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Exploring the Potential of AI Language Models in Obstetrics with a Focus on Fetal Medicine: An Evaluation of the Perplexity AI Model. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-30 Angel Chimenea,Lutgardo García-Díaz,Guillermo Antiñolo
Artificial Intelligence (AI) language models, powered by natural language processing and pretrained language models, have demonstrated proficiency in natural language processing tasks, including text generation and understanding. These models can assist healthcare professionals in Fetal Medicine by providing comprehensive and accurate information, aiding in decision-making processes, and facilitating
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Prenatal ultrasound diagnosis of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome with persistent hyperplastic primary vitreous: a case report. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-26 Xiao-Rong Su,Bin Ma,Chuan Zhang,Tian-Gang Li,Bao-Long Han,Wen-Rui Wu,Fang Nie
INTRODUCTION Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterised by megalencephaly (i.e. overgrowth of the brain), polymicrogyria and focal hypoplasia of the cerebral cortex and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterised by the presence
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NEUROIMAGING FINDINGS IN FETAL HEMIMEGALENCEPHALY: CASE STUDY AND REVIEW. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-25 Waldo Sepulveda,Francisco Sepulveda,Valeria Schonstedt,Jocelyn Stern,Ricardo Diaz-Serani
BACKGROUND Limited information exists in the prenatal literature regarding the neuroimaging features of fetal hemimegalencephaly. SUMMARY This report describes ultrasound and magnetic resonance imaging (MRI) findings in a second-trimester fetus with an isolated, severe form of hemimegalencephaly. The most prominent imaging findings included unilateral enlarged cerebral hemisphere and ipsilateral ventriculomegaly
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Fetal echogenic bowel: what is real echogenicity? A quantitative method based on histogram analysis of the grayscale. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-23 Silvia Spinnato,Alessia De Biase,Caterina Maddalena Bilardo,Ayten Elvan-Taşpinar
INTRODUCTION The aim of this study was to use computerized analysis of the grayscale spectrum (histogram) to provide an objective assessment of the echogenicity of the fetal bowel. Moreover, we investigated the role of histogram analysis in the prenatal prediction of postnatal outcomes in fetuses with echogenic bowel (FEB). METHODS This is a single-center retrospective study including all fetuses with
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Role of cerebroplacental ratio in predicting the outcome of pregnancies complicated by diabetes. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-03 Federica Cardinali,Chiara Panunzi,Francesco D'Antonio,Asma Khalil,Arsenio Spinillo,Alessia Arossa,Alessandra Familiari,Giorgio Pagani,Serena Resta,Giuseppe Rizzo
INTRODUCTION Our objective was to evaluate the strength of association and diagnostic performance of cerebroplacental ratio (CPR) in predicting the outcome of pregnancies with pre- and gestational diabetes mellitus. METHODS Pubmed, Embase, Cochrane and Google Scholar databases were searched. Inclusion criteria were pregnancies with gestational or pre-gestational diabetes undergoing assessment of CPR
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Trisomy 22: First and second trimester cytogenetic analysis and phenotypic presentation in a series of seven cases. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-11-03 Chris Minella,Eric Jeandidier,Antoine Koch,Maria Cristina Antal,Romain Favre,Nicolas Sananes,Anne-Sophie Weingertner
INTRODUCTION Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22. CASE PRESENTATION We examine and described a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations
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The effect of maternal lower limb compression on amniotic fluid index, uteroplacental perfusion and fetal blood flow in isolated oligohydramnios. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-10-30 Inshirah Sgayer,Maya Frank Wolf,Susana Mustafa Mikhail,Lior Lowenstein,Marwan Odeh
INTRODUCTION The aim of this study was to examine the efficacy of pneumatic compression of the maternal lower extremities in increasing the amniotic fluid index (AFI) in pregnancies complicated by isolated oligohydramnios. METHODS Women with isolated oligohydramnios (AFI < 5 cm) at 32-41 weeks of pregnancy were connected to a sequential compression device for 60 minutes. Prior and after the application
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FETAL INGUINAL HERNIA - CASE REPORT AND REVIEW OF THE LITERATURE. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-10-25 Gad Liberty,Firas Shweiki,Adriana Nica,Eyal Y Anteby,Sarah M Cohen,Simcha Yagel
Fetal inguinal hernia (FIH) is a rare event, and only a few cases were published in the medical literature. In the present study, we aimed to characterize the sonographic features, clinical presentation, management, outcomes, and differential diagnoses of FIH. Accordingly, we reviewed all 17 cases of FIH published in the medical literature, including one new case evaluated by our group. All 17 cases
