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Our practice utilizes Doppler ultrasound as one of the most objective and effective methods to assess at-risk pregnancies. This review will discuss the application of arterial and venous Doppler techniques in assessing and managing various diseases and conditions for high-risk fetuses. [ABSTRACT FROM AUTHOR]

Objectives: Mirror syndrome (MS) is a condition characterized by the presence of maternal, fetal, and placental edema and is reversible through delivery or pregnancy termination. As fetal hydrops itself may be amenable to treatment, we sought to determine outcomes for MS primarily managed by fetal therapy through a narrative review of the literature and cases managed at our fetal center. Study design: PubMed, Embase, Web of Science, Scopus, and Google Scholar databases were searched through January 2024 using key words: mirror syndrome, Ballantyne's syndrome, fetal hydrops, maternal hydrops, pseudotoxemia, triple edema, maternal recovery, fetal therapy, and resolution. Manuscripts describing primary management by fetal therapy that included maternal and fetal outcomes were identified. Clinical details of MS patients managed with fetal therapy at our center were also included for descriptive analysis. Results: 16 of 517 manuscripts (3.1%) described fetal therapy as the primary intended treatment in 17 patients. 3 patients managed at our center were included in the analysis. Among 20 patients undergoing primary fetal therapy for management of mirror syndrome, median gestational age of presentation was 24 weeks and 5 days gestation; predominant clinical findings were maternal edema (15/20), proteinuria (10/20), pulmonary edema (8/20), and hypertension (8/20); the primary laboratory abnormalities were anemia (8/20) and elevated creatinine or transaminases (5/20). Condition-specific fetal therapies led to resolution of hydrops in 17 (85%) cases and MS in 19 (95%) cases. The median time to hydrops resolution was 7.5 days and to resolution of mirror syndrome was 10 days. Fetal therapy prolonged pregnancy by a median of 10 weeks with a median gestational age of 35 weeks and 5 days at delivery. All women delivered for indications other than mirror syndrome and 19/20 fetuses survived. Conclusion: In appropriately selected cases, MS often resolves after fetal therapy of hydrops allowing for safe pregnancy prolongation with good maternal and infant outcomes. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the prevalence of chromosomal anomalies in fetuses affected by increased nuchal translucency(iNT >99Th centile), cystic hygroma (CH) and cases progressing to fetal hydrops (NIHF) in order to correlate this result to prognosis and perinatal fetal outcomes, improving patient's counseling. Methods: From January 2020 to December 2023, first trimester screening according to FMF criteria were performed in "Maternal fetal medicine Unit" of Foggia's hospital. We studied and collected clinical data of fetuses affected by nuchal translucency >99th centile (iNT), CH and cases progressing to Fetal Hydrops (non‐immune fetal hydrop, NIFH). In these selected cases, we evaluated fetal Karyotype to demonstrate the presence of chromosomal abnormalities, associated to fetal structural anomalies and different pregnancy outcome. Results: We have evaluated 45 cases of iNT, CH, and NIFH, identified by ultrasound during first trimester screening. Of these 45 pregnant women, four were lost to follow‐up. Of the 41 pregnancies, 20 cases (48.8%) delivered at our division with newborns discharged in good health. Of the 21 patients (51.2%) who miscarried, only two miscarried spontaneously; the other 19 decided on a medical termination of pregnancy (MTP). The 19 patients who decided for MTP showed genetic abnormalities and/or malformation. The 20 cases of fetuses discharged as healthy newborns were enrolled with the following diagnoses: 5 had a diagnosis of CH (20% of cases), 1 case of NIFH (5% of cases), and 14 of iNT (75% of cases). All these fetuses had a normal karyotype and no major malformations. Conclusions: Isolated CH diagnosis is more frequent than described in Literature (5 cases out of 12: 41.7%) and their prognosis are better than previously described, with the same outcomes of fetuses with iNT without associated anomalies. The possibility of early diagnosis of chromosomal anomalies, associated malformations or the evolution into hydrops is essential for a complete consultation. [ABSTRACT FROM AUTHOR]

Parvovirus B19 is a virus that causes a common and usually harmless infection in both children and adults. If the virus is transmitted transplacentally during pregnancy, it can have serious consequences for both the pregnant woman and the fetus. Potential complications include severe fetal anemia, which can lead to intrauterine fetal death. A common ultrasound finding in fetuses affected by parvovirus B19 is fetal edema, which is associated with a poor prognosis. Additionally, a rare but serious complication in pregnant women with parvovirus B19 infection is mirror syndrome. The diagnosis of parvovirus B19 infection during pregnancy necessitates close monitoring of the fetal condition. If fetal anemia is suspected, intrauterine transfusion is indicated to increase fetal survival. This study presents eight cases of parvovirus B19 infection in pregnant women, highlighting the various maternal-fetal complications encountered, along with diagnostic and treatment strategies. [ABSTRACT FROM AUTHOR]

Background: The surgical management of critical aortic stenosis, mitral regurgitation, and left ventricular dysfunction is a significant clinical challenge. Whether left ventricular function will recover to support systemic circulation after the relief of aortic stenosis is a concern. In this setting, surgical or balloon aortic valvotomy combined with bilateral pulmonary artery banding and atrial septectomy may allow time for left ventricular adaptation, while the systemic circulation is supported by the right ventricle through the ductus arteriosus. We describe the case of a premature neonate with critical aortic stenosis, severe mitral regurgitation, and fetal hydrops who successfully underwent staged biventricular repair after bilateral pulmonary artery banding, atrial septectomy, balloon aortic valvuloplasty, and stent implantation for ductus arteriosus. Case presentation: A 29-year-old female was referred to our hospital at 25 weeks of gestation with fetal echocardiography findings of critical aortic stenosis, severely impaired left ventricular function, severe mitral regurgitation, and restrictive foramen ovale. At 33 weeks of gestational age, the baby was born via cesarean delivery. Prostaglandin E1 infusion was immediately initiated, and the neonate underwent emergecy bilateral pulmonary artery banding and atrial septectomy. On the second day, a balloon aortic valvuloplasty was performed. The neonate underwent stent implantation to open the ductus arteriosus and multiple-balloon aortic valvuloplasty. At 4 months of age, he underwent biventricular repair consisting of surgical aortic valvuloplasty, atrial septal defect closure, bilateral pulmonary artery debanding, and ductus arteriosus ligation. At 1 year of age, he underwent the Ross –Konno procedure. Six years after the operation, the patient's general condition was stable, and the patient is doing well. Conclusions: Staged biventricular repair was successfully achieved in a premature neonate with fetal hydrops and critical aortic stenosis associated with severe mitral valve regurgitation and left ventricular dysfunction. [ABSTRACT FROM AUTHOR]

