Editorial

2 pages, 151 KiB

Open AccessEditorial

Fetal and Maternal Diseases in Pregnancy: From Morphology to Function

by Gabriele Masselli

Diagnostics 2022, 12(5), 1117; https://doi.org/10.3390/diagnostics12051117 - 29 Apr 2022

Cited by 1 | Viewed by 1036

Ultrasound (US) is currently the standard approach for the initial evaluation of fetal anatomy and maternal conditions during pregnancy since it facilitates a real-time examination and is widely available and cost-effective [...] Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

Research

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12 pages, 1882 KiB

Open AccessArticle

Prenatal Diagnosis of Bovine Aortic Arch Anatomic Variant

by Liana Pleș, Cătălin Cîrstoveanu, Romina-Marina Sima, Gabriel-Petre Gorecki, Radu Chicea and Bashar Haj Hamoud

Diagnostics 2022, 12(3), 624; https://doi.org/10.3390/diagnostics12030624 - 02 Mar 2022

Cited by 2 | Viewed by 4399

Abstract

Fetal aortic arch development is an early and complex process that depends on many genetic and environmental factors. The final aortic arch varies greatly; it may take the form of a normal arch, anatomic variant (AAAV) with a common origin to that of [...] Read more.

Fetal aortic arch development is an early and complex process that depends on many genetic and environmental factors. The final aortic arch varies greatly; it may take the form of a normal arch, anatomic variant (AAAV) with a common origin to that of the innominate artery and left common carotid artery (formerly known as “bovine aortic arch” (with an incidence of up to 27%)) or one of multiple pathological conditions. The present study aimed to establish the feasibility and impact of prenatal anatomic arch variants’ diagnosis. A retrospective study of 271 fetal second- and third-trimester anomaly scans was performed in our tertiary center. Examinations that evaluated the sagittal aortic arch were included and the branching pattern was assessed. Additionally, a literature data search based on the terms “common origin of innominate artery and left common carotid artery”, “bovine arch”, “bovine aortic” and “aortic arch anomalies” was performed. Results that referred to prenatal AAAV were retained and the papers evaluated. In our study, the AAA incidence was 1.93%, with 4 out of 5 cases being arch type B. All cases had minor associated conditions but a good postnatal outcome. An anatomic aortic variant with a common IA and LCCa prenatal diagnosis was found in a small number of studies; most of the cases described in pediatric and adult series were related to cardiac surgery for stenting, aneurysm or thoracic-associated diseases. The incidence of AAAV varied from 6 to 27% depending on the population studied (highest incidence in African individuals). The variant was highly associated with aortic dissection, pulmonary and cerebral embolism and increased risks of incidents during surgery. Diagnosing AAAV during a routine anatomic scan is feasible and diagnoses can be made when anomaly scans are performed. Awareness of the condition is important for postnatal surgery when other cardiac anomalies are found; this can prevent accidents with simple changes to the patient’s lifestyle, and, in the case of surgery, means we can adopt the correct surgical approach. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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16 pages, 5498 KiB

Open AccessArticle

Feasibility of Fetal Portal Venous System Ultrasound Assessment at the FT Anomaly Scan

by Rodica Daniela Nagy, Dan Ruican, George-Lucian Zorilă, Anca-Maria Istrate-Ofiţeru, Anne Marie Badiu and Dominic Gabriel Iliescu

Diagnostics 2022, 12(2), 361; https://doi.org/10.3390/diagnostics12020361 - 31 Jan 2022

Cited by 4 | Viewed by 4289

Abstract

Objective: To investigate the feasibility of the first trimester (FT) ultrasound scan (US) for the evaluation of the fetal portal venous system (PVS) anatomy, and to evaluate the potential of microcopy for a proper pathology evaluation for the PVS in the FT. Methods: [...] Read more.

