Article

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemia

2021-09-05

Abstract excerpt

<h4>Background</h4> Sickle cell disease (SCD) and beta thalassemia (β-thalassemia) are among the most common and severe genetically inherited disorders in the world. Although the maternal carrier status of these beta hemoglobinopathies is screened as a part of routine prenatal care in the US, the paternal carrier status is usually unavailable. Under this current screening paradigm, identification of the majority o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f4cd8b89-c166-5143-99c9-966b46736902
DOI: 10.1101/2021.09.02.21262837

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemiaDOI 10.1101/2021.09.02.21262837Read

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

Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population settingSemantic proximity Read

Incremental Clinical Value of Single-Molecule Nanopore Sequencing in Thalassemia Testing: A Prospective, Double-blind, Multicenter StudySemantic proximity Read

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

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis.Semantic proximity Read

Prenatal and newborn screening for hemoglobinopathiesSemantic proximity Read

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditionsSemantic proximity Read

Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotypingSemantic proximity Read

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

Clinical experience with non‐invasive prenatal screening for single‐gene disordersSemantic proximity Read

A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPTSemantic proximity Read

Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.Semantic proximity Read