Objective: Recent advances in neonatal medicine have led to the improvements in diagnosis, prevention and management of fetal hydrops (HF). Although incidence of immune HF has significantly decreased, the incidence of non-immune HF has remained largely unchanged and mortality rate continues to be high, with rates up to 75.5%. Methods: A retrospective chart review of newborns who were admitted due to HF to the Institute of Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia, from January 1st, 2001 to January 1st, 2018. It involved the analysis of demographic, antenatal, and postnatal parameters as well as examination of etiology and outcome. Results: There were 18 cases of HF, comprising 12/18 (66.66%) males, 6/18 (33.34%) females. Mean gestational age was 34.96±3.15gw (min-max 29.43-41.00); mean birth weight 2564.44±652.45g (min-max 1510.00-3650.00), Etiology of fetal hydrops was determined in 14/18 (77.78%), newborns; in 6/18 (33.33%) newborns was of immune, and in 8/18 (44.45%) of non-immune origin. Death occurred in 10/18 (55.56%) newborns. Patients who did not survive were more frequently born from multiple pregnancies (p=0.03), had lower values of Apgar score 1st and 5th minutes (p=0.011; p=0.001, respectively), more frequently presented with pericardial effusions (p=0.002) and multiple sites of effusions (p=0.02), cardiac insufficiency (p=0.019), acute kidney injury (p=0.004) and lower values of pH (p=0.035). High-frequency oscillatory ventilation was more frequently used in this group (p=0.018). Conclusion: Mortality among newborn with HF remains high. Poor prognosis is associated with multiple pregnancies, lower Apgar scores, severe acidosis, as well as the presence of pericardial effusion, multiple sites of effusions, cardiac insufficiency and acute kidney injury, and use of high-frequency oscillatory ventilation as a life-saving mode of ventilation. [ABSTRACT FROM AUTHOR]

Parvovirus B19 is a virus that causes a common and usually harmless infection in both children and adults. If the virus is transmitted transplacentally during pregnancy, it can have serious consequences for both the pregnant woman and the fetus. Potential complications include severe fetal anemia, which can lead to intrauterine fetal death. A common ultrasound finding in fetuses affected by parvovirus B19 is fetal edema, which is associated with a poor prognosis. Additionally, a rare but serious complication in pregnant women with parvovirus B19 infection is mirror syndrome. The diagnosis of parvovirus B19 infection during pregnancy necessitates close monitoring of the fetal condition. If fetal anemia is suspected, intrauterine transfusion is indicated to increase fetal survival. This study presents eight cases of parvovirus B19 infection in pregnant women, highlighting the various maternal-fetal complications encountered, along with diagnostic and treatment strategies.

Abdulhakim Abdurahman Kureba,1 Wondimu Gudu,1 Anteneh Mersha,1 Elias Jemal,2 Abdulfetah Abdulkadir Abdosh1 1Department of Obstetrics and Gynecology, St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia; 2Department of Obstetrics and Gynecology, Haramaya University Hiwot Fana Comprehensive Specialized Hospital, Harar, EthiopiaCorrespondence: Abdulhakim Abdurahman Kureba, Department of Obstetrics and Gynecology, St. Paul’s Hospital Millennium Medical College, 1271, Swaziland St, Addis Ababa, Ethiopia, Tel +251911937561, Email abdulhakim317@gmail.comBackground: Isoimmunization is a process of immunizing an antigen-negative pregnant individual with a paternally derived fetal antigen. Although the Rh systems contain many antigen subtypes (D, C, c, E, e), the RhD antigen is highly immunogenic. This research aimed to investigate the perinatal Outcome of pregnant women with RhD sensitization at St. Paul’s Hospital Millennium Medical College (SPHMMC), Ethiopia.Methodology: A facility-based retrospective cross-sectional study was conducted on 98 pregnant women with RhD alloimmunization at SPHMMC from September 11, 2016, to September 10, 2021. SPSS 26 was used for data analysis. Descriptive statistics were utilized to assess the perinatal outcome of pregnant women with RhD alloimmunization. Fisher’s exact test was used to determine which association, and a P value < 0.05 was considered statistically significant.Results: From the 98 pregnancies (06 - hydropic, 92 - non-hydropic) at high risk for fetal anemia, 45.9% of cases had MCA-PSV above 1.5MoM. Among these, 21.42% of all fetuses received an intrauterine transfusion. Forty-three IUTs were performed in 21 fetuses. The median number of transfusions per fetus was two. About 52.4% of the transfused fetuses had severe anemia, and 28.6% had moderate anemia. Prediction of MCA PSV ≥ 1.5MOM in diagnosing moderate-severe anemia in pregnant women with RhD sensitization 81%. General neonatal survival of alloimmunizations was 93.8%, 90.5% with IUT, 50% with hydrops fetalis, and 96.7% without hydrops.Conclusion: This research provides evidence that MCA PSV ≥ 1.5MoM is modest predictor of moderate-severe anemia in untransfused fetuses. This study was a step toward the development of more extensive and multicenter studies on the Perinatal Outcome of pregnant women with RhD sensitization in Ethiopia. Extra studies are needed to evaluate strategies for estimates of fetal anemia after blood transfusion as a result of the absence of information on the IUT database.Keywords: intrauterine transfusion, RhD alloimmunization, fetal hydrops, fetal anemia

Purpose: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. Methods: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. Results: A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0–31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. Conclusion: IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome. [ABSTRACT FROM AUTHOR]

Background: Congenital pulmonary airway malformations (CPAMs) comprise a spectrum of anatomical anomalies of the lungs and respiratory tree. The natural history of prenatally diagnosed CPAM varies from in utero resolution to progression to hydrops and intrauterine death. The majority of fetuses (90%) have a good outcome. However, in a minority (10%), the mass may grow so large that it is associated with complications and becomes life-threatening to the fetus. Clinical Description: Prenatal diagnosis of giant left CPAM type 1 was made at 24 weeks of gestation in a 29-year-old primigravida woman. The lesion consisted of multiple large cysts with a CPAM volume ratio of 4.7. Since the diagnosis, the mass was associated with nonimmune fetal hydrops and polyhydramnios which got worse throughout the following 4 weeks of gestation. Doppler studies remained normal until term. Management: The family received prenatal counseling. Parents refused termination of pregnancy and any other invasive or pharmacological therapy in light of the bad prognosis. The pregnancy was strictly monitored using standard fetal lung parameters. By 31 weeks' gestation, hydrops spontaneously improved to resolution but without any change in the size of the cysts. A baby girl was delivered at term, with birth asphyxia, who, despite all efforts by a multidisciplinary team, could not be revived. Autopsy and histopathological findings were compatible with type 1 CPAM. Conclusion: Hydrops is a well-known complication in fetuses with congenital cystic adenomatoid malformation. The present case reminds the possibility of its spontaneous resolution during pregnancy, even though the cyst size remains unaltered. The eventual neonatal survival depends not on the presence of hydrops but on the cyst volume and underlying lung hypoplasia.

