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Diagnostics
Special Issues
Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy
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Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 31 August 2024 | Viewed by 7014

Special Issue Editors

Prof. Dr. Min Chen

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Guest Editor
Department of Prenatal Diagnosis and Fetal Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China
Interests: prenatal diagnosis; ultrasound; thalassemia
Dr. Kwok-yin Leung

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Guest Editor
Gleneagles Hospital Hong Kong, Hong Kong SAR, China
Interests: prenatal diagnosis; obstetric ultrasound
Dr. Kelvin Y. K. Chan

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Guest Editor
Department of Applied Science, School of Science and Technology, Hong Kong Metropolitan University, Hong Kong 999077, China
Interests: prenatal diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The field of fetal medicine has evolved rapidly. There have been many novel developments in experimental studies of abnormal morphogenesis, pathological and molecular cell biology analyses of human malformations, as well as new technologies for screening, diagnosis, and fetal therapy. The potential challenges and opportunities arising from innovative fetal diagnostic techniques and therapies increasingly require ethical nuance in decision making and counseling, particularly in light of the uncertainties associated with risk and phenotypic variation, and in the lens through which disability and disability issues are viewed.

​This Special Issue aims to provide a comprehensive picture of this research area by bringing together contributions covering all areas of cutting-edge of fetal medicine: from basic science, to prenatal diagnosis and therapy. Contributions may relate to, but are not limited to, fetal development and its relation to malformations, etiology and pathogenetic mechanism study on congenital malformations, non-invasive prenatal diagnosis and screening, current controversies in prenatal diagnosis, new ultrasound technologies, fetal therapy, genetic counseling, as well as the psychosocial and ethical aspects of prenatal diagnosis and treatment.

Prof. Dr. Min Chen
Dr. Kwok-yin Leung
Dr. Kelvin Y. K. Chan
Guest Editors

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
  • prenatal screening
  • fetal abnormality
  • next-generation sequencing
  • fetal therapy
  • fetal imaging
  • noninvasive prenatal testing
  • genetic counselling
  • interpretation of genetic tests
  • ethical, legal and psychosocial aspects
  • health professional training on fetal medicine
  • etiology
  • pathogenetic mechanism
  • congenital malformations
  • molecular mechanisms
  • pathological and molecular cell biology

Published Papers (7 papers)