Objective: To investigate the feasibility of the first trimester (FT) ultrasound scan (US) for the evaluation of the fetal portal venous system (PVS) anatomy, and to evaluate the potential of microcopy for a proper pathology evaluation for the PVS in the FT. Methods: We evaluated the PVS in 200 scan examinations performed in FT pregnancy. Half of the cases were scanned by two operators with extensive experience in obstetric ultrasound—Group I, and the other half was evaluated by two sonographers with less experience—Group II. Second-trimester US and autopsy in terminated pregnancies were used as follow-up. The pathologic evaluation was supported by microscopy. Results: all PVS features were successfully assessed by transabdominal ultrasound (TAUS) in 27% of the Group I cases and 14% in Group II. These rates increased to 88% in Group I and in 72% in Group II, after rescanning and using transvaginal ultrasound (TVUS). The conditions that led to rescanning and TVUS were: BMI greater than 24 in 26% cases, unfavorable fetal position (12.32%), retroverted uterus (12.32%), abdominal scar (10.96%), fibroids (4.11%), and combinations of the above (34.23%). The L-shaped UV confluence was identified transabdominally in 91% in Group I and in 79% in Group II and increased to 98% and 95%, respectively, following reevaluations. Microscopy represented a useful audit in all FT investigated cases. Conclusions: At the end of the FT, the visualization of a normal L-shaped UV confluence, that excludes major PVS abnormalities, is achievable in approx. 80%, indifferently the examiners experience. The sonographers experience, pregnant women BMI, and uterine anomalies as fibroids or retroversion significantly affect the rate of visualization, and necessitates vaginal approach and reexamination. The FT pathology, the audit of the ultrasound findings can only be performed microscopically, with relatively little resources involved and good results. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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23 pages, 8768 KiB

Open AccessArticle

Clinically Relevant Prenatal Ultrasound Diagnosis of Umbilical Cord Pathology

by Roxana Elena Bohîlțea, Vlad Dima, Ioniță Ducu, Ana Maria Iordache, Bianca Margareta Mihai, Octavian Munteanu, Corina Grigoriu, Alina Veduță, Dimitrie Pelinescu-Onciul and Radu Vlădăreanu

Diagnostics 2022, 12(2), 236; https://doi.org/10.3390/diagnostics12020236 - 19 Jan 2022

Cited by 12 | Viewed by 7249

Abstract

Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to [...] Read more.

Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies’ guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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11 pages, 26667 KiB

Open AccessArticle

Uterine Artery Embolization Combined with Subsequent Suction Evacuation as Low-Risk Treatment for Cesarean Scar Pregnancy

by Roxana Bohiltea, Ionita Ducu, Bianca Mihai, Ana-Maria Iordache, Bogdan Dorobat, Emilia Maria Vladareanu, Stefan-Marian Iordache, Alexia-Teodora Bohiltea, Nicolae Bacalbasa, Cristiana Eugenia Ana Grigorescu and Valentin Varlas

Diagnostics 2021, 11(12), 2350; https://doi.org/10.3390/diagnostics11122350 - 14 Dec 2021

Cited by 2 | Viewed by 2780

Abstract

Objective: The aim of this study is to propose a standardized management of care for patients diagnosed with cesarean scar pregnancy (CSP). There are two types of CSP: Type 1 (on the scar) vs. type 2 (in the niche). To date there is [...] Read more.