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Introduced: Erythema infectious disease is a childhood infectious disease associated with a rash caused by parvovirus B19. The infection is especially dangerous for pregnant women. The disease can lead to intrauterine anemia and miscarriage, even when the pregnant woman did not have any clinical signs of infection. Aim of the study: The aim of the study was to assess the level of women's knowledge about erythema infectious and its importance in pregnancy. Materials and methods: The study conducted in May 2023 covered 150 women in various age groups. The research material was collected using an anonymous online questionnaire. The obtained results were analyzed and verified on the basis of scientific literature. Results: The percentage of respondents who had contact with erythema infectious is 64.7% and 64% correctly indicated parvovirus B19 as the etiological factor of the disease. 78% of respondents know that infection with erythema infectious is dangerous for pregnant women. 51.3% of respondents confirm that parvovirus B19 can cause fetal hydrops and 61.3% of women clearly indicate that even an asymptomatic course of infection in pregnant women can be a threat to the fetus. Conclusions: Women have basic knowledge about erythema infectious and its negative impact on pregnancy, but do not know details about complications and treatment. Women should be educated about the risk factors for the disease its symptoms and the effects of the disease. The aim is to minimize the risk of infection during pregnancy.

Introduction: We aimed to identify maternal and fetal complications and investigate postnatal and long-term outcomes of fetal hydrothorax (FHT) treated with pleuro-amniotic shunting (shunt). Methods: Single-center retrospective observational cohort of shunt cases performed from 2000 to 2021. Risk factors for maternal complications, fetal demise, neonatal death (NND), and postnatal outcomes were identified. Results: Out of 88 cases, 70 (79.5%) were complicated by hydrops, with an average gestational age (GA) at diagnosis of 27 weeks (range 16–34). In 16 cases, definitive etiology of FHT was identified; five cases of Noonan syndrome and three cases of monogenic disorders diagnosed by whole-exome sequencing (EPHB4, VEGFR3, RASA1). Shunt was performed at an average GA of 28 weeks (20–34), with a dislodgement in 10 cases (11.4%). Maternal: Complications occurred in three cases; survival rate was 76.1% (67/88). Follow-up data were available for 57/67 (85.1%) children. Incidence of severe neurodevelopmental impairment and pneumopathy (broncho dysplasia, persistent pulmonary hypertension of newborn, and asthma) was 5.3% and 8.8%, respectively. Post-treatment persistence of hydrops, FHT associated with genetic syndromes, and GA at birth were risk factors for fetal demise, NND, and postnatal complications. Conclusion: In truly isolated FHT, whenever indicated, pleuro-amniotic shunting is a safe procedure associated with good survival rate and long-term outcome. [ABSTRACT FROM AUTHOR]

Objective. To describe the case of a large cervical mass diagnosed in the late third trimester with development of Kasabach-Merritt phenomenon (KMP) in the immediate postnatal period, along with a literature review. Methods. Description of case-report and literature search through Medline/Pubmed, performed from inception to December 2022 for articles relating to the pre and postnatal diagnosis of KMP. Results. A 36-year-old multiparous woman was admitted to hospital for contractions at 40 weeks of gestation, in an otherwise uneventful pregnancy. Admission's ultrasound showed the presence of a voluminous mass of 14x15 cm of the posterior side of the neck, highly vascularized, and no signs of hemodynamic imbalance. Postnatally, blood tests showed the presence of severe anemia and thrombocytopenia requiring several transfusions of blood, plasma, platelets and clotting factors. Due to the association of congenital hemangioma and thrombocytopenia a diagnosis of KMP was made. After attempts of conservative treatment, surgical removal was needed to stop the hematological cascade with regression of symptoms. The review of the literature identified 14 articles including 9 cases of prenatally suspected KMP and 6 diagnosed in the immediate postnatal period and without signs of fetal hydrops. Adverse perinatal outcome, in terms of postnatal death/termination of pregnancy, was observed in 67% of cases (6/9) in the prenatally suspected group and 33% of cases in those with a postnatal diagnosis of KMP. Fetal hydrops was present in 83% of cases with adverse perinatal outcome. Conclusions. The Kasabach-Merrit syndrome is a rare condition, which can have a dangerous evolution when it develops in utero or in the immediate postnatal period carrying a risk of perinatal mortality of approximately 50%. Even if the fetus shows no signs of anemia or heart failure, the risk of developing it in the immediate postnatal period is high and should be mentioned to the couple. [ABSTRACT FROM AUTHOR]

Congenital pulmonary airway malformations (CPAMs) are rare sporadic lesions frequently associated with poor fetal prognosis. Type 3 CPAMs are characterized by small hyperechogenic cysts (<5 mm). Hydrops often develops secondarily, and the fetal survival rate is approximately 5% in this setting. We present a case of a large type 3 CPAM complicated by fetal hydrops. The lesion was detected at 19 gestational weeks (GW) and confirmed by fetal MRI at 29 GW. At 22 GW, a course of maternal steroids was given as a possible treatment of type 3 CPAM. Peritoneal-amniotic shunt was placed twice to reduce fetal ascites, with unsatisfactory results. Similarly, polyhydramnios was relieved by two amnioreductions, but redeveloped soon after. A baby girl was delivered spontaneously at 33 GW and received a two-stage partial lobectomy in the first three months of life. Desaturations necessitated challenging invasive oscillatory ventilation between stages. Her outcome is unexpectedly positive and she may expect a good quality of life. She now approaches one year of age, with near-to-normal growth and developmental milestones. Type 3 CPAMs complicated by fetal hydrops are associated with high perinatal mortality. While open fetal surgery remains a viable option in select specialist centers, antenatal interventions are typically ineffective. The survival of this infant can be attributed to prenatal management and early postnatal surgical intervention. The lack of guidelines for ventilation in this setting was a significant challenge for neonatal intensivists. Multidisciplinary vigilance and collaboration with frequent specialist follow ups were the key to success for both mother and child. [ABSTRACT FROM AUTHOR]

Objectives: Although many studies have supported the efficacy of transplacental treatment for fetal supraventricular tachyarrhythmias, the long-term neurodevelopmental outcome after antenatal antiarrhythmic treatment is not well understood. The aim of this study was to clarify prognosis and neurodevelopmental outcome after protocol-defined antenatal therapy for fetal supraventricular tachyarrhythmias, in addition to the incidence of tachyarrhythmias after birth.Methods: This 3-year follow-up study of a multicenter trial for fetal supraventricular tachycardia and atrial flutter evaluated the primary endpoint of mortality and neurodevelopmental impairment (NDI). NDI was defined as any of the following outcomes: cerebral palsy, bilateral blindness, bilateral deafness, or neurodevelopmental delay. The detection rate of tachyarrhythmia was also evaluated as the secondary endpoint. In addition, the correlations between NDI and perinatal factors or postnatal factors were analyzed at 36 months of corrected age.Results: Of 50 patients, the exclusions during the protocol-defined transplacental treatment were 1 patient because of withdrawal of consent and 2 patients with fetal death, leaving 47 patients available for enrollment in this follow-up study. Among these 47 neonates, 45 were available for analysis after 2 were lost to follow-up. The mortality rate was 2.2% (1/45) during a median follow-up of 3.2 years (2.1-9.4 years). Of these 45 infants, 2 dropped out, of whom 1 died at age 2.1 years, and 1 had missing neurodevelopmental assessment data. For the remaining 43 infants, at 36 months of corrected age, NDI was detected in 9.3% (4/43) of infants overall and in 2 of 3 infants of fetal hydrops with subcutaneous edema; cerebral palsy was found in 2 infants with severe subcutaneous edema or ascites at early gestational age; and neurodevelopmental delay was found in 2 infants with tuberous sclerosis or heterotaxy syndrome. Tachyarrhythmias were present in 31.9% (15/47) in the neonatal period and gradually decreased to 8.9% (4/45) and 4.5% (2/44) at 18 and 36 months of corrected age, respectively. The ventricular rate at diagnosis was significantly higher in infants with NDI than those without (median, 265 bpm vs. 229 bpm, P=0.003). In infants with NDI, fetal hydrops with subcutaneous edema at diagnosis was more common (50.0% vs. 2.6%, P=0.019), and the duration of fetal effusion was longer (median, 10.5 days vs. 0 day, P=0.013) than those without. Whereas postnatal arrhythmia and physical development abnormalities were not associated with NDI.Conclusions: Our multicenter 3-year follow-up study was the first to demonstrate the long-term mortality and morbidity of infants born with protocol-defined transplacental treatment for fetal supraventricular tachycardia and atrial flutter. NDI was associated with the presence of fetal hydrops with subcutaneous edema at diagnosis and longer duration of fetal effusion. Neurodevelopmental delay was detected only in infants with severe congenital abnormalities. Therefore, the risk of NDI was rather low in the absence of other comorbidities. The risk for long-term neurologic morbidity might be considered, especially in cases of fetal hydrops with subcutaneous edema and/or associated severe congenital abnormalities. This article is protected by copyright. All rights reserved. [ABSTRACT FROM AUTHOR]