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Prenatal Risk Factors and Outcomes of Pseudoamniotic Band Sequence Following Fetoscopic Laser Surgery, Systematic Review and Meta-analysis. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-10-25 Hiba J Mustafa,Faezeh Aghajani,Deepak Verma,Mariya Asghar,Asma Khalil
INTRODUCTION To investigate prenatal risk factors and perinatal outcomes for pregnancies involving pseudoamniotic band sequence (PABS) after fetoscopic laser surgery (FLS) for twin-to-twin transfusion syndromes (TTTS) and compare outcomes between those undergoing fetoscopic band release vs. not. METHODS We conducted a systematic search of PubMed, Scopus, and Web of Science on studies reporting PABS
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Fetal anemia: Determinants and perinatal outcomes according to the method of intrauterine blood transfusion. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-10-09 Roopali Donepudi,Jean-Marie Jouannic,Emeline Maisonneuve,Nicolas Sananes,Celine Muller,M A Sánchez-Durán,Francisca Molina,Pilar Carretero,Eugenia Antolin,Inmaculada Duyos,Isabella Fabietti,Asma Khalil,Conrado M Coutinho,Haleh Sangi-Haghpeykar,Magdalena Sanz Cortes
INTRODUCTION Fetal anemia from hemolytic disease treated by intrauterine transfusion (IUT) can be performed by intraperitoneal, intracardiac and intravascular transfusion (IVT). Objective of our study was to compare different transfusion techniques. METHODS Retrospective review of IUT secondary to red cell alloimmunization at eight international centers from 2012-2020. Severe anemia suspected if middle
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PRENATAL FINDINGS IN POSNATAL CASES OF DISORDERS OF SEX DEVELOPMENT: EXPERIENCE FROM A TERTIARY SPECIALIZED CENTER IN BRAZIL. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-10-04 Kleber Andrade Cursino,Guilherme Mantelato Garcia,Beatriz Amstalden Barros,Tais Nitsch Mazzola,Helena Fabbri-Scallet,Mara Sanches Guaragna,Tarsis Antonio Paiva Vieira,Maricilda Palandi de Mello,Andrea Trevas Maciel-Guerra,Gil Guerra-Junior
OBJECTIVE The aim of this study was to review the prenatal findings of disorders of sex development (DSD) cases postnatally diagnosed in our tertiary referral center. METHODS We evaluated 57 DSD cases with sex ambiguity who had undergone prenatal ultrasound with phenotypic sex assessment and/or cell-free fetal DNA (cffDNA) for genotypic sex assessment. RESULTS Prenatal cffDNA had been performed in
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Identification of fetuses at increased risk of trisomies in the first trimester using axial planes. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-30 Elisa Montaguti,Josefina Diglio,Benedetta Petrachi,Viola Arosio,Marta Fiorentini,Marta Cavalera,Anita Pellegrino,Silvia Amodeo,Jacopo Lenzi,Gianluigi Pilu
INTRODUCTION the measurement of nuchal translucency is crucial for the assessment risk of aneuploidies in the first trimester. We investigate the ability of nuchal translucency (NT) assessed by a transverse view of the fetal head to detect fetuses at increased risk of common aneuploidies at 11-13 weeks of gestation. METHODS we enrolled a nonconsecutive series of women who attended our outpatient clinic
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Utility of the angle between the right aortic arch and first branch for detecting double aortic arch via fetal echocardiography. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-29 Masayoshi Mori,Yoichiro Ishii,Kunihiko Takahashi,Yuka Hayashida,Takuya Fujisaki,Kumiyo Matsuo,Dai Asada,Hisaaki Aoki,Futoshi Kayatani
INTRODUCTION The presence of a double aortic arch (DAA) is manifested by compressive symptoms, requiring surgery. DAA cases are classified as either complete or incomplete type. DAA and a right aortic arch with mirror image branching (mRAA) have a similar configuration of the first branch artery. The first branch of the mRAA is the left brachiocephalic artery, which appears to be the same as that of
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Lung hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight. Which Ultrasound Measurement/Ratio Has the Highest Detection Rate. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-29 Eran Ashwal,Jonathan Sgro,Patrick Shannon,Karen Chong,Phyllis Glanc,David Chitayat
Introduction To determine lung hypoplasia in cases with fetal skeletal dysplasia based on the total lung weight at autopsy as the most accountable surrogate marker for pulmonary hypoplasia. Methods This retrospective cohort study included all pregnancies with antenatal diagnosis of skeletal dysplasia(2012-2018). We included only cases in which information on fetal biometry was available within 2 weeks
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Diagnosis and management of two cases of spontaneous septostomy: monochorionic/dichorionic hybrid twin gestation and dichorionic triamniotic triplet gestation. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-26 Vanessa R Layoun,Roya Sohaey,Emily Edwards,Raphael C Sun,Andrew H Chon
INTRODUCTION Spontaneous septostomy is a rare complication of multiple gestations. Related complications include cord entanglement and preterm delivery. Limited data exists to guide management of these high-risk patients. The majority of spontaneous septostomy cases have been reported in monochorionic diamniotic twins. We present two cases of spontaneous septostomy occurring in a monochorionic/dichorionic
