Prenatal diagnosis of fetal pericardial rhabdomyoma resulting in fetal death.

We present a case of huge pericardial rhabdomyoma that progressed into the pericardial cavity, resulting in fetal death. Fetal ultrasound and neonatal echocardiography provide excellent diagnostic methods for fetal rhabdomyoma. When established, antenatal diagnosis enables a focused, specialized, and multidisciplinary approach with individual case management, potentially reducing perinatal morbidity and mortality.

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

BACKGROUND: Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase domain containing, cytoplasmic(PKDCC)gene variants. In this study, we describe the clinical features and potential RLSDF molecular etiology in a fetus from China. METHODS: Genomic DNA (gDNA) extracted from the fetal muscle tissue and parents' peripheral blood was subjected to chromosomal microarray analysis (CMA) and trio-based whole exome sequencing (Trio-WES). The candidate pathogenic variants were verified by using Sanger sequencing. RESULTS: Trio-WES identified two compound heterozygous variants in PKDCC, c.346delC (p.Pro117Argfs*113) and c.994G > T (p.Glu332Ter), inherited from the father and mother, respectively. Both variants are classified as pathogenic according to American College of Medical Genetics and Genomics guidelines. CONCLUSIONS: We reported the first prenatal case of RLSDF caused by PKDCC in the Chinese population. Our findings extended the variation spectrum of PKDCC and emphasized the necessity of WES for the early diagnosis of skeletal dysplasia and other ultrasound structural abnormalities in fetuses.

Serial lung mass volume ratios as prognostic indicators of neonatal respiratory morbidity in fetal pulmonary malformations.

BACKGROUND: Several studies have shown that the congenital pulmonary airway malformation volume ratio is a useful prognosticator of neonatal outcome in prenatally diagnosed lung lesions. However, there remains a lack of consensus on which congenital pulmonary airway malformation volume ratio values have the best predictive value because of operator dependence, inherent changes in lung lesion size throughout gestation, and the widespread use of maternal steroids. OBJECTIVE: This study sought to determine the association between serial congenital pulmonary airway malformation volume ratio measurements and neonatal outcomes among fetuses with lung malformations. STUDY DESIGN: This was a retrospective cohort study of fetuses with a prenatally diagnosed lung malformation managed at 2 major fetal centers from January 2010 to December 2021. Prenatal variables, including prospectively measured congenital pulmonary airway malformation volume ratio measurements (initial, maximum, and final), were analyzed. The results were correlated with 3 outcome measures, namely surgical resection before 30 days of life, a need for supplemental O2 at birth, and endotracheal intubation at birth. Statistical analyses were performed using receiver operating characteristic curve analyses, Welch 2 sample t tests, and multivariable logistic regressions (P<.05). RESULTS: There were 123 fetuses with isolated lung lesions identified. Eight (6.5%) had hydrops. The mean initial congenital pulmonary airway malformation volume ratio was 0.67±0.61 cm2 at 22.9±3.9 weeks' gestation. The mean maximum congenital pulmonary airway malformation volume ratio was 1.08 ± 0.94 cm2 at 27.0 ± 4.0 weeks' gestation. The mean final congenital pulmonary airway malformation volume ratio was 0.58±0.60 cm2 at 33.2±4.1 weeks' gestation. At a mean gestational age at delivery of 38.3±2.6 weeks, 15 (12.2%) underwent neonatal lung resection for symptomatic disease. In a multivariable regression, all 3 congenital pulmonary airway malformation volume ratio measurements showed a significant correlation with neonatal lung resection (P<.001). Optimal congenital pulmonary airway malformation volume ratio cutoffs were established based on an initial congenital pulmonary airway malformation volume ratio of ≥0.8 cm2, maximum congenital pulmonary airway malformation volume ratio of ≥1.5 cm2, and a final congenital pulmonary airway malformation volume ratio of ≥1.3 cm2 with associated areas under the curve of 0.89, 0.97, and 0.93, respectively. The final congenital pulmonary airway malformation volume ratio had the highest specificity for predicting surgical lung resection in the early postnatal period. CONCLUSION: Measuring congenital pulmonary airway malformation volume ratios throughout pregnancy in fetuses with pulmonary malformations has clinical value for prenatal counseling and planning care transition after delivery. Fetuses with a final congenital pulmonary airway malformation volume ratio of more than 1.3 cm2 are likely to require neonatal surgery and therefore should be delivered at tertiary care centers with a neonatal intensive care unit and pediatric surgical expertise.