Objective: The aim of this study is to propose a standardized management of care for patients diagnosed with cesarean scar pregnancy (CSP). There are two types of CSP: Type 1 (on the scar) vs. type 2 (in the niche). To date there is no international standard to predict the extent of invasion or the optimal management of CSP. Materials and methods: We used intramuscular methotrexate injection followed by uterine artery embolization combined with suction evacuation as a conservative approach for the treatment of seven patients diagnosed with CSP. Our inclusion criteria, to be satisfied simultaneously, were established as follows: (1) patients with CSP; (2) early gestational age ≤ 9 weeks, and (3) written consent of the proposed treatment of the patient. Results: This course of treatment produced a positive outcome in all cases. We did not have any complications (e.g., emergency hysterectomy, perforation of the uterine cavity, severe hemorrhage, or endometritis) during the procedures or in the follow-up. The most important predictors of successful management are early diagnosis of CSP and orientation of the invasive trophoblast opposite to the scar. Conclusions: The main finding from this series of cases is that associating systemic methotrexate and uterine artery embolization provides efficient and low-risk management of CSP. This treatment regime is adequate for both types of CSPs. We consider that early localization diagnosis of pregnancy following a cesarean delivery is mandatory for CSP morbidity prevention. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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14 pages, 7942 KiB

Open AccessArticle

Transvaginal Ultrasound as a First-Line Approach in Deep Endometriosis: A Pictorial Essay

by Bogdan Doroftei, Radu Maftei, Ovidiu-Dumitru Ilie, Gabriela Simionescu, Emil Anton, Theodora Armeanu, Ana-Maria Dabuleanu, Elena Mihalceanu, Constantin Condac and Ciprian Ilea

Diagnostics 2021, 11(3), 444; https://doi.org/10.3390/diagnostics11030444 - 04 Mar 2021

Cited by 3 | Viewed by 5788

Abstract

Endometriosis (EMS) is a benign condition characterized by a systemic inflammation that affects fertile women at reproductive age. Ultrasound became, in recent years, the method of choice for both effective diagnostic and preoperative planning. Therefore, accurate characterization and mapping of endometriotic lesions is [...] Read more.

Endometriosis (EMS) is a benign condition characterized by a systemic inflammation that affects fertile women at reproductive age. Ultrasound became, in recent years, the method of choice for both effective diagnostic and preoperative planning. Therefore, accurate characterization and mapping of endometriotic lesions is imperative in such circumstances to enable optimal approach of treatment, whether surgical or non-surgical based on the severity of the findings. This pictorial essay outlines a practical approach to evaluating patients with deep endometriosis by means of transvaginal ultrasound. The technical aspects are in conjunction with both consensus of the International Deep Endometriosis Analysis (IDEA) group and the hands-on experience acquired through daily clinical practice. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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10 pages, 1234 KiB

Open AccessArticle

Ultrasonographic Diagnosis of Placenta Accreta Spectrum (PAS) Disorder: Ideation of an Ultrasonographic Score and Correlation with Surgical and Neonatal Outcomes

by Valentina Del Negro, Natalia Aleksa, Cecilia Galli, Enrico Ciminello, Martina Derme, Flaminia Vena, Ludovico Muzii and Maria Grazia Piccioni

Diagnostics 2021, 11(1), 23; https://doi.org/10.3390/diagnostics11010023 - 25 Dec 2020

Cited by 12 | Viewed by 2721

Abstract

The objective of this study was to evaluate a novel ultrasonographic scoring system for the diagnosis of PAS and the prediction of maternal and neonatal outcomes. In this retrospective study, 138 patients with at least one previous caesarean section (CS) and placenta previa [...] Read more.

The objective of this study was to evaluate a novel ultrasonographic scoring system for the diagnosis of PAS and the prediction of maternal and neonatal outcomes. In this retrospective study, 138 patients with at least one previous caesarean section (CS) and placenta previa were included. They were divided into four groups ranging from Group 0 (Non PAS) to Group 3 (Placenta Percreta) according to the histological or surgical confirmation. Their ultrasound examinations during pregnancy were reviewed according to the nine different ultrasound signs reported by the European Working Group on Abnormally Invasive Placenta. For each parameter, 0 to 2 points were assigned. The sum of the points reflects the severity of PAS with a maximum score of 20. The scoring system revealed good performances in evaluation metrics, with an overall accuracy of 94%. In addition to this, patients’ characteristics and surgical and neonatal outcomes were analyzed with an evidence of higher incidence of complications in severe forms. Our study suggests that antenatal ultrasonographic diagnosis of PAS is feasible with sufficient level of accuracy. This will be important in identifying high-risk patients and implementing preventive strategy. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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8 pages, 738 KiB

