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The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine...
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The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine and Human Reproduction

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 July 2023) | Viewed by 8925

Special Issue Editor

Prof. Dr. Ming Chen

E-Mail Website
Guest Editor
Changhua Christian Hospital Medical Center, Changhua, Taiwan
Interests: medical genetics; clinical genomics; prenatal diagnosis; fetal medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Both image and genetics are important modalities to elucidate disease entities and complex clinical scenarios in the field of maternal-fetal medicine and human reproduction. This year 2022 marks the 200th anniversary of the birth of Gregor Mendel (1822-1884), the founder of genetics, and the 35th year anniversary of the departure of the pioneer of obstetric ultrasound, Sir Ian Donald (1910-1987). We welcome all submissions related to using image modalities such as ultrasound, MRI, and others as well as using all available tools of genetics and genomics to study the complex pathophysiology of human fetuses and embryos.

Prof. Dr. Ming Chen
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
  • ultrasound
  • next generation sequencing
  • medical genetics and genomics
  • maternal-fetal medicine
  • human reproduction
  • preimplantation genetic testing

Published Papers (4 papers)

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Research

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10 pages, 2418 KiB  
Article
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
by Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola and Gabriella Esposito
Diagnostics 2023, 13(15), 2552; https://doi.org/10.3390/diagnostics13152552 - 31 Jul 2023
Viewed by 879
Abstract
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels. Burosumab, the approved human monoclonal anti-FGF23 antibody, is the [...] Read more.
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels. Burosumab, the approved human monoclonal anti-FGF23 antibody, is the treatment of choice for XLH. The genetic and phenotypic heterogeneity of HR often delays XLH diagnoses, with critical effects on disease course and therapy. We herein report the clinical and genetic features of two Italian female infants with sporadic HR who successfully responded to burosumab. Their diagnoses were based on clinical and laboratory findings and physical examinations. Next-generation sequencing (NGS) of the genes associated with inherited HR and multiple ligation probe amplification (MLPA) analysis of the PHEX and FGF23 genes were performed. While a conventional analysis of the NGS data did not reveal pathogenic or likely pathogenic small nucleotide variants (SNVs) in the known HR-related genes, a quantitative analysis identified two different heterozygous de novo large intragenic deletions in PHEX, and this was confirmed by MLPA. Our molecular data indicated that deletions in the PHEX gene can be the cause of a significant fraction of XLH; hence, their presence should be evaluated in SNV-negative female patients. Our patients successfully responded to burosumab, demonstrating the efficacy of this drug in the treatment of XLH. In conclusion, the execution of a phenotype-oriented genetic test, guided by known types of variants, including the rarest ones, was crucial to reach the definitive diagnoses and ensure our patients of long-term therapy administration. Full article
(This article belongs to the Special Issue The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine and Human Reproduction)
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11 pages, 817 KiB  
Article
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
by Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen and Gwo-Chin Ma
Diagnostics 2022, 12(10), 2267; https://doi.org/10.3390/diagnostics12102267 - 20 Sep 2022
Cited by 2 | Viewed by 1768
Abstract
Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements, [...] Read more.
Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements, and hermaphrodites. Different methodologies are required to elucidate the underlying causes of such diseases in female patients. Methods: Three families with female hemophilia patients, including two HA and one HB, were enrolled for genetic analyses. Cytogenetics, molecular examinations on F8 and F9 genes, XCI assay, and linkage analysis were performed. Results: All three female patients are demonstrated to be heterozygous for an F8, or F9 mutation: one patient is inherited from her unaffected mother and the other two are sporadic cases. All three patients exhibit skewed XCI. The inherited patient is found to be unmethylated in the maternal X chromosome, which increases the potential for the expression of the mutant allele. The two sporadic cases are hypomethylated or unmethylated in the paternal X chromosome, suggesting that paternal gonadal mosaicism may exist in these families. Conclusions: In addition to screening for coagulation function, different genetic analyses are mandatory to explore the nature of mechanisms responsible for the X-linked recessive disorders in female patients as shown in this study. Our results confirm that skewed XCI is responsible for hemophilia in heterozygous female patients. Likewise, our results implicate that parental gonadal mosaicism, followed by skewed XCI, contributes to hemophilia in “sporadic” female patients. Full article
(This article belongs to the Special Issue The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine and Human Reproduction)
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Review

