Evidence map›Paper›PMID 33749998›Full record

ArticleAmerican journal of medical genetics. Part A2021

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Diego Diaz, Renata H Benjamin, Maria Luisa Navarro Sanchez, Laura E Mitchell, Peter H Langlois, Mark A Canfield, Han Chen, Angela E Scheuerle, Christian P Schaaf, Daryl A Scott and 7 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024
    Review
  4. Young adolescent with trisomy 13.BMJ case reports · 2022
    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

17 authors at 7 institutions in 2 countries.

Diego DiazDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Renata H BenjaminDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Maria Luisa Navarro SanchezDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Laura E MitchellDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Peter H LangloisBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
Mark A CanfieldBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.ORCID 0000-0001-8827-1881
Han ChenDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Angela E ScheuerleDepartment of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID 0000-0002-9025-3276
Christian P SchaafDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-1460-5169
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Joseph W RayDepartment of Pediatrics, Division of Medical Genetics and Metabolism, University of Texas Medical Branch, Galveston, Texas, USA.
Scott D McLeanClinical Genetics Section, The Children's Hospital of San Antonio, San Antonio, Texas, USA.
Michael D SwartzDepartment of Biostatistics and Data Science, UTHealth School of Public Health, Houston, Texas, USA.
Katherine L LudorfDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Philip J LupoDepartment of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
A J AgopianDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.ORCID 0000-0002-5874-4155
University of Texas Health Science Center at Dallas · USBaylor College of Medicine · USTexas Department of State Health Services · USChildren's Hospital of San Antonio · USThe University of Texas Health Science Center at Houston · 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

Few population-based studies have analyzed patterns of co-occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co-occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999-2014. We calculated the observed-to-expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non-specifically. To address potential ascertainment differences among live births and non-live births, we repeated analyses specifically among live births. The combination of defects with the largest observed-to-expected ratio was microcephalus, reduction deformities of brain (e.g., holoprosencephaly), anomalies of nose, and polydactyly. As expected, most of the highest 30 observed-to-expected ratios involved combinations with documented features of trisomy 13, including defects of the scalp (e.g., aplasia cutis) and heart. Results were similar among sensitivity analyses restricted to live births. Our findings may help further delineate the phenotypic spectrum for trisomy 13 and may inform future research related to improving screening and counseling for the condition.

Indexed as

Abnormalities, MultipleAdolescentAdultBrainChildChild, PreschoolCongenital AbnormalitiesFemaleGenetic CounselingHeart Defects, CongenitalHoloprosencephalyHumansInfantInfant, NewbornLive BirthMale

Identifiers

PMID33749998
PMCPMC8193718
OpenAlexW3139038362

What OpenQuestion holds

Textmetadata
LicenceTDM
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.