Prenatal Screening and Diagnostics

The paper analyzes single-cell RNA sequencing data from human embryos to quantify aneuploidy and mosaicism, finding widespread mosaic aneuploidies in 80% of embryos.

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

The paper evaluates how ultrasonography helps identify false-negative aneuploidy cases missed by noninvasive prenatal screening.

This study demonstrates a haplotype-based noninvasive prenatal diagnosis for Hemophilia A using cell-free fetal DNA, confirming results with amniocentesis.

This study validates a noninvasive prenatal diagnosis method for Duchenne Muscular Dystrophy using direct haplotype phasing from maternal DNA sequencing.

This paper introduces a high-throughput molecular counting method with single base-pair resolution for accurate single-gene NIPT, achieving high sensitivity and specificity in detecting genetic disorders.

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

This paper validates a non-invasive prenatal test for detecting monogenic autosomal recessive disorders using cfDNA sequencing and probabilistic modeling, achieving high sensitivity and specificity in clinical samples.

This study evaluates genome sequencing for prenatal diagnosis of fetuses with increased nuchal translucency, finding it doubles the diagnostic yield compared to standard methods.

This paper introduces a computational framework for targeted high-coverage sequencing-based NIPT, achieving high accuracy in detecting fetal trisomies and parental origin.

This study demonstrates the feasibility and accuracy of haplotype-based noninvasive prenatal diagnosis for Duchenne Muscular Dystrophy using targeted sequencing in a cohort of at-risk pregnancies.

This study uses NIPT data to determine population-specific allelic frequencies of small DNA variants at low cost, showing high reliability through in silico and wet lab validation.

The paper evaluates the impact of carrier rate thresholds on expanded carrier screening panels and finds that stricter thresholds reduce at-risk couple detection.

This paper develops a method to simultaneously analyze genomic and transcriptomic data from a single embryo biopsy to improve embryo selection in fertility treatments.

This study evaluates the clinical impact and cost-effectiveness of a 176-condition expanded carrier screen compared to minimal screening, finding it reduces affected births and is cost-effective.

This study improves non-invasive prenatal testing accuracy for 13-/18-/21-trisomy by using a support vector machine model trained on Z values and clinical features, achieving 100% accuracy and correcting false positives/negatives.

This study demonstrates that a handheld nanopore sequencer can rapidly perform preimplantation genetic screening with results comparable to traditional NGS.

This study demonstrates the feasibility of whole genome sequencing of fetal genomes from amniotic fluid, revealing additional genetic and clinical information beyond chromosomal abnormalities.

This paper develops a noninvasive prenatal diagnosis method using ddPCR to detect single-gene disorders from maternal plasma, successfully identifying affected pregnancies as early as week 11.

The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.

This study compares whole-genome sequencing and SNP methods for noninvasive prenatal screening at low fetal fractions, finding WGS detects more aneuploidies and avoids unnecessary invasive procedures.