[Clinical Efficacy and Nursing Care of Fetal Intrauterine Blood Transfusion: Previous Experience Review].

Objective: To summarize the clinical efficacy and nursing experience of intrauterine blood transfusion (IUT) treatment for fetal anemia cases. Methods: The clinical data of 4 fetal anemia cases receiving IUT in Beijing Obstetrics and Gynecology Hospital, Capital Medical University between 2020 and 2022 were collected. Four pregnant women aged 24-38 years were included in the study. They carried fetuses with anemia of unknown causes. The four pregnant women developed anxiety after they were informed of the diagnosis of fetal anemia. One-on-one psychological counseling before the IUT procedure and one-on-one companionship over the course of the surgery were provided for the pregnant women. In addition, they were closely monitored for blood transfusion reactions. Postprocedural observation of the puncture site and 24-hour monitoring of the newborns were also conducted. Results: The four pregnant women underwent 1-3 times of IUT in the second and third trimesters, with the minimum gestational age at the time of IUT being 25 + weeks and the blood transfusion volume being 20-107 mL/time. Two pregnant women experienced irregular uterine contractions during IUT in the third trimester. Other than that, all other IUT treatments were successful. After IUT, there was a significant improvement in fetal hemoglobin, peak systolic velocity of the middle cerebral artery (MCA-PSV), and cardiothoracic area ratio. One case did not give birth in our hospital and the outcome of the fetus was not known. The other three fetuses achieved good outcomes. Conclusion: Positive preprocedural psychological counseling for pregnant women, close intraoprocedural and postprocedural pregnancy monitoring, and the prevention of maternal and fetal complications are the key to improving the clinical efficacy of IUT and achieving a good fetal outcome.

Indications, Resource Allocation, and Outcomes Associated with Ex-Utero Intrapartum Treatment Procedures: A North American Fetal Therapy Network Survey.

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. METHODS: After IRB approval, a survey investigating diagnoses appropriate for EXIT consultation and procedure, variables within each diagnosis, occurrence of maternal and neonatal adverse outcomes, and instances of suboptimal resource allocation in the last decade was sent to all North American Fetal Treatment Network center representatives. One response was recorded per center. RESULTS: We received a 91% response rate and all but one center offer EXIT. Most centers (34/40, 85%) performed 1-5 EXIT consultations per year and 17/40 (42.5%) centers performed 1-5 EXIT procedures in the last 10 years. The diagnoses with the highest degree of agreement between centers surveyed to justify consultation for EXIT are head and neck mass (100%), congenital high airway obstruction (90%), and craniofacial skeletal conditions (82.5%). Maternal adverse outcomes were noted in 7.5% of centers while neonatal adverse outcomes in 27.5%. A large percentage of centers report cases of suboptimal selection for risk mitigation procedures and several centers experienced adverse neonatal and maternal outcomes. CONCLUSION: This study captures the scope of EXIT indications and is the first to demonstrate the mismatch in resource allocation for this population. Further, it reports on attributable adverse outcomes. Given suboptimal allocation and adverse outcomes, further examination of indications, outcomes, and resource use is justified to drive evidence-based protocols.

Genotipificación del gen RHD en ADN fetal libre en plasma de embarazadas RhD negativo / Genotyping of the RHD gene in free fetal DNA in plasma of RhD negative pregnant women

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.

Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.

Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome.

