Fetal Diagnosis Research Articles

25 The Trapped Twin Within: A Rare Case Report of Fetus in Fetu

Abstract Introduction Fetus in fetu is an uncommon congenital anomaly in which the malformed monochorionic diamniotic twin is entrapped within the body of the host twin, due to embryogenic defects or arrest of blood supply. Differentiation from teratomas is done by the evidence of budding vertebral column and limbs in radiological investigations. Fetus in fetu has an incidence of 1 in 500,000 births with less than 200 cases reported. Herein,we present a case of 1 year old male infant brought with a growing abdominal mass. Case report A 12-month-old male child was brought by the mother with a growing abdominal mass in right lower quadrant and failure to thrive. Tumor markers were negative and radiological investigations confirmed a huge retroperitoneal 12 *10 cm fetus in fetu compressing the inferior vena cava. Transverse laparotomy and in-toto excision following meticulous dissection was done. Histopathology confirmed the diagnosis of fetus in fetu. Conclusion Though a rare entity, fetus in fetu warrants a suspicion in a pediatric abdominal lump and special focus to differentiate from teratoma is recommended. Surgical excision is curative.

Patient-centered perinatal palliative care: family birth plans, outcomes, and resource utilization in a diverse cohort

Perinatal palliative care is an emerging concept in fetal medicine that offers quality-of-life options and anticipatory grief management for families of fetuses with complex conditions. Few perinatal palliative care outcomes are detailed in peer-reviewed literature. This study aimed to describe outcomes of perinatal palliative care at the Fetal Center of the University of Texas Health Science Center at Houston and Women's Center at Children's Memorial Hermann Hospital. This was a retrospective cohort of families receiving perinatal palliative care for life-limiting fetal diagnosis, such as trisomy 13 or 18 and some major structural anomalies between 2016 and 2020. The primary outcome was whether delivery events matched families' birth plans, including fetal/neonatal clinical course matching expectations described by consultant notes. Secondary outcomes included maternal safety outcomes, use of perinatal interventions, delivery outcomes, and resource utilization outcomes. Of 187 perinatal palliative care consults, delivery events matched families' plans and clinicians' expectations in 89% of cases (165/185); 39% (73/187) of families requested some perinatal interventions, 64% of whom planned postnatal comfort care even while choosing antenatal interventions. Demographics and median income were similar between families who chose some interventions and those who chose comfort care. Patients choosing any interventions had more mismatches between their plans and delivery events (19% vs 2%; P<.001), were more likely to change their plans (24% vs 6%; P=.001), and unsurprisingly used more healthcare resources. They were also more likely to have intraamniotic infection or postpartum hemorrhage (9% vs 22%; P=.02), but this was associated with mode of delivery and not choice of interventions. Most families' perinatal experiences matched birth plans and expectations in this perinatal palliative care program. Families who desired interventions used more healthcare resources, but often did so with plans for postnatal comfort care, demonstrating insight into neonatal prognosis but achieving value-consistent goals, such as meeting a live neonate. Perinatal palliative care was safe for maternal patients and equitable across racial, ethnic, and income groups. Perinatal palliative care and some perinatal interventions are options for care of the whole family in complex fetal medicine cases.

Lactation Outcomes After Participation in a Tailored Prenatal Nutrition Consultation Among Women With Infants With Congenital Anomalies

ObjectiveTo describe lactation outcomes among of a cohort of mother–infant dyads in which the women had an individualized prenatal nutrition consultation intervention. DesignDescriptive cohort study. SettingA free-standing children’s hospital with a center for fetal diagnosis and treatment and a specialized maternity unit. ParticipantsA total of 160 women who had prenatal nutrition consultations in 2014 to 2017 and gave birth to infants with known congenital anomalies and required intensive care after birth. MethodsWe surveyed women regarding their lactation outcomes after the Breastfeeding Report Card metrics of the Centers for Disease Control and Prevention and obtained permission to abstract demographic and clinical information from the setting’s electronic health record. We analyzed data with standard descriptive statistics. ResultsAmong the cohort, 86.9% (n = 139) of participants intended to provide human milk or combination feeding in the prenatal period. A total of 128 (92.1%) infants were first exposed to human milk enterally. At the time of discharge, 92.1% (n = 128) of the infants received human milk. The breastfeeding outcomes of the cohort significantly surpassed national data: initiation (98.1% vs. 84.1% national), breastfeeding at 3 months (89.4%), exclusive breastfeeding at 3 months (60% vs. 46.9% national), breastfeeding at 6 months (76.9% vs. 58.3% national), exclusive breastfeeding at 6 months (45% vs. 25.6% national), breastfeeding at 12 months (50.6% vs. 35.3% national), and breastfeeding beyond 12 months (34.4%). ConclusionsLactation outcomes among women who had prenatal nutrition consultations far surpassed national data, and this intervention has implications for family-centered prenatal care, informed decision making, and improved breastfeeding outcomes in the hospital setting and postdischarge.

