Steven T Papastefan, Daniel R Liesman, Katherine C Ott, Federico Scorletti, Xavier F Pombar, Aimen F Shaaban, Amir M Alhajjat
INTRODUCTION: Fetal thoracoamniotic shunts are common lifesaving interventions but frequently require replacement. Needle fetal thoracoscopy is a technique that uses standard thoracoamniotic shunt introducer sheaths to permit direct visualization and even instrument manipulation during shunt deployment to facilitate optimal positioning and primary shunt function in the most challenging cases. CASE PRESENTATION: In this study, five patients who underwent needle fetal thoracoscopy-assisted thoracoamniotic shunt placement were reviewed...
May 13, 2024: Fetal Diagnosis and Therapy
Leticia Benítez, Sara Castro-Barquero, Fàtima Crispi, Lina Youssef, Francesca Crovetto, Ute Fischer, Ersen Kameri, Clara Bueno, Mireia Camos, Pablo Menéndez, Merja Heinäniemi, Arndt Borkhardt, Eduard Gratacós
Acute leukemia is the most common pediatric cancer, with an incidence peak at 2-5 years of age. Despite the medical advances improving survival rates, children suffer from significant side-effects of treatments as well as its high social and economic impact. The frequent prenatal origin of this developmental disease follows the two-hit carcinogenesis model established in the 70s: a first hit in prenatal life with the creation of genetic fusion lesions or aneuploidy in hematopoietic progenitor/stem cells, and usually a second hit in pediatric age that converts the preleukemic clone into clinical leukemia...
May 6, 2024: Fetal Diagnosis and Therapy
Laura Colicchia, Saul Snowise, Whitney L Wunderlich, Jessica R Taghon, Anna K Schulte, Abbey C Sidebottom
INTRODUCTION: To explore patients' perspectives on diagnosis and treatment options for complicated monochorionic multiple gestations, and experiences with fetoscopic laser photocoagulation. METHODS: This is a prospective cohort study of patients undergoing laser photocoagulation. Participants were interviewed during pregnancy and the postpartum period. Qualitative analysis was performed. RESULT: 27 patients who were candidates for laser photocoagulation were included...
April 26, 2024: Fetal Diagnosis and Therapy
Stephanie A Eyerly-Webb, Lisa Howley, Clifton O Brock, Joseph B Lillegard, James Fisher, Benjamin Reynolds, Emily F Barthel, Eric Dion, Saul Snowise
INTRODUCTION: No evidence-based protocols exist for fetal cardiac monitoring during fetoscopic myelomeningocele (fMMC) repair and intraprocedural spectral Doppler data is limited. We determined the feasibility of continuous fetal echocardiography during fMMC repair and correlated Doppler changes with qualitative fetal cardiac function during each phase of fMMC repair. METHODS: Patients undergoing fMMC repair had continuous fetal echocardiography interpreted in real-time by pediatric cardiology...
April 20, 2024: Fetal Diagnosis and Therapy
Lorena María Sebastián de Lucas, Polán Ordás Álvarez, Laura de Castro Marzo, Tamara Illescas Molina, Beatriz Herrero, José Luis Bartha, Eugenia Antolín
INTRODUCTION: Non-immune hydrops fetalis (NIHF) is the most frequent etiology of hydrops fetalis (HF), accounting for around 95% of cases. It associates high perinatal mortality and morbidity rates. The aim of the study was firstly, to investigate etiology, prenatal management, and perinatal outcome in a large single center series of HF; secondly, to identify prenatal prognostic factors with impact on perinatal outcome. MATERIAL AND METHODS: Observational retrospective study of 80 HF diagnosed or referred to a single tertiary center between 2012 and 2021...
April 20, 2024: Fetal Diagnosis and Therapy
Qiu-Xia Yu, Li Zhen, Dong-Zhi Li
Introduction CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. Case Presentation This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise (IUFD) at 16 weeks gestation...
April 17, 2024: Fetal Diagnosis and Therapy
Aaron Anthony Phillips, Rajesh Punn, Claudia Algaze, Yair J Blumenfeld, Valerie Y Chock, David M Kwiatokowski, Amy Quirin, Theresa A Tacy, Kelly Thorson, Shiraz A Maskatia
INTRODUCTION: Neonatal presentation of coarctation of the aorta (CoA) is a potentially life-threatening condition that is difficult to diagnose in fetal life. We therefore sought to validate and compare novel metrics that may add diagnostic value for fetal coarctation of the aorta, including the diastolic to systolic aortic isthmus VTI ratio (VTId:VTIs), ascending aorta to descending aorta angle (AAo-DAo), transverse aorta to descending aorta angle (TAo-DAo), and LV longitudinal strain (LVS)...