Open AccessArticle

Prenatal Prediction of Outcome by Fetal Gastroschisis in a Tertiary Referral Center

by Katharina Nitzsche, Guido Fitze, Mario Rüdiger and Cahit Birdir

Diagnostics 2020, 10(8), 540; https://doi.org/10.3390/diagnostics10080540 - 30 Jul 2020

Cited by 9 | Viewed by 3501

Abstract

: The aim of this study was to find a prenatal parameter to be able to predict possible prenatal complications or postnatal surgical options, thus allowing the fetal medicine specialist, together with pediatric surgeons and neonatologists, to improve the counseling of the parents [...] Read more.

: The aim of this study was to find a prenatal parameter to be able to predict possible prenatal complications or postnatal surgical options, thus allowing the fetal medicine specialist, together with pediatric surgeons and neonatologists, to improve the counseling of the parents and to determine the timing of delivery and therapy. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 34 cases of gastroschisis between the years 2007 and 2017. A total of 34 fetuses with gastroschisis were examined and 33 outcomes registered: 22 cases of simple gastroschisis (66.7%) and 11 cases of complex gastroschisis (33.3%). A cut-off value of 18 mm for intraabdominal bowel dilatation (IABD) showed a positive predictive value (PPV) of 100% for predicting simple gastroschisis. IABD gives the best prediction for simple versus complex gastroschisis (cut-off of 18 mm). Extra-abdominal bowel dilatation (EABD) cut-off values of 10 mm and 18 mm showed low sensitivity and specificity to predict complex gastroschisis. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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Review

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19 pages, 743 KiB

Open AccessReview

An Updated Narrative Mini-Review on the Microbiota Changes in Antenatal and Post-Partum Depression

by Bogdan Doroftei, Ovidiu-Dumitru Ilie, Roxana Diaconu, Delia Hutanu, Irina Stoian and Ciprian Ilea

Diagnostics 2022, 12(7), 1576; https://doi.org/10.3390/diagnostics12071576 - 28 Jun 2022

Cited by 1 | Viewed by 3014

Abstract

Background: Antenatal depression (AND) and post-partum depression (PPD) are long-term debilitating psychiatric disorders that significantly influence the composition of the gut flora of mothers and infants that starts from the intrauterine life. Not only does bacterial ratio shift impact the immune system, but [...] Read more.

Background: Antenatal depression (AND) and post-partum depression (PPD) are long-term debilitating psychiatric disorders that significantly influence the composition of the gut flora of mothers and infants that starts from the intrauterine life. Not only does bacterial ratio shift impact the immune system, but it also increases the risk of potentially life-threatening disorders. Material and Methods: Therefore, we conducted a narrative mini-review aiming to gather all evidence published between 2018–2022 regarding microflora changes in all three stages of pregnancy. Results: We initially identified 47 potentially eligible studies, from which only 7 strictly report translocations; 3 were conducted on rodent models and 4 on human patients. The remaining studies were divided based on their topic, precisely focused on how probiotics, breastfeeding, diet, antidepressants, exogenous stressors, and plant-derived compounds modulate in a bidirectional way upon behavior and microbiota. Almost imperatively, dysbacteriosis cause cognitive impairments, reflected by abnormal temperament and personality traits that last up until 2 years old. Thankfully, a distinct technique that involves fecal matter transfer between individuals has been perfected over the years and was successfully translated into clinical practice. It proved to be a reliable approach in diminishing functional non- and gastrointestinal deficiencies, but a clear link between depressive women’s gastrointestinal/vaginal microbiota and clinical outcomes following reproductive procedures is yet to be established. Another gut-dysbiosis-driving factor is antibiotics, known for their potential to trigger inflammation. Fortunately, the studies conducted on mice that lack microbiota offer, without a shadow of a doubt, insight. Conclusions: It can be concluded that the microbiota is a powerful organ, and its optimum functionality is crucial, likely being the missing puzzle piece in the etiopathogenesis of psychiatric disorders. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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11 pages, 651 KiB

