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Trisomy 13
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Educational content from recorded physician discussions — not medical advice. Always talk to your child's care team about your child's situation.
Content of this collection
Introduction - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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Leandra Tolusso, Dr. Mallory Hoffman, and Dr. Laura Galanski introduce the 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 event.
Speakers/Topics include:
• Dan Swarr, MD - Perinatal Outcomes of Fetuses and Infa
video2:14 · Dec 2024
Medical school teaching historically presented trisomy 13/18 as lethal, with survivors assumed to be mosaic; more recent evidence shows full trisomy cases can survive beyond one year with support. — Mallory Hoffman, Mallory Hoffman, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 · 16:48
Mallory Hoffman, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Dr. Mallory Hoffman speaks on Pregnancy Management and Considerations.
video29:34 · Dec 2024
In trisomy 13, the most common lesions are patent ductus arteriosus (32%), atrial septal defects (27%), and ventricular septal defects (28%), all resulting in left-to-right shunting. — James Cnota, James Cnota, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 · 4:40
James Cnota, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Dr. James Cnota provide updates on postnatal cardiac therapies.
video31:06 · Dec 2024
Trisomy 13/18 patients cannot be taken care of in an ambulatory surgery setting due to their comorbidities; they require inpatient care with multidisciplinary and subspecialty emergency care available. — Jagroop (Rupi) Parikh, Laura Glaganski, MD & Jagroop (Rupi) Parikh - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 · 14:13
Laura Glaganski, MD & Jagroop (Rupi) Parikh - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Drs. Laura Galganski and Jagroop (Rupi) Parikh speak on the practical issues in the surgical care of patients with Trisomies.
video24:57 · Dec 2024
Counseling at all stages of care should be tailored to each family and child, should be multidisciplinary and data-driven, and should adapt to multiple risk factors such as gestational age, birth weight, and complexity of surgical anomalies. — Daniel Swarr, Dan Swarr, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 · 24:10
Dan Swarr, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Dr. Dan Swarr speaks on the Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 and 18.
video26:39 · Dec 2024
John Carey, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Dr. John Carey speaks on the future directions and research for Trisomy 13 and 18.
video31:31 · Dec 2024
Some decisions should be easily decoupled (mode of delivery, level of neonatal care, trial of CPAP vs. chronic mechanical ventilation), but others should be closely linked (cardiac repair with possible tracheostomy). — Natasha Henner, Natasha Henner, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 · 17:30
Natasha Henner, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
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In this presentation, Dr. Natasha Henner speaks on family centered prenatal counseling and support.
video33:42 · Dec 2024
Common questions
What do the experts recommend for Trisomy 13?
Expert recommendations for Trisomy 13 center on individualized, case-by-case decision-making rather than uniform approaches. Decisions should not be based solely on the presence of trisomy but must consider the severity of cardiac disease and presence of other anomalies. Surgical intervention is a viable option; approximately 25% of infants with trisomy 13 in one cohort received surgical procedures. Long-term survival is possible even with comfort care approaches. Prenatal management includes third-trimester growth scans following high-risk NIPT results, despite low-risk amniocentesis. Family-centered counseling and support are emphasized to improve communication with families, moving away from outdated teaching that these diagnoses are uniformly lethal.
Sources
John Carey, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 20:51
Dan Swarr, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 22:15
Dan Swarr, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 23:45
Mallory Hoffman, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18 29:06
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Expert statements from the recordings in this collection.
Introduction - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
Trisomy 13 and 18 present unique challenges and require multidisciplinary and individualized approaches to provide the best possible outcomes for patients and families.