Although placental chorangiomas are often asymptomatic, larger tumors (>4–5 cm) can cause various perinatal complications, including polyhydramnios, preterm birth, fetal anemia, fetal hydrops, and intrauterine fetal death. Symptomatic placental chorangiomas are often diagnosed prenatally on ultrasonography as a mass on the fetal side of the placenta. A 37-year-old pregnant woman underwent emergency cesarean delivery at 34 weeks' gestation due to rapidly progressive fetal hydrops leading to fetal dysfunction, resulting in neonatal death. Placental pathology indicated multiple placental giant chorangiomas that occupied 40% of the placenta. Because of the disk shape of the placenta, prenatal diagnosis by ultrasonography was difficult. Some placental chorangiomas are difficult to diagnose and lead to fetal hydrops and poor prognosis, even if ultrasonography does not show an obvious mass in the placenta. [ABSTRACT FROM AUTHOR]

Desbuquois dysplasia (DBQD) is an uncommon, autosomal recessive disorder with multiple joint dislocations. It is caused by pathogenic variants in CANT1 (calcium-activated nucleotidase 1) [NM_001159773.2]. This study adds to the scant data of nine reported antenatal phenotypes of DBQD. The present paper describes two unrelated consanguineous families with antenatal features of lethal skeletal dysplasia. The defining radiological changes were identified in only one patient who presented in the late second and third trimesters. Solo exome sequencing was performed and two previously reported homozygous variants c.896C>T (p.Pro299Leu) in patient 1 and c.902_906dup (p.Ser303fs*20) in patient 2 were identified. This study highlights the fetal presentations in DBQD and adds to its phenotypic spectrum. A complete clinical workup, including fetal autopsy and radiographs is essential to confirm the diagnosis of lethal skeletal dysplasia. Molecular diagnosis remains the diagnostic modality to define the causative variant. A definitive diagnosis is essential to inform management and offer reproductive care. [ABSTRACT FROM AUTHOR]

Abstract Objective Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM). Methods A systematic search of PubMed, Embase, Web of Science, CNKI, VIP, and Wanfang published before 7/30/2021 for the value of a congenital pulmonary airway malformation volume ratio (CVR) cut-off value of 1.6 for the diagnosis of fetal hydrops. According to the inclusion and exclusion criteria, the literature that met the requirements were obtained. A total of 75 articles were retrieved, and 12 articles were included for further analysis. The quality of these studies was evaluated according to the Quality Assessment for Studies of Diagnostic Accuracy tool (QUADAS-2) criteria. The Q test and heterogeneity I2 were used to evaluate the heterogeneity due to non-threshold effects, and Stata 15.0 was used for statistical analysis to evaluate the diagnostic value of the CVR cutoff value of 1.6 for fetal hydrops due to CLM. Results A total of 12 studies were included. The QUADAS-2 indicated that the risk of bias was relatively low, and the clinical applicability was relatively high. Statistical analysis was performed on included studies using a random effect model. Meta-analysis showed that the pooled sensitivity, specificity, diagnostic ratio and summary receiver operating characteristic (SROC) for the diagnosis of fetal hydrops by CVR were 0.86 (95% CI, 0.72–0.93; I 2 = 59.84), 0.90 (95% CI, 0.88–0.93; I 2 = 31.94), 58 (95% CI, 22–149; I 2 = 100%), 0.93 (95% CI, 0.91–0.95). Conclusions The sensitivity and specificity of CVR cut-off value 1.6 for the diagnosis of CLM-induced fetal hydrops were high, no publication bias was observed, and the CVR cut-off value 1.6 is meaningful for the early diagnosis prediction of CLM-induced fetal hydrops.

• Serology and PCR are essential to diagnose B19 V infection in pregnancy and at birth. • The B19 V infection rate during pregnancy among symptomatic patients was 8.2 %. • B19 V detection in asymptomatic mothers and newborns was 8.4 %. • Late suspicion/diagnosis still aids in TORCH infection management and surveillance. • Complete genome sequencing identified B19 V genotype 1a circulating in Argentina. Parvovirus B19 (B19 V) infection during pregnancy can cause adverse fetal outcomes. Our aim was to characterize both clinical and asymptomatic maternal and neonatal cases by studying virological and serological markers of B19 V infection, and to sequence the complete genome of the circulating virus in Argentina. Symptomatic patients were included based on maternal and/or fetal-neonatal signs attributable to B19 V infection during gestation. Pregnant patients were analyzed in either the timely diagnosis group (TD, samples obtained when symptoms were present and infection was suspected) or the retrospective diagnosis group (RD, samples collected immediately postpartum), and newborns were analyzed at birth. A sample of asymptomatic individuals was also analyzed. Diagnostic tests (PCR/qPCR/serology) and sequencing were performed on archived serum samples from 2018 to 2023, and clinical data were obtained from medical records. We studied 328 symptomatic patients, including 185 pregnant patients (73 TD and 112 RD) and 143 newborns. Among them, we identified 27/328 (8.2 %) positive cases (B19V+): 12/73 (16.4 %) in the TD group, 6/112 (5.4 %) in the RD group, and 9/143 (6.3 %) newborns. Within the 77 mother-newborn pairs included, there were 8 (10.4 %) B19 V infections and 6 cases of vertical transmission. Additionally, B19 V infection was detected in 26/310 (8.4 %) asymptomatic patients. Phylogenetic analysis identified genotype 1a as a circulating strain in Argentina. Our findings highlight the need to raise awareness and enhance diagnostic approaches in Argentina to more effectively identify and manage B19 V infections during pregnancy in our region. [ABSTRACT FROM AUTHOR]

We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to fetal distress at 301/7 weeks' gestation. Physical examination and X-rays revealed pleural effusion, ascites, and generalized edema, indicating severe fetal hydrops. He underwent tracheal intubation because of respiratory distress that was attributed to massive ascites, pulmonary hypoplasia, and pulmonary hypertension. He received mechanical ventilation and inhaled nitric oxide therapy. Prednisone, octreotide, and a factor XIII preparation were used as the treatment for ascites, and the ascites gradually decreased. He was extubated within 2 months of age. At 4 months of age, the results of whole-exome sequencing of the cord blood showed a compound heterozygous mutation in the GUSB gene, the gene responsible for MPS VII. Enzyme replacement therapy was initiated, and the ascites was resolved. Careful systemic management, including lung-protective respiratory management and the early establishment of nutrition, is important for the long-term survival of infants with fetal hydrops, and early aggressive workup, including whole-genome sequencing for the cause, should be performed in the case of refractory ascites.