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New findings in the multidisciplinary management of a fetal intrapericardial teratoma: a case report. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-19 Marco Carosso,Andrea Roberto Carosso,Gianluca Bertschy,Simona Sdei,Luca Marozio,Andrea Sciarrone,Chiara Benedetto
Introduction Fetal intrapericardial teratoma is a rare tumor that can be diagnosed by antenatal ultrasonography early in pregnancy. Case presentation A fetal intrapericardial teratoma was detected on routine ultrasonography in the second trimester of pregnancy. At 31 weeks gestation a marked increase in tumor size, fetal ascites, and pericardial effusion were observed, indicating that preterm delivery
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Fetal thymus size at 19 to 22 weeks of gestation - a possible marker for the prediction of low birth weight? Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-09-15 Julia Maria Kim,Kathrin Oelmeier,Janina Braun,Kerstin Hammer,Johannes Steinhard,Helen Ann Köster,Raphael Koch,Walter Klockenbusch,Ralf Schmitz,Mareike Möllers
INTRODUCTION The purpose was to compare thymus size measured during second trimester screening of fetuses who were subsequently small for gestational age at birth (weight below 10th percentile, SGA group) with fetuses with normal birth weight (control group). We hypothesized that measuring the fetal thymic-thoracic ratio (TT ratio) might help predict low birth weight. METHODS Using three-vessel view
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Percutaneous versus Open Fetal Surgical Intervention for Sacrococcygeal Teratomas: Is Less Really More? Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-21 Alicia D Menchaca,Oluyinka O Olutoye,Darrell L Cass,Ahmed I Marwan
INTRODUCTION Sacrococcygeal teratomas (SCTs) may require in utero intervention for survival. Open surgical intervention (OSI) was first described, but increasing reports of percutaneous intervention (PI) with variable indications and outcomes exist. We reviewed the literature for all published cases of fetal SCT intervention and compared OSI to PI cohorts. METHODS A keyword search of PubMed was conducted
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Automatic deep learning-based pipeline for automatic delineation and measurement of fetal brain structures in routine mid-trimester ultrasound images. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-11 David Coronado-Gutiérrez,Elisenda Eixarch,Elena Monterde,Isabel Matas,Paola Traversi,Eduard Gratacos,Elisenda Bonet-Carne,Xavier P Burgos-Artizzu
INTRODUCTION The aim of this study was to develop a pipeline using state-of-the-art deep learning methods to automatically delineate and measure several of the most important brain structures in fetal brain ultrasound images. METHODS The dataset was composed of 5,331 images of fetal brain acquired during the routine mid-trimester ultrasound scan. Our proposed pipeline automatically performs the following
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The effect of resolution level and targeted design in the diagnostic performance of prenatal chromosomal microarray analysis. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-07 Elena Papageorgiou,Apostolos Athanasiadis,Stiliani Fidani,Ioannis Papoulidis,Emmanouil Manolakos,Elissavet Siomou,Christos Chatzakis,Alexandros Sotiriadis
Introduction This study was performed to assess the optimal resolution for prenatal testing by array comparative genomic hybridization (aCGH), aiming to balance between maximum diagnostic yield and minimal detection of variants of unknown significance (VOUS). Methods This was a prospective study using data of 2336 fetuses that underwent invasive prenatal diagnosis and the samples were analyzed by aCGH
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Prenatal Spina Bifida Repair: Defendable trespassing of MOMS criteria results in commendable personalized medicine. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-04 Ueli Moehrlen,Nicole Ochsenbein-Kölble,Sarah Stricker,Theres Moehrlen,Luca Mazzone,Franziska Krähenmann,Ladina Vonzun,Roland Zimmermann,,Martin Meuli
Introduction We hypothesize that after publication of the quintessence of the MOMS-Trial, eligibility criteria for prenatal spina bifida repair may be modified if a tenable argumentation underlies this decision. Methods Our first 154 fetal surgery patients were analyzed with particular focus on how many, which, and why the original eligibility criteria, set forth by the MOMS Trial Protocol, were disobeyed
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Fetal laryngoscopy and Endoscopic Tracheal Intubation (FETI) to avoid ex-utero intrapartum treatment (EXIT) in the management of fetuses with suspected airway obstruction. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-04 Rogelio Cruz-Martínez,Savino Gil-Pugliese,Rosa Villalobos-Gómez,Miguel Martínez-Rodríguez,Alejandra Márquez-Dávila,Hugo López-Briones,Eréndira Chávez-González,Antonio Méndez-González,Hugo Pineda-Alemán,Carlos Rebolledo-Fernández,Ernesto Barrios-Prieto,Sergio Fajardo-Dueñas
INTRODUCTION Large congenital neck tumors can cause neonatal death due to airway obstruction. The aim of this study was to report outcomes of the first cohort of fetuses with neck masses and suspected airway obstruction managed with fetal laryngoscopy (FL) and fetal endoscopic tracheal intubation (FETI) to secure fetal airways and avoid ex-utero intrapartum treatment (EXIT) procedure. METHODS A prospective