Open AccessReview

Twin-to-Twin Transfusion Syndrome: Diagnostic Imaging and Its Role in Staving Off Malpractice Charges and Litigation

by Simona Zaami, Gabriele Masselli, Roberto Brunelli, Giulia Taschini, Stefano Caprasecca and Enrico Marinelli

Diagnostics 2021, 11(3), 445; https://doi.org/10.3390/diagnostics11030445 - 04 Mar 2021

Cited by 2 | Viewed by 2622

Abstract

The study aims to expound upon the imaging-based diagnostic methodologies aimed at identifying twin-to-twin transfusion syndrome (TTTS), a serious, somewhat rare prenatal condition that takes place in pregnancies where identical twins, or other multiples, share a placenta (monochorionic placenta), highlighting how medico-legal outcomes [...] Read more.

The study aims to expound upon the imaging-based diagnostic methodologies aimed at identifying twin-to-twin transfusion syndrome (TTTS), a serious, somewhat rare prenatal condition that takes place in pregnancies where identical twins, or other multiples, share a placenta (monochorionic placenta), highlighting how medico-legal outcomes can be affected by provable compliance with consolidated diagnostic guidelines or best practices. It is of utmost importance to produce a prompt identification of TTTS instances; an early diagnosis is in fact critical in order to effectively treat and manage TTTS. By virtue of TTTS being a highly progressive condition, a delay in diagnosis can result in disastrous outcomes; just a few weeks delay in the diagnosis of TTTS can turn out fatal for one or both twins. Hence, most TTTS malpractice claims involve allegations of medical negligence, namely the failure to recognize the condition in a timely fashion, or to proceed with adequate diagnostic and therapeutic pathways. In that regard, case law databases have been pored over (Justia, Lexis, Leagle), and five significant court cases have been examined and discussed in an attempt to identify objective medico-legal standards and bring to the forefront relevant forensic dynamics. In fact, when health professionals are capable of proving adherence to guidelines or best practices, this can shield them from malpractice allegations and ensuing litigation. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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Other

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2 pages, 870 KiB

Open AccessInteresting Images

Monochorionic Diamniotic Twins with Bordering Cord Insertions: Images and Outcome

by Lucian G. Pop, Madalina Piron, Viorica Radoi, Nicolae Bacalbasa and Oana D. Toader

Diagnostics 2022, 12(4), 985; https://doi.org/10.3390/diagnostics12040985 - 14 Apr 2022

Viewed by 1473

Abstract

Twin pregnancy contributes to perinatal mortality, particularly monochorionic diamniotic twin pregnancy. Placental abnormalities are much more common in twin pregnancies than in singletons. In MCDA pregnancy, vascular anastomoses are always present and are accountable for severe complications such as Twin-to-Twin transfusion syndrome (TTTS). [...] Read more.

Twin pregnancy contributes to perinatal mortality, particularly monochorionic diamniotic twin pregnancy. Placental abnormalities are much more common in twin pregnancies than in singletons. In MCDA pregnancy, vascular anastomoses are always present and are accountable for severe complications such as Twin-to-Twin transfusion syndrome (TTTS). In TTTS, umbilical cords are usually inserted at a distance from each other. We present a rare type of MCDA pregnancy, TTTS gr 1 case with bordering umbilical cord insertions. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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9 pages, 1963 KiB

Open AccessCase Report

Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review

by Kuntharee Traisrisilp, Yuri Yanase, Krittaya Phirom and Theera Tongsong

Diagnostics 2022, 12(4), 885; https://doi.org/10.3390/diagnostics12040885 - 01 Apr 2022

Viewed by 1665

Abstract

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth [...] Read more.

