Research Topic

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

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Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic ...

Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling.

Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed.

With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT.

The goal of this Research Topic is to bring together cutting-edge original research articles as well as new methods, reviews, or case reports that try to address how molecular technologies can assist in the diagnosis and assessment of genetic disorders in the conceptus and parents. We hope that this series will gather the latest research in diagnosing and assessing prenatal genetic disorders.

Some areas will be given particular interest:
1. Comparison of different molecular technologies for diagnosing or assessing genetic disorders in the conceptus;
2. CMA for detecting chromosomal abnormalities;
3. NIPT for detecting micro-duplication/micro-deletion syndromes and genetic disorders;
4. WES/WGS for carrier screening for genetic disorders;
5. NGS for Pre-implantation screening (PGS) and diagnosis (PGD);
6. New methodologies: third generation sequencing, cell-based NIPT, digital PCR and so on.


Keywords: Prenatal chromosomal abnormalities, Single gene disorders, Molecular technologies, Prenatal screening/diagnosis, Carrier screening


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