Intrapartum cardiotocography trace pattern pre-processing, features extraction and fetal health condition diagnoses based on RCOG guideline.

ContextThe computerization of both fetal heart rate (FHR) and intelligent classification modeling of the cardiotocograph (CTG) is one of the approaches that are utilized in assisting obstetricians in conducting initial interpretation based on (CTG) analysis. CTG tracing interpretation is crucial for the monitoring of the fetal status during weeks into the pregnancy and childbirth. Most contemporary studies rely on computer-assisted fetal heart rate (FHR) feature extraction and CTG categorization to determine the best precise diagnosis for tracking fetal health during pregnancy. Furthermore, through the utilization of a computer-assisted fetal monitoring system, the FHR patterns can be precisely detected and categorized.ObjectiveThe goal of this project is to create a reliable feature extraction algorithm for the FHR as well as a systematic and viable classifier for the CTG through the utilization of the MATLAB platform, all the while adhering to the recognized Royal College of Obstetricians and Gynecologists (RCOG) recommendations.MethodThe compiled CTG data from spiky artifacts were cleaned by a specifically created application and compensated for missing data using the guidelines provided by RCOG and the MATLAB toolbox after the implemented data has been processed and the FHR fundamental features have been extracted, for example, the baseline, acceleration, deceleration, and baseline variability. This is followed by the classification phase based on the MATLAB environment. Next, using the guideline provided by the RCOG, the signals patterns of CTG were classified into three categories specifically as normal, abnormal (suspicious), or pathological. Furthermore, to ensure the effectiveness of the created computerized procedure and confirm the robustness of the method, the visual interpretation performed by five obstetricians is compared with the results utilizing the computerized version for the 150 CTG signals.ResultsThe attained CTG signal categorization results revealed that there is variability, particularly a trivial dissimilarity of approximately (+/−4 and 6) beats per minute (b.p.m.). It was demonstrated that obstetricians’ observations coincide with algorithms based on deceleration type and number, except for acceleration values that differ by up to (+/−4).DiscussionThe results obtained based on CTG interpretation showed that the utilization of the computerized approach employed in infirmaries and home care services for pregnant women is indeed suitable.ConclusionsThe classification based on CTG that was used for the interpretation of the FHR attribute as discussed in this study is based on the RCOG guidelines. The system is evaluated and validated by experts based on their expert opinions and was compared with the CTG feature extraction and classification algorithms developed using MATLAB.

Trajectories of Maternal and Paternal Psychological Distress After Fetal Diagnosis of Moderate-Severe Congenital Heart Disease.

The aim of this study was to compare trajectories of maternal and paternal psychological distress after prenatal diagnosis of fetal moderate-severe congenital heart disease (CHD), from pregnancy through early-mid infancy. Pregnant women who received a prenatal diagnosis of fetal moderate-severe CHD, and their partners, were enrolled in a prospective, longitudinal study. Symptoms of psychological distress were measured twice during pregnancy and twice after birth, using the Depression Anxiety Stress Scales (DASS-42). Patterns and predictors of psychological distress were examined using generalized hierarchical linear modeling. Psychological distress was present in 42% (18/43) of mothers and 22% (8/36) of fathers at least once during the study. The rates of distress did not differ between mothers and fathers. There was also no change in probability of distress over time or difference in distress trajectories between mothers and fathers. However, individual trajectories demonstrated considerable variability in symptoms for both mothers and fathers. Predictors of psychological distress included low social support for mothers and a history of mental health conditions for fathers. Parents who receive a prenatal diagnosis of fetal CHD commonly report symptoms of psychological distress from the time of diagnosis through early-mid infancy and display highly variable trajectories. These data suggest that early and repeated psychological screening is important once a fetal CHD diagnosis is made and that providing mental health and social support to parents may be an important component of their ongoing care.

