Related Experiment Video

Updated: Dec 29, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.4K

Concurrent hearing and genetic screening in a general newborn population

Ling Guo1, Jiale Xiang2, Lei Sun1

  • 1Jining Maternal and Child Health Care Service Center, Jining, 272000, China.

Human Genetics
|February 1, 2020
PubMed

Insights

Concurrent genetic screening significantly enhances newborn hearing screening, identifying infants with hereditary hearing loss and ototoxicity risks missed by standard tests. This approach improves early detection and informs personalized clinical management for affected families.

Area of Science:

  • Genetics
  • Audiology
  • Neonatal Care

Background:

  • Newborn hearing screening has limitations in detecting delayed-onset hearing loss and drug-induced ototoxicity.
  • Some severe to profound hearing loss cases are missed by current newborn screening protocols.
  • Aminoglycoside-antibiotic-induced ototoxicity poses a risk undetectable by standard hearing tests.

Purpose of the Study:

  • To evaluate the effectiveness of combining hearing and genetic screening in newborns.
  • To demonstrate the practical benefits of concurrent screening in the general population.
  • To identify infants at risk for hereditary hearing loss and ototoxicity.

Main Methods:

  • Conducted concurrent hearing and genetic screening for newborns between September 1, 2015, and January 31, 2018.
  • Analyzed data from 239,636 eligible infants with a median age of 19 months.
  • Identified prelingual hearing loss, positive/inconclusive genotypes, and genetic risks for ototoxicity.

Main Results:

  • Identified 548 infants (0.23%) with prelingual hearing loss.
  • Genetic screening detected 14 patients with positive hearing loss genotypes and 27 with inconclusive genotypes who passed hearing screens.
  • Identified 570 newborns (0.23%) and their families at risk for ototoxicity, missed by hearing screens.

Conclusions:

  • Genetic screening complements newborn hearing screening by enhancing detection of hereditary hearing loss and ototoxicity risks.
  • Enables genotype-based clinical management for infants and families identified with genetic predispositions.
  • Suggests further validation in diverse populations and cost-effectiveness analyses are needed.

More Related Videos

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.3K
FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.7K

Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
918
Gene-Environment Interactions01:20

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
986
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K