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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8 pages, 3803 KiB

Open AccessCase Report

Ultrasonographic Diagnosis of Fetal Hypospadias

by Kim-Seng Law

Diagnostics 2022, 12(4), 774; https://doi.org/10.3390/diagnostics12040774 - 22 Mar 2022

Cited by 3 | Viewed by 8944

Abstract

Fetal hypospadias should be consider in a male fetus with a shortened penis, blunt bulbous tips, ventrally curved shaft with or without chordee and a typical fan shape stream of urinary jet under color Doppler under prenatal ultrasound examination. The more severe form [...] Read more.

Fetal hypospadias should be consider in a male fetus with a shortened penis, blunt bulbous tips, ventrally curved shaft with or without chordee and a typical fan shape stream of urinary jet under color Doppler under prenatal ultrasound examination. The more severe form is usually accompanied by other congenital abnormalities. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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12 pages, 9516 KiB

Open AccessCase Report

Fetal Pancreatic Hamartoma Associated with Hepatoblastoma—An Unusual Tumor Association

by Valentin Varlas, Oana Neagu, Andreea Moga, Radu Bălănescu, Roxana Bohiltea, Radu Vladareanu and Laura Balanescu

Diagnostics 2022, 12(3), 758; https://doi.org/10.3390/diagnostics12030758 - 20 Mar 2022

Cited by 4 | Viewed by 2263

Abstract

Abdominal tumor masses are a very rare disease in the fetus. The authors present the first reported case of neonatal multicystic adenomatoid hamartoma of the pancreas associated with well-differentiated fetal epithelial subtype hepatoblastoma and reveal clinical, histologic, and imagistic aspects. Case presentation: A 36-week-old [...] Read more.

Abdominal tumor masses are a very rare disease in the fetus. The authors present the first reported case of neonatal multicystic adenomatoid hamartoma of the pancreas associated with well-differentiated fetal epithelial subtype hepatoblastoma and reveal clinical, histologic, and imagistic aspects. Case presentation: A 36-week-old female newborn in whom a 25-week ultrasound showed a relatively homogeneous pancreatic echogenic mass (34 × 30 × 55 mm) with compression of the inferior vena cava and retrograde dilation. Postnatal CT showed a giant pancreatic tumor mass (113 × 70 × 60 mm), with areas enhancing contrast and cystic/necrotic areas and a hypodense, hypocaptive nodule of 8 × 6 mm located at segment IV of the liver; thrombosis of the subhepatic segment of the inferior vena cava and both renal veins. Histopathological and immunohistochemical studies confirmed the diagnosis of multicystic pancreatic adenomatoid hamartoma and well-differentiated fetal epithelial subtype hepatoblastoma. Conclusions: Pancreatic hamartoma can be difficult to diagnose (especially prenatal), with or without nonspecific symptoms. The synchronous presence of hepatoblastoma complicated the therapeutic conduct and prognosis of this case, with the diagnosis being confirmed histopathologically and immunohistochemically after liver biopsy. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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8 pages, 1797 KiB

Open AccessCase Report

Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review

by Kuntharee Traisrisilp, Yuri Yanase, Srimeunwai Ake-sittipaisarn and Theera Tongsong

Diagnostics 2022, 12(2), 421; https://doi.org/10.3390/diagnostics12020421 - 06 Feb 2022

Cited by 1 | Viewed by 3356

Abstract

Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case [...] Read more.

Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case of CdCS with fetal ultrasound findings of cerebellar hypoplasia and peri-membranous ventricular septal defect (VSD), which are consistent with previous reports, as well as coarctation of the aorta and hypercoiling cord, which have never been described in CdCS before. Additionally, we performed an analytical literature review to identify the sonographic pattern facilitating prenatal diagnosis. Based on the review of 47 reported cases, most CdCS fetuses (87.2%) had ultrasound characteristics: cerebellar hypoplasia (29.8%), followed by cardiac abnormalities (19.1%), hydrops fetalis/fluid collection (17.0%), ventriculomegaly (14.9%), choroid plexus cyst (12.8%) and nasal bone hypoplasia (12.8%). Increased nuchal translucency/nuchal fold thickness was also common. This is the first study providing a fetal sonographic pattern of CdCS that may facilitate early diagnosis. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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8 pages, 16613 KiB

Open AccessCase Report

First-Trimester Diagnosis of Supernumerary Hemivertebra

by Roxana Elena Bohiltea, Ionita Ducu, Bianca Margareta Mihai, Ana-Maria Iordache, Vlad Dima, Emilia Maria Vladareanu, Nicolae Bacalbasa, Alexia-Teodora Bohiltea, Teodor Salmen and Valentin Varlas

Diagnostics 2022, 12(2), 373; https://doi.org/10.3390/diagnostics12020373 - 01 Feb 2022

Cited by 3 | Viewed by 5557

Abstract

Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often [...] Read more.

Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae. We describe a case of supernumerary lateral hemivertebra detected prenatally at 12 weeks of gestation and the ultrasonography specifics that lead to early and accurate diagnosis, monitoring during pregnancy, and follow-up at the 4-year period. The case is presented to specify the importance of an early assessment of fetal spine and diagnosis of various conditions, including hemivertebrae, considering the significant association with other anomalies (cardiovascular, urinary, skeletal, gastrointestinal, and central nervous systems), which are most commonly involved. Moreover, the need to counsel future parents on the risks implied by this anomaly is important for the obstetrician. We underline the inclusion of these types of congenital conditions in high-risk pregnancy because of the frequent association with high cesarean delivery rates, growth restriction, delivery before term, and higher morbidity rates. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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12 pages, 10438 KiB

Open AccessCase Report

Ultrasound Pitfalls in a Complex Fetal Cardiac Malformation—Case Report of a New Arteriovenous Central Communication

by Roxana Elena Bohîlțea, Adrian Dumitru, Radu Vlădăreanu, Liana Pleș, Tiberiu Augustin Georgescu, Ioan-Andrei Petrescu and Octavian Munteanu

Diagnostics 2021, 11(12), 2398; https://doi.org/10.3390/diagnostics11122398 - 20 Dec 2021

Cited by 1 | Viewed by 4298

Abstract

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by [...] Read more.

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by the specialist in a routine scan. Herein, we present a case of a 20-week-old fetus (from an apparently low-risk pregnancy) with complex cardiac and vascular abnormalities, including an arteriovenous malformation along with ventricular septal defect, ductal coarctation of the aorta, aneurysm of a brachiocephalic vein, and dilation of the entire neck and upper mediastinum venous system, and the limitations that were encountered in the process of diagnosis and management of the case. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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4 pages, 1341 KiB

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A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region

by Alexandra Bouariu, Ana Maria Scutelnicu, Anca Marina Ciobanu, Brîndușa Ana Cimpoca Raptis, Andreea Elena Dumitru, Florina Nedelea, Nicolae Gică and Anca Maria Panaitescu

Diagnostics 2021, 11(12), 2332; https://doi.org/10.3390/diagnostics11122332 - 11 Dec 2021

Cited by 3 | Viewed by 3066

Abstract

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a [...] Read more.

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion). Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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11 pages, 1042 KiB

Open AccessCase Report

In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review

by Bogdan Doroftei, Radu Maftei, Ovidiu-Dumitru Ilie, Theodora Armeanu, Maria Puiu, Iuliu Ivanov and Loredana Nemtanu

Diagnostics 2021, 11(12), 2328; https://doi.org/10.3390/diagnostics11122328 - 10 Dec 2021

Cited by 2 | Viewed by 2221

Abstract

Severe congenital myopathy with fatal cardiomyopathy (EOMFC) is a rare genetic neuromuscular disorder inherited in an autosomal recessive manner. Here we presented a successful pregnancy obtained by in vitro fertilization (IVF) using preimplantation genetic testing (PGT) in one young Romanian carrier couple that [...] Read more.