A-139 Language and Communication Skills in Children with Different Fetal Alcohol Spectrum Disorder Diagnoses

Abstract Objective: Children with Fetal Alcohol Spectrum Disorders (FASD) exhibit language deficits, but there has been limited investigation of differences in language and every day communication abilities between FASD diagnostic subgroups. Objective: First, it was hypothesized that children across FASD diagnoses would show deficits in expressive and receptive language and parent rated communication compared to the normative sample. Second, it was hypothesized that language and communication scores would get significantly worse as the severity of FASD diagnosis increased. Method: 90 children (Mean Age = 8 years; 58% Male) were assessed through FASD multidisciplinary clinic using the 4-digit code (Astley, 2004). Fourteen participants met criteria for full/partial Fetal Alcohol Syndrome (FAS), 29 for Static Encephalopathy (SE), and 47 for Neurobehavioral Disorder (ND). Language skills were assessed with Clinical Evaluation of Language Fundamentals Formulated Sentences, NEPSY-2 Comprehension of Instructions, and Vineland-III Communication subtest. Results: The FASD group performed significantly worse than the normative sample on expressive language (p &amp;lt;.001; 95% CI [-5.72, -2.63]), receptive language (p&amp;lt;.001; 95% CI [-3.33, -2.12]) and communication tasks (p &amp;lt;.001; 95% CI [-24.70, -20.30]). The expressive language score was significantly different between groups: F (2, 30.208) = 5.355, p = .020. The ND group performed significantly better (p = .048) 95% CI [.04, 9.96] than other groups. No other significant differences were found. Conclusions: Children with FASD have language deficits on objective measures and parent ratings, which should be a focus of intervention. Expressive but not receptive language or communication skills were impacted by diagnostic severity; therefore, other factors impacting communication should be examined.

Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing

To explore the genetic basis for fetuses with renal anomalies. Genomic DNA of four fetuses and their parents was extracted from amniotic fluid and peripheral blood samples and subjected to whole genome sequencing. Candidate variants were predicted according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by SNP-array and Sanger sequencing. Two fetuses were found to carry a 1.45 Mb pathogenic microdeletion in 17q12 and a pathogenic 1.85 Mb microduplication at 1q21.1-21.2, respectively. One fetus was found to harbor compound heterozygous variants c.8301del (p.Asn2768Thrfs*18) and c.4481del (p.Asn1494Thrfs*6) of the PKHD1 gene, which were predicted to be pathogenic. And one fetus has harbored homozygous c.1372dup (p.Thr458Asnfs*5) variants of the BBS12 gene, which was predicted to be likely pathogenic. All variants were validated by Sanger sequencing. Whole genome sequencing can enable efficient prenatal diagnosis for fetuses with renal anomalies with high accuracy.

Mapping parents' journey following prenatal diagnosis of CHD: a qualitative study.

To better understand parents' accounts of their prenatal and postnatal experience after prenatal diagnosis of CHD - particularly emotional processing and coping mechanisms - to identify strategies to improve support. This single-centre, longitudinal qualitative study included pregnant mothers and their support persons seen in Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May through August 2019 for probable complex CHD. Twenty-seven individuals from 17 families participated in 62 phone interviews during pregnancy and postpartum: 27 conducted after the initial prenatal cardiology consultation, 15 after a follow-up prenatal visit, and 20 after birth. Applied thematic analysis approach was used to code and analyse transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was >80%. Patients included mothers (16 [59%]), fathers (8 [30%]), and other support persons (3 [11%]). Initial fetal diagnoses included a range of moderate to severe CHD. Prenatally, parents sought to maintain hope while understanding the diagnosis; planning for the future rather than focusing on day-to-day was more common if prognoses were better. Postnatally, with confirmation of prenatal diagnoses, parents' sense of control expanded, and they desired more active engagement in clinical decision making. To enhance effective communication and support, understanding how parents conceptualise hope in relation to diagnosis and how that may evolve over time is critical. Expectant parents whose child has a significant risk of mortality may demonstrate hope by focusing on positivity. As prognostic uncertainty diminishes postpartum, the parental role on the team may shift, requiring clinicians to provide different support.