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Research

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11 pages, 1015 KiB  
Article
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination
by Carole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, Eleonore Eymard-Pierre, Gwendoline Soler, Isabelle Perthus, Céline Pebrel-Richard, Laetitia Gouas, Gaëlle Salaun, Lauren Véronèse, Hélène Laurichesse, Claude Darcha and Andrei Tchirkov
Diagnostics 2023, 13(23), 3576; https://doi.org/10.3390/diagnostics13233576 - 30 Nov 2023
Cited by 1 | Viewed by 796
Abstract
Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, [...] Read more.
Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, and storage conditions. We assessed the feasibility of OGM analysis of DNA from nine umbilical cord (UC) and six chorionic villus (CV) samples collected after the spontaneous or therapeutic termination of pregnancy. We analyzed quality control metrics provided by the Saphyr system (Bionano Genomics) and assessed the length of extracted DNA molecules using pulsed-field capillary electrophoresis. OMG data were successfully analyzed for all six CV samples. Five of the UC samples did not meet the Saphyr quality criteria, mainly due to poor DNA quality. In this regard, we found that DNA quality assessment with pulsed-field capillary electrophoresis can predict a successful OGM analysis. OGM data were fully concordant with the results of standard cytogenetic methods. Moreover, OGM detected an average of 14 additional structural variants involving OMIM genes per sample. On the basis of our results, we established the optimal conditions for sample storage and preparation required for a successful OGM analysis. We recommend checking DNA quality before analysis with pulsed-field capillary electrophoresis if the storage conditions were not ideal or if the quality of the sample is poor. OGM can therefore be performed on fetal tissue harvested after the termination of pregnancy, which opens up the perspective for improved diagnostic yield. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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12 pages, 3097 KiB  
Article
Establishing Reference Intervals for Normal Fetal Lung Biological Parameters at 21–40 Weeks of Gestation in the Chinese Population: A Cross-Sectional Study
by Taihui Xia, Shijing Song, Li Wang, Lijuan Sun, Jingjing Wang and Qingqing Wu
Diagnostics 2023, 13(23), 3525; https://doi.org/10.3390/diagnostics13233525 - 24 Nov 2023
Viewed by 599
Abstract
(1) Background: There is no reliable way to assess antenatal fetal pulmonary hypoplasia; however, the biological parameters of the fetal lung can help in evaluating fetal lung development. This study aimed to establish the reference intervals for normal fetal lung biological parameters at [...] Read more.
(1) Background: There is no reliable way to assess antenatal fetal pulmonary hypoplasia; however, the biological parameters of the fetal lung can help in evaluating fetal lung development. This study aimed to establish the reference intervals for normal fetal lung biological parameters at 21–40 weeks among the Chinese population. (2) Methods: This was a cross-sectional study of Chinese groups, and included a total of 1388 normal single pregnant women at 21–40 weeks’ gestation. We selected 2134 images of a standard four-chamber view (4CV). ImageJ software (Release 2.14.0) was used to measure the left and right lung areas using a manual tracing method; the elliptic function key was used to measure the fetal thoracic circumference (TC), thoracic area (TA), head circumference (HC), heart area (HA), and abdominal circumference (AC). Based on the above measurements, the following parameters were calculated: lung area to head circumference ratio (LHR), total lung area (TLA), TLA/Weight (mm2/g), cardiothoracic ratio (CTR), lung–thoracic area ratio (TLA/TA), lung–heart area ratio (TLA/HA), TC/AC, and TC/HC. (3) Results: The left and right lung areas and LHRs positively correlated with gestational age (R2 = 0.85, 0.88, 0.66, 0.71, p < 0.001). From 21–40 weeks, the left and right lung areas and TLA increased by about 3.33 times, 3.16 times, and 3.22 times, respectively. The means of left and right LHRs increased by about 1.94 times and 1.84 times, respectively. TLA/Weight (mm2/g) was weakly correlated with gestational age, while CTR, TLA/TA, TLA/HA, TC/AC, and TC/HC had no significant correlation with gestational age. There was no statistically significant difference in fetal lung parameters between different genders of newborns, p > 0.05. (4) Conclusions: Our study establishes the reference intervals for normal Chinese fetal lung biological parameters at 21–40 weeks. Moreover, the reference intervals apply to fetuses of different genders. This paper can provide a reference for the prenatal non-invasive assessment of fetal pulmonary hypoplasia. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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15 pages, 1119 KiB  
Article
Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities
by Simin Zhang, Jingjing Wang, Yan Pei, Jijing Han, Xiaowei Xiong, Yani Yan, Juan Zhang, Yan Liu, Fangfei Su, Jinyu Xu and Qingqing Wu
Diagnostics 2023, 13(8), 1493; https://doi.org/10.3390/diagnostics13081493 - 20 Apr 2023
Viewed by 1260
Abstract
(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We [...] Read more.
(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs. We then categorized the CHD into different groups according to two dimensions: different cardiac phenotypes and whether it was combined with ECAs. The correlation between the numerical chromosomal abnormalities (NCAs) and copy number variations (CNVs) with CHDs was analyzed. Statistical analyses, including Chi-square tests and t-tests, were performed on the data using IBM SPSS and GraphPad Prism. (3) Results: In general, CHDs with ECAs increased the detection rate for CA, especially the conotruncal defects. CHD combined with the thoracic and abdominal walls and skeletal, thymic and multiple ECAs, were more likely to exhibit CA. Among the CHD phenotypes, VSD and AVSD were associated with NCA, while DORV may be associated with NCA. The cardiac phenotypes associated with pCNVs were IAA (type A and B), RAA, TAPVC, CoA and TOF. In addition, IAA, B, RAA, PS, CoA and TOF were also associated with 22q11.2DS. The length distribution of the CNV was not significantly different between each CHD phenotype. We detected twelve CNV syndromes, of which six syndromes may be related to CHDs. The pregnancy outcome in this study suggests that termination of pregnancy with fetal VSD and vascular abnormality is more dependent on genetic diagnosis, whereas the outcome in other phenotypes of CHDs may be associated with other additional factors. (4) Conclusions: CMA examination for CHDs is still necessary. We should identify the existence of fetal ECAs and specific cardiac phenotypes, which are helpful for genetic counseling and prenatal diagnosis. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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Review