OBJECTIVE: To evaluate the short- and long-term outcome of fetuses with evidence of extension of the choroid plexus into the frontal horns. METHODS: This is a retrospective cohort study of fetuses diagnosed with isolated choroid plexi extending into the frontal horns. Fetuses with major central nervous system anomalies were excluded. Ultrasound and fetal/postnatal magnetic resonance imaging (MRI) were evaluated. Postnatal outcomes, including developmental assessment, were obtained. RESULTS: Twenty nine fetuses were diagnosed with choroid plexus extension (22 unilateral and 7 bilateral). Gestational age at diagnosis was 19.3 weeks. Three cases (10.3%) presented with nonspecific extra-CNS findings. At presentation, 8/29 (28%) cases had single/multiple choroid plexus cysts (CPC). Twenty-six (89.6%) cases underwent antenatal MRI. On MRI, four cases had punctate susceptibility weighted imaging (SWI) foci suggesting trace hemosiderin and two cases had ventriculomegaly. Antenatal follow-up demonstrated resolution of the choroid plexus extension in 90% (18/20). Gestational age at delivery was 39.6 weeks. All had normal neurologic examinations within 24 h of life. Postnatal MRI studies were notable for deep venous differences in seven cases. Long-term clinical outcome was assessed in 14 cases with a median follow-up of 1.75 years, with normal neurodevelopment reported in 13/14 (92.8%). CONCLUSIONS: Most fetuses with an anterior extension of the choroid plexus as the sole sonographic finding had favorable outcomes.

Treatment and Outcomes of Congenital Ovarian Cysts A Study by the Canadian Consortium for Research in Pediatric Surgery (CanCORPS).

OBJECTIVE: We conducted a multicenter study to assess treatments and outcomes in a national cohort of infants with congenital ovarian cysts. SUMMARY BACKGROUND DATA: Wide variability exists in the treatment of congenital ovarian cysts. The effects of various treatment strategies on outcomes, specifically ovarian preservation, are not known. METHODS: Female infants diagnosed with congenital intra-abdominal cysts between 2013 and 2017 at 10 Canadian pediatric surgical centers were retrospectively evaluated. Sonographic characteristics, median time to cyst resolution, incidence of ovarian preservation, and predictors of surgery were evaluated. Subgroup analyses were performed in patients with complex cysts and cysts ≥40 mm in diameter. RESULTS: The study population included 189 neonates. Median gestational age at diagnosis and median maximal prenatal cyst diameter were 33 weeks and 40 mm, respectively. Cysts resolved spontaneously in 117 patients (62%), 14 (7%) prenatally, and the remainder at a median age of 124 days. Intervention occurred in 61 patients (32%), including prenatal aspiration (2, 3%), ovary sparing resection (14, 23%), or oophorectomy (45, 74%). Surgery occurred at a median age of 7.4weeks. Independent predictors of surgery included postnatal cyst diameter ≥40 mm [odds ratio (OR) 6.19, 95% confidence interval (CI) 1.66-35.9] and sonographic complex cyst character (OR 63.6, 95% CI 10.9-1232). There was no significant difference in the odds of ovarian preservation (OR 3.06, 95% CI 0.86 -13.2) between patients who underwent early surgery (n = 22) and those initially observed for at least 3 months (n = 131). CONCLUSIONS: Most congenital ovarian cysts are asymptomatic and spontaneously resolve. Early surgical intervention does not increase ovarian preservation.

A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.

INTRODUCTION: Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn. PATIENT CONCERNS: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as "neonatal intracranial hemorrhage, congenital heart disease," and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital. DIAGNOSIS: After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing. INTERVENTION: After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased. OUTCOME: Up to now, although the seizures have decreased, they have not been completely controlled. CONCLUSIONS: The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.

Isolated Fetal Ventriculomegaly- Postnatal Outcomes and Proposed New Prognostication Classification.