Isolated Absent Septum Pellucidum: A Retrospective Study of Fetal Diagnosis and Postnatal Outcomes

BackgroundAbsent septum pellucidum (ASP) is a brain abnormality often associated with neuroanatomic abnormalities including septo-optic dysplasia (SOD). We aimed to determine how frequently prenatally diagnosed isolated ASP is confirmed by postnatal imaging and to examine clinical outcomes for ASP. MethodsThis was a retrospective study of maternal-fetal dyads referred to Children's National Hospital from January 1, 2012, to June 30, 2019. We included cases with fetal diagnosis of isolated or complex ASP. Diagnosis was based on ASP and the presence or absence of additional neuroanatomic findings. Data included obstetric and birth history, genetic testing, imaging, and neurodevelopmental outcomes. ResultsASP was diagnosed in 35 fetuses. Of 17 fetuses with isolated ASP, 10 had postnatal evaluation. In five (50%) isolated ASP cases, postnatal imaging revealed additional brain abnormalities. The five children with postnatally confirmed isolated ASP had lower rates of hydrocephalus (0% vs 54%) and abnormal feeding (0% vs 20%), hearing (0% vs 14%), and vision (0% vs 14%) than those with complex ASP (n = 17). Children with isolated ASP had lower rates of developmental delay (33% vs 50%) and seizures (11% vs 30%) than children with complex ASP. One child with prenatal isolated ASP was diagnosed with SOD (10%). ConclusionsFew children with prenatally diagnosed isolated ASP had SOD diagnosed postnatally. Overall, children with isolated ASP demonstrate better outcomes than children with complex ASP. Fetal magnetic resonance imaging is a useful tool to evaluate the septum pellucidum and may reveal additional abnormalities that can impact prognosis and affect prenatal counseling.

Has the COVID-19 delayed the diagnosis of fetal anomalies and reduced in the follow-up of high-risk pregnancies?

Objective: COVID-19 has deeply affected our lives in terms of social, economic, education and health issues. Pregnant women have had concerns about routine antenatal care visits and decreased follow-up numbers due to concern of COVID-19 transmission. We aimed to evaluate whether there is a delay in the diagnosis of fetal anomaly during the COVID-19 pandemic period and whether patients diagnosed with fetal anomaly attend antenatal care regularly or not, and to investigate the factors that prevent them from regular follow-up. Methods: Pregnant women diagnosed with fetal anomaly during pandemic period (March 1, 2020 to September 1, 2020) and diagnosed with fetal anomaly before pandemic period (September 1, 2019 to February 28, 2020) were compared with a questionnaire in terms of antenatal follow-up frequency and gestational age of fetal anomaly diagnosis. Results: In the during pandemic period group, regular pregnancy follow-up was decreased from 87% to 51% because of maternal anxiety, fear of virus transmission in hospital and the anxiety of passing it on to baby. Attending a detailed ultrasound scan for detecting fetal anomaly at 18–22 weeks was significantly lower in the during pandemic group. In the pandemic period, the most commonly diagnosed fetal anomalies were central and peripheral nervous system, and cardiovascular and gastrointestinal system anomalies similar to the before pandemic period group. The mean frequency of follow-ups in the third trimester in the before pandemic period group and during pandemic period group was 6.02 (±2.36) times and 4.02 (±1.97) times, respectively, and it was a considerable and statistically significant decrease. In addition, the mean week of fetal anomaly diagnosis was 23±6 weeks in during pandemic group, while it was 22±5 weeks in before pandemic group, and there was no statistically significant difference. Conclusion: Antenatal follow-up of the patients has been decreased significantly during the pandemic period, although it does not seem to cause delay in the diagnosis of fetal anomaly. In experienced perinatal centers, if the concerns of patients are relieved and they are examined under suitable conditions for the pandemic, there will be no delay in diagnosis of fetal anomalies.

Canadian clinical capacity for fetal alcohol spectrum disorder assessment, diagnosis, disclosure and support to children and adolescents: a cross-sectional study

ObjectiveCanadian fetal alcohol spectrum disorder (FASD) guidelines encourage an age-specific interdisciplinary diagnostic approach. However, there is currently no standard-of-care regarding FASD diagnosis disclosure and few studies document Canadian FASD clinical...