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THE MANAGEMENT OF ACARDIAC TWINNING - TRAP SEQUENCE: AN INTERNATIONAL SURVEY. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-08-03 Saulo Molina-Giraldo,Natalia Torres Valencia,Anthony Johnson,Liesbeth Lewi,Greg Ryan,Waldo Sepulveda
INTRODUCTION The optimal approach and therapy method for the acardiac twin with a reverse arterial perfusion sequence has not yet been established. The aim of this study is to determine the clinical practice patterns amongst international fetal therapy units in their management of these cases. METHODS A survey was sent to fetal centers across the world via email between December 2020 and December 2021
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Management of late twin-to-twin transfusion syndrome beyond 26 weeks: comparison between fetoscopic laser therapy vs. traditional management. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-29 Rogelio Cruz-Martínez,Savino Gil-Pugliese,Juan Manuel Enciso-Meraz,Rosa Villalobos-Gómez,Hugo López-Briones,Miguel Martínez-Rodríguez,Ma de la Luz Bermúdez-Rojas,Virginia Medina-Jiménez,Fausto Coronel-Cruz,Hugo Pineda-Alemán,Maritza García-Espinosa,Antonio Helue-Mena,Alejandra Márquez-Dávila,Iván Gutiérrez-Gómez,Eréndira Chávez-González,Carlos Rebolledo-Fernández
INTRODUCTION A proportion of monochorionic diamniotic (MCDA) twin pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) can present after 26 weeks of gestation. The aim of this study was to compare perinatal outcomes of late TTTS treated by fetoscopic laser coagulation (FLC) vs. traditional management with amniodrainage and/or emergency preterm cesarean delivery (CD). METHODS Retrospective
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MYOCARDIAL FUNCTION IN FETUSES WITH CONGENITAL CYTOMEGALOVIRUS INFECTION. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-29 Veronica Giorgione,Karina Krajden Haratz,Ilan Gull,Michael Brusilov,Roee Birnbaum,Yair Blecher,Gustavo Malinger,Alon Kaplan,Gil Beer,Livia Kapusta
INTRODUCTION To investigate myocardial deformation of left (LV) and right ventricle (RV) using 2-dimensional speckle-tracking echocardiography (2D-STE) in fetuses with and without congenital cytomegalovirus (CMV) infection. METHODS This was a prospective single-centre study. Vertical transmission was defined by a positive CMV polymerase chain reaction (PCR) test on the amniotic fluid or on the neonate's
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Use of polynomial reference ranges for atrioventricular intervals assessed by fetal echocardiography in anti-Ro/SSA antibody positive pregnancies to exclude fetal heart blocks - a pilot study. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-27 Beatrice Mosimann,Sofia Amylidi-Mohr,Daniel Surbek,Frauke Förger,Luigi Raio
Introduction Maternal anti-Ro/SSA antibodies can cause fetal atrioventricular blocks (AVB). This pilot study aims to apply previously published echocardiographic reference ranges of the fetal AV intervals in the setting of anti-Ro/SSA antibody positive pregnancies in order to exclude a 1° AVB. Materials and Methods Between January 2018 and September 2022 we included all women with known anti-Ro/SSA
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Implementing preeclampsia screening in Switzerland (IPSISS) - first results from a multicentre registry. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-24 Fabienne Trottmann,Pauline Challande,Gwendolin Manegold-Brauer,Sara Ardabili,Irene Hösli,Heidrun Schönberger,Sofia Amylidi-Mohr,Joachim Kohl,Markus Hodel,Daniel Surbek,Luigi Raio,Beatrice Mosimann
Introduction The Fetal Medicine Foundation(FMF) London developed a first trimester combined screening algorithm for preterm preeclampsia(pPE) that allows a significantly higher detection of pregnancies at risk compared to conventional screening by maternal risk factors only. The aim of this trial is to validate this screening model in the Swiss population in order to implement this screening into routine
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Anti-SARS-CoV2 IgG are present in the amniotic fluid of both infected and vaccinated women at second trimester of pregnancy: a cohort study. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-11 Laura La Fauci,Riccardo Cavaliere,Paola Romeo,Angela Alibrandi,Guido Ferlazzo,Rosario D'Anna,Francesco Corrado
INTRODUCTION Thanks to SARS-CoV-2 vaccination, pregnant women are protected from the complications of COVID-19 infection. The benefit of this vaccination to prevent morbidity and mortality in the fetus, has not yet been completely elucidated. Our aim is to test the presence of anti-SARS-CoV-2 antibodies in the amniotic fluid during the second trimester of pregnancy and then to compare them to the antibody
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Evolution and Variations of the Ovine Model of Spina Bifida. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-07-01 Su Yeon Lee,Yimeng Du,Abd-Elrahman Said Hassan,Erin Brown,Payam Saadai,Shinjiro Hirose,Aijun Wang,Diana L Farmer
Spina bifida is the most common congenital anomaly of the central nervous system and the first non-fatal fetal lesions to be addressed by fetal intervention. While research in spina bifida has been performed in rodent, non-human primate and canine models, sheep have been a model organism for the disease. This review summarizes the history of development of the ovine model of spina bifida, previous