Severe congenital myopathy with fatal cardiomyopathy (EOMFC) is a rare genetic neuromuscular disorder inherited in an autosomal recessive manner. Here we presented a successful pregnancy obtained by in vitro fertilization (IVF) using preimplantation genetic testing (PGT) in one young Romanian carrier couple that already lost mutation(s) within the TNN gene and whose first baby passed away due to multiple complications. It was delivered via emergency C-section at 36 weeks and fully dependent on artificial ventilation for a couple of months, weighing 2200 g and an APGAR score of 3. The aCGH + SNP analysis revealed an abnormal profile of the first newborn; three areas associated with loss of heterozygosity on chromosome 1 (q25.1–q25.3) of 6115 kb, 5 (p15.2–p15.1) of 2589 kb and 8 (q11.21–q11.23) of 4830 kb, a duplication of 1104 kb on chromosome 10 in the position q11.22, and duplication of 1193 kb on chromosome 16 in the position p11.2p11.1. Subsequently, we proceeded to test the parents and showed that both parents are carriers; confirmed by Sanger and NGS sequencing—father—on Chr2(GRCh37):g.179396832_179396833del—TTN variant c.104509_104510del p.(Leu34837Glufs*12)—exon 358 and mother—on Chr2(GRCh37):g.179479653G>C—TTN variant c.48681C>G p.(Tyr16227*)—exon 260. Their first child died shortly after birth due to multiple organ failures, possessing both parent’s mutations; weighing 2200 g at birth and received an APGAR score of 3 following premature delivery via emergency C-section at 36 weeks. Two embryos were obtained following the IVF protocol; one possessed the mother’s mutation, and the other had no mutations and was normal (WT). In contrast with the first birth, the second one was uneventful. A healthy female baby weighing 2990 g was delivered by C-section at 38 weeks, receiving an APGAR score of 9. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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3 pages, 587 KiB

Open AccessInteresting Images

Early Ultrasound Identification of Cord Entanglement in Monochorionic Monoamniotic Twin Pregnancy

by Anca Maria Panaitescu, Nicolae Gică, Radu Botezatu, Brîndușa Cimpoca, Alina Veduță, Gheorghe Peltecu and Anca Marina Ciobanu

Diagnostics 2021, 11(3), 520; https://doi.org/10.3390/diagnostics11030520 - 15 Mar 2021

Cited by 1 | Viewed by 2013

Abstract

Monochorionic monoamniotic pregnancy are considered high risk gestations and the fetal outcome is at times unpredictable. Correct diagnosis and counselling are extremely important, especially regarding the risk of unexpected fetal demise. We present the rare case of a monochorionic monoamniotic twin pregnancy with [...] Read more.

Monochorionic monoamniotic pregnancy are considered high risk gestations and the fetal outcome is at times unpredictable. Correct diagnosis and counselling are extremely important, especially regarding the risk of unexpected fetal demise. We present the rare case of a monochorionic monoamniotic twin pregnancy with early identification of cord entanglement and the characteristic ultrasound findings in the first trimester of pregnancy. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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9 pages, 4008 KiB

Open AccessCase Report

Prenatal Sonographic Features of CHARGE Syndrome

by Kuntharee Traisrisilp, Wisit Chankhunaphas, Rekwan Sittiwangkul, Chureerat Phokaew, Vorasuk Shotelersuk and Theera Tongsong

Diagnostics 2021, 11(3), 415; https://doi.org/10.3390/diagnostics11030415 - 28 Feb 2021

Cited by 4 | Viewed by 2503

Abstract

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may [...] Read more.

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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