Design and Protocol of the Renal Anhydramnios Fetal Therapy (RAFT) Trial

PurposeAnhydramnios secondary to anuria before 22 weeks of gestational age and congenital bilateral renal agenesis before 26 weeks of gestational age are collectively referred to as early-pregnancy renal anhydramnios. Early-pregnancy renal anhydramnios occurs in at least 1 in 2000 pregnancies and is considered universally fatal when left untreated because of severe pulmonary hypoplasia precluding ex utero survival The Renal Anhydramnios Fetal Therapy (RAFT) trial is a nonrandomized, nonblinded, multicenter clinical trial designed to assess the efficacy, safety, and feasibility of amnioinfusions for patients with pregnancies complicated by early-pregnancy renal anhydramnios. The primary objective of this study is to determine the proportion of neonates surviving to successful dialysis, defined as use of a dialysis catheter for ≥14 days. MethodsA consortium of 9 North American Fetal Therapy Network (NAFTNet) centers was formed, and the RAFT protocol was refined in collaboration with the NAFTNet Scientific Committee. Enrollment in the trial began in April 2020. Participants may elect to receive amnioinfusions or to join the nonintervention observational expectant management group. Eligible pregnant women must be at least 18 years of age with a fetal diagnosis of isolated early-pregnancy renal anhydramnios. FindingsIn addition to the primary study objective stated above, secondary objectives include (1) to assess maternal safety and feasibility of the serial amnioinfusion intervention (2) to perform an exploratory study of the natural history of untreated early pregnancy renal anhydramnios (3) to examine correlations between prenatal imaging and lung specific factors in amniotic fluid as predictive of the efficacy of serial percutaneous amnioinfusions and (4) to determine short- and long-term outcomes and quality of life in surviving neonates and families enrolled in RAFT ImplicationsThe RAFT trial is the first clinical trial to investigate the efficacy, safety, and feasibility of amnioinfusions to treat the survival-limiting pulmonary hypoplasia associated with anhydramnios. Although the intervention offers an opportunity to treat a condition known to be almost universally fatal in affected neonates, the potential burdens associated with end-stage kidney disease from birth must be acknowledged. ClinicalTrials.gov identifier: NCT03101891.

Contribution of Fetal Magnetocardiography to Diagnosis, Risk Assessment, and Treatment of Fetal Arrhythmia.

BackgroundFetal echocardiography has been the mainstay of fetal arrhythmia diagnosis; however, fetal magnetocardiography (fMCG) has recently become clinically available. We sought to determine to what extent fMCG contributed to the precision and accuracy of fetal arrhythmia diagnosis and risk assessment, and in turn, how this altered pregnancy management.Methods and ResultsWe reviewed fMCG tracings and medical records of 215 pregnancies referred to the Biomagnetism Laboratory, UW‐Madison, over the last 10 years, because of fetal arrhythmia or risk of arrhythmia. We compared referral diagnosis and treatment with fMCG diagnosis using a rating scale and restricted our review to the 144 subjects from the tachycardia, bradycardia/AV block, and familial long QT syndrome categories. Additional fMCG findings beyond those of the referring echocardiogram, or an alternative diagnosis were seen in 117/144 (81%), and 81 (56%) were critical changes. Eight (5.5%) had resolution of arrhythmia before fMCG. At least moderate changes in management were seen in 109/144 (76%) fetuses, of which 35/144 (24%) were major. The most diverse fMCG presentation was long QT syndrome, present in all 3 referral categories. Four of 5 stillbirths were seen with long QT syndrome. Nine fetuses showed torsades de pointes ventricular tachycardia, of which only 2 were recognized before fMCG.ConclusionsFMCG has a significant impact on prenatal diagnosis and management of arrhythmias or familial arrhythmia risk, which cannot be fully met by existing technology. The combination of fMCG and fetal echocardiography in fetal care centers will be needed in the future to optimize care.

Legal Responsibility of Fetal Diagnosis by Objective Specialists in Hospital

Negligence of health service providers is regulated in Article 58 of Law Number 36 of 2009 concerning Health concerning the right of everyone to claim compensation for a person, health worker, and/or health provider who causes losses due to errors or omissions in the services they receive. Both parties have their own responsibilities. Doctors will consider the medical actions taken, while the hospital is responsible for the health services it provides. The purpose of this study was to analyze the legal liability of specialist doctors related to fetal misdiagnosis. The legal material used in this research is statutory regulations. Secondary legal materials are legal materials obtained from textbooks, journals, legal cases and symposia conducted by legal experts. Tertiary legal materials are legal materials that provide meaningful instructions or explanations for primary and secondary materials such as legal dictionaries, encyclopedias, the Big Indonesian Dictionary and others. Based on the analysis and discussion in determining the criminal legal responsibility of content specialists related to misdiagnosis of the fetus, then based on Article 361 of the Criminal Code (KUHP), it must be explained that the doctor will be responsible for determining the examination actions that occur if an error occurs. The diagnosis made by a doctor must be proven by a doctor who is competent in that field. There is no possibility that the Doctor can argue that he has made the appropriate diagnosis.

