【ACMG 2026 前沿速递03】守护生命起点：产前遗传学热点汇总

参考文献

Prenatal Screening (NIPS/cfDNA)

1.[P713] Genome-Wide cfDNA-Based Non-Invasive Prenatal Screening for Monogenic, Chromosomal and Sub-Chromosomal Disorders. Identif...

2.[P736] Performance Validation and Clinical Experience of a Comprehensive Prenatal cfDNA Screening. Fulgent Genetics.

3.[P745] Early Laboratory Performance with a Prenatal Screening Assay for simultaneous prenatal aneuploidy, recessive disease...

4.[P712] Identification of Suspected Bone Marrow Transplantation in Prenatal Cell-free DNA Screening Using SNP-Based Profiling. Natera.

5.[P743] Fetal Chimerism Identified Following SNP-Based Prenatal Cell-free DNA Screening. Natera.

Prenatal Diagnosis (Invasive/Sequencing) 

6.[P790] Use of Genome Sequencing in the Prenatal Diagnosis of RNU4atac-related Fetal Skeletal Dysplasias. Bon Secours. 

7.[P776] Integration of Short- and Long-Read Sequencing in the Prenatal Diagnosis of Fryns Syndrome. 

8.[P049] Prenatal Diagnosis of Hypophosphatasia and Long-Term Outcomes Following Early Neonatal Asfotase Alfa Treatment. Johns Hopkins University. 

9.[P694] Points to consider for precise testing and interpretation of prenatal mosaic aneuploidy... 

10.[P731] An Alignment Initiative for Prenatal Interpretation of Low-Penetrance ClinGen Recurrent Copy Number Variants. 

11.[P788] When Fetal Exome Misleads: The Critical Role of Geneticists in Prenatal Diagnosis.

Parental Health Implications 

12.[P732] Parental Health Implications Identified Through Prenatal Sequencing for Fetal Anomalies. UCSF. 

13.[P781] Identifying Undiagnosed, Medically Actionable Familial Disease with Prenatal Trio Exome Sequencing.

M-CN-00558

仅供研究使用，不得用于诊断。