April 15, 2024: Fetal Diagnosis and Therapy
Julia Zepf, Ladina Vonzun, Ladina Rüegg, Nele Strübing, Franziska Krähenmann, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Theres Moehrlen, Lukas Kandler, Nicole Ochsenbein-Kölble
INTRODUCTION: In fetal surgery, successful pain management is crucial for postoperative mobilization, prophylaxis of contractions, and fast recovery. This study analyzed patient's pain experience after open fetal spina bifida (fSB) repair in comparison to pain scores after the subsequent Caesarean section (C-section). MATERIALS AND METHODS: Data was collected with a questionnaire given to 91 women, who had fSB repair and then C-section at our center between 2019 and 2022...
April 3, 2024: Fetal Diagnosis and Therapy
Emma L Ross, Cristina L Wood, Michael F Wempe
INTRODUCTION: To evaluate chemical stability and physical compatibility when combining fentanyl, rocuronium, and atropine in a fixed ratio to support intramuscular drug delivery during fetal intervention and surgery. METHODS: A highly concentrated combination of fentanyl, rocuronium, and atropine was created based on common prescribing practices at a maternal fetal care center. Chemical stability testing was completed using liquid chromatograph mass spectrometry-mass spectrometry (LC/MS-MS) to detect and quantitate atropine, rocuronium, and fentanyl, with fentanyl-d5 being an internal standard at 6-, 12, 24-, and 36-hours following sample preparation...
March 30, 2024: Fetal Diagnosis and Therapy
Timothy M Crombleholme, Jennifer D Smith, Reenu Eapen, Maythem Al-Kubaisi, Kevin Magee
INTRODUCTION: Unilateral congenital high airway obstruction syndrome (CHAOS) is caused by a complete obstruction of a mainstem bronchus with resulting hyperinflation and accelerated growth of one lung, severe mediastinal shift and hydrops. Spontaneous perforation of the atresia has been observed in CHAOS which allows hydrops to resolve but hyperinflation, mediastinal shift and a critical airway obstruction persists as the perforation is usually pinhole-sized. CASE PRESENTATION: We present a case of unilateral CHAOS presenting at 26 2/7 weeks' with observed-to-expected total lung volume (O/E TLV) of 203% with spontaneous perforation occurring at 28 weeks' with resolution of hydrops but persistence of hyperinflation and mediastinal shift with an O/E TLV of 60...
March 27, 2024: Fetal Diagnosis and Therapy
K Taylor Wild, Natalie Rintoul, Holly L Hedrick, Lauren Heimall, Leane Soorikian, Elizabeth E Foglia, Anne M Ades, Heidi M Herrick
INTRODUCTION: Delivery room (DR) interventions for infants with congenital diaphragmatic hernia (CDH) are not well described. This study sought to describe timing and order of DR interventions and identify system factors impacting CDH DR resuscitations using a human factors framework. METHODS: Single center observational study of video recorded CDH DR resuscitations documenting timing and order of interventions. The team used the Systems Engineering Initiative for Patient Safety (SEIPS) model to identify system factors impacting DR resuscitations and time to invasive ventilation...
March 26, 2024: Fetal Diagnosis and Therapy
Emma Umans, Kobe Dewilde, Helena Williams, Jan Deprest, Thierry Van den Bosch
INTRODUCTION: ultrasonography in the first trimester of pregnancy offers an early screening tool to identify high risk pregnancies. Artificial intelligence (AI) algorithms have the potential to improve the accuracy of diagnosis and assist the clinician in early risk stratification. OBJECTIVE: to conduct a systematic review of the use of AI in ultrasonography in the first trimester of pregnancy. METHODS: We conducted a systematic literature review by searching in computerised databases Pubmed, Embase and Google Scholar from inception to January 2024...
March 16, 2024: Fetal Diagnosis and Therapy
José Miguel Müller, Edgardo Corral Sereño, Aura Jimenez, Rodrigo Zapata, Silvana Echeverria, Juan Pablo Jara, Alvaro Santibanez, Carolina Lindsay, Renatto Anfossi
INTRODUCTION: Open spina bifida (OSB) manifests as myelomeningocele (MMC) or myeloschisis (MS). Both lesions theoretically leak cerebrospinal fluid (CSF) and produce different degrees of Chiari II malformation (CHMII). However, it is not entirely clear whether these forms of OSB have different clinical manifestations. This study aimed to evaluate the clinical and/or radiological differences between myeloschisis and myelomeningocele in patients who underwent prenatal OSB repair. METHODS: A total of 71 prenatal repairs were performed with the open technique at the Public Hospital of Rancagua, Chile, between 2012 and 2022...