Background: Outcome of Isolated ventriculomegaly diagnosed antenatally depends on size of ventricles and associated malformations. There is scarcity of literature on the guidelines for prognostication based on outcomes as per the ventricle size. Aim: The aim of this work was to study outcome of antenatally detected isolated ventriculomegaly in terms of medical termination, postnatal neuro-developmental milestones, and mortality; and also to propose a new prognostication classification. Methods: Prospective and retrospective observational study on antenatal mothers with isolated ventriculomegaly diagnosed in fetus. Outcomes in terms of termination of pregnancy, postnatal mortality, need of surgery, and morbidity were recorded. Patients were categorized into four groups: Group 1--ventricle size <10 mm, II--11-15 mm, III--16-20 mm, and IV > 20 mm and neuro-developmental milestones were co-related. Association with chromosomal anomalies, congenital heart disease, and maternal infection were also analyzed. Results: 521 antenatal females were referred with fetal anomalies with 163 having CNS malformations. Isolated ventriculomegaly was seen in only 44. Patients of groups 1 and 2 had 100% normal neuro-developmental milestones without any intervention. Group 3 patients had normal neurodevelopmental milestones in 60% only while shunt surgery was required in 40% of patients. All patients of group 4 had poor outcome with only 50% survival. No association with chromosomal anomalies and heart disease was found. Conclusions: Prognosis of isolated ventriculomegaly depends upon size of ventricles and its progressive increase on serial ultrasounds. New proposed classification is simple and would be useful for the treating surgeons to explain the prognosis to parents so as to relieve them of anxiety.

Prenatally diagnosed large intrapericardial rhabdomyoma without haemodynamic compromise.

Cardiac rhabdomyoma is the most common primary cardiac tumour and is considered to be a hamartoma of developing embryonic cardiac myocytes. It is commonly seen in tuberous sclerosis. The size and location of the tumour is the surrogate determinant of the risk of haemodynamic compromise. Pericardial rhabdomyoma is very rare and tends to follow the inherent natural history of spontaneous regression. We present cases of two foetuses diagnosed with large pericardial rhabdomyoma and no haemodynamic consequences.

Gene-Environment Interactions During the First Thousand Days Influence Childhood Neurological Diagnosis.

Gene-environment (G x E) interactions significantly influence neurologic outcomes. The maternal-placental-fetal (MPF) triad, neonate, or child less than 2 years may first exhibit significant brain disorders. Neuroplasticity during the first 1000 days will more likely result in life-long effects given critical periods of development. Developmental origins and life-course principles help recognize changing neurologic phenotypes across ages. Dual diagnostic approaches are discussed using representative case scenarios to highlight time-dependent G x E interactions that contribute to neurologic sequelae. Horizontal analyses identify clinically relevant phenotypic form and function at different ages. Vertical analyses integrate the approach using systems-biology from genetic through multi-organ system interactions during each developmental age to understand etiopathogenesis. The process of ontogenetic adaptation results in immediate or delayed positive and negative outcomes specific to the developmental niche, expressed either as a healthy child or one with neurologic sequelae. Maternal immune activation, ischemic placental disease, and fetal inflammatory response represent prenatal disease pathways that contribute to fetal brain injuries. These processes involve G x E interactions within the MPF triad, phenotypically expressed as fetal brain malformations or destructive injuries within the MPF triad. A neonatal minority express encephalopathy, seizures, stroke, and encephalopathy of prematurity as a continuum of trimester-specific G x E interactions. This group may later present with childhood sequelae. A healthy neonatal majority present at older ages with sequelae such as developmental disorders, epilepsy, mental health diseases, tumors, and neurodegenerative disease, often during the first 1000 days. Effective preventive, rescue, and reparative neuroprotective strategies require consideration of G x E interactions interplay over time. Addressing maternal and pediatric health disparities will maximize medical equity with positive global outcomes that reduce the burden of neurologic diseases across the lifespan.

A case report of serpentine-like syndrome and review of literature.

BACKGROUND: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings. CASE PRESENTATION: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS. DISCUSSION AND CONCLUSIONS: SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.

