Evidence map›Paper›PMID 41381659›Full record

ArticleScientific reports2025

Structural birth defects and leukemia risk in children with Down syndrome.

Ching-Ju Hsu, Jeremy M Schraw, Sonja A Rasmussen, Tiffany M Chambers, Tania A Desrosiers, Chad D Huff, Amanda E Janitz, Russell S Kirby, Eirini Nestoridi, Wendy N Nembhard and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Ching-Ju HsuDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Jeremy M SchrawDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Sonja A RasmussenDepartment of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Tiffany M ChambersDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Tania A DesrosiersDepartment of Epidemiology, Gillings School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Chad D HuffDepartment of Epidemiology at the University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Amanda E JanitzDepartment of Biostatistics and Epidemiology, Hudson College of Public Health, University of Oklahoma Health Sciences Center Campus, Oklahoma City, OK, USA.
Russell S KirbyChiles Center, College of Public Health, University of South Florida, Tampa, FL, USA.
Eirini NestoridiDivision for Family Health Data and Analytics, Massachusetts Department of Public Health, Boston, MA, USA.
Wendy N NembhardDepartment of Epidemiology, Fay W. Boozman College of Public Health and the and Winthrop P Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Jason L SalemiChiles Center, College of Public Health, University of South Florida, Tampa, FL, USA.
Charles ShumateBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Jean Paul TannerChiles Center, College of Public Health, University of South Florida, Tampa, FL, USA.
Mahsa M YazdyDivision for Family Health Data and Analytics, Massachusetts Department of Public Health, Boston, MA, USA.
Michael E ScheurerDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Karen R RabinDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Philip J LupoDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. plupo@emory.edu.

Funding

Down Syndrome Early Childhood Omics, Deep Phenotyping, and Epidemiology in Texas: DECODE IT CohortU01HD116485 · NICHD · EMORY UNIVERSITY · PI A.J. Agopian, Lisa M Jacola · 2024 to 2026
$4.7M
Molecular epidemiology of acute lymphoblastic leukemia in children with Down syndromeR01CA249867 · NCI · BAYLOR COLLEGE OF MEDICINE · PI LUPO, PHILIP, RABIN, KAREN R · 2020 to 2024
$4.2M
Chronic Health Conditions in Survivors of Down Syndrome-Associated LeukemiaR01CA263000 · NCI · BAYLOR COLLEGE OF MEDICINE · PI Maria Monica Gramatges, Lisa M Jacola · 2022 to 2026
$3.1M
Integrating Epidemiologic and Genomic Data to Elucidate the Genetic Overlap Between Congenital Anomalies and Pediatric CancerR01CA284531 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Chad Daniel Huff, Philip Lupo · 2023 to 2026
$1.9M
Kids Beating Cancer Emerging Scientist GrantNCI NIH HHS R01 CA249867NCI NIH HHS R01 CA263000NCI NIH HHS R01 CA284531NICHD NIH HHS U01 HD116485NIH HHS R01CA263000NIH HHS R01CA284531Rally Foundation Career Development Award
6 · The paper itself

Abstract

Birth defects are associated with increased cancer risk in the general pediatric population, yet their impact on leukemia risk in children with Down syndrome (DS) remains uncertain. We assessed this using data from 26,660 children with DS in the Genetic Overlap Between Anomalies and Cancer in Kids Registry Linkage Study. Among them, 71.9% had at least one major birth defect, predominantly involving the cardiac (64.2%), musculoskeletal (21%), and gastrointestinal systems (6.8%). The cumulative incidence of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) was comparable in children with and without co-occurring defects. Adjusted hazard ratios (aHR) for ALL and AML in children with versus without co-occurring major birth defects were 1.12 (95% confidence interval [CI]: 0.80-1.56) and 1.09 (95% CI: 0.76-1.58), respectively. Overall, no consistent patterns were seen between organ system-level defects and ALL. However, in terms of specific defects, we identified that anophthalmia/microphthalmia (aHR: 2.83, 95% CI: 1.16-6.92) was associated with ALL and tetralogy of Fallot (aHR: 2.40, 95% CI: 1.27-4.55) was associated with AML. While children with DS experience a higher prevalence of birth defects, these defects do not appear to strongly influence leukemia risk, unlike the elevated risk observed in the general pediatric population (< 18 years).

Indexed as

Congenital AbnormalitiesDown SyndromeLeukemia, Myeloid, AcutePrecursor Cell Lymphoblastic Leukemia-LymphomaAdolescentChildChild, PreschoolFemaleHumansIncidenceInfantInfant, NewbornMaleRegistriesRisk FactorsBirth defectsChildhood acute leukemiaDown syndromeEpidemiologyPopulation-based registry study

Identifiers

PMID41381659
PMCPMC12800112

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.