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Noninvasive Prenatal Diagnosis: Challenges and Solutions

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Special Issue Editor

Dr. Przemyslaw Kosinski

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Guest Editor

Department of Obstetrics, Perinatology and Gynecology, Medical University of Warsaw, 03-242 Warsaw, Poland
Interests: prenatal diagnostics; screening; chromosomal abnormalities; ultrasound; cell-free DNA testing

Special Issue Information

Dear Colleagues,

As a result of the wide availability of ultrasound scans and non-invasive prenatal testing methods, there are various combinations of screening methods in different groups of patients and a number of new possible diagnoses or reports on rare diseases. As a result, a constantly growing number of difficulties arise when counseling patients in complex cases.

The goals of the proposed Special Issue are to increase our awareness and understanding regarding challenges in ultrasound, non-invasive testing and prenatal screening for congenital and genetic anomalies.

Areas of particular interest include:

* genetic causes of anatomical defects;
* intrauterine growth restriction (IUGR);
* complications of monochorionic twins;
* prenatal manifestation and genetic assessment of rare multiple malformations syndromes;
* new ultrasound markers for chromosomal and anatomical disorders.

We welcome original research, reviews, case Reports and articles covering all aspects of prenatal manifestation and genetic diagnostics of congenital anomalies/developmental delay disorders:

- Genetic background;
- Confirmatory diagnostics procedures;
- Pathological mechanisms;
- Key clinical features;
- Prenatal treatment options;
- Follow-up and postnatal recommendations.

Dr. Przemyslaw Kosinski
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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

prenatal diagnostics
screening
chromosomal abnormalities
ultrasound
cell-free DNA testing
ultrasound
non-invasive testing
fetal abnormalities
fetal echocardiography

Published Papers (2 papers)

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Research

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10 pages, 258 KiB

Open AccessArticle

Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis

by Yohan Guichoud, Oumama El Ezzi and Anthony de Buys Roessingh

Diagnostics 2023, 13(15), 2479; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13152479 - 26 Jul 2023

Cited by 2 | Viewed by 1034

Abstract

Precision of cleft lip and/or palate antenatal diagnosis plays a significant role in counselling, neonatal care, surgical strategies and psychological support of the family. This study aims to measure the accuracy of antenatal diagnosis in our institution and the detection rate of cleft lip and/or palate on routine morphologic ultrasonography. In this retrospective observational study, we compared antenatal and postnatal diagnosis of 233 patients followed in our unit. We classified our patients according to the Kernahan and Stark’s classification system: Group 1: facial cleft including labial and labio-maxillary clefts; Group 2: facial cleft including total, subtotal and submucous palatal clefts; Group 3: labio-maxillary-palatal clefts. Out of 233 patients, 104 were antenatally diagnosed with a facial cleft, i.e., an overall detection rate of 44.6%. The diagnosis was confirmed at birth in 65 of these patients, i.e., an overall accuracy of 62.5%. Of the 67 children (29.2%) in Group 1, the screening detection rate was 58.2% with an antenatal diagnostic accuracy of 48.7%. Of the 97 children (41.6%) in Group 2, the screening detection rate was 2% with an antenatal diagnostic accuracy of 50%. Of the 69 children (29.6%) in Group 3, the screening detection rate was 91.3% with an antenatal diagnostic accuracy of 71.4%. Our study demonstrates a relatively poor diagnostic accuracy in prenatal ultrasound, where the diagnosis was inaccurate in one third to one half of patients. It showed great variability in the screening detection rate depending on the diagnostic group observed, as well as a low rate of detection of palatal clefts. Full article

(This article belongs to the Special Issue Noninvasive Prenatal Diagnosis: Challenges and Solutions)

Other

Jump to: Research

13 pages, 587 KiB

Open AccessSystematic Review

Ultrasonographic Signs of Cytomegalovirus Infection in the Fetus—A Systematic Review of the Literature

by Magda Rybak-Krzyszkowska, Joanna Górecka, Hubert Huras, Magdalena Staśkiewicz, Adrianna Kondracka, Jakub Staniczek, Wojciech Górczewski, Dariusz Borowski, Mariusz Grzesiak, Waldemar Krzeszowski, Magdalena Massalska-Wolska and Renata Jaczyńska

Diagnostics 2023, 13(14), 2397; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13142397 - 18 Jul 2023

Cited by 2 | Viewed by 1534

Abstract

Background: congenital cytomegalovirus (cCMV) infection during pregnancy is a significant risk factor for fetal and neonatal morbidity and mortality. CMV detection is based on the traditional ultrasound (US) and MRI (magnetic resonance) approach. Methods: the present review used the PRISMA protocol for identification of studies associated with CMV infection and sonographic analysis. Various search terms were created using keywords which were used to identify references from Medline, Pubmed, PsycInfo, Scopus and Web of Science. Results: sonographic analysis of the cCMV infection identified several of the key features associated with fetuses. The presence of abnormal patterns of periventricular echogenicity, ventriculomegaly and intraparenchymal calcifications is indicative of CMV infection in the fetus. Hyperechogenic bowels were seen frequently. These results correlate well with MRI data, especially when targeted transvaginal fetal neurosonography was carried out. Conclusions: ultrasonography is a reliable indicator of fetal anomalies, due to cCMV. Fetal brain and organ changes are conclusive indications of infection, but many of the ultrasonographic signs of fetal abnormality could be due to any viral infections; thus, further research is needed to demarcate CMV infection from others, based on the ultrasonographic approach. CMV infection should always be an indication for targeted fetal neurosonography, optimally by the transvaginal approach. Full article

(This article belongs to the Special Issue Noninvasive Prenatal Diagnosis: Challenges and Solutions)

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