Legal Responsibility of Fetal Diagnosis by Objective Specialists in Hospital

Legal Responsibility of Fetal Diagnosis by Objective Specialists in Hospital

Ex Utero intrapartum treatment of extralobar pulmonary sequestration: case report and literature review

Sofija Jackevičiūtė1, Jelena Volochovič1,2 1 Vilnius University, Faculty of Medicine, M. K. Čiurlionio street 21, Vilnius, Lithuania 2 Vilnius University hospital, Santaros clinic, Obstetrics, and Gynecology Center, Santariškių street 2, Vilnius, Lithuania Abstract Background: Extralobar pulmonary sequestration is an uncommon congenital lung lesion, very rarely causing severe symptoms prenatally or requiring prompt surgical actions taken. The purpose of this report is to present a unique symptomatic case of extralobar pulmonary sequestration which led to an Ex Utero intrapartum treatment being performed for the first time in Lithuania and followed with successful further treatment of pulmonary pathology. Case presentation: A nulliparous caucasian patient at 22 years of age was sent to a tertiary level clinic after alarming results were found during routine ultrasound examination at 29+4 weeks of gestation. After a detailed examination, extralobar pulmonary sequestration was diagnosed. Due to severely worsening fetal condition on week 32 of gestation the pregnancy was no longer continued and an Ex Utero intrapartum treatment procedure was performed. The pulmonary pathology later was surgically resected at 6 months of age. Conclusion: This rare case of extralobar pulmonary sequestration allows us to explore key moments in the diagnostic and treatment pathways of this pathology. Magnetic resonance imaging, which allows evaluating parous patients more precisely than ultrasound imaging, with fetal pulmonary vessels being seen more clearly, is inspected as a necessary step in fetal lung sequestration diagnosis establishment. The Ex Utero intrapartum treatment procedure and how anticipated respiratory challenges of the newborn can be tackled with its implementation leading to timely execution of crucial interventions is researched. Keywords: intrapartum, treatment, procedures.

A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord.

To determine the diagnostic value of fetal magnetic resonance imaging (MRI) for congenital spine/spinal cord malformations. This single-center retrospective study included 120 cases of fetal spine/spinal cord abnormalities detected using fetal ultrasonography (US) and further examined by fetal MRI between 2016 and 2020. Cases were divided into three groups (congenital spine, spinal cord, and spine+spinal cord malformations) based on US assessment. We analyzed the accuracy of fetal US and MRI relative to postnatal imaging. The diagnostic accuracy of fetal MRI for fetal spinal cord, spine, and spine+spinal cord malformations was 86.2% (25/29), 89.4% (42/47), and 86.3% (38/44), respectively, and the corresponding rates for fetal US were 51.7% (15/29), 87.2% (41/47), and 68.2% (30/44). The diagnostic accuracy did not differ between fetal MRI and US for congenital spine malformations (p>0.05); for congenital spinal cord malformations and congenital spine+spinal cord malformations, the diagnostic accuracy was significantly higher for fetal MRI than for fetal US (p<0.05). Fetal MRI is effective in the assessment of congenital spine/spinal cord malformations. It can yield information that supplements US findings, especially for congenital spinal cord malformations, and can improve the accuracy of fetal diagnosis.