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Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-30 Renata Jaczyńska,Monika Bekiesinska-Figatowska,Paulina Sobieraj,Tadeusz Issat,Monika Gos,Ewa Obersztyn
INTRODUCTION Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical
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Terminating Routine Cord Blood RhD Typing of the Newborns to Guide Postnatal Anti-D Immunoglobulin Prophylaxis Based on the Results of Fetal RHD Genotyping. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-28 Monica Stensrud,Mette Silihagen Bævre,Inger Margit Alm,Ho Yi Wong,Ida Herud,Barbora Jacobsen,Dijanne Dicky Jannie Anne de Vos,Helena Eriksson Stjern,Ingvild Hausberg Sørvoll,Janne Brit Barane,Tonje Espeland Bagås,Mona Rasmussen,Norunn Ulvahaug,Vendula Wamstad,Geir Tomter,Cigdem Akalin Akkök
INTRODUCTION Targeted routine antenatal prophylaxis with anti-D immunoglobulin (Ig) only to RhD-negative pregnant women who carry RhD-positive fetuses (determined by fetal RHD genotyping) has reduced D-alloimmunization significantly when administered in addition to postnatal prophylaxis. Achieving high analysis sensitivity and few false-negative fetal RHD results will make RhD typing of the newborn
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Three-Dimensional Ultrasound Evaluation of Lung Volume in Fetuses with Abdominal Wall Defect. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-28 Estela Naomi Nishie,Gilmar de Souza Osmundo Junior,Samirah Hosney Mahmoud Mohamed,Ana Cristina Aoun Tannuri,Maria Augusta Bento Cicaroni Gibelli,Werther Brunow de Carvalho,Stela Verzinhasse Peres,Rossana Pulcineli Vieira Francisco,Maria de Lourdes Brizot
INTRODUCTION Abdominal wall defects (AWDs) interfere with postnatal respiratory parameters. We aimed to evaluate lung volume (LV) in fetuses with AWD using three-dimensional (3D) ultrasound (US) and to correlate AWD with the type (omphalocele and gastroschisis) and size of the defect and neonatal morbidity and mortality. METHODS This prospective observational study included 72 pregnant women with fetuses
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A Novel VACTERL Assessment Tool to Facilitate Counseling for Expectant Families. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-20 John S Riley,John Schomberg,Aditya Mantha,Yigit S Guner,Amy Cuevas,Courtney D Stephenson,William H Peranteau,Peter T Yu
INTRODUCTION VACTERL is defined as 3 or more of the following congenital defects: vertebral, anorectal, cardiac, tracheoesophageal (TE), renal, and limb. The purpose of this study was to create an easy-to-use assessment tool to help providers counsel expecting families regarding the likelihood of additional anomalies and postnatal outcomes. METHODS Employing the Kids' Inpatient Database from 2003-2016
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Indications, Resource Allocation, and Outcomes Associated with Ex-Utero Intrapartum Treatment Procedures: A North American Fetal Therapy Network Survey. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-20 Devashish Joshi,Michael Stellon,Kathleen Antony,Michael Beninati,Francois I Luks,Michael Puricelli,Inna Neyman Lobeck
INTRODUCTION Neonates with cardiorespiratory compromise at delivery are at substantial risk of hypoxic neurologic injury and death. Though mitigation strategies such as ex-utero intrapartum treatment (EXIT) exist, the competing interests of neonatal beneficence, maternal non-maleficence, and just distribution of resources require consideration. Due to the rarity of these entities, there are few systematic
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Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-17 Malou A Lugthart,Elvire Verbaarschot,Amber E L van Nisselrooij,Karline van de Kamp,Emily Kleinrouweler,Monique C Haak,Lieke Rozendaal,Ingeborg Linskens,Jarda Hruda,Rosalinde J M Snijders,Elisabeth van Leeuwen,Sally-Ann Clur,Eva Pajkrt
INTRODUCTION Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated
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"We All Want to Be Able to Tell You Something Hopeful": Clinicians' Experiences Providing Maternal-Fetal Surgery Counseling. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-14 Abigail Wilpers,Erica Goldblatt Hyatt,Mert Ozan Bahtiyar,Yunzhe Hu,Daisy Leon-Martinez,Frank A Chervenak,Judith L M McCoyd
INTRODUCTION Prenatal counseling about maternal-fetal surgery can be traumatic and confusing for pregnant people. It can also be technically and emotionally complex for clinicians. As maternal-fetal surgery rapidly advances and becomes more common, more evidence is needed to inform counseling practices. The objective of this study was to develop a deeper understanding of the methods clinicians currently
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Fetal Growth Velocity according to the Mode of Assisted Conception. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-12 Javier Caradeux,Francisco Ávila,Francisco Vargas,Benjamín Fernández,Carolina Winkler,Mauricio Mondión,Iván Rojas,Francesc Figueras
