Prenatal Screening and Diagnostics

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions

This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.

Accurate Fetal Variant Calling in the Presence of Maternal Cell Contamination

The paper presents methods to improve fetal variant calling accuracy in the presence of maternal cell contamination using Bayesian models and learned genotype-correction models.

Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism

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

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

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.

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

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

Noninvasive prenatal diagnosis for Hemophilia A by haplotype-based approach using cell-free fetal DNA in maternal plasma

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

Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing

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

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

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.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

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.

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

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.

Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis

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

Evaluation of five cell-free DNA isolation kits for plasma

The paper evaluates five cfDNA isolation kits for plasma, finding that all can isolate cfDNA with varying efficiency, with VZ kit achieving 90% efficiency comparable to QC.

Computational framework for targeted high-coverage sequencing based NIPT

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

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

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.

Non-invasive prenatal testing as a valuable source of population specific allelic frequencies

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.

A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels

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

Towards Improving Embryo Selection: Simultaneous Next Generation Sequencing Of DNA And RNA From A Single Trophectoderm Biopsy

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

Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen

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.

Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination

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.

Noninvasive prenatal detection of fetal trisomy and single gene disease by shotgun sequencing of placenta originated exosome DNA: a proof-of-concept validation

This study validates the use of exosomal DNA from maternal plasma for noninvasive prenatal detection of fetal trisomy and single gene disease.

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.

Creating basis for introducing NIPT in the Estonian public health setting

The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Rapid preimplantation genetic screening (PGS) using a handheld, nanopore-based, DNA sequencer

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

Innovative method for reducing uninformative calls in non-invasive prenatal testing

The paper introduces a method to reduce uninformative calls in NIPT by analyzing the length profile of circulating cell-free DNA, improving resolution of ambiguous results when combined with z-scores.

Advanced whole genome sequencing and analysis of fetal genomes from amniotic fluid

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

Nonivasive prenatal diagnosis of single-gene disorders using droplet digital PCR

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.

Single Molecule Sequencing of Cell-free DNA from Maternal Plasma for Noninvasive Trisomy Detection

This study uses single molecule sequencing of cell-free DNA from maternal plasma to detect trisomy 13, 18, and 21 with improved sensitivity and reduced GC bias compared to NGS.

Systematic Design and Comparison of Expanded Carrier Screening Panels

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