Fetal Diagnosis and Therapy

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 would be inevitable. Corticosteroid prophylaxis (24 mg of betamethasone in two doses of 12 mg 24 h apart) initiated for prophylaxis of respiratory distress syndrome led to a reduction in fetal ascites and pericardial effusion...

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 echocardiograms from our archives, we measured the anteroposterior thymus size and the intrathoracic mediastinal diameter (IMD) to derive TT ratios in the SGA (n=105) and control groups (n=533) between 19+0 and 21+6 weeks of gestation...

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 compare OSI to PI cohorts. METHODS: A keyword search of PubMed was conducted. Inclusion criteria were: data available per individual fetus including gestational age at intervention, type of intervention, primary indication, survival, gestational age at birth, and complications...

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 three steps: brain plane classification (transventricular, transthalamic or transcerebellar plane); brain structures delineation (9 different structures); and automatic measurement (from the structure delineations)...

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. In total, six different aCGH platforms were studied; four different resolutions (0.18 Mb, 0.5Mb, 1Mb, 2Mb) and two platform designs (whole genome [WG] and targeted)...

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, and what the eventually detectable, negative and positive, impact of these deviations on outcomes was...

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 observational cohort of consecutive fetuses with neck masses that were candidates for an EXIT procedure due to suspicion of laryngeal and/or tracheal occlusion on ultrasonographic (US) or magnetic resonance imaging (MRI) examination were recruited for FL in a tertiary referral center in Queretaro, Mexico...

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. RESULTS: Responses were obtained from 77% contacted centers...

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 cohort from January 2012 to January 2023 of consecutive MCDA twin pregnancies complicated by TTTS after 26 weeks and evaluated in our referring centers...

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 urine. Fetuses were divided into Group 1 and Group 2 if CMV-PCR was positive or negative, respectively...

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 antibodies followed up at the prenatal ultrasound department of the University Hospital of Bern. AV intervals were serially measured by two previously reported methods and plotted against previously created reference ranges...

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 first trimester ultrasound and to prescribe low dose aspirin 150mg(LDA) in patients at risk for pPE. Therefore, a multicentre registry study collecting screening and pregnancy outcome data was initiated in2020;these are the preliminary results...

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 levels in maternal serum to evaluate their correlation and to improve amniotic fluid immunological characteristics knowledge...

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 applications, and translation into clinical studies. Initially used by Meuli et al., fetal myelomeningocele defect creation and in utero repair demonstrated motor function preservation...

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 results are obtained in children from 3 to 8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child...

INTRODUCTION: Targeted routine antenatal prophylaxis with anti-D immunoglobulin 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 redundant. Postnatal prophylaxis can then be given based on the result of fetal RHD genotyping...

INTRODUCTION: Abdominal wall defects (AWD) 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 study included 72 pregnant women with fetuses with AWD and a gestational age <25 weeks. Abdominal volume, 3D US LV, and herniated volume were acquired every 4 weeks up to 33 weeks...

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 (KID) from 2003-2016, neonates (<29 days old) with VACTERL were identified using ICD-9-CM and ICD-10-CM codes...

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 data to guide evidence-based standards. This multi-institutional, interdisciplinary approach aims to elucidate the current scope of diagnoses that might be considered for such treatments and examine if treatment allocation and/or outcomes could be improved...

OBJECTIVE: 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. The aim of this study was to assess the value of an additional first trimester scan compared to only a second trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rates, time of prenatal diagnosis and pregnancy outcomes were evaluated in the Netherlands after implementation of a national screening program...