INTRODUCTION Pregnancies conceived through assisted reproductive techniques (ARTs) are on the rise worldwide and have been associated with a higher risk of placental-related disease in the third trimester. METHODS A cohort was created of singleton pregnancies after assisted reproduction, admitted at our institution for delivery, between January 2020 and August 2022. Fetal growth velocity from the second
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Does prediction of neonatal mortality by the observed / expected lung-to-head ratio change during pregnancy in fetuses with left congenital diaphragmatic hernia? Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-07 Erin S Huntley,Edgar Hernandez-Andrade,Michal Fishel Bartal,Ramesha Papanna,Eric P Bergh,Suzanne Lopez,Eleazar Soto,Matthew T Harting,Anthony Johnson
AIM to evaluate prediction of neonatal mortality in fetuses with isolated left congenital diaphragmatic hernia (CDH) when the observed/expected lung-to-head ratio (O/E LHR) was estimated at two different gestational time points during pregnancy. METHODS Forty-four (44) fetuses with isolated left CDH were included. O/E LHR was estimated at the time of referral (first scan) and before delivery (last
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Factors Associated with Hospital Readmission One Year Post-Discharge in Infants with Gastroschisis. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-07 John P Marquart,Devashis Mukherjee,Bethany N Canales,Katherine T Flynn-O'Brien,Aniko Szabo,Amy J Wagner
INTRODUCTION Gastroschisis is the most common congenital abdominal wall defect with a rising prevalence. Infants with gastroschisis are at risk for multiple complications, leading to a potential increased risk for hospital readmission after discharge. We aimed to find the frequency and factors associated with an increased risk of readmission. METHODS A retrospective analysis of infants born with gastroschisis
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Intertwin Membrane Perforation and Umbilical Cord Entanglement after Laser Surgery for Twin-Twin Transfusion Syndrome: Prevalence, Risk Factors, and Outcome. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-07 Patricia J C Knijnenburg,Femke Slaghekke,Chinar Rahmattulla,Yuchun Ge,Irene M Scholl,Jeanine M M van Klink,Monique C Haak,Johanna M Middeldorp,Luming Sun,Enrico Lopriore
INTRODUCTION Perforation of the intertwin membrane can occur as a complication of fetoscopic laser surgery for twin-twin transfusion syndrome (TTTS). Data on the occurrence and the risk of subsequent cord entanglement are limited. The objective of this study was to assess the prevalence, risk factors and outcome of intertwin membrane perforation, and cord entanglement after laser surgery for TTTS.
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Impact of Transfer of Maternal Care for Fetal Anomalies on Maternal Depression and Anxiety Screening: A Prospective Cohort at a Tertiary Care Center. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-06-05 Cara Buskmiller,Lauren A Greenwood,Linda A Alpuing Radilla,Keneshia Lane,Lauren L Gray,R Todd Ivey,Matthew R Carrol,Jessian L Munoz,Magdalena Sanz Cortes,Ahmed A Nassr,Michael A Belfort,Karen Horst,Roopali V Donepudi
INTRODUCTION Perinatal depression and anxiety are major causes of maternal morbidity, and are more common in high-risk pregnancies compared to low-risk pregnancies. This study used validated screening tools to assess the prevalence of depression and anxiety symptoms in pregnant patients who transferred their obstetric care to a specialized fetal center for fetal anomaly. METHODS This is a prospective
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Intrauterine Blood Transfusion for Parvo B19-Induced Fetal Anemia: Neuroimaging Findings and Long-Term Neurological Outcomes. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-05-17 Alexandra Berezowsky,Alyssa Hochberg,Noam Regev,Boaz Weisz,Shlomo Lipitz,Yoav Yinon
INTRODUCTION We aimed to evaluate the neuroimaging findings and long-term neurodevelopmental outcomes of fetuses and children following intrauterine blood transfusion (IUT) for parvo B19 infection-induced anemia compared to those with RBC alloimmunization. METHODS We conducted a retrospective cohort study including women who underwent an IUT due to fetal anemia between 2006 and 2019 in a tertiary,
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Cerebral Lateral Ventricular Asymmetry: Normal Variant or an Indicator of Underlying Pathology. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-05-16 Chusana Petpichetchian,Lucia Carpineta,Richard Brown
INTRODUCTION Isolated lateral ventricular asymmetry has been associated with a favorable prognosis; however, prenatal evaluations in existing studies have been conducted using ultrasonography (US). This study aimed to describe the magnetic resonance imaging (MRI) findings, progression of ventricular asymmetry, and perinatal outcomes in fetuses prenatally diagnosed with isolated ventricular asymmetry
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Tissue Glue-Based Sealing Patch for the in vivo Prevention of Iatrogenic Prelabor Preterm Rupture of Fetal Membranes. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-05-12 Yannick R Devaud,Eva Avilla-Royo,Leonardo Lionetti,Helena Tronnier,Frauke Seehusen,Josep M Monné Rodriguez,Ueli Moehrlen,Miriam Weisskopf,Ladina Vonzun,Nele Strübing,Nicole Ochsenbein-Kölble,Martin Ehrbar
