Evidence map›Paper›PMID 34193968›Full record

ArticlePediatric research2022

Birth defect co-occurrence patterns in the Texas Birth Defects Registry.

Renata H Benjamin, Angela E Scheuerle, Daryl A Scott, Maria Luisa Navarro Sanchez, Peter H Langlois, Mark A Canfield, Hope Northrup, Christian P Schaaf, Joseph W Ray, Scott D McLean and 4 more

Open access · greenAbstract read
In one paragraph

Article in Pediatric research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.3field-weighted citation impact, top 19% of its field
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

9 citing papers in PubMed, 12 citations in OpenAlex.

  1. Observational
  2. Article
  3. Article
  4. Article
  5. Birth Defects in Offspring of Adolescent and Young Adults with a History of Cancer: A Population-Based Study of 27,000 Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023
    Article
  6. Review
  7. Article
  8. Patterns of co-occurring birth defects in children with anotia and microtia.American journal of medical genetics. Part A · 2023
    Article
  9. Article
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

14 authors at 7 institutions in 2 countries.

Renata H BenjaminDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Angela E ScheuerleDepartment of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Maria Luisa Navarro SanchezDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Peter H LangloisBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Mark A CanfieldBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Christian P SchaafDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Joseph W RayDepartment of Pediatrics, Division of Medical Genetics and Metabolism, University of Texas Medical Branch, Galveston, TX, USA.
Scott D McLeanClinical Genetics Section, The Children's Hospital of San Antonio, San Antonio, TX, USA.
Han ChenDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Michael D SwartzDepartment of Biostatistics and Data Science, UTHealth School of Public Health, Houston, TX, USA.
Philip J Lupo *Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.
A J Agopian *Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA. a.j.agopian@uth.tmc.edu.
Baylor College of Medicine · USThe University of Texas Health Science Center at Houston · USUniversity of Texas Health Science Center at Dallas · USChildren's Hospital of San Antonio · USTexas Department of State Health Services · USThe University of Texas Medical Branch at Galveston · USThe University of Texas Southwestern Medical Center · US

Funding

A multidisciplinary approach for identifying and characterizing novel congenital malformation syndromesR01HD093660 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI AGOPIAN, A.J., LUPO, PHILIP · 2018 to 2022
$2.0M
NICHD NIH HHS R01 HD093660
6 · The paper itself

Abstract

backgroundThe population-level landscape of co-occurring birth defects among infants without a syndromic diagnosis is not well understood.

methodsWe analyzed data from 40,771 infants with two or more major birth defects in the Texas Birth Defects Registry (TBDR; 1999-2014). We calculated adjusted observed-to-expected (O/E) ratios for all two, three, four, and five-way combinations of 138 major defects.

resultsAmong 530 patterns with the highest adjusted O/E ratios (top 5% of 10,595 patterns), 66% included only defects co-occurring within one organ system and 28% were suggestive of known patterns (e.g., midline developmental defects). Of the remaining patterns, the combination of defects with the highest O/E ratio (193.8) encompassed the diaphragm, spine, spleen, and heart defects. Fourteen patterns involved heart and spine defects with or without rib defects. Ten additional patterns primarily involved two hallmark components of VACTERL association (specifically, vertebral defects, anal atresia, cardiac defects, renal, or limb defects, but not tracheoesophageal fistula).

conclusionsOur analyses provide a description of the birth defect co-occurrence patterns in a multi-ethnic, population-based sample, and revealed several patterns of interest. This work complements prior work that has suggested etiologic connections between select defects (e.g., diaphragmatic hernia and heart and spleen anomalies; heart and spine defects). IMPACT: In this large-scale, population-based study of birth defect co-occurrence patterns, we found several birth defect combinations of potential interest that warrant further investigation: congenital diaphragmatic hernia, heart, spine, and spleen defects and scimitar syndrome with vertebral defects. The majority of patterns of co-occurring defects observed more frequently than expected involved multiple defects within the same system and combinations suggestive of known associations. Nearly all of the top patterns (beyond the same system and those suggestive of known associations) involved organ systems that are components of the VACTERL association, with heart, spine, and rib defect patterns being the most common.

Indexed as

Heart Defects, CongenitalLimb Deformities, CongenitalAnal CanalEsophagusHumansInfantKidneyRegistriesSpineTexasTrachea

Identifiers

PMID34193968
PMCPMC8716666
OpenAlexW3173992088

What OpenQuestion holds

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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.