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of congenital arrhythmia occurring predominantly in infants and children. Prenatal presentation is frequently characterized by incessant tachycardia leading to dilated cardiomyopathy (DCM). Some patients can have a normal heart rate which leads to a delayed diagnosis. We report a case of a neonate who was presented prenatally with DCM, fetal hydrops, and no signs of fetal arrhythmia. Diagnosis of PJRT was established after delivery with characteristic electrocardiographic patterns. Successful conversion to sinus rhythm with digoxin and amiodarone was achieved three months later. At 16 months of age, both echocardiography and electrocardiography were normal. • PJRT in fetal period can occur even at normal fetal heart rate. • Fetal dilative cardiomyopathy and hydrops should lead to a suspicion for PJRT. • Early recognition of PJRT can be facilitated by typical postnatal ECG patterns. [ABSTRACT FROM AUTHOR]

Introduction: Most cases of bronchopulmonary sequestration (BPS) regress. Prenatal intervention is needed in cases of fetal hydrothorax or hydrops. Laser is commonly used to ablate the feeding artery. Case Presentation: In a fetus with BPS, radiofrequency ablation (RFA) was used to ablate the feeding artery arising from descending aorta at 29 weeks gestation. There was an extralobar BPS and significant pleural effusion causing mediastinal shift and collapse of lung. The effusion and tumor started decreasing from day 3 after procedure, and by the time patient delivered at 36 weeks gestation, the lesion had almost resolved. Conclusion: With proper technique, RFA can be safely used to ablate feeding artery in BPS. [ABSTRACT FROM AUTHOR]

Fetal mediastinal teratomas are rare tumors that can lead to serious complications such as fetal hydrops and intrauterine fetal death. Early prenatal diagnosis is critical in patient counseling, management, and preparation for postnatal interventions. In this report, we present the case of a 27-year-old woman in the second trimester of a dichorionic diamniotic twin pregnancy, in which the presenting fetus was diagnosed with a mediastinal teratoma and subsequently developed fetal hydrops, leading to intrauterine death. The diagnosis was initially made via ultrasound and the second twin exhibited no major anomalies. Following the fetal demise of the affected twin, a cesarean section was performed due to suspected maternal complications, and the surviving twin was delivered prematurely. This case highlights the importance of multidisciplinary collaboration in the management of complex twin pregnancies and underscores the challenges of diagnosing and managing rare fetal anomalies., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Freire Gameiro et al.)

Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling. [ABSTRACT FROM AUTHOR]

Abstract Background Mirror syndrome (MS) is a rare obstetric disorder complicated with high maternal morbidity and fetal mortality. MS is often misdiagnosed or underdiagnosed due to the low incidence and lack of awareness of its diverse features. This study aimed to summarise the etiology, clinical characteristics, and risk factors of MS among mothers with fetal hydrops. Methods This retrospective case-control study included 37 pregnant women with fetal hydrops in the second and third trimesters from 58,428 deliveries performed at the Third Affiliated Hospital of Sun Yat-Sen University between January 2012 and December 2020. Cases were categorized as MS and non-MS according to the presence or absence of maternal mirroring symptoms. Binary logistic regression was performed for analysis. Results Fourteen women developed MS with an overall incidence of 0.024% (14/58,428) and 37.8% (14/37) in the fetal hydrops cases. Among the 11 MS cases with known associated etiologies, seven had alpha thalassemia major. Onset of fetal hydrops was later (27.8 vs. 23.0 weeks) and the rate of placental thickening was higher (85.7% vs. 34.8%) in the MS group than in the non-MS group (P

Congenital diaphragmatic hernia (CDH) is a common cause of neonatal mortality. If CDH is associated with non-immune fetal hydrops (FH), the mortality rate is even higher. However, the pathogenesis and management of FH associated with CDH are still under discussion. We present here a case of left-sided CDH accompanied by prolonged FH, where unexpected ileal perforation developed after CDH repair.The female patient was diagnosed with left-sided CDH with right-sided pleural effusion (PE) at 26 weeks' gestation. At 35 weeks' gestation, FH progressed with bilateral PE and the patient was delivered by cesarean section with a body weight of 2068 g and Apgar 3/7. Subcutaneous edema progressed, but PE attenuated with improvement of pulmonary hypertension, and CDH repair was performed on Day 4. Postoperatively, the patient's pulmonary hypertension worsened, and intestinal perforation was observed on Day 11. In the emergency laparotomy, there was a single small bowel perforation of 5 mm in diameter in the terminal ileum. A 5 cm of the ileum was resected and the bowel was anastomosed in a single stage. The patient was weaned from the ventilator on Day 28. Although bilateral periventricular leukomalacia was confirmed, the patient was discharged without significant neurological symptoms on Day 76.

Abstract Background Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult. Case presentation A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition. Conclusions This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.

Objective: Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM).Methods: A systematic search of PubMed, Embase, Web of Science, CNKI, VIP, and Wanfang published before 7/30/2021 for the value of a congenital pulmonary airway malformation volume ratio (CVR) cut-off value of 1.6 for the diagnosis of fetal hydrops. According to the inclusion and exclusion criteria, the literature that met the requirements were obtained. A total of 75 articles were retrieved, and 12 articles were included for further analysis. The quality of these studies was evaluated according to the Quality Assessment for Studies of Diagnostic Accuracy tool (QUADAS-2) criteria. The Q test and heterogeneity I2 were used to evaluate the heterogeneity due to non-threshold effects, and Stata 15.0 was used for statistical analysis to evaluate the diagnostic value of the CVR cutoff value of 1.6 for fetal hydrops due to CLM.Results: A total of 12 studies were included. The QUADAS-2 indicated that the risk of bias was relatively low, and the clinical applicability was relatively high. Statistical analysis was performed on included studies using a random effect model. Meta-analysis showed that the pooled sensitivity, specificity, diagnostic ratio and summary receiver operating characteristic (SROC) for the diagnosis of fetal hydrops by CVR were 0.86 (95% CI, 0.72-0.93; I2 = 59.84), 0.90 (95% CI, 0.88-0.93; I2 = 31.94), 58 (95% CI, 22-149; I2 = 100%), 0.93 (95% CI, 0.91-0.95).Conclusions: The sensitivity and specificity of CVR cut-off value 1.6 for the diagnosis of CLM-induced fetal hydrops were high, no publication bias was observed, and the CVR cut-off value 1.6 is meaningful for the early diagnosis prediction of CLM-induced fetal hydrops. [ABSTRACT FROM AUTHOR]

