gene (HHT1) or ACVRL1 gene (HHT2). 2
Referral to a fetal cardiologist is indicated in the second trimester because there is an increased risk of transmitting congenital heart disease to offspring when a parent has vascular malformations. 1
Genetic counseling should be offered to discuss the inheritance pattern, potential manifestations in the child, and available prenatal diagnostic options if desired. 2
Second Trimester Fetal Surveillance
Detailed fetal echocardiography should be performed between 16-26 weeks of gestation to screen for cardiac arteriovenous malformations (AVMs) and structural cardiac anomalies that can occur with HHT. 1
A comprehensive anatomic ultrasound (level II) should evaluate for other vascular malformations, particularly in the brain, lungs, and liver, though many HHT manifestations may not be detectable prenatally. 3
Standard second-trimester aneuploidy screening is not specifically altered by paternal HHT, as this is not a chromosomal condition. 1
Maternal Considerations
The mother herself requires no special pregnancy management related to paternal HHT, as she is unaffected by the condition. Her pregnancy should follow routine obstetric care guidelines. 4, 5
Standard prenatal care, routine ultrasound surveillance, and delivery planning proceed normally when only the father is affected. 4
Delivery Planning
Delivery should occur at a tertiary center with neonatal intensive care capabilities if fetal AVMs or cardiac abnormalities are detected, to ensure immediate access to pediatric cardiology and potential interventions. 1, 6
Mode of delivery is not influenced by paternal HHT alone and should be determined by standard obstetric indications. 1
Vaginal delivery is generally preferable to cesarean delivery except for standard obstetric contraindications. 1
Postnatal Management
The pediatric provider must be notified of the paternal HHT diagnosis at delivery to ensure appropriate neonatal screening and long-term surveillance planning. 1
Newborn screening for HHT manifestations should include careful examination for telangiectases (though these typically develop later in childhood) and consideration of imaging for pulmonary AVMs in childhood. 2, 3
Genetic testing of the infant can be offered to confirm or exclude HHT inheritance, which guides long-term surveillance strategies. 2
Critical Pitfalls to Avoid
Do not confuse paternal HHT with maternal HHT, which would require extensive maternal screening for pulmonary, cerebral, and hepatic AVMs due to pregnancy-related hemodynamic changes that increase complication risks. 3, 6
Do not delay fetal echocardiography beyond 26 weeks, as this is the optimal window for detailed cardiac assessment. 1
Ensure documentation of family history is clear so the neonate receives appropriate long-term follow-up for HHT manifestations, which often develop in childhood or adolescence. 2, 3