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Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and...
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Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and Future Perspectives

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 August 2022) | Viewed by 8163

Special Issue Editor

Prof. Dr. Antonio Pizzuti

E-Mail Website
Guest Editor
Department of Experimental Medicine, “Sapienza” University of Rome, 00100 Rome, Italy
Interests: neurogenetics; CNS malformations; prenatal diagnosis

Special Issue Information

Dear Colleagues, 

Prenatal diagnosis is an ever-growing field with continuous innovation. Advances in morphological and molecular approaches provide valuable new tools, resulting in remarkable achievements, but also increasing difficulties in the interpretation and management of such findings.

The greatest advancement in prenatal screening is represented by the diffusion of Non-Invasive Prenatal Testing (NIPT). The study of cell-free fetal DNA is a reliable tool to classify pregnancies as either high- or low-risk for aneuploidies when no indication of invasive analyses is present. Its role in other contexts is still debated, but new fields are being explored. Non-Invasive-Prenatal Diagnosis (NIPD) is emerging as a diagnostic alternative to invasive testing in some monogenic conditions with known underlying cause.

Any molecular testing has to be integrated with morphological data, and both ultrasound (US) and magnetic resonance imaging (MRI) continue to offer new options. Targeted US scans are performed earlier in pregnancies with great results. Fetal MRI allows for an unprecedented high-resolution visualization of fetal intracranial anatomy and possibly function, permitting an earlier definition of encephalic anomalies and syndromic malformation patterns. MRI/US fusion techniques are also being explored.

Invasive genetic testing, either for morphological anomalies or anamnestic indications, has undergone radical changes. Molecular cytogenetics is a staple in prenatal diagnosis, and the recent availability of broad cohorts can offer precious insights and prompts to fetal medicine specialists. The advent of Next Generation Sequencing (NGS) made timely prenatal molecular diagnoses possible for varied indications, with different approaches available, such as targeted panels, exome sequencing or even genome sequencing. The diagnostic yield is encouragingly high, but specific indications of each approach, as well as the management of incidental and uncertain findings, are yet to be defined.

This Special Issue aims to collect and integrate advancements in morphological and molecular prenatal diagnosis, depicting the state-of-the-art and future perspectives in European practice.

Prof. Dr. Antonio Pizzuti
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 diagnosis
  • fetal ultrasound (US)
  • fetal magnetic resonance imaging (MRI)
  • chromosomal microarray analysis
  • next generation sequencing
  • exome sequencing
  • genome sequencing
  • non-invasive prenatal screening
  • non-invasive prenatal diagnosis

Published Papers (4 papers)