Introduction: Congenital pulmonary airway malformations (CPAMs) complicated by hydrops portend significant morbidity and mortality, with fetal survival estimates less than 10%. Case Presentation: We report successful use of ultrasound-guided radiofrequency ablation at 21-week gestation in a hydropic fetus with CPAM, with subsequent resolution of hydrops. Thirty-two-week MRI noted persistent mediastinal shift, and US at 36 weeks and 5 days noted polyhydramnios. Maternal gestational hypertension prompted delivery at 37 weeks, with a cesarean section performed after a failed trial of labor. The infant required CPAP at 100% and weaned to 21%. Tachypnea persisted, and chest CT on day of life 2 demonstrated multiple large cysts in the right lower lobe with anterior pneumothorax. On day of life 3, she successfully underwent a thoracoscopic right lower lobectomy. Adhesions to the chest wall and rib abnormalities were noted. She was extubated to CPAP at the conclusion of the procedure. She was able to wean to 21% on POD2 and transitioned to oral feeds. Her chest tube was removed with resultant ex vacuo pneumothorax noted. She remained asymptomatic and was discharged home on room air POD11. Pathology confirmed a type 1 CPAM. Conclusion: In utero radiofrequency ablation may be an adjunct to the management of large CPAM. [ABSTRACT FROM AUTHOR]

(1) Background: Severe fetal hydrothorax can be treated by intrauterine thoracoamniotic shunting (TAS). The aim of this study was to assess perinatal outcome and complication rates of TAS with a novel Somatex intrauterine shunt. (2) Methods: This is a single-center retrospective study of all fetuses with hydrothorax treated with TAS using a Somatex shunt between 2014 and 2020. (3) Results: A total of 39 fetuses were included in the study. Mean gestational age at first intervention was 27.4 weeks (range 19–33). Of these, 51% (n = 20) of fetuses had fetal hydrops, which resolved in 65% (13/20) before delivery. The live birth rate was 97% (n = 38), and 74% (n = 29) survived the neonatal period. The rate of postnatal pulmonary complications was high, with 88% of neonates requiring any kind of ventilatory support. There were 23% (n = 9) genetic abnormalities (trisomy 21 and Noonan syndrome). (4) Conclusions: TAS with a Somatex shunt has a high technical success rate, leading to high neonatal survival rates. Pregnancy and neonatal outcome is comparable to TAS for fetal hydrothorax using different shunt types. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the survival rate of hydrops fetalis after fetal interventions and neonatal intensive care. Methods: We reviewed the medical records of patients diagnosed with hydrops fetalis from January 2009 to December 2019 at Changhua Christian Children's Hospital. All cases had abnormal fluid accumulation in at least two body compartments during pre- and postnatal examination. The primary outcome measure was the mortality rate. We also collected information regarding disease etiology, duration of hospital stay, Apgar score, gestational age at birth, initial hydrops fetalis diagnosis, fetal intervention, first albumin and pH levels, and maternal history. Results: Of the 42 cases enrolled, 30 survived and 12 died; the mortality rate was 28.6%. Furthermore, 22 cases received fetal intervention, while 20 cases did not; there was no significant difference in their survival rates (75% and 68%, respectively). Survival rate was associated with gestational age at birth, initial diagnosis time, birthweight, Apgar score, initial albumin and pH levels, and gestational hypertension. Only one case was immune-mediated. Among the nonimmune-mediated cases, the three most common etiologies were lymphatic dysplasia (12/42), idiopathic disorders (10/42), and cardiovascular disorders (5/42). Conclusions: Overall, hydrops fetalis was diagnosed early, and fetal intervention was performed in a timely manner. Preterm births were more frequent, and birthweight was lower in the cases that underwent fetal intervention than in those that did not, but there was no significant between-group difference in mortality. The initial diagnosis time, gestational age at birth, birthweight, Apgar score, and first albumin and pH levels were independently associated with mortality. [ABSTRACT FROM AUTHOR]

Abstract Background Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary immunodeficiency syndrome of X-linked recessive inheritance due to FOXP3 gene variants. It is characterised by the development of multiple autoimmune disorders in affected individuals. Case presentation We present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for ‘unexplained’ fetal hydrops that may present after the first trimester. Discussion and conclusions In all similar cases, the pathological process begins during intrauterine life. Furthermore, there are no survivors described. Consequently, this variant should be considered as a severe one, associated with intrauterine life onset and fatal course, i.e., the most severe IPEX phenotype.

Preeclampsia is a devastating medical complication of pregnancy that can lead to significant maternal and fetal morbidity and mortality. It is currently believed that there is abnormal placentation in as early as the first trimester in women destined to develop preeclampsia. Although the etiology of the abnormal placentation is being debated, numerous epidemiologic and experimental studies suggest that imbalances in circulating angiogenic factors released from the placenta are responsible for the maternal signs and symptoms of preeclampsia. In particular, circulating levels of soluble fms-like tyrosine kinase 1, an antiangiogenic factor, are markedly increased in women with preeclampsia, whereas free levels of its ligand, placental, growth factor are markedly diminished. Alterations in these angiogenic factors precede the onset of clinical signs of preeclampsia and correlate with disease severity. Recently, the availability of automated assays for the measurement of angiogenic biomarkers in the plasma, serum, and urine has helped investigators worldwide to demonstrate a key role for these factors in the clinical diagnosis and prediction of preeclampsia. Numerous studies have reported that circulating angiogenic biomarkers have a very high negative predictive value to rule out clinical disease among women with suspected preeclampsia. These blood-based biomarkers have provided a valuable tool to clinicians to accelerate the time to clinical diagnosis and minimize maternal adverse outcomes in women with preeclampsia. Angiogenic biomarkers have also been useful to elucidate the pathogenesis of related disorders of abnormal placentation such as intrauterine growth restriction, intrauterine fetal death, twin-to-twin transfusion syndrome, and fetal hydrops. In summary, the discovery and characterization of angiogenic proteins of placental origin have provided clinicians a noninvasive blood-based tool to monitor placental function and health and for early detection of disorders of placentation. Uncovering the mechanisms of altered angiogenic factors in preeclampsia and related disorders of placentation may provide insights into novel preventive and therapeutic options. [ABSTRACT FROM AUTHOR]

