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Reprod. Med.
Special Issues
Screening for Fetal and Maternal Diseases Using Molecular Biochemical and...
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Screening for Fetal and Maternal Diseases Using Molecular Biochemical and Biophysical Markers

A special issue of Reproductive Medicine (ISSN 2673-3897).

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 11654

Special Issue Editor

Dr. Danila Morano

E-Mail Website
Guest Editor
Department of Medical Sciences, Section of Obstetrics and Gynecology, University of Ferrara, Ferrara, Italy
Interests: prenatal medicine; fetal echocardio; high risk proegnancies; labor and delivery

Special Issue Information

Dear Colleagues,

In the past 40 years, there has been a remarkable progression in the availability of tools and strategies for screening and diagnosis of fetal–maternal disorders. In this field, a major role was established for cell-free fetal DNA as well as for several other less known circulating nucleic acids in maternal plasma (CNAPS) such as mRNA, miRNA and other RNA species, which are currently investigated due to their potential usefulness in the screening of various fetal–maternal conditions. Moreover, new technologies are emerging and becoming available in the landscape of prenatal screening, such as the “trio” non-invasive whole exome sequencing (WES). Novel strategies and customized algorithms applied to biochemical markers, ultrasound, or combinations of both have recently been proposed and clinically implemented, improving the detection of high-risk pregnancies. Finally, different methods assessing maternal hemodynamics are under investigation for possible clinical application in screening, diagnosis, or personalized treatments of hypertensive disorders of pregnancy.

This Special Issue focuses on the latest research progress involving all aspects of screening in prenatal medicine, including development of new ideas, models, and techniques, as well as all advancements enhancing screening performance.

Dr. Danila Morano
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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. Reproductive Medicine 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 1000 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.

Keywords

  • circulating nucleic acids in maternal blood
  • placental markers
  • ultrasounds
  • multivariable analyses

Published Papers (2 papers)

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Review

13 pages, 1345 KiB  
Review
Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review
by Cristina Taliento, Noemi Salmeri, Pantaleo Greco and Danila Morano
Reprod. Med. 2022, 3(3), 222-234; https://doi.org/10.3390/reprodmed3030017 - 03 Aug 2022
Cited by 1 | Viewed by 7748
Abstract
Soft markers are sonographic structural, nonspecific signs with little pathological significance, often transient, usually considered as normal variants. However, they may also be associated with chromosomal abnormalities. The most widely examined soft markers include absent or hypoplastic nasal bone (NB), intracardiac echogenic focus [...] Read more.
Soft markers are sonographic structural, nonspecific signs with little pathological significance, often transient, usually considered as normal variants. However, they may also be associated with chromosomal abnormalities. The most widely examined soft markers include absent or hypoplastic nasal bone (NB), intracardiac echogenic focus (IEF), ventriculomegaly (VM), thickened nuchal fold (NF), choroid plexus cyst (CPC), echogenic bowel, short long bones, and urinary tract dilation (UTD). Although the use of noninvasive prenatal testing (NIPT) has been spreading quickly in maternal–fetal medicine, it is not a diagnostic test and it still remains unavailable or cost-prohibitive for most of the population in many countries. After normal screening test results in the first trimester, there is no uniform consensus regarding the clinical significance of isolated soft markers for aneuploidy. Nowadays, the search for soft markers in an ultrasound is still part of clinical evaluation, and the interpretation of these findings is often a matter of debate. In the present review, we summarize the recent literature about the role of soft markers in the era of NIPT and propose an overview of the different clinical guidelines. Full article
(This article belongs to the Special Issue Screening for Fetal and Maternal Diseases Using Molecular Biochemical and Biophysical Markers)
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21 pages, 384 KiB  
Review
Ultrasound Findings of Fetal Infections: Current Knowledge
by Rosita Verteramo, Erica Santi, Francesca Ravennati, Gennaro Scutiero, Pantaleo Greco and Danila Morano
Reprod. Med. 2022, 3(3), 201-221; https://doi.org/10.3390/reprodmed3030016 - 18 Jul 2022
Cited by 2 | Viewed by 3387
Abstract
Infectious diseases during pregnancy are still a major cause of fetal mortality and morbidity worldwide. The most common teratogenic pathogens are cytomegalovirus (CMV), varicella-zoster virus (VZV), rubeovirus, parvovirus B19, herpes simplex virus (HSV), Toxoplasma gondii, Treponema pallidum and the emergent Zika virus (ZIKV). [...] Read more.
Infectious diseases during pregnancy are still a major cause of fetal mortality and morbidity worldwide. The most common teratogenic pathogens are cytomegalovirus (CMV), varicella-zoster virus (VZV), rubeovirus, parvovirus B19, herpes simplex virus (HSV), Toxoplasma gondii, Treponema pallidum and the emergent Zika virus (ZIKV). Ultrasound findings include cerebral anomalies, orbital defects, micrognathia, cardiac defects, hepatosplenomegaly, liver calcifications, abdominal anomalies, skin and limb anomalies, edema, placental and amniotic fluid anomalies and altered Doppler analyses. The classification of ultrasound markers of congenital infections by anatomical region is reported to guide differential diagnosis and prenatal care. Full article
(This article belongs to the Special Issue Screening for Fetal and Maternal Diseases Using Molecular Biochemical and Biophysical Markers)
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