March 12, 2024: Fetal Diagnosis and Therapy
Manesha Putra, Odessa P Hamidi, Camille Driver, Emma E Peek, Matthew A Bolt, Diane Gumina, Shane A Reeves, John C Hobbins
INTRODUCTION: Growth-restricted fetuses may have changes in their neuroanatomical structures that can be detected in prenatal imaging. We aim to compare corpus callosal length (CCL) and cerebellar vermian height (CVH) measurements between fetal growth restriction (FGR) and control fetuses and to correlate them with cerebral Doppler velocimetry in growth restricted fetuses. METHODS: This was a prospective cohort of FGR after 20 weeks of gestation with ultrasound measurements of CCL and CVH...
March 8, 2024: Fetal Diagnosis and Therapy
Kainat Fatima, Rayyan Nabi, Hanzala Ahmed Farooqi
No abstract text is available yet for this article.
February 28, 2024: Fetal Diagnosis and Therapy
Anisha Apte, Tobias Fauser, Quinlan Carson, Kenneth W Liechty, Lauren N Simpson, Anthony M Avellino
INTRODUCTION: Congenital dermal sinus (CDS) is an open neural tube defect (NTD) that occurs in 1 in 2500 births a year and often goes undetected until patients present with complications like infection and neurological deficits. Early diagnosis and repair of CDS may prevent formation of these complications. In utero diagnosis of these lesions may improve long-term outcomes by enabling referral to specialty services and planned postnatal repair, however only two such cases have been reported in the literature...
February 23, 2024: Fetal Diagnosis and Therapy
Shelly Soni, Juliana Gebb, Kendra Miller, Edward R Oliver, Christina Paidas Teefey, Julie S Moldenhauer, Nahla Khalek
INTRODUCTION: To identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR) irrespective of the umbilical artery (UA) Doppler abnormalities. METHODS: Single center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010-2021. The presence of any of the following variables in the growth restricted fetus: low amniotic fluid volume (DVP≤2cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1...
February 17, 2024: Fetal Diagnosis and Therapy
Mateusz Zamłyński, Anita Olejek, Tomasz Koszutski, Janusz Bohosiewicz, Marek Mandera, Jacek Zamłyński, Iwona Maruniak-Chudek, Izabela Herman-Sucharska, Agnieszka Pastuszka
Introduction Fetal ventriculomegaly is one of the most commonly diagnosed central nervous system (CNS) pathologies of the second trimester occurring with a frequency of 0.3-0.5/1000 births. Severe fetal ventriculomegaly (SVM) may necessitate intrauterine intervention. Most such interventions have been made percutaneously with ultrasound guidance insertion of a pigtail catheter, which sadly often became obstructed or migrated. Case presentation Our case report presents the possibility of ventriculo-amniotic valve implantation (VAVI) by classic hysterotomy in isolated severe fetal hydrocephalus (IVSM) due to aqueductal stenosis...
February 17, 2024: Fetal Diagnosis and Therapy
Leyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, Hulya Kayserili, Ibrahim Halil Kalelioglu, Sahin Avci, Recep Has, Paul Coucke, Tugba Kalayci, Bernd Wollnik, Birsen Karaman, Guven Toksoy, Sofie Symoens, Gokhan Yigit, Atil Yuksel, Seher Basaran, Beyhan Tuysuz, Umut Altunoglu, Zehra Oya Uyguner
INTRODUCTION: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. METHODS: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected...
February 12, 2024: Fetal Diagnosis and Therapy
Julia Zepf, Anita Züger, Ladina Vonzun, Ladina Rüegg, Nele Strübing, Franziska Krähenmann, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Nicole Ochsenbein-Kölble
INTRODUCTION: For open fetal spina bifida (fSB) repair, a maternal laparotomy is required. Hence, enhanced maternal recovery after surgery (ERAS) is paramount. A revision of our ERAS protocol was made, including changes in operative techniques and postoperative pain management. This study investigates eventual benefits. METHODS: Our study included 111 women with open fSB repair at our center. The old protocol group (group 1) either received a transverse incision of the fascia with transection of the rectus abdominis muscle (RAM) or a longitudinal incision of the fascia without RAM transection, depending on placental location...
February 10, 2024: Fetal Diagnosis and Therapy
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