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16 pages, 1365 KiB  
Review
Uterine Perforation as a Complication of the Intrauterine Procedures Causing Omentum Incarceration: A Review
by George Lucian Zorilă, Răzvan Grigoraș Căpitănescu, Roxana Cristina Drăgușin, Anca-Maria Istrate-Ofițeru, Elena Bernad, Mădălina Dobie, Sandor Bernad, Marius Craina, Iuliana Ceaușu, Marius Cristian Marinaş, Maria-Cristina Comănescu, Marian Valentin Zorilă, Ileana Drocaș, Elena Iuliana Anamaria Berbecaru and Dominic Gabriel Iliescu
Diagnostics 2023, 13(2), 331; https://doi.org/10.3390/diagnostics13020331 - 16 Jan 2023
Cited by 2 | Viewed by 4084
Abstract
Objective: Omentum involvement resulting from uterine perforation is a rare complication following intrauterine procedures that might require immediate intervention due to severe ischemic consequences. This review examines the prevalence of this complication, risk factors, the mode and timing of diagnosis, the proper management [...] Read more.
Objective: Omentum involvement resulting from uterine perforation is a rare complication following intrauterine procedures that might require immediate intervention due to severe ischemic consequences. This review examines the prevalence of this complication, risk factors, the mode and timing of diagnosis, the proper management and the outcome. Methods: A systematic literature search was conducted on PubMed, PubMed Central and Scopus using uterine perforation, D&C, abortion and omentum as keywords. The exclusion criteria included the presence of the uterus or placenta’s malignancy and uterine perforation following delivery or caused by an intrauterine device. Results: The review included 11 articles from 133 screened papers. We identified 12 cases that three evaluators further analysed. We also present the case of a 32-year-old woman diagnosed with uterine perforation and omentum involvement. The patient underwent a hysteroscopic procedure with resectioning the protruding omentum into the uterine cavity, followed by intrauterine device insertion. Conclusion: This paper highlights the importance of a comprehensive gynaecological evaluation following a D&C procedure that includes a thorough clinical examination and a detailed ultrasound assessment. Healthcare providers should not overlook the diagnosis of omentum involvement in the presence of a history of intrauterine procedures. Full article
(This article belongs to the Special Issue The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine and Human Reproduction)
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Other

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4 pages, 1861 KiB  
Interesting Images
An Interesting Image of Transmural Migration of a Levonorgestrel-Releasing Intrauterine Device (LNg-IUD)
by Melinda-Ildiko Mitranovici, Diana Maria Chiorean, Adrian-Horațiu Sabău, Iuliu-Gabriel Cocuz, Andreea Cătălina Tinca, Mihaela Cornelia Mărginean, Maria Cătălina Popelea, Traian Irimia, Raluca Moraru, Claudiu Mărginean, Marius Lucian Craina, Izabella Petre, Elena Silvia Bernad, Ion Petre and Ovidiu Simion Cotoi
Diagnostics 2022, 12(9), 2227; https://doi.org/10.3390/diagnostics12092227 - 15 Sep 2022
Cited by 1 | Viewed by 1583
Abstract
Intrauterine devices (IUDs) are very common as a method of birth control. By adding progesterone (levonorgestrel), a decrease in the risk of complications has been documented, including the risk of perforation. Even though only a few complications have been described, adjacent organs may [...] Read more.
Intrauterine devices (IUDs) are very common as a method of birth control. By adding progesterone (levonorgestrel), a decrease in the risk of complications has been documented, including the risk of perforation. Even though only a few complications have been described, adjacent organs may be involved in the case of migration—a life-threatening situation. A 45-year-old G4P2 woman was seen in our clinic for LNg-IUD removal, according to the medical instructions. Her main complaints were abdominal discomfort, low back pain, and recurrent menorrhagia. A “lost” IUD was initially suspected; the patient confirmed the detection and removal of the control strings, and a subsequent discussion related to delayed transmural migration of the IUD being followed. The ultrasonography revealed the migration of the IUD to the uterine cervix and size-decreased uterine fibroids, confirming the effectiveness of the LNg-IUD. The MRI and ultrasonography being useless, a subsequent X-ray and CT scan were requested, both confirming a myometrium-positioned IUD, adjacent to the serosa and lumbosacral plexus. Even though the IUD is considered a safe device with reversible effect, it can be associated with severe morbidity, with an ultrasound follow-up being required. For more precise detection of the IUD, we strongly recommend an X-ray or CT scan examination, followed by safe removal. Full article
(This article belongs to the Special Issue The Role of Image and Genetic Diagnostics in Maternal-Fetal Medicine and Human Reproduction)
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