Prenatal Screening and Diagnostics

Early Prenatal Cell-Free DNA Methylation Landscape Informs Epigenetic Purification of the Circulating Fetal Genome

The paper develops an epigenetic enrichment method for fetal cfDNA using a first-trimester methylome reference, increasing fetal fraction from 5.1% to 28.4%.

Hepatitis B cell-free DNA in non-invasive prenatal testing as an early biomarker of viral infectivity

This study investigates HBV cell-free DNA as a biomarker for viral infectivity in prenatal testing, finding it correlates with high infectivity and reduced fetal fraction in early pregnancy.

Prioritizing embryos with lower homozygosity may reduce disease risk in children of related individuals undergoing preimplantation genetic testing

This paper proposes using embryo-level autozygosity as a biomarker to prioritize embryos with lower disease risk in preimplantation genetic testing for couples with consanguinity.

A machine learning approach to infer DNase1L3 activity from plasma cell-free DNA fragmentomics

The paper develops a machine learning method to infer DNase1L3 activity from cfDNA fragmentomics, identifying R206C homozygotes with high accuracy and detecting downstream effects of DNase1L3 impairment.

Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and -duplications

This study validates FF-enriched GW-NIPT for detecting 1 Mb CNVs with high performance across BMI groups and low failure rates.

TUPAD: A Tn5-Mediated, Pre-amplification/Adapter-Dimer-Free Platform for Ultra-Uniform, One-Step PGT Profiling with High Stability and Broad Compatibility

TUPAD is a new library preparation method for PGT that eliminates pre-amplification bias and improves CNV detection with high uniformity and reliability.

Trio exome sequencing as the stand-alone first-tier testing for prenatal diagnosis

This study shows that trio exome sequencing is effective as a standalone first-tier test for prenatal diagnosis, offering higher diagnostic yield and clinical impact compared to traditional methods.

Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian Cohort

This study evaluates low-pass whole genome sequencing for prenatal chromosomal abnormality detection in an Indian cohort, finding a 11.1% diagnostic yield with higher detection in first-trimester samples.

PGT-A Mosaicism Reporting Lacks Clinical Predictive Value: Evidence from a Multisite, Double-Blinded Study with Independent Validation Across 15,315 Single-Embryo Transfers

This study shows that reporting mosaicism in PGT-A based on intermediate copy number (ICN) does not improve clinical outcomes in embryo selection.

Low Pass Whole Genome sequencing - a cost-effective new technique for the identification of aneuploidies and copy number variations: a study of 1372 clinical samples in an Indian cohort

AI-Driven Fluorescence Peak Analysis for Chromosomal Aneuploidy Detection: A Python-Based Machine Learning Approach for Enhanced Accuracy and Efficiency

This paper develops an AI-driven method using XGBoost to detect chromosomal aneuploidy in amniotic fluid samples, achieving high accuracy and significantly reducing analysis time.

The Binary Cellular Biology of Human Growth II Calculating the Size of the Human Fetus from the Size of its Parts

The paper introduces a new method for estimating fetal weight using ultrasound measurements based on binary cellular analysis, showing improved performance over existing equations.

Cost-effective and Flexible Preimplantation Genetic Testing (PGT) Using Adaptive Sampling-based Targeted Nanopore Sequencing (ASTN-seq)

This study evaluates ASTN-seq for PGT, showing its effectiveness in identifying mutations and enabling haplotype analysis in clinical cases with incomplete pedigrees.

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases

This paper evaluates an expanded chromosomal microarray for prenatal diagnosis, showing higher detection rates for copy number variations and exonic deletions compared to karyotype analysis and low-depth genome sequencing.

Highly Accurate Non-Invasive Preimplantation Genetic Testing for Monogenic and Polygenic Diseases from Spent Medium

This paper presents a non-invasive preimplantation genetic testing method using spent embryo culture medium, achieving high accuracy for monogenic and polygenic disease detection without modifying IVF workflows.

Advancing precision care in pregnancy through an actionable fetal findings list

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

cfGWAS reveal genetic basis of cell-free DNA features

This study conducts the first GWAS on cell-free DNA (cfDNA) features in pregnant women, identifying 84 genetic loci and revealing causal relationships between hematological indicators and cfDNA biology.

Cell-Free DNA GWAS Reveals Importance of p.Arg206Cys in DNASE1L3 for Non-Invasive Testing

This study identifies a common variant in DNASE1L3 that significantly affects cfDNA properties and impacts the accuracy of non-invasive prenatal testing.

Concordance of whole-genome amplified embryonic DNA with the subsequently born child

This study demonstrates high concordance between whole-genome amplified embryonic DNA and the genome of the subsequently born child, validating PGT-WGS for detecting genetic variants and polygenic risk scores.

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

Explaining the counter-intuitive effectiveness of trophectoderm biopsy for PGT-A using computational modelling

The paper uses computational modeling to show that while biopsy results are poor predictors of individual embryo mosaicism, they can still be used to rank embryos for transfer in PGT-A.

Chromosomal copy number variations in miscarriages and the geneic counseling of recurrent pregnancy loss

This study analyzes copy number variations in miscarriage samples to identify genetic abnormalities and their association with recurrent pregnancy loss.

Validation study for noninvasive single-cell-based prenatal genetic testing

This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.

Identifying risk genes for embryo aneuploidy using ultra-low coverage whole-genome sequencing

The paper uses ulc-WGS data from PGT-A to identify a genetic locus associated with maternal meiotic aneuploidy risk and validates its function in mouse oocytes.

SHaploseek: A sequencing-only high-resolution implementation of comprehensive preimplantation genetic testing

SHaploseek is a sequencing-only method for comprehensive preimplantation genetic testing that achieves high concordance with existing methods and improves sensitivity in subtelomeric regions.

Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants

The paper identifies 138 genes and variants associated with prenatal lethality across ethnic groups, suggesting preconception screening could identify couples at risk for miscarriage.

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.

Whole-Genome Promoter Profiling of Plasma Cell-Free DNA Exhibits Predictive Value for Preterm Birth

The paper develops a classifier, PTerm, using whole-genome promoter profiling of plasma cell-free DNA to predict preterm birth with high accuracy across multiple validation cohorts.

Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening

The paper evaluates a comprehensive pan-ethnic carrier screening panel across 282 monogenic diseases in 397,540 patients, showing it identifies 10-times more at-risk carrier couples than a two-gene panel and provides cost savings.

Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos

This study analyzes aneuploidy in arrested IVF embryos and finds that meiotic and mitotic aneuploidies are strongly associated with developmental arrest.