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

A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies

25 Feb 2020

Abstract excerpt

Sickle cell disease (SCD) is the most common genetic haematological disorder. The availability of non-invasive prenatal diagnosis (NIPD) is predicted to increase uptake of prenatal diagnosis for SCD, as it has no perceived procedure-related miscarriage risk. We report the development of a targeted massively parallel sequencing (MPS) assay for the NIPD of fetal SCD using fetal cell-free (cf)DNA from maternal...

Read the complete abstract on PubMed

Topics

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

Share to Hemoglobinopathies and Related Disorders
Share to Parvovirus B19 Infection Studies
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32097993
DOI: 10.1111/bjh.16529

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnanciesPMID 32097993Read ↗

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disordersSemantic proximity Read ↗

Validation of single‐gene noninvasive prenatal testing for sickle cell diseaseSemantic proximity Read ↗

Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches.Semantic proximity Read ↗

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.Semantic proximity Read ↗

Application of an optimized non-invasive prenatal testing for thalassemia based on change of haplotype doses.Semantic proximity Read ↗

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.Semantic proximity Read ↗

Non-invasive prenatal testing of pregnancies at risk for phenylketonuriaSemantic proximity Read ↗

Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing.Semantic proximity Read ↗

Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia.Semantic proximity Read ↗

Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss.Semantic proximity Read ↗

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemiaSemantic proximity Read ↗

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions.Semantic proximity Read ↗

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