Progress and Challenges in Laboratory-Based Diagnostic and Screening Approaches for Aneuploidy Detection during Pregnancy

Schneider, Lindsay; Tripathi, Anubhav

doi:10.1177/24726303211021787

Cited by 1 publication

(1 citation statement)

References 124 publications

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“…Aneuploidy in early embryos often leads to miscarriage or genetic disorders of fetus. Several screening and diagnostic technologies such as CGH and SNP arrays have been developed to detect aneuploidy but the resolution is relatively limited 28 . The aneuploidy could be determined using MALBAC due to its high genome coverage and uniformity 29 .…”

Section: Resultsmentioning

confidence: 99%

Mapping crossover events of mouse meiotic recombination by restriction fragment ligation-based Refresh-seq

Wang,

Chen,

Gao

et al. 2024

Cell Discov

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Single-cell whole-genome sequencing methods have undergone great improvements over the past decade. However, allele dropout, which means the inability to detect both alleles simultaneously in an individual diploid cell, largely restricts the application of these methods particularly for medical applications. Here, we develop a new single-cell whole-genome sequencing method based on third-generation sequencing (TGS) platform named Refresh-seq (restriction fragment ligation-based genome amplification and TGS). It is based on restriction endonuclease cutting and ligation strategy in which two alleles in an individual cell can be cut into equal fragments and tend to be amplified simultaneously. As a new single-cell long-read genome sequencing method, Refresh-seq features much lower allele dropout rate compared with SMOOTH-seq. Furthermore, we apply Refresh-seq to 688 sperm cells and 272 female haploid cells (secondary polar bodies and parthenogenetic oocytes) from F1 hybrid mice. We acquire high-resolution genetic map of mouse meiosis recombination at low sequencing depth and reveal the sexual dimorphism in meiotic crossovers. We also phase the structure variations (deletions and insertions) in sperm cells and female haploid cells with high precision. Refresh-seq shows great performance in screening aneuploid sperm cells and oocytes due to the low allele dropout rate and has great potential for medical applications such as preimplantation genetic diagnosis.

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Section: Resultsmentioning

confidence: 99%