Prenatal ultrasound findings of ectodermal dysplasia: a case report.

BACKGROUND: Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth. CASE PRESENTATION: A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible. CONCLUSIONS: This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.

Differentiating congenital ovarian cysts from other abdominal cystic lesions in female infants: A study by the Canadian Consortium for Research in Pediatric Surgery (CanCORPS).

PURPOSE: The origin of congenital abdominal cysts in the female fetus often dictates management. While most arise from the ovary and are often managed non-operatively, some are non-ovarian and are frequently removed. We analyzed a national sample of female infants with congenital abdominal cysts to elucidate prenatal and postnatal factors associated with the diagnosis of a non-ovarian cyst. METHODS: A retrospective cohort study of female infants who were prenatally diagnosed with abdominal cysts between 2013 and 2017 at 10 Canadian pediatric surgical centres was performed. Clinical characteristics, pre- and postnatal sonographic findings, and cyst trajectories were compared between patients with proven ovarian etiology and those with cysts arising from other organs. RESULTS: Of 185 infants with prenatally diagnosed abdominal cysts, 22 (12%) were non-ovarian, five of which had clear non-ovarian organ of origin on prenatal ultrasound. Comparison of the other 17 cysts with 163 congenital ovarian cysts showed the following factors to be associated with a non-ovarian origin: earlier gestational age at diagnosis (23.5 vs 33.5 weeks, p <0.001), smaller diameter on first prenatal ultrasound (15.8 vs. 39.7 mm, p <0.001), change in sonographic character from simple to complex (87% vs 22%, p <0.001), and postnatal sonographic characteristics of complex cyst (87% vs. 48%, p = 0.004). CONCLUSION: Clear organ of origin, diagnosis earlier in gestation, smaller initial prenatal cyst diameter, and sonographic cyst character change differentiate congenital non-ovarian cysts from their ovarian counterparts. These characteristics may be used to guide diagnosis and management.

Current perspective and scope of fetal therapy: part 1.

Fetal therapy term has been described for any therapeutic intervention either invasive or noninvasive for the purpose of correcting or treating any fetal malformation or condition. Fetal therapy is a rapidly evolving specialty and has gained pace in last two decades and now fetal intervention is being tried in many malformations with rate of success varying with the type of different fetal conditions. The advances in imaging techniques have allowed fetal medicine persons to make earlier and accurate diagnosis of numerous fetal anomalies. Still many fetal anomalies are managed postnatally because the fetal outcomes have not changed significantly with the use of fetal therapy and this approach avoids unnecessary maternal risk secondary to inutero intervention. The short-term maternal risk associated with fetal surgery includes preterm labor, premature rupture of membranes, uterine wall bleeding, chorioamniotic separation, placental abruption, chorioamnionitis, and anesthesia risk. Whereas, maternal long-term complications include risk of infertility, uterine rupture, and need for cesarean section in future pregnancies. The decision for invasive fetal therapy should be taken after discussion with parents about the various aspects like postnatal fetal outcome without fetal intervention, possible outcome if the fetal intervention is done, available postnatal intervention for the fetal condition, and possible short-term and long-term maternal complications. The center where fetal intervention is done should have facility of multi-disciplinary team to manage both maternal and fetal complications. The major issues in the development of fetal surgery include selection of patient for intervention, crafting effective fetal surgical skills, requirement of regular fetal and uterine monitoring, effective tocolysis, and minimizing fetal and maternal fetal risks. This review will cover the surgical or invasive aspect of fetal therapy with available evidence and will highlight the progress made in the management of fetal malformations in last two decades.

Outcomes of antenatally diagnosed fetal cardiac tumors: a 10-year experience at a single tertiary referral center.

