Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review (Preprint) DOI
Mega O. Oyovwi, Ohwin Peggy Ejiro, Rume A. Rotu

et al.

Published: March 15, 2024

BACKGROUND Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling mostly used, which carry a risk of miscarriage. This has led the need for noninvasive innovative approach detect prevent chromosomal during pregnancy. OBJECTIVE review aims describe appraise potential internet-based abnormal preventive measures detecting preventing METHODS A thorough existing literature research on approaches prenatal diagnosis therapy was conducted. Electronic databases PubMed, Google Scholar, ScienceDirect, CENTRAL, CINAHL, Embase, OVID MEDLINE, PsycINFO, Scopus, ACM, IEEE Xplore were searched relevant studies articles published in last 5 years. The keywords used included <i>chromosomal abnormalities</i>, <i>prenatal diagnosis</i>, <i>noninvasive</i>, <i>internet-based</i>, <i>diagnosis</i>. RESULTS revealed that is involves use advanced technology, including high-resolution ultrasound, cell-free DNA testing, bioinformatics, analyze fetal from maternal blood samples. It allows early detection abnormalities, enabling timely interventions treatment adverse outcomes. Furthermore, with advancement emerged safe alternative benefits its cost-effectiveness, increased accessibility convenience, earlier intervention, ethical considerations. CONCLUSIONS Internet-based revolutionize care offering procedures. improve better pregnancy outcomes reduced Further development this field needed make more accessible affordable pregnant women.

Language: Английский

Analysis of Public Perceptions on the use of Artificial Intelligence in Genomic Medicine DOI

Jack E. Harrison,

Fiona Lynch, Zornitza Stark

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: July 12, 2024

Abstract Purpose Next generation sequencing (NGS) has led to the creation of large pools genomic data with analysis rather than now limiting factor. Artificial intelligence (AI) may be required optimize benefits these data, but little is known about how public feels use AI in genomics. Methods We conducted focus groups members Australian public. Participants were recruited via social media advertisements. explored potential uses medicine, benefits, risks, and possible implications its use. Results (n = 34) largely felt comfortable analysing their own generally agreed benefits. Concerns raised over security, for misdiagnosis, bias perpetuate. Many participants wanted checking mechanisms when results generated using AI. Conclusions The insights gained from discussions help understand concerns around medicine. Our findings can inform both policies educate on

Language: Английский

Citations

0
Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome DOI

Emily Waskow,

Lisa Emrick, Jill A. Rosenfeld

et al.

American Journal of Medical Genetics Part A, Journal Year: 2024, Volume and Issue: 197(1)

Published: Aug. 21, 2024

Abstract Fine–Lubinsky syndrome is a rare clinically defined sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide clinical molecular update for sibling pair diagnosed with An extensive genetic work‐up, including chromosomal microarray analysis quad exome sequencing, was nondiagnostic. However, research reanalysis of their sequencing data revealed that both were homozygous an intronic c.749+39G>A [NM_001383.6] variant in DPH1 . RNAseq performed on RNA from fibroblasts significantly reduced expression transcripts suggestive abnormal splicing followed by nonsense mediated mRNA decay. Since the phenotypes this consistent those associated inheritance biallelic pathogenic variants , they given diagnosis developmental delay short stature, dysmorphic facial features, sparse hair 1 (DEDSSH1). This leads us recommend all individuals be screened The histories emphasize hearing loss DEDSSH1 may remit over time should monitored cardiomyopathy. case also demonstrates utility means functionally validating effects affect splicing.

Language: Английский

Citations

0
Artificial Intelligence Applications in Genomics DOI

Radha Nagarajan,

Chen Wang,

D. Walton

et al.

Advances in Molecular Pathology, Journal Year: 2024, Volume and Issue: 7(1), P. 145 - 154

Published: Sept. 30, 2024

Language: Английский

Citations

0
Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review DOI Creative Commons
Mega O. Oyovwi, Ohwin Peggy Ejiro, Rume A. Rotu

et al.

JMIR Bioinformatics and Biotechnology, Journal Year: 2024, Volume and Issue: 5, P. e58439 - e58439

Published: Oct. 16, 2024

Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling mostly used, which carry a risk of miscarriage. This has led the need for noninvasive innovative approach detect prevent chromosomal during pregnancy.

Language: Английский

Citations

0
Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review (Preprint) DOI
Mega O. Oyovwi, Ohwin Peggy Ejiro, Rume A. Rotu

et al.

Published: March 15, 2024

BACKGROUND Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling mostly used, which carry a risk of miscarriage. This has led the need for noninvasive innovative approach detect prevent chromosomal during pregnancy. OBJECTIVE review aims describe appraise potential internet-based abnormal preventive measures detecting preventing METHODS A thorough existing literature research on approaches prenatal diagnosis therapy was conducted. Electronic databases PubMed, Google Scholar, ScienceDirect, CENTRAL, CINAHL, Embase, OVID MEDLINE, PsycINFO, Scopus, ACM, IEEE Xplore were searched relevant studies articles published in last 5 years. The keywords used included <i>chromosomal abnormalities</i>, <i>prenatal diagnosis</i>, <i>noninvasive</i>, <i>internet-based</i>, <i>diagnosis</i>. RESULTS revealed that is involves use advanced technology, including high-resolution ultrasound, cell-free DNA testing, bioinformatics, analyze fetal from maternal blood samples. It allows early detection abnormalities, enabling timely interventions treatment adverse outcomes. Furthermore, with advancement emerged safe alternative benefits its cost-effectiveness, increased accessibility convenience, earlier intervention, ethical considerations. CONCLUSIONS Internet-based revolutionize care offering procedures. improve better pregnancy outcomes reduced Further development this field needed make more accessible affordable pregnant women.

Language: Английский

Citations

0