Research Topic

Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics

About this Research Topic

In the past decade, the clinical practice as well as research in the field of reproductive genetics has evolved rapidly, from the classic cytogenetics and Sanger-sequencing based technologies that had prevailed since 1980 to recent advances; prenatal diagnostic techniques have become less invasive, and the adoption of preimplantation genetic testing (PGT) has also improved, largely due to the advances of newer instrumentation and technology such as multiplex fluorescence in situ hybridization (mFISH), digital PCR, microfluidics, chromosome microarray, next generation sequencing (NGS), and the optimization of bioinformatics. Reproductive genetics has become an important pillar in this NGS-dominant era. However, on many occasions such paradigm shifts in the practice of reproductive genetics have been pushed forward initially by the demand of patients, which is often before reliable randomized controlled trials are available. The ability to sequence the entire fetal genome non-invasively from the maternal blood in a timely, efficient, and affordable way has long been sought and is considered the “Holy Grail” of prenatal diagnosis.

Meanwhile, the attitudes of clinical practitioners are also evolving. It is now considered ethical by PGT-M (formerly known as preimplantation genetic diagnosis; “M” denotes monogenic diseases) to avoid the transmission of the monogenic inherited disorders from generation to generation; for PGT-A (formerly known as preimplantation genetic screening; “A” denotes aneuploidy) practitioners have divided opinions, wavering between full endorsement as a routine practice and total refusal. The rapid evolution of reproductive genetics also changed the practice and even training of subspecialties such as maternal fetal medicine (MFM) and in vitro fertilization (IVF) within the scope of obstetrics and gynecology.

Therefore, our purpose is to bring together both the latest research and the concise reviews on this rapidly evolving field to allow reports of novel technologies that may become future trends, comparisons of the utilities of different instrumentations, clinical perspectives and results of clinical trials, and meaningful case studies that may bring novel insights of the diagnosis of human inherited disorders. These will serve to enhance the crosstalk between clinicians and laboratory scientists and to provide a platform for presenting the development of a diagnostic modality from bench to bedside in a multi-disciplinary approach. We welcome all article types (Brief Research Report, Case Report, Clinical Trial, Correction, Data Report, Editorial, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Review, Specialty Grand Challenge, Study Protocol, Systematic Review, and Technology and Code) on the following topics of interest (the list is not exhaustive):

• Preimplantation genetic testing (PGT): PGT-A and/or PGT-M
• Non-invasive prenatal testing (NIPT): cell-free DNA or cell-based
• Chromosome microarray
• Whole exome sequencing (WES) and whole genome sequencing (WGS): prenatal and/or postnatal, contributing to a better diagnosis of human inherited disorders, syndromes, and phenotypic spectrums.
• Imprinting disorders and assays developed to diagnose aberrant methylations that causing human diseases
• Novel technical breakthrough
• Opinions/Perspectives/Research relating to discussion of paradigm shifts in reproductive genetics changing the landscape of clinical practice

Topic Editors Mark Evans and Ming Chen hold patents related to reproductive genetics. All other Topic Editors declare no competing interests with regard to the Research Topic subject.


Keywords: Non-invasive prenatal testing, whole exome sequencing, preimplantation genetic testing, next generation sequencing, cytogenetics


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

In the past decade, the clinical practice as well as research in the field of reproductive genetics has evolved rapidly, from the classic cytogenetics and Sanger-sequencing based technologies that had prevailed since 1980 to recent advances; prenatal diagnostic techniques have become less invasive, and the adoption of preimplantation genetic testing (PGT) has also improved, largely due to the advances of newer instrumentation and technology such as multiplex fluorescence in situ hybridization (mFISH), digital PCR, microfluidics, chromosome microarray, next generation sequencing (NGS), and the optimization of bioinformatics. Reproductive genetics has become an important pillar in this NGS-dominant era. However, on many occasions such paradigm shifts in the practice of reproductive genetics have been pushed forward initially by the demand of patients, which is often before reliable randomized controlled trials are available. The ability to sequence the entire fetal genome non-invasively from the maternal blood in a timely, efficient, and affordable way has long been sought and is considered the “Holy Grail” of prenatal diagnosis.

Meanwhile, the attitudes of clinical practitioners are also evolving. It is now considered ethical by PGT-M (formerly known as preimplantation genetic diagnosis; “M” denotes monogenic diseases) to avoid the transmission of the monogenic inherited disorders from generation to generation; for PGT-A (formerly known as preimplantation genetic screening; “A” denotes aneuploidy) practitioners have divided opinions, wavering between full endorsement as a routine practice and total refusal. The rapid evolution of reproductive genetics also changed the practice and even training of subspecialties such as maternal fetal medicine (MFM) and in vitro fertilization (IVF) within the scope of obstetrics and gynecology.

Therefore, our purpose is to bring together both the latest research and the concise reviews on this rapidly evolving field to allow reports of novel technologies that may become future trends, comparisons of the utilities of different instrumentations, clinical perspectives and results of clinical trials, and meaningful case studies that may bring novel insights of the diagnosis of human inherited disorders. These will serve to enhance the crosstalk between clinicians and laboratory scientists and to provide a platform for presenting the development of a diagnostic modality from bench to bedside in a multi-disciplinary approach. We welcome all article types (Brief Research Report, Case Report, Clinical Trial, Correction, Data Report, Editorial, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Review, Specialty Grand Challenge, Study Protocol, Systematic Review, and Technology and Code) on the following topics of interest (the list is not exhaustive):

• Preimplantation genetic testing (PGT): PGT-A and/or PGT-M
• Non-invasive prenatal testing (NIPT): cell-free DNA or cell-based
• Chromosome microarray
• Whole exome sequencing (WES) and whole genome sequencing (WGS): prenatal and/or postnatal, contributing to a better diagnosis of human inherited disorders, syndromes, and phenotypic spectrums.
• Imprinting disorders and assays developed to diagnose aberrant methylations that causing human diseases
• Novel technical breakthrough
• Opinions/Perspectives/Research relating to discussion of paradigm shifts in reproductive genetics changing the landscape of clinical practice

Topic Editors Mark Evans and Ming Chen hold patents related to reproductive genetics. All other Topic Editors declare no competing interests with regard to the Research Topic subject.


Keywords: Non-invasive prenatal testing, whole exome sequencing, preimplantation genetic testing, next generation sequencing, cytogenetics


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

28 September 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

28 September 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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