INTRODUCTION One of the main concerns for all fetal surgeries is the risk of preterm delivery due to the preterm prelabor rupture of the fetal membranes (iPPROM). Clinical approaches to seal fetal membrane (FM) defects are missing due to the lack of appropriate strategies to apply sealing biomaterials at the defect site. METHODS Here, we test the performance of a previously developed strategy to seal
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Further Evidence that an Episode of Premature Labor Is a Pathologic State: Involvement of the Insulin-Like Growth Factor System. Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-05-10 Priya Prasad,Roberto Romero,Tinnakorn Chaiworapongsa,Nardhy Gomez-Lopez,Anderson Lo,Jose Galaz,Andreea B Taran,Eunjung Jung,Francesca Gotsch,Nandor Gabor Than,Adi L Tarca
INTRODUCTION Approximately 47% of women with an episode of preterm labor deliver at term; however, their infants are at greater risk of being small for gestational age and for neurodevelopmental disorders. In these cases, a pathologic insult may disrupt the homeostatic responses sustaining pregnancy. We tested the hypothesis of an involvement of components of the insulin-like growth factor (IGF) system
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Perioperative maternal fetal outcomes in the setting of minimally invasive fetal therapy for complex monochorionic pregnancies with monitored anesthesia care Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-24 Olivia Nelson, Nahla Khalek, Lezhou Wu, Meryl S. William, Brittany Wohler, Elaina E. Lin, Kha M. Tran, Allan F. Simpao
Introduction Fetoscopic selective laser photocoagulation (FSLPC) and selective cord occlusion with radiofrequency ablation (RFA) can improve fetal outcomes when vascular anastomoses between fetuses cause twin to twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) in multiple gestation pregnancies with monochorionic placentation. This study analyzed perioperative maternal fetal
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Prenatal Rupture of Hydrocolpos in a Cloacal Malformation Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-21 Su Yeon Lee, Jordan E Jackson, Abd-Elrahman Said Hassan, Eric A Kurzrock, Amelia McLennan, Shinjiro Hirose, Payam Saadai
Introduction: Cloacal dysgenesis occurs from failure of embryological division of urogenital sinus and hindgut, leading to a single common perineal opening for genitourinary and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in
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Increased risk of retinopathy of prematurity in donors with twin-to-twin transfusion syndrome: a cohort study Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-19 Salma El Emrani, Sophie G. Groene, Jip A. Spekman, Femke Slaghekke, Lotte E. van der Meeren, Nicoline E. Schalij-Delfos, Enrico Lopriore
Introduction: The purpose of this study was to evaluate the within-pair difference in retinopathy of prematurity (ROP) between donors and recipients with twin-to-twin transfusion syndrome (TTTS) and to identify risk factors for ROP development. Methods: This retrospective cohort study included 147 TTTS twin pairs managed between 2002-2022 and eligible for ROP screening. Primary outcomes were any stage
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Prenatal diagnosis of Gómez-López-Hernández syndrome Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-14 Leo Pomar, Wawrzyniec Rieder, Estelle Dubruc, Fabienne Giuliano, Isis Atallah, Sébastien Lebon, Yvan Vial
Introduction: Gomez-Lopez-Hernandez Syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia is an extremely rare neuro-cutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supra-tentorial anomalies, as
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Characterization of suboptimal responses to fetoscopic endoluminal tracheal occlusion in congenital diaphragmatic hernia Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-11 Jimmy Espinoza, Alice King, Alireza A. Shamshirsaz, Ahmed A. Nassr, Roopali Donepudi, Magdalena Sanz Cortes, Amy R. Meholin-Ray, Eyal Krispin, Rebecca Johnson, Yamely Mendez Martinez, Sundeep G. Keswani, Timothy C. Lee, Luc Joyeux, Andres F. Espinoza, Oluyinka Olutoye II, Joseph A. Garcia-Prats, Caraciolo J. Fernandes, Ryan D. Coleman, Pablo Lohmann, Christopher J. Rhee, Jonathan Davies, Michael A
Introduction: To characterize the changes in fetal lung volume following endoluminal tracheal occlusion (FETO) that are associated with infant survival and need for extracorporeal membrane oxygenation (ECMO) in congenital diaphragmatic hernia (CDH). Methods: Fetuses with CDH who underwent FETO at a single institution were included. CDH cases were reclassified by MRI metrics, [observed-to-expected total
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Quincke versus diamond-tip needles for entry in placental laser surgery for twin-to-twin transfusion syndrome Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-10 Madushka Y De Zoysa, Clifton O Brock, Eric P. Bergh, Anthony Johnson, Edgar Hernandez-Andrade, Anthony Nobles, Ramesha M. Papanna
\ Introduction: Chorioamnion separation (CAS), preterm prelabor rupture of membranes (PPROM), and preterm delivery (PTD) remain major complications of fetoscopic laser photocoagulation (FLP) for twin-to-twin transfusion syndrome (TTTS). We sought to examine whether use of quincke-tip needles for initial entry in FLP reduces the risk of these complications. Methods: This is a secondary analysis of prospectively
