Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Teratogenicity01:07

Teratogenicity

3.3K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
3.3K
Probability Laws01:49

Probability Laws

42.5K
Overview
42.5K
Pedigree Analysis01:35

Pedigree Analysis

86.6K
Overview
86.6K
Prevalence and Incidence01:08

Prevalence and Incidence

1.0K
In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
1.0K
Sex-linked Disorders01:43

Sex-linked Disorders

104.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
104.5K
Genetic Lingo01:11

Genetic Lingo

108.6K
Overview
108.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Pregnancy and Neonatal Outcomes Following Prenatal Exposure to Dolutegravir: Findings From the Antiretroviral Pregnancy Registry.

Journal of acquired immune deficiency syndromes (1999)·2026
Same author

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

Research square·2026
Same author

Identifying Genes Associated with Obstructive Congenital Heart Defects Using a Family-Based Genetic Random Field Method: Results from the National Birth Defects Prevention Study.

HGG advances·2026
Same author

Adapting developmental science for a world of diverse families.

The Behavioral and brain sciences·2026
Same author

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

HGG advances·2026
Same author

Challenges and recommendations in establishing national human diversity genomic projects.

Nature methods·2026

Related Experiment Video

Updated: Oct 31, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

7.1K

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

Renata H Benjamin1, Angela E Scheuerle2, Daryl A Scott3,4

  • 1Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.

Pediatric Research
|July 1, 2021
PubMed
Summary

This study analyzed birth defect patterns in infants, finding that most co-occurring defects involved single organ systems or known associations. Some combinations, like diaphragm, spine, spleen, and heart defects, occurred more frequently than expected.

More Related Videos

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

11.9K
Guide Wire Assisted Catheterization and Colored Dye Injection for Vascular Mapping of Monochorionic Twin Placentas
09:04

Guide Wire Assisted Catheterization and Colored Dye Injection for Vascular Mapping of Monochorionic Twin Placentas

Published on: September 5, 2011

15.1K

Related Experiment Videos

Last Updated: Oct 31, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

7.1K
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

11.9K
Guide Wire Assisted Catheterization and Colored Dye Injection for Vascular Mapping of Monochorionic Twin Placentas
09:04

Guide Wire Assisted Catheterization and Colored Dye Injection for Vascular Mapping of Monochorionic Twin Placentas

Published on: September 5, 2011

15.1K

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Public Health

Background:

  • The landscape of co-occurring birth defects in infants without a syndromic diagnosis is not well understood.
  • Population-level data on these patterns are crucial for understanding underlying etiologies.

Purpose of the Study:

  • To identify and describe patterns of co-occurring major birth defects in a large, population-based cohort of infants without a syndromic diagnosis.
  • To investigate associations between specific birth defects beyond those within a single organ system.

Main Methods:

  • Analysis of data from 40,771 infants with at least two major birth defects from the Texas Birth Defects Registry (1999-2014).
  • Calculation of adjusted observed-to-expected (O/E) ratios for all combinations of 138 major defects.
  • Identification of the top 5% of co-occurring defect patterns based on adjusted O/E ratios.

Main Results:

  • Among the top 5% of patterns, 66% involved defects within a single organ system, and 28% suggested known associations (e.g., midline defects).
  • The highest O/E ratio was observed for a combination of diaphragm, spine, spleen, and heart defects.
  • Several patterns involved components of VACTERL association, particularly heart and spine defects, with or without rib defects.

Conclusions:

  • This study describes birth defect co-occurrence patterns in a multi-ethnic, population-based sample, revealing several novel patterns of interest.
  • Findings complement existing research suggesting etiologic links between specific defects, such as diaphragmatic hernia, heart, and spleen anomalies.
  • The identified patterns, particularly those involving multiple organ systems and VACTERL association components, warrant further investigation.