ZNHIT3 (zinc finger HIT type containing protein 3) is an evolutionarily conserved protein required for ribosome biogenesis by mediating the assembly of small nucleolar RNAs (snoRNAs) of class C/D into ribonucleoprotein complexes (snoRNPs). Missense mutations in the gene encoding ZNHIT3 protein have been previously reported to cause PEHO syndrome, a severe neurodevelopmental disorder typically presenting after birth. We discuss here the case of two fetuses from a single family who presented with isolated hydrops during the early second trimester of pregnancy, resulting in intrauterine demise. Autopsy revealed no associated malformation. Through whole-genome quartet analysis, we identified two novel variants within the ZNHIT3 gene, both inherited from healthy parents and occurring as compound heterozygotes in both fetuses. The c.40T>C p.Cys14Arg variant originated from the father, while the c.251&#95;254delAAGA variant was of maternal origin. Analysis of the variants in human cell culture models reveals that both variants reduce cell growth, albeit to different extents, and impact the protein's stability and function in distinct ways. The c.251&#95;254delAAGA results in production of a stable form of ZNHIT3 that lacks a domain required for mediating snoRNP biogenesis, whereas the c.40T>C p.Cys14Arg variation behaves similarly to the previously described PEHO-associated ZNHIT3 variants that destabilize the protein. Interestingly, both variations lead to a marked decrease in specific box C/D snoRNA levels, reduced rRNA levels and cellular translation. Analysis of rRNA methylation pattern in fetus samples reveals distinct sites of hypo 2'-O-methylation. RNA-seq analysis of undifferentiated and differentiated SHSY5Y cells transfected with the ZNHIT3 variants reveals differential expression of a set of genes, many of which are associated with developmental processes and RNA binding compared to cells expressing wild-type ZNHIT3. In summary, this work extends the phenotype of PEHO syndrome to include antenatal manifestations and describe the molecular defects induced by two novel ZNHIT3 variants., Competing Interests: Competing interests The authors report no competing interests.

Mirror syndrome (MS) or Ballantyne’s syndrome is a rare maternal condition that can be life-threatening for both mother and fetus. The condition is characterized by maternal signs and symptoms similar to those seen in preeclampsia in the setting of fetal hydrops. Despite recent advances in the field of maternal-fetal medicine, the etiopathogenesis of MS remains elusive. For patients and doctors, the COVID-19 pandemic has become an extra hurdle to overcome. The following case illustrates how patients’ non-compliance associated with mirror syndrome and SARS-CoV-2 infection led to the tragic end of a 19-year-old patient. Therefore, knowledge of the signs and symptoms of mirror syndrome should always be part of the armamentarium of every obstetrician. [ABSTRACT FROM AUTHOR]

Background: Mirror syndrome (MS) is a rare obstetric disorder complicated with high maternal morbidity and fetal mortality. MS is often misdiagnosed or underdiagnosed due to the low incidence and lack of awareness of its diverse features. This study aimed to summarise the etiology, clinical characteristics, and risk factors of MS among mothers with fetal hydrops.Methods: This retrospective case-control study included 37 pregnant women with fetal hydrops in the second and third trimesters from 58,428 deliveries performed at the Third Affiliated Hospital of Sun Yat-Sen University between January 2012 and December 2020. Cases were categorized as MS and non-MS according to the presence or absence of maternal mirroring symptoms. Binary logistic regression was performed for analysis.Results: Fourteen women developed MS with an overall incidence of 0.024% (14/58,428) and 37.8% (14/37) in the fetal hydrops cases. Among the 11 MS cases with known associated etiologies, seven had alpha thalassemia major. Onset of fetal hydrops was later (27.8 vs. 23.0 weeks) and the rate of placental thickening was higher (85.7% vs. 34.8%) in the MS group than in the non-MS group (P < 0.05). Regarding maternal characteristics, the MS group had higher maternal morbidity (85.7% vs. 8.7%), more weight gain (9.0 vs. 5.5 kg), higher rates of hypertension (35.7 vs. 0%) and proteinuria (64.3% vs. 4.3%), and lower levels of hemoglobin (88 vs. 105 g/L) and serum albumin (25.8 vs. 35.0 g/L) than the non-MS group (P < 0.05). Logistic regression analysis showed that onset of fetal hydrops at ≥24 weeks and placental thickening were associated with the risk of MS among fetal hydrops cases (OR 15.83, 95% CI 1.56-160.10 and OR 8.63, 95% CI 1.29-57.72, respectively).Conclusions: MS is relatively common among fetal hydrops cases in the late second and third trimesters, and alpha thalassemia major is the main etiology for fetal hydrops and also MS in this population. Complicated with high maternal morbidity, the key maternal features of MS include more weight gain, hemodilution, and hypertension. Among those with fetal hydrops, the onset time of ≥24 weeks and placental thickening are risk factors for MS. [ABSTRACT FROM AUTHOR]

Objective: To assess the frequency of IUDs and their possible causes since the Covid-19 pandemic. Material and Methods:. Study design: Cross-sectional study. Setting: Department of Obstetrics and Gynaecology, Shalamar Hospital, Medical and Dental College, Lahore, Pakistan. Duration of study: 15/03/2020 to 15/06/2020 This is a cross-sectional single-center study. The relevant details about IUDs like age, parity, social status, booked status, comorbidities, and social status were entered into a Performa and the data analyzed. Results: The Intrauterine death rate from the study was 41.99 fetal deaths per 1000 live births (Total births: 643, IUDs: 27) while the mean age of the mothers was 29.67 with a minimum age of 22 years and a maximum of 37 years. According to the risk factors associated with the IUD, 11.1% had Pregnancy Induced hypertension, 11.1% had Pre-Eclampsia, 22.2% had Gestational Diabetes Mellitus and 22.2% Pregnancy Induced Hypertension and Gestational Diabetes Mellitus and 33.3% had no comorbidities. Amongst all the patients 33.3% of cases were unbooked. Conclusion: We conclude that in the last one year the fetal deaths per 1000 at Shalamar Hospital were around 28.57 per 1000 live births, during the last 3 months they gone up to 41.99 fetal deaths per 1000 live births. The leading cause(s) for IUDs in Pregnancy during the Covid-19 were pandemic Induced Hypertension and Gestational Diabetes Mellitus, which cumulatively account for 44.4% cases but 33.3% cases had no co-morbidities and still ended up in an Intra-Uterine death, which may or may not have been influenced by a Covid-19 infection. From the looks of it, Non-clinical reasons seem to have a higher probability of increasing the IUD rate but clinical effects of the Covid-19 infection can also not be ruled out completely, further studies are required into the pathogenesis and the effect of Covid-19 on pregnancy. [ABSTRACT FROM AUTHOR]

Abstract We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance. This case highlights the need to understand the various limitations and strengths of NIPT technology when counseling patients.