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Role of Fetal MRI in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-04-04 Waldo Sepulveda, Francisco Sepulveda, Angela C. Ranzini
Introduction: The detection of absent septi pellucidi (ASP) during obstetric ultrasound is a rare event. However, the clinical implications of this finding are significant. ASP can be associated with severe central nervous system anomalies such as holoprosencephaly, agenesis/dysgenesis of the corpus callosum, schizencephaly, severe ventriculomegaly and open neural tube defects. In such cases, the prognosis
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Prenatal cystic fibrosis transmembrane conductance regulator modulator therapy: A promising way to change the impact of cystic fibrosis Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-30 Enery Gómez-Montes, Enrique Salcedo Lobato, Alberto Galindo, Diana García Alcázar, Cecilia Villalain, Maria Teresa Moral-Pumarega, Gerardo Bustos Lozano, Carmen Luna-Paredes
Introduction: Cystic fibrosis (CF) is a potentially severe disease. The development of new therapies with cystic fibrosis transmembrane conductance regulator (CFTR) modulators has been a great advance in the management of this condition because they improve the function of the faulty CFTR protein rather than palliate its consequences. CFTR modulator therapy improves pancreatic and lung function and
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PARENTAL PSYCHOLOGICAL DISTRESS OF MISSED DIAGNOSIS OF DOWN SYNDROME AT ANTENATAL SCREENING: A RARE, BUT STILL REAL OCCURRENCE. A CASE REPORT AND REVIEW OF LITERATURE Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-25 Pasquale Giuseppe Macri, Valentina Tosto, Valentina Tsibizova, Arun Meyyazhagan, Gian Carlo Di Renzo
Introduction Prenatal screening programs are important component for pregnant women care and is often linked with grief and shock based on gestational age or the diagnosis. Lower/ no sensitivity is also associated with these screening programs leading to providing false negative outputs. Case Presentation Present work shows a case of missed antenatal diagnosis of Down syndrome and its persistant medical
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Poor Correlation between Fetal Tissue Doppler Imaging and Pulsed Wave Myocardial Performance Indices Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-22 Hagai Avnet, Samantha Thomas, Geraldene Beirne, Jennifer Alphonse, Alec Welsh
Introduction: Both Tissue Doppler Imaging (TDI) and Pulsed Wave Doppler (PWD) Myocardial Performance Indices (MPI) have been proposed as tools for functional fetal cardiology. We wished to determine if there was any correlation between TDI MPI and PWD MPI. Methods: A cohort of uncomplicated women with morphologically normal singleton fetuses between 22 and 39 weeks gestation were recruited. A single
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Prenatal diagnosis of Skeletal Dysplasias: What can CT do for you? Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-22 Elizabeth J. Snyder, Julie S. Moldenhauer, Teresa Victoria
Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis of a specific SD remains challenging. Molecular genetic diagnosis involves invasive testing, which some patients are not amenable to. Further, genetic analysis is
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Outcomes in elective compared to non-elective fetal reduction by radiofrequency ablation in monochorionic multifetal pregnancies Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-16
Introduction Higher-order fetal gestation is associated with adverse pregnancy outcomes, and monochorionic (MC) pregnancies have unique complications. Multifetal pregnancy reduction (MPR) by radiofrequency ablation may be used to optimize the outcomes of a single fetus. The purpose of this study was to determine whether pregnancy outcomes differ for elective reduction compared to reduction for medically-complicated
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Subjective and objective sonographic assessment for the prenatal detection of neonatal coarctation of the aorta Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-03-07 Angel Lee, Maya Reddy, Monica Chai, Idoia Grange Sobe, Elys Green, Daniel L Rolnik, Srinidhi J V Rao, Mark Teoh
Introduction/Objective: To assess the performance of antenatal ultrasound markers in detecting neonatal coarctation of the aorta (CoA). Methods: We performed a retrospective study including fetuses with suspected CoA and no other cardiac abnormalities. Data obtained from antenatal ultrasounds included subjective assessment of ventricular and arterial asymmetry, appearance of aortic arch, presence of
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Imaging factors affecting prenatal counselling in orofacial clefts Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-02-28 Anne-Laure Hermann, Veronique Soupre, Saskia Vande Perre, Lucie Guilbaud, Genevieve Quenum-Miraillet, Eléonore Blondiaux, Arnaud Picard, Jean-Marie Jouannic, Ferdinand Dhombres, Catherine Garel
Introduction: we aim to correlate pre-and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. Methods: retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcome. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings
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Acknowledgement to the Reviewers Fetal. Diagn. Ther. (IF 2.2) Pub Date : 2023-02-23
Fetal Diagn Ther 2022;49:536–537