From the Guidelines
Trisomy 13, or Patau syndrome, is a severe genetic disorder that should be identified through prenatal screening, including first-trimester biochemistry and/or ultrasound measurements, to provide parents with the option of diagnostic testing and informed decision-making. This condition affects approximately 1 in 10,000 live births, as indicated by the study published in Genetics in Medicine 1. The prognosis for trisomy 13 is poor, with many affected infants not surviving beyond the first few weeks or months of life. Key characteristics of trisomy 13 include:
- Serious heart defects
- Brain abnormalities
- Cleft lip and/or palate
- Extra fingers or toes (polydactyly)
- Small or poorly developed eyes (microphthalmia)
- Various other physical and developmental issues. Management of trisomy 13 focuses on supportive care and addressing specific symptoms rather than curative treatment, as noted in the context of prenatal screening guidelines 1. Genetic counseling is recommended for families affected by trisomy 13, as it can help them understand the condition and make informed decisions about future pregnancies. The risk of trisomy 13 increases with maternal age, and programs considering reporting risks for this condition should be mindful of the reliability of these risks and the associated clinical utility, opting for a risk cutoff that ensures a low positive rate and a high positive predictive value (PPV) 1.
From the Research
Overview of Trisomy 13
- Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants, associated with high mortality rates and severe congenital abnormalities 2.
- The diagnosis of trisomy 13 has been considered incompatible with life, but recent literature suggests improved outcomes in infants who receive intensive care at birth 3.
Clinical Management and Complications
- The clinical management of trisomy 13 varies based on the organ systems involved, and the current standard of care has been withholding intensive support and providing comfort care 3.
- However, intensive cardiac management, such as pharmacological intervention for ductal patency and cardiac surgery, has been shown to improve survival in patients with trisomy 13 or trisomy 18 4.
- Children with trisomy 13 experience various complications, including cardiac, respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications, which can impact their quality of life 2.
Shift in Paradigm of Care
- There is a growing body of evidence that the traditional view of management for trisomy 13 and trisomy 18 is changing, with more parents being offered and choosing technological interventions, including cardiac surgery 5.
- The goal of care for children with trisomy 13 is shifting towards a more comprehensive and interdisciplinary approach, including cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care 6.
Surveillance and Monitoring
- Surveillance guidelines for children with trisomy 13 are being developed to aid in the detection and documentation of complications, and to provide screening recommendations for rapid detection and treatment 2.
- The development of monitoring and treatment guidelines is crucial for the increasing number of providers who will be caring for these patients throughout their lives 2.