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Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

Parvovirus B19 (B19V) infection during pregnancy can lead to fetal damage and even fetal loss. In some cases a severe fetal anemia with hydrops fetalis occurs. An intrauterine red blood cell transfusion can reduce the mortality rate. Neurodevelopmental outcome after fetal B19V infection is affected by fetal anemia and presumably direct infection of the CNS. There are only a few studies on long-term neurodevelopmental outcome after B19V infection induced hydrops fetalis. There are hardly any long-term data especially in preterm infants. We report on the long-term outcomes of 2 extremely preterm children after non-immune hydrops fetalis due to intrauterine B19V Infection., (© Georg Thieme Verlag KG Stuttgart · New York.)

α°-thalassemia is a well-known cause of hydrops fetalis in South-East Asia and can be detected in utero. We report a very rare case of thyrotoxic cardiomyopathy associated with hyperplacentosis secondary to α°-thalassemia-associated hydrops fetalis. A 22-year-old primigravida with microcytic anemia presented at 27 weeks' gestation with pre-eclampsia, hyperthyroidism and cardiac failure. Serum β-human chorionic gonadotrophin was markedly elevated and abdominal ultrasound revealed severe hydropic features and enlarged placenta. Serum β-human chorionic gonadotrophin, cardiac function and thyroid function tests normalized after she delivered a macerated stillbirth. Histopathology of the placenta showed hyperplacentosis. Blood DNA analysis revealed that both patient and husband have the α°-thalassemia trait. This case illustrates a very atypical presentation of α°-thalassemia-associated hydrops fetalis and the importance of early prenatal diagnosis of α-thalassemia in women of relevant ethnic origin with microcytic anemia so that appropriate genetic counseling can be provided to reduce maternal morbidity and the incidence of hydrops fetalis., (© 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.)

Hydrops fetalis is an excessive fluid accumulation within the fetal extra vascular compartments and body cavities. Non-immune hydrops fetalis (NIHF), due to causes other than Rh alloimmunization, is the cause in >85% of all affected individuals. Herein we present an update of our earlier systematic literature review [Bellini et al., 2009] using all publications between 2007 and 2013. We excluded most of the initial 31,783 papers by using strict selection criteria, thus resulting in 24 relevant NIHF publications describing 1,338 individuals with NIHF. We subdivided the affected individuals into 14 classification groups based on the cause of NIHF (percentage of the total group): Cardiovascular (20.1%), Hematologic (9.3%), Chromosomal (9.0%), Syndromic (5.5%), Lymphatic Dysplasia (15.0%), Inborn Errors of Metabolism (1.3%), Infections (7.0%), Thoracic (2.3%), Urinary Tract Malformations (0.9%), Extra Thoracic Tumors (0.7%), TTTF-Placental (4.1%), Gastrointestinal (1.3%), Miscellaneous (3.6%), Idiopathic (19.8%). We discuss the results of the review. There may be some shifts in the percentages of etiological categories as compared to the previous review, but the small numbers within each category make drawing firm conclusions hazardous. We highlight the need for multi-center series of NIHF cases collected and classified using the same schemes in diagnostic work-ups to allow for comparisons of larger numbers of cases., (© 2015 Wiley Periodicals, Inc.