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24 pages, 12924 KiB  
Review
Phenotypically Discordant Anomalies in Conjoined Twins: Quirks of Nature Governed by Molecular Pathways?
by Lucas L. Boer, Eduard Winter, Ben Gorissen and Roelof-Jan Oostra
Diagnostics 2023, 13(22), 3427; https://doi.org/10.3390/diagnostics13223427 - 10 Nov 2023
Viewed by 950
Abstract
A multitude of additional anomalies can be observed in virtually all types of symmetrical conjoined twins. These concomitant defects can be divided into different dysmorphological patterns. Some of these patterns reveal their etiological origin through their topographical location. The so-called shared anomalies are [...] Read more.
A multitude of additional anomalies can be observed in virtually all types of symmetrical conjoined twins. These concomitant defects can be divided into different dysmorphological patterns. Some of these patterns reveal their etiological origin through their topographical location. The so-called shared anomalies are traceable to embryological adjustments and directly linked to the conjoined-twinning mechanism itself, inherently located within the boundaries of the coalescence area. In contrast, discordant patterns are anomalies present in only one of the twin members, intrinsically distant from the area of union. These dysmorphological entities are much more difficult to place in a developmental perspective, as it is presumed that conjoined twins share identical intra-uterine environments and intra-embryonic molecular and genetic footprints. However, their existence testifies that certain developmental fields and their respective developmental pathways take different routes in members of conjoined twins. This observation remains a poorly understood phenomenon. This article describes 69 cases of external discordant patterns within different types of otherwise symmetrical mono-umbilical conjoined twins and places them in a developmental perspective and a molecular framework. Gaining insights into the phenotypes and underlying (biochemical) mechanisms could potentially pave the way and generate novel etiological visions in the formation of conjoined twins itself. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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Other