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8 pages, 8880 KiB  
Hypothesis
Absence of a Hernia Sack in Patients Undergoing Prenatal Repair of Spina Bifida Increases the Risk of Developing Shunt-Dependent Hydrocephalus
by Agnieszka Pastuszka, Tomasz Koszutski, Ewa Horzelska, Sylwia Marciniak, Mateusz Zamłyński and Anita Olejek
Diagnostics 2023, 13(3), 343; https://doi.org/10.3390/diagnostics13030343 - 17 Jan 2023
Viewed by 951
Abstract
Spina bifida aperta (SBA), with (myelomeningocele) or without (myeloschisis) a hernia sack, is the most common congenital defect of the central nervous system. Prenatal surgical closure of SBA lowers the risk for developing shunt-dependent hydrocephalus, which offers a chance at improved motor, urinary, [...] Read more.
Spina bifida aperta (SBA), with (myelomeningocele) or without (myeloschisis) a hernia sack, is the most common congenital defect of the central nervous system. Prenatal surgical closure of SBA lowers the risk for developing shunt-dependent hydrocephalus, which offers a chance at improved motor, urinary, and gastrointestinal function. A total of 96 patients who had undergone open surgery prenatal repair for SBA were analyzed. The patients were divided into two groups: Group I—12 patients (12.5%)—without a hernia sack (myeloschisis) and Group II—84 patients (87.5%)—with a hernia sack (myelomeningocele). In this study, we demonstrated that prenatal SBA repair was statistically significantly less often associated with the need for ventriculoperitoneal shunting (p > 0.00001). The shunting was statistically significantly more often required in patients from Group I (p > 0.004). The absence of a hernia sack increases the risk for developing shunt-dependent hydrocephalus in patients after prenatal SBA repair. However, as prenatal SBA repair is associated with better motor, urinary, and gastrointestinal function, increased risk of developing shunt-dependent hydrocephalus in fetuses without a hernia sack should not be treated as a contraindication to prenatal intervention. Full article
(This article belongs to the Special Issue Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and Future Perspectives)
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32 pages, 810 KiB  
Systematic Review
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
by Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca and Antonio Pizzuti
Diagnostics 2023, 13(1), 48; https://doi.org/10.3390/diagnostics13010048 - 23 Dec 2022
Cited by 6 | Viewed by 2762
Abstract
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray [...] Read more.
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel. We performed a systematic review of the literature and meta-analysis, to calculate diagnostic yields of genetic testing in fetuses with iNT and cystic hygroma. We compared the results with a cohort of 96 fetuses with these isolated findings. Fetuses with isolated NT ≥ 2.5 mm showed karyotype anomalies in 22.76% of cases and CMA presented an incremental detection rate of 2.35%. Fetuses with isolated NT ≥ 3 mm presented aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. When the isolated NT measured at least 3.5 mm the diagnostic yield of karyotyping was 34.35%, the incremental CMA detection rate was 4.1%, the incremental diagnostic rate of the RASopathy panel was 1.44% and it was 2.44% for exome sequencing. Interestingly, CMA presents a considerable diagnostic yield in the group of fetuses with NT ≥ 3.5 mm. Similarly, exome sequencing appears to show promising results and could be considered after a negative CMA result. Full article
(This article belongs to the Special Issue Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and Future Perspectives)
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10 pages, 1963 KiB  
Case Report
Fetoscopic Myelomeningocele Repair with Complete Release of the Tethered Spinal Cord Using a Three-Port Technique: Twelve-Month Follow-Up—A Case Report
by Agnieszka Pastuszka, Mateusz Zamłyński, Tomasz Horzelski, Jacek Zamłyński, Ewa Horzelska, Iwona Maruniak-Chudek, Adrianna Marzec, Justyna Paprocka, Patrycja Gazy, Tomasz Koszutski and Anita Olejek
Diagnostics 2022, 12(12), 2978; https://doi.org/10.3390/diagnostics12122978 - 28 Nov 2022
Cited by 1 | Viewed by 2698
Abstract
Open spina bifida is one of the most common congenital defects of the central nervous system. Open fetal surgery, which is one of the available therapeutic options, remains the gold standard for prenatal repairs. Fetoscopic closure may lower the number of maternal complications [...] Read more.
Open spina bifida is one of the most common congenital defects of the central nervous system. Open fetal surgery, which is one of the available therapeutic options, remains the gold standard for prenatal repairs. Fetoscopic closure may lower the number of maternal complications associated with open fetal surgery. Regardless of the approach, the outcome may be compromised by the development of tethered spinal cord (TSC) syndrome. At 24.2 weeks of gestation, a primipara was admitted due to fetal myelomeningocele and was deemed eligible for fetoscopic repair. Fetal surgery was performed at 25.0 weeks of gestation. It was the first complete untethering of the spinal cord and anatomic reconstruction (dura mater, spinal erectors, skin) achieved during a fetoscopic repair of spina bifida. Cesarean section due to placental abruption was performed at 31.1 weeks of gestation. VP shunting, with no need for revision, was performed at 5 weeks postdelivery due to progressing ventriculomegaly. No clinical or radiological signs of secondary tethering were observed. Neurological examination at 11 months postdelivery revealed cranial nerves without any signs of damage, axial hypotonia, decreased muscle tone in the lower extremities, and absent pathological reflexes. Motor development was slightly retarded. Complete untethering of the neural structures should always be performed, regardless of the surgical approach, as it is the only course of action that lowers the risk for developing secondary TSC. Full article
(This article belongs to the Special Issue Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and Future Perspectives)
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9 pages, 1610 KiB  
Case Report
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus
by Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex and Laura Bernardini
Diagnostics 2022, 12(10), 2354; https://doi.org/10.3390/diagnostics12102354 - 28 Sep 2022
Cited by 1 | Viewed by 1309
Abstract
NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and [...] Read more.
NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and microcephaly. Structural brain malformation, such as corpus callosum and cerebellar abnormalities, and heart defects, in particular left ventricular non-compaction (LVNC), represent the most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder. We present on a further case of NONO-related disease; prenatally diagnosed in a fetus with complete corpus callosum agenesis; absence of septum pellucidum; pericallosal artery; LVNC and Ebstein’s anomaly. A high-resolution microarray analysis demonstrated the presence of a deletion affecting the NONO 3′UTR; leading to a marked hypoexpression of the gene and the complete absence of the protein in cultured amniocytes. This case expands the mutational spectrum of MRXS34, advises to evaluate NONO variants in pre- and postnatal diagnosis of subjects affected by LVNC and other heart defects, especially if associated with corpus callosum anomalies and confirm that CNVs (Copy Number Variants) represent a non-negligible cause of Mendelian disorders. Full article
(This article belongs to the Special Issue Advancements in Morphological and Molecular Prenatal Diagnosis: European Practice and Future Perspectives)
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