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

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

12 May 2024

Abstract excerpt

OBJECTIVE: This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples. METHODS: A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained....

Read the complete abstract on PubMed

Topics

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

Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38735835
DOI: 10.1002/pd.6585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetusesPMID 38735835Read ↗

Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?Semantic proximity Read ↗

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

Trio exome sequencing is highly relevant in prenatal diagnosticsSemantic proximity Read ↗

Lessons learnt from prenatal exome sequencingSemantic proximity Read ↗

Utility of trio‐based prenatal exome sequencing incorporating splice‐site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort studySemantic proximity Read ↗

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomaliesSemantic proximity Read ↗

Fetal exome sequencing: yield and limitations in a tertiary referral centerSemantic proximity Read ↗

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetusesSemantic proximity Read ↗

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderSemantic proximity Read ↗

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingSemantic proximity Read ↗

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolSemantic proximity Read ↗

Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) - four-year single center experience.Semantic proximity Read ↗

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