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16 pages, 7192 KiB  
Case Report
Immature Sacrococcygeal Teratoma: A Case Report and Extensive Review of the Literature
by Valentin Nicolae Varlas, Eliza Maria Cloțea, Roxana Georgiana Varlas, Anca Pop, Ovidiu Peneș, Dragoș Crețoiu, Vlad Dima and Laura Bălănescu
Diagnostics 2024, 14(3), 246; https://doi.org/10.3390/diagnostics14030246 - 24 Jan 2024
Viewed by 757
Abstract
Immature sacrococcygeal teratoma represents a histological form with rapid tumor growth, a risk of premature birth, an enhanced rate of complications, an increased risk of recurrence, and a higher mortality rate than the mature type. Thus, prenatal diagnosis of immature forms would significantly [...] Read more.
Immature sacrococcygeal teratoma represents a histological form with rapid tumor growth, a risk of premature birth, an enhanced rate of complications, an increased risk of recurrence, and a higher mortality rate than the mature type. Thus, prenatal diagnosis of immature forms would significantly improve the prognosis of these cases. To this end, we performed an extensive literature review on the diagnosis, therapeutic management, and follow-up of immature teratomas. Regarding this medical conduct, we also presented our case. In conclusion, the early identification of immature sacrococcygeal teratomas with or without other associated structural abnormalities and their correct therapeutic approach are basic principles for a favorable evolution of these cases. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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10 pages, 1089 KiB  
Case Report
Fetal Hyperthyroidism with Maternal Hypothyroidism: Two Cases of Intrauterine Therapy
by Lu Hong, Mary Hoi Yin Tang, Ka Wang Cheung, Libing Luo, Cindy Ka Yee Cheung, Xiaoying Dai, Yanyan Li, Chuqin Xiong, Wei Liang, Wei Xiang, Liangbing Wang, Kelvin Yuen Kwong Chan and Shengmou Lin
Diagnostics 2024, 14(1), 102; https://doi.org/10.3390/diagnostics14010102 - 03 Jan 2024
Cited by 1 | Viewed by 1303
Abstract
Fetal hyperthyroidism can occur secondary to maternal autoimmune hyperthyroidism. The thyroid-stimulating hormone receptor antibody (TRAb) transferred from the mother to the fetus stimulates the fetal thyroid and causes fetal thyrotoxicosis. Fetuses with this condition are difficult to detect, especially after maternal Graves disease [...] Read more.
Fetal hyperthyroidism can occur secondary to maternal autoimmune hyperthyroidism. The thyroid-stimulating hormone receptor antibody (TRAb) transferred from the mother to the fetus stimulates the fetal thyroid and causes fetal thyrotoxicosis. Fetuses with this condition are difficult to detect, especially after maternal Graves disease therapy. Here, we present two cases of fetal hyperthyroidism with maternal hypothyroidism and review the assessment and intrauterine therapy for fetal hyperthyroidism. Both women were referred at 22+ and 23+ weeks of gestation with abnormal ultrasound findings, including fetal heart enlargement, pericardial effusion, and fetal tachycardia. Both women had a history of Graves disease while in a state of hypothyroidism with a high titer of TRAb. A sonographic examination showed a diffusely enlarged fetal thyroid with abundant blood flow. Invasive prenatal testing revealed no significant chromosomal aberration. Low fetal serum TSH and high TRAb levels were detected in the cord blood. Fetal hyperthyroidism was considered, and maternal oral methimazole (MMI) was administered as intrauterine therapy, with the slowing of fetal tachycardia, a reduction in fetal heart enlargement, and thyroid hyperemia. During therapy, maternal thyroid function was monitored, and the dosage of maternal levothyroxine was adjusted accordingly. Both women delivered spontaneously at 36+ weeks of gestation, and neonatal hyperthyroidism was confirmed in both newborns. After methimazole and propranolol drug treatment with levothyroxine for 8 and 12 months, both babies became euthyroid with normal growth and development. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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11 pages, 7723 KiB  
Interesting Images
Congenital High Airway Obstructive Syndrome (CHAOS) Survival of a Newborn with Laryngeal Atresia
by Carmen Heriseanu, Mihaela Bizubac, Loredana Draghia, Veronica Marcu, Dan Gheorghe and Catalin Cirstoveanu
Diagnostics 2023, 13(24), 3658; https://doi.org/10.3390/diagnostics13243658 - 14 Dec 2023
Viewed by 748
Abstract
Congenital high airway obstructive syndrome (CHAOS) is a rare congenital anomaly, frequently caused by laryngeal or tracheal atresia, tracheal stenosis, and obstructing laryngeal cysts. This is a congenital malformation, often fatal, with an unknown prevalence. Laryngeal atresia is the most frequent cause. We [...] Read more.
Congenital high airway obstructive syndrome (CHAOS) is a rare congenital anomaly, frequently caused by laryngeal or tracheal atresia, tracheal stenosis, and obstructing laryngeal cysts. This is a congenital malformation, often fatal, with an unknown prevalence. Laryngeal atresia is the most frequent cause. We report a case of an intrauterine diagnosis of CHAOS and ascites in a 17-week fetus delivered at 38 weeks of gestation without other associated malformations. A fetoscopic procedure was performed at 22 weeks of gestation. An attempt was made to perforate the affected area to ensure pulmonary fluid circulation and the ascites’ resolution. After birth, a tracheostomy was performed. The patient was mechanically ventilated until 11 months of age, when she was discharged with no cerebral or other complications of immediate postnatal anoxia or episodes of respiratory arrest. A laryngotracheoplasty was performed at 2 years old, but decannulation was not possible due to certain complications. At 5 years old, a new surgical intervention was performed, which allowed decannulation 6 months later. Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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