Fetal-onset malignant rhabdoid tumor: a case report

BackgroundA fetal-onset cervical mass may cause postnatal airway obstruction, and ex utero intrapartum treatment (EXIT) to secure the airway while maintaining fetal-placental circulation may be life-saving. Malignant rhabdoid tumors (MRT) are highly aggressive tumors, and when they develop in utero, the prognosis is even worse, with almost no reports of survival beyond the neonatal period. Herein, we report a case of a primary cervical MRT and describe our treatment using EXIT for securing the airway, wherein the infant’s life was saved.Case presentationA 40-year-old Japanese woman with no relevant medical or surgical history was diagnosed with a fetal left cervical mass and polyhydramnios during the third trimester. Fetal magnetic resonance imaging indicated the possibility of postnatal airway obstruction, and delivery using EXIT was planned. The infant was delivered by a planned cesarean section at 39 weeks and 5 days gestation, and tracheostomy was performed using EXIT. Postnatal contrast-enhanced computed tomography revealed suspected metastatic lesions in the subcutaneous tissue, lungs, and thymus, in addition to the mass in the left cervical region. MRT was diagnosed by biopsy of a subcutaneous mass in the left thigh, and chemotherapy with vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide was initiated. The tumors regressed, and the infant was successfully weaned from artificial ventilation. After discharge from the hospital, she had a recurrent cervical mass and intracranial metastasis, and radiotherapy was initiated.ConclusionsIn our case, fetal diagnosis enabled advance planning of delivery using EXIT, thus saving the infant’s life. The use of chemotherapy for MRT, which has a poor prognosis, allowed tumor regression and enabled the infant to survive beyond the neonatal period.

Discordant Post-natal Patterns in Fetuses With Heterotaxy Syndrome: A Retrospective Single-Centre Series on Outcome After Fetal Diagnosis.

ObjectiveCardiac and extra-cardiac anomalies in 46 pre-natally diagnosed cases of heterotaxy were compared to post-natal anatomical patterns in order to reveal discordant findings. Second, the outcome of these fetuses was evaluated.MethodsFetuses with heterotaxy, diagnosed in a tertiary referral centre, were analysed retrospectively. Based on the foetal abdominal situs view, right atrial isomerism (RAI) and left atrial isomerism (LAI) were defined as foetal sub-types. Post-natally, discordant anatomical patterns for broncho-pulmonary branching, atrial appendage morphology, and splenic status were further clarified with CT scans. In summary, the spectrum of pre-natally and post-natally detected cardiac and extra-cardiac anomalies is systematically reviewed. Necessary surgical interventions and mid-long-term outcomes were compared between the two sub-types in surviving infants.ResultsA total of 46 fetuses with heterotaxy were included; LAI was diagnosed in 29 (63%) fetuses and RAI was diagnosed in 17 (37%) fetuses. Extra-cardiac anomalies were noted in 35% of fetuses. Seven out of the 29 fetuses (24%) with LAI had atrio-ventricular block (AVB) and four of these cases presented with hydrops. Twenty nine out of the 46 participating fetuses (63%) were live births, with 62% in the LAI group and 65% in the RAI group. Five fetuses were lost to follow-up. At the age of 1 year, the overall survival of live births [estimate (95% CI)] was 67% (48; 92%) in patients with LAI and 55% (32; 94%) in patients with RAI. At the age of 5 years, the estimates were 67% (48; 92%) in the LAI group and 46% (24–87%) in the RAI group. The median survival (first quartile; third quartile) was 11.1 (0.1; 14) years for patients with LAI and 1.3 (0.09; NA) years for patients with RAI. Of 17 children who had undergone cardiac surgery, five (29%) children achieved a bi-ventricular repair and 12 (70%) children achieved a uni-ventricular palliation. Three were primarily palliated, but converted to bi-ventricular thereafter. Foetal subtype definition of heterotaxy based on the abdominal situs and post-natal thoracic imaging studies showed a discordant pattern of broncho-pulmonary branching and atrial appendage anatomy in 40% of our live-born children.ConclusionHeterotaxy is a rare and complex condition with significant morbidity and mortality related to severe cardiac and extra-cardiac associations. Accurate pre-natal diagnosis can help identify the fetuses at risk and allow for timely intervention in a multi-disciplinary setting. Further studies are warranted to shed light on the exact sub-type definition in fetuses with heterotaxy and the presence of discordant post-natal patterns.

The Trauma of Perinatal Loss: A Scoping Review

Perinatal loss, the loss of a fetus or neonate between conception and 28 days after birth, is a worldwide phenomenon impacting millions of individuals annually. Whether due to miscarriage, stillbirth, life-limiting fetal diagnoses, or neonatal death, up to 60% of bereaved parents exhibit symptoms of depression, anxiety, and posttraumatic stress disorder. Despite the high prevalence of posttraumatic stress symptoms, perinatal loss is not framed using a trauma lens. The purpose of this scoping review is to gain insight into the trauma within the perinatal loss experience.