Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

American journal of medical genetics. Part A - 1 May 2026

Gupta Shivangini, Kanago Dhanashree, Tilak Preetha, Reddy B Sirisha, Indla Gayatri, Gowda Mamatha, Asegaonkar Prashant, Sharda Sheetal, Arora Veronica, Purohit Priyangi, Yadav Karuna Mandal, Shah Nidhi, Shah Parth, Kotecha Udhaya

Abstract excerpt

The prognosis in Binder phenotype is influenced by underlying etiology and associated findings. Genetic testing till date has focused on chromosomal anomalies and targeted testing of genes like ARSL (previously ARSE). The aim of this study was to assess the utility of exome sequencing in fetuses with antenatal Binder phenotype and explore how its results influence parental reproductive decision-making. This...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Decision Making
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Testing

Share to Parents

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 41521578
DOI: 10.1002/ajmga.70047

Genes

ARSL
GNPTAB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.PMID 41521578Read ↗

The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomaliesSemantic proximity Read ↗

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy managementSemantic proximity Read ↗

Fetal phenotypes emerge as genetic technologies become robustSemantic proximity Read ↗

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective reviewSemantic proximity Read ↗

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetusesSemantic proximity Read ↗

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.Semantic proximity Read ↗

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetusesSemantic proximity Read ↗

Challenges in variant interpretation in prenatal exome sequencing.Semantic proximity Read ↗

Obstetrics and neonatal outcomes of binder phenotype with antenatal diagnosis: A case report and literature review.Semantic proximity Read ↗

Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype.Semantic proximity Read ↗

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studySemantic proximity Read ↗

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal servicesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.