Trisomy 13, also known as Patau syndrome, is a chromosomal aneuploidy most often caused by meiotic nondisjunction and characterized by an extra copy of chromosome 13. The condition disrupts early embryologic development, particularly involving the prechordal mesoderm, resulting in abnormal midline patterning. Common phenotypic features include holoprosencephaly, craniofacial anomalies, congenital heart disease, central nervous system malformations, and severe multisystem involvement. Trisomy 13 is associated with high rates of neonatal morbidity and mortality, with survival beyond infancy being uncommon. Diagnosis may occur prenatally through ultrasonography, noninvasive prenatal testing, and confirmatory cytogenetic analysis, or postnatally based on clinical findings and karyotype evaluation. Management focuses on supportive, palliative, and family-centered care, guided by prognosis and individual goals of care. This activity for healthcare professionals is designed to enhance clinicians’ competence in recognizing, diagnosing, and managing trisomy 13 across prenatal and postnatal settings. Participants gain a deeper understanding of genetic mechanisms, epidemiology, clinical presentation, and diagnostic strategies, including appropriate use and interpretation of screening and confirmatory tests. The curriculum emphasizes prognosis, differential diagnosis, and ethical considerations, including goals-of-care discussions and recurrence risk counseling. Collaboration among an interprofessional healthcare team, including genetics, neonatology, cardiology, palliative care, and counseling services, is highlighted as essential for coordinated decision-making, effective family communication, and improved patient-centered outcomes.
Credit & MOC Details
Credit information is provided by the course provider. We recommend confirming credit eligibility with the provider or your licensing board before starting the activity.
Credit types
MOC types
FDA REMS
Qualifies for MIPS
Target Specialties
Relevant across 8 specialties.
Specialties served/covered
- Addiction Medicine
- Adolescent Medicine
- Advanced Heart Failure & Transplant Cardiology
- Allergy & Clinical Immunology
- Anatomic & Clinical Pathology
- Blood Banking & Transfusion Medicine
- Brain Injury Rehabilitation
- Breast Imaging
- Cardiac Anesthesia
- Cardiothoracic Surgery
- Cardiovascular Disease
- Chemical Pathology
- Clinical Cardiac Electrophysiology
- Clinical Informatics
- Critical Care Medicine
- Cytopathology
- Dermatopathology
- Diagnostic Radiology
- Endocrinology, Diabetes & Metabolism
- Facial Plastic & Reconstructive Surgery
- Foot & Ankle Surgery
- Forensic Pathology
- Gastroenterology
- General Internal Medicine
- General Operative Anesthesia
- General Otolaryngology
- General Pediatrics
- General Surgery
- Geriatric Medicine
- Head & Neck Surgery
- Hematology
- Hematopathology
- Hospice & Palliative Medicine
- Hospital Medicine
- Interventional Cardiology
- Interventional Radiology
- Laryngology
- Medical Leadership & Administration
- Medical Microbiology
- Medical Oncology
- Medical Toxicology
- Metabolic & Bariatric Surgery
- Molecular Genetic Pathology
- Musculoskeletal Oncology
- Neonatal-Perinatal Medicine
- Nephrology
- Neuro Anesthesia
- Neurocritical Care
- Neurodevelopmental Disabilities
- Neurological & Spinal Cord Injury Rehab
- Neuromuscular Medicine
- Neuropathology
- Neuroradiology
- Nuclear Medicine
- Obstetric Anesthesia
- Obstetrics & Gynecology
- Ophthalmology
- Orthopaedic Sports Medicine
- Orthopaedic Surgery
- Orthopaedic Trauma
- Otology & Neurotology
- Pain Medicine
- Patient Safety & Quality Improvement
- Pediatric Anesthesia
- Pediatric Cardiology
- Pediatric Critical Care Medicine
- Pediatric Emergency Medicine
- Pediatric Gastroenterology
- Pediatric Hematology-Oncology
- Pediatric Infectious Diseases
- Pediatric Neurology
- Pediatric Orthopaedic Surgery
- Pediatric Otolaryngology
- Pediatric Pathology
- Pediatric Radiology
- Pediatric Rehabilitation Medicine
- Pediatric Surgery
- Pediatric Transplant Hepatology
- Physical Medicine & Rehabilitation
- Practice Management & Ethics
- Primary Care Sports Medicine
- Pulmonary Disease
- Regional Anesthesia & Acute Pain
- Rheumatology
- Rhinology
- Shoulder & Elbow Surgery
- Sleep Medicine
- Spine Surgery
- Surgery of the Hand & Upper Extremity
- Surgical Critical Care
- Surgical Oncology
- Thoracic Anesthesia
- Thoracic Surgery
- Transplant Hepatology
- Transplant Surgery
- Trauma Surgery
- Urology
- Vascular Neurology
- Vascular Surgery
- Anesthesiology
- Cardio-Vascular
- Cross-Specialty
- Emergency & Critical Care
- ENT & Head Neck
- GI & Liver
- Infectious Disease
- Internal Medicine
- Medical Subspecialties
- Neurology
- Ob/Gyn
- Oncology & Hematology
- Orthopedics
- Pain & Palliative
- Pathology & Lab
- Pediatrics
- Primary care
- Radiology
- Rehabilitation
- Sports & Exercise Medicine
- Surgery
- Urology
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