Background: Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult.Case Presentation: A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition.Conclusions: This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the survival rate of hydrops fetalis after fetal interventions and neonatal intensive care. Methods: We reviewed the medical records of patients diagnosed with hydrops fetalis from January 2009 to December 2019 at Changhua Christian Children’s Hospital. All cases had abnormal fluid accumulation in at least two body compartments during pre- and postnatal examination. The primary outcome measure was the mortality rate. We also collected information regarding disease etiology, duration of hospital stay, Apgar score, gestational age at birth, initial hydrops fetalis diagnosis, fetal intervention, first albumin and pH levels, and maternal history. Results: Of the 42 cases enrolled, 30 survived and 12 died; the mortality rate was 28.6%. Furthermore, 22 cases received fetal intervention, while 20 cases did not; there was no significant difference in their survival rates (75% and 68%, respectively). Survival rate was associated with gestational age at birth, initial diagnosis time, birthweight, Apgar score, initial albumin and pH levels, and gestational hypertension. Only one case was immune-mediated. Among the nonimmune-mediated cases, the three most common etiologies were lymphatic dysplasia (12/42), idiopathic disorders (10/42), and cardiovascular disorders (5/42). Conclusions: Overall, hydrops fetalis was diagnosed early, and fetal intervention was performed in a timely manner. Preterm births were more frequent, and birthweight was lower in the cases that underwent fetal intervention than in those that did not, but there was no significant between-group difference in mortality. The initial diagnosis time, gestational age at birth, birthweight, Apgar score, and first albumin and pH levels were independently associated with mortality.

Background: Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary immunodeficiency syndrome of X-linked recessive inheritance due to FOXP3 gene variants. It is characterised by the development of multiple autoimmune disorders in affected individuals. Case presentation: We present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for 'unexplained' fetal hydrops that may present after the first trimester. Discussion and conclusions: In all similar cases, the pathological process begins during intrauterine life. Furthermore, there are no survivors described. Consequently, this variant should be considered as a severe one, associated with intrauterine life onset and fatal course, i.e., the most severe IPEX phenotype. [ABSTRACT FROM AUTHOR]

Fetal hydrops is the abnormal accumulation of fluid in at least 2 fetal compartments. Its origin can be immune or non-immune. Parvovirus B19 is responsible for a significant part of non-immune hydrops cases. The fetal prognosis is poor with high mortality. We present a clinical case of a pregnant woman with a fetus affected by non-immune hydrops secondary to severe anemia after infection with parvovirus B19, managed by intrauterine transfusion. [ABSTRACT FROM AUTHOR]

Fetal arrhythmias are rare, particularly in multifetal gestation. The most frequently reported fetal arrhythmias are premature atrial contractions and supraventricular tachycardia. Most of these conditions are benign and transient and do not require treatment. However, persistent fetal tachycardia, if left untreated, may lead to fetal hydrops, which is associated with high fetal mortality. Several studies have been performed regarding the success of transplacental anti-arrhythmic therapy in singleton pregnancies, but information on the management of multifetal gestation affected by fetal tachycardia is scarce. A 26-year-old gravida with twin pregnancy was diagnosed at 22 weeks of gestation with supraventricular tachycardia and hydrops in one of the fetuses. Transplacental anti-arrhythmic therapy using digoxin and amiodarone successfully achieved sustained cardioversion and resolution of the hydrops of the affected twin, with no documented maternal or fetal adverse effects. The resolution of fetal hydrops upon cardioversion confirms a cardiogenic cause of the condition. Antenatal fetal surveillance was performed based on the recommendations for monochorionic-diamniotic twin gestation. The pregnancy proceeded to term and was delivered by cesarean section due to malpresentation of the presenting twin. Normal cardiac findings of both twins were documented during postnatal evaluation. [ABSTRACT FROM AUTHOR]

A rare mirror syndrome (Ballantyne syndrome) was seen in a woman who carried a hydropic fetus caused by fetal atrio-ventricular septal defect (AVSD). Diagnosis was made with confidence after ruling out cardiogenic pulmonary edema and preeclampsia. Placental pathology demonstrated multifocal villous edema and accelerated maturation of trophoblasts which may support the earlier reports about potential etiologic roles of the placenta to trigger the disease.

Rhesus-conflict is a pathological condition that manifests itself in the formation of antibodies against fetal erythrocytes in the body of pregnant woman due to the incompatibility of maternal and fetal Rh-factors. The main causes of morbidity and mortality in rhesus conflict are intrauterine hemolytic anemia, fetal hydrops, hemolytic neonatal disease. In addition, an important factor contributing to the increase in perinatal losses in this pathology is the high birth rate of extremely immature children. The reason for this is a preterm labor induction in case of a threat to the life of the fetus, as well as premature births associated with a variety of fetal manipulations. The number of cases of this pathology has declined dramatically throughout the world over the last decades, due to the widespread coverage of women at risk of immunization (anti-D - immunoglobulin). Unfortunately, in Ukraine this situation is not uncommon to this day. The article covers the main modern views on the causes, pathogenesis, course and prevention of immunological conflict associated with incompatibility of the Rh factor in terms of evidence-based medicine. The article describes the experience gained during recent years and attempts to unify the prognostic and preventive approaches in this area. Conclusions: 1. Rhesus-conflict remains a serious problem of domestic medicine with a significant contribution to perinatal loss. 2. Proper and timely anti-Rh immune prophylaxis among all non-immunized women can significantly reduce the incidence of severe disease in fetuses and newborns. 3. There are no remedies for Rhesus conflict. Treatment is subjected to severe hemolytic disease only that occurs before the fetal maturity. Intrauterine hemotransfusion allows prolonging such pregnancy and preventing antenatal fetal death.

Objectives: While percutaneous umbilical cord blood sampling (PUBS) and intrauterine transfusion (IUT) are the standards of care for the management of significant fetal anemia, the neonatal complications resultant from these procedures remain poorly understood. Thus, we aimed to compare neonatal outcomes of the patients undergoing percutaneous umbilical cord blood sampling (PUBS) for intrauterine transfusion (IUT) to gestational age- and sex-matched controls with no indication for and not undergoing PUBS. Methods: This was a retrospective matched cohort study at a single institution from 2000 to 2017. Clinical and demographic data were abstracted from the medical record of patients undergoing PUBS. Neonatal outcomes from pregnancies undergoing PUBS for suspected fetal anemia and from randomly selected gestational age- and sex-matched controls were collected. Neonatal outcomes were compared using matched pairs analysis. Results: There were 64 patients who underwent a total of 178 PUBS with 157 IUT. The most common etiology of fetal anemia was anti-D alloimmunization. On an average, patients undergoing PUBS underwent two procedures (IQR 1,4). There were available neonatal outcomes in 40 patients. The median gestational age at delivery was 34 weeks in both neonates who underwent PUBS and controls. In matched pairs analysis, neonates who underwent PUBS were at higher risk for neonatal complications compared to control neonates (92.5 vs. 55%, OR 4.5, 95% CI 4.5, ∞). Specifically, neonates who underwent PUBS were more likely to experience respiratory complications compared to controls despite a higher uptake of antenatal corticosteroids. Conclusions: We found that neonates who underwent PUBS experience a higher occurrence of complications which does not appear to be secondary to prematurity alone. Despite higher uptake of antenatal corticosteroids in neonates who underwent PUBS as compared to control neonates, neonates who underwent PUBS had a higher risk of respiratory complications. This study can help to inform patients undergoing PUBS/IUT on the anticipated neonatal outcomes and anticipate needed neonatology resources. While PUBS/IUT is the best treatment known to date for management of fetal anemia, our study highlights the need for further research into the subsequent neonatal complications and how to prevent them. [ABSTRACT FROM AUTHOR]