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

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.

Prenatal diagnosis - 1 Aug 2024

Kong Lingrong, Zhao Zhenhua, Fu Xinyu, Li Huanyun, Zhu Jingqi, Wu Di, Kong Xiangdong, Sun Luming

Abstract excerpt

OBJECTIVE: To establish a haplotype-based noninvasive prenatal testing (NIPT) workflow for single-gene recessive disorders that adapt to dizygotic (DZ) twin pregnancies. METHOD: Twin pregnancies at risk of Duchenne muscular dystrophy, Becker muscular dystrophy, hemophilia B, spinal muscular atrophy, phenylketonuria, and nonsyndromic hearing loss were recruited. For subsequent analysis, capture sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Recessive
Share to Genotype
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Share to Twins, Dizygotic

Share to Twins, Monozygotic

Source

Identifiers

PMID: 38647204
DOI: 10.1002/pd.6565

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.PMID 38647204Read ↗

Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disordersSemantic proximity Read ↗

Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.Semantic proximity Read ↗

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

Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms.Semantic proximity Read ↗

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

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Semantic proximity Read ↗

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.Semantic proximity Read ↗

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

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Semantic proximity Read ↗

cfDNA screening and diagnosis of monogenic disorders – where are we heading?Semantic proximity Read ↗

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

The Next Frontier in Noninvasive Prenatal Diagnostics: Cell-Free Fetal DNA Analysis for Monogenic Disease AssessmentSemantic proximity Read ↗

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