Prenatal Diagnosis: State of the Art and Future Directions

Dear Colleagues,

Prenatal diagnosis and prenatal screening have undergone rapid development in recent years. Fetal structural anomalies, which are detected by ultrasonography, are due to a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs), and single nucleotide variants (SNVs) in developmental genes. Depending on the severity and number of anomalies, fetuses with ultrasound abnormalities will have up to a 30% likelihood of an abnormal karyotype. The higher resolution of chromosomal microarray (CMA) provides an additional diagnostic yield of about 4–6% in fetuses with an ultrasound anomaly and normal karyotype. Therefore, more than half of fetuses with structural anomalies remain without a diagnosis.

In the recent years, several studies supported the utility of the NGS (Next Generation Sequencing) approach, essentially prenatal whole-exome sequencing (WES), in the genetic diagnosis of fetal structural anomalies in the first trimester of pregnancy, whereas the investigations above the 20th week of gestation are still limited. In parallel, non-invasive prenatal testing (NIPT) is rapidly becoming a first-tier screening test in clinical practice for detecting the most common autosomal (trisomy 13, 18, 21) and sex chromosomal aneuploidies, and its coverage is going to be expanded to identify microdeletions and microduplications.

To capture the advances in this exciting area of clinical genetics, Medical Sciences is pleased to announce a Special Issue on prenatal diagnosis, planned for publication in 2022.

Medical Sciences seeks original articles on different aspects of prenatal diagnosis. The purpose of this Special Issue is to summarize the state of the art in prenatal diagnosis with a focus on the diagnostic approaches (invasive and non-invasive) currently available to diagnose genetic conditions in prenatal settings. The journal will also consider paradigmatic single case or few case reports based on the use of the latest techniques in prenatal cytogenomics, expanding our knowledge of early human development and occurrence of genetic diseases during fetal development.

The topics of interest for this Special Issue include:

• prenatal exome and genome sequencing
• use of whole-exome and genome sequencing in fetuses with or without structural anomalies detected by ultrasonography
• discovery of novel prenatal phenotypes and prenatally lethal/developmental genes
• non-invasive prenatal test (NIPT)
• prenatal genetic counselling
• preimplantation genetic testing
• single-cell analysis of human embryos
• low-level mosaicisms detection by ultrasensitive sequencing methods
• fetal and parental incidental findings related to the implementation of NGS platforms in prenatal diagnosis
• implementation of bioinformatic pipelines for fetal CNV detection on WES data

Dr. Edoardo Errichiello
Dr. Elena Rossi
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medical Sciences is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• Prenatal diagnosis
• Prenatal cytogenomics
• Next Generation Sequencing (NGS)
• Preimplantation genetic testing (PGT)
• Noninvasive Prenatal Testing (NIPT)
• Novel “omics” approaches on prenatal liquid biopsy
• Ultrasound abnormalities
• Prenatal genetic counselling
• Fetal and parental incidental findings
• Lethal and developmental genes
• Mosaicism
• Single-cell genomics

• Prenatal Diagnosis: The State of the Art in Medical Sciences (2 articles)