opinionLeandra Tousso0:00 ↗
Laura Glaganski, MD & Jagroop (Rupi) Parikh - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
23% of patients with trisomy 13 and 18% of patients with trisomy 18 underwent surgery in the Ontario longitudinal population study.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
41 children with trisomy 13 underwent 135 surgical procedures; 39% had one lifetime procedure, but 15 children had four or more lifetime procedures.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
35 children with trisomy 18 underwent 92 surgical procedures.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Median survival after first surgery was more than one year in all organ system categories except eye surgeries and cardiac surgeries in trisomy 18.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
In the Indiana retrospective study (1990–2020), 53% of 117 patients underwent a procedure, with median age of first procedure 65 days.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Higher birth weight and later gestational age were associated with lower surgical mortality in trisomy 13/18.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Patients with other chromosome 18 variants (including mosaicism) had lower surgical mortality.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
General surgical anomalies (including esophageal atresia) were associated with higher surgical mortality.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Neurologic procedures, ENT procedures, abdominal wall defects, genitourinary procedures, and endocrine comorbidities were not associated with increased surgical mortality.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
In the Cincinnati Children's bronchoscopy series (2011–2021), all patients with trisomy 13 had more than three significant airway findings, and most trisomy 18 patients had two or more significant findings.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
65% of trisomy 13/18 patients who underwent bronchoscopy at Cincinnati Children's required tracheostomy, and almost all required mechanical ventilation.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Previous studies showed a tracheostomy rate around 17% in trisomy 13/18, but the Cincinnati series found 65% in patients who underwent airway evaluation.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Tracheomalacia improves with time and growth, but severe malacia often requires tracheostomy and long-term mechanical ventilation.
clinicalLaura Glaganski0:00 ↗
In a pooled analysis of 70 trisomy 18 patients with hepatoblastoma, 64% had surgical treatment; tumors were more solitary, less multifocal, and smaller overall.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Only one-fifth of hepatoblastomas in trisomy 18 were identified through screening.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
The most common reasons patients with trisomy 18 and hepatoblastoma did not pursue surgery were severe cardiopulmonary comorbidities, advanced hepatoblastoma, and family decision.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Five-year survival for trisomy 18 patients with hepatoblastoma receiving multimodal treatment was 43.7%, compared to 76.6% in patients without trisomy 18.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Patients with trisomy 18 and hepatoblastoma have undergone liver transplant to provide curative treatment.
Host summaryLaura Glaganski summarizes what Dr. Jagroop (Rupi) Parikh said — not the host's own clinical position0:00 ↗
Trisomy 13/18 patients cannot be taken care of in an ambulatory surgery setting due to their comorbidities; they require inpatient care with multidisciplinary and subspecialty emergency care available.
clinicalJagroop (Rupi) Parikh14:13 ↗
Preoperatively, anesthesia requires recent EKG, echo, and cardiology visit; all patients come for an anesthesia consult ahead of time to avoid day-of-surgery cancellations.
clinicalJagroop (Rupi) Parikh14:13 ↗
Mask ventilation in trisomy 13/18 patients was found to be nearly 30-fold higher in difficulty compared to other patients of their age and weight.
Host summaryJagroop (Rupi) Parikh summarizes what Dr. Laura Glaganski said — not the host's own clinical position14:13 ↗
Careful inductions are critical in trisomy 13/18 to avoid hypercarbia and pulmonary hypertension, which is very challenging to manage intraoperatively.
clinicalJagroop (Rupi) Parikh14:13 ↗
Postoperatively, managing opioids is important to prevent hypoxia and hypercarbia in patients with central and obstructive sleep apnea.
clinicalJagroop (Rupi) Parikh14:13 ↗
Opioid-free anesthetics using adjuvants (IV Tylenol, Toradol) and regional anesthesia (caudal, nerve blocks) can eliminate postoperative apnea risk.
clinicalJagroop (Rupi) Parikh14:13 ↗
Elective surgeries like G-tube placement can be delayed following planned cardiac repair to avoid anesthetic risk.
clinicalLaura Glaganski14:13 ↗
The preference is for G-tubes over GJ-tubes due to risk of perforation with GJ-tubes; a 5 kg weight cutoff is used at this institution.
clinicalLaura Glaganski14:13 ↗
For low birth weight children needing post-pyloric feeding, a fluoroscopic nasojejunal tube can be placed to allow growth before GJ-tube placement.
clinicalLaura Glaganski14:13 ↗
Natasha Henner, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
The majority of infants with trisomy 13/18 still die within the first year of life, influenced by patient phenotype, parental choice, and local institutional practices.
epidemiologicalNatasha Henner4:00 ↗
There are higher rates of live-born infants with trisomy 13/18, and birth by C-section accounts for about 60 to 70% of all cases.
epidemiologicalNatasha Henner4:20 ↗
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