OBJECTIVE: The purpose of this study was to analyze the clinical and perinatal outcomes along with ultrasonographic characteristics of fetuses with a cardiac tumor. METHODS: The data were obtained retrospectively between January 2010 and December 2019 in a tertiary referral center. The Cardiovascular Profile Score (CVPS) was used for the diagnosis of heart failure. Clinical outcomes of the cases identified in the postnatal period were analyzed. RESULTS: Fourteen cases were evaluated with the fetal cardiac tumor. One case made the decision to terminate the pregnancy. Perinatal death was seen in 4 (30.7 %) cases out of 13 cases. In 3/14 (21.4%) cases, a solitary cardiac tumor was found while multiple cardiac tumors were found in 11/14 (78.6%) cases. All living cases 9/9 (100%) had the diagnosis of tuberous sclerosis complex (TSC). When the cases which survived were compared with the cases which died during the prenatal period, a significant difference in tumors' biggest diameters (16.44 ± 5.12 mm vs. 32.25 ± 9.28 mm; p: .011, respectively) was found. No statistically significant difference was found in the number of the tumor(s) and heart failure. CONCLUSION: Fetal cardiac tumors can have serious perinatal mortality. The cardiac tumor size was found to be associated with perinatal mortality. The survival is not different between the cases with solitary and multiple tumors and those with and without congestive heart failure.

The role of perinatal palliative care following prenatal diagnosis of major, incurable fetal anomalies: a multicentre prospective cohort study.

OBJECTIVE: To describe prenatal decision-making processes and birth plans in pregnancies amenable to planning perinatal palliative care. DESIGN: Multicentre prospective observational study. SETTING: Nine Multidisciplinary Centres for Prenatal Diagnosis of the Paris-Ile-de-France region. POPULATION: All cases of major and incurable fetal anomaly eligible for TOP where limitation of life-sustaining treatments for the neonate was discussed in the prenatal period between 2015 and 2016. METHODS: Cases of congenital defects amenable to perinatal palliative care were prospectively included in each centre. Prenatal diagnosis, decision-making process, type of birth plan, birth characteristics, pregnancy and neonatal outcome were collected prospectively and anonymously. MAIN OUTCOME MEASURE: Final decision reached following discussions in the antenatal period. RESULTS: We identified 736 continuing pregnancies with a diagnosis of a severe fetal condition eligible for TOP. Perinatal palliative care was considered in 102/736 (13.9%) pregnancies (106 infants); discussions were multidisciplinary in 99/106 (93.4%) cases. Prenatal birth plans involved life-sustaining treatment limitation and comfort care in 73/736 (9.9%) of the pregnancies. The main reason for planning palliative care at birth was short-term inevitable death in 39 cases (53.4%). In all, 76/106 (71.7%) infants were born alive, and 18/106 (17%) infants were alive at last follow-up, including four with a perinatal palliative care birth plan. CONCLUSIONS: Only a small proportion of severe and incurable fetal disorders were potentially amenable to limitation of life-sustaining interventions. Perinatal palliative care may not be considered a universal alternative to termination of pregnancy. TWEETABLE ABSTRACT: Perinatal palliative care is planned in 10% of continuing pregnancies with a major and incurable fetal condition eligible for TOP.

Ventricular septal defect and aortic hypoplasia in congenital cytomegalovirus infection: occasional finding or underdetected correlation?

Background: While other viral infections occurring in early pregnancy are known to be associated with fetal cardiac malformations, little is known about CMV and its causative role. Only a few case repots have been described reporting a correlation between congenital CMV infection and cardiac defects.Case-report: We report the case of a 7-day-old neonate who was referred to our Pediatric Infectivology Department for maternal cytomegalovirus (CMV) seroconversion during the first trimester of pregnancy and confirmed congenital infection. At first evaluation, the baby presented with a cardiac murmur and signs of acute heart failure, along with jaundice and hypotonia. At cardiac ultrasound, a perimembranous doubly-committed ventricular septal defect and a reduced aortic isthmus diameter were revealed.Conclusion: Despite further large-scale prospective studies are needed to confirm or rule out this association, CMV DNA urine detection might be worth to be considered as part of the diagnostic process in neonates with isolated heart defects.