Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
April 3, 2026Journal of Preventive Diagnostic and Treatment Strategies in MedicineOpen Access

Integrating Prenatal Genomics for Hemoglobinopathies: A Systematic Review of Cell-free DNA, Expanded Carrier Screening, and Preimplantation Genetic Testing-M

View Full Paper
Ask AI
Bookmark
Share

Authors

WAWiku AndonotopoTexas Tech UniversityMBMuhammad Adrianes BachnasSebelas Maret UniversityMPMochammad Besari Adi PramonoDr. Kariadi Hospital

Discussion

Loading...

Member takes

Implication

Systematic review integrates genomic tools for hemoglobinopathy screening and prevention in at-risk populations, suggesting pathways for improved care.

Key Points

  • This review aims to clarify how genomic technologies can be integrated into prenatal care for hemoglobinopathies.
  • Conducted a systematic review following PRISMA guidelines
  • Identified 1284 records, with 35 studies meeting inclusion criteria
  • Synthesized evidence from cfDNA assays, ECS, and PGT for α- and β-thalassemia
  • Evaluated methodological innovations and clinical validation studies.
  • Noninvasive genomic technologies showed high concordance for monogenic diagnosis.
  • ECS and PGT-M are increasingly feasible in low-resource settings.
  • Advanced platforms like long-read sequencing show promise but have limitations due to cost and complexity.

Cite This Study

Andonotopo et al. (2026) studied this question.

synapsesocial.com/papers/69cf5cd15a333a821460a5a4https://doi.org/10.4103/jpdtsm.jpdtsm_155_25
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease2024 · 4 citations
  2. 2The Role of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) in Hemoglobinopathy Management—Techniques, Accuracy, and the Balancing of Benefits and Drawbacks2025 · 2 citations
  3. 3Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 20222024 · 9 citations
  4. 4Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia2013 · 26 citations
  5. 5Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing2024 · 5 citations