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Trisomy 13
Everything in the library about trisomy 13 — built automatically from the recorded discussions that name it
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
Fundamentals
1 item
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
Diagnosis & Workup
1 item
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
Medical Management
1 item
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
Surgical Management
1 item
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
Evidence & Research
1 item
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
In-Depth Reviews
1 item
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
Patient & Family Education
1 item
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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Every expert statement below comes from the recorded discussions, with its speaker and moment.
John Carey, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18
Tomiki Kosho published a 2006 paper in American Journal of Medical Genetics where he offered 24 families in Japan full intervention for trisomy 18 (though only ductus ligation was available), all 24 chose full intervention, 22/24 survived first week, and 6/24 survived first year.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position5:20 ↗
In a 2008 Pediatrics paper, McGraw and Perlman polled New York neonatologists with a case where over half indicated they would not resuscitate a baby with trisomy 18 and VSD in the delivery room.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position6:20 ↗
A 2016 American Journal of Medical Genetics survey of neonatologists showed 60% said active treatment of fetus/newborn with trisomy 18 is futile, 45% said trisomy 18 is incompatible with life, and over 50% said infant should not be resuscitated.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position9:40 ↗
In the TRIE study polling of neonatologists representing over 40 NICUs, almost 70% felt trisomy 13/18 are compatible with life and providing interventions prolonged survival, but about a third felt children could not live a meaningful life.
epidemiologicalJohn Carey10:40 ↗
Janvier's paper in Pediatrics polling social networks found over 400 families recognized challenges but saw joy and felt there was good quality of life in children with trisomy 13/18.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position15:00 ↗
Population studies as of 2014 showed about 50% or higher of children with trisomy 13/18 died in first week of life, and one-year survival ranged from 0-2%, averaging about 5% (1 in 20 surviving first year).
Host summaryJohn Carey summarizing a resource — not the host's own clinical position18:20 ↗
Meyer's multi-state study showed 1-year survival of 13% for trisomy 18 and 11% for trisomy 13, a marked contrast to earlier population studies.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position19:20 ↗
The Journal of Pediatrics study by Cortezo, Leandra, and Dan Swar (population retrospective cohort) demonstrated that intervention does increase survival in trisomy 13/18.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position20:00 ↗
Ben Wilfond's 2019 paper in Hastings proposed a bioethical standard based on the moral value of the caring relationship between parent and child as an organizing principle for decision-making.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position21:40 ↗
Kosho's American Journal of Medical Genetics paper appendix contains more than 50 paragraphs or sentences about parents and their perspectives on caring for children with trisomy 13/18.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position24:10 ↗
Carey and colleagues polled 46 families of children with trisomy 18 at a SOFT conference about their stories and published findings in American Journal of Medical Genetics.
epidemiologicalJohn Carey24:50 ↗
The AATS (American Association of Thoracic Surgeons) recommendations state that decisions should not be based solely on presence of trisomy 13/18, but instead made case-by-case considering severity of heart disease and presence of other anomalies.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position22:40 ↗
In a previous study only about a third of cardiologists discussed cardiac surgery prenatally for trisomy 13/18, but in Kosov's recent study over 60% did (compared to almost 100% for trisomy 21).
Host summaryJohn Carey summarizing a resource — not the host's own clinical position25:30 ↗
SOFT has a surgery registry with hundreds of children recorded who have had various surgeries, including 201 families with cardiac surgery for trisomy 18 and almost 40 for trisomy 13, most performed in last 12 years.
epidemiologicalJohn Carey26:20 ↗
In a study polling families with trisomy 13 from a Facebook database, 3 individuals walked unassisted, usually after age 6.
clinicalJohn Carey27:10 ↗
The TRIE study is a prospective longitudinal multi-NICU study investigating survival outcomes in trisomy 13/18, obtaining parent perspective through qualitative research, examining NICU experience and first year of life.
clinicalJohn Carey28:56 ↗
The TRIE study has 20 centers committed to participate (all but 2 from neonatal Research Network), which would represent 20% of all live births with trisomy 13/18 in America, including those choosing comfort care or intervention.
epidemiologicalJohn Carey30:00 ↗
Current data show 6-19% of children with trisomy 13/18 survive the first year, and intensive intervention including cardiac surgery improves one-year survival. Greater than 5-year survival is greater than 10% of those born.
Host summaryJohn Carey summarizing a resource — not the host's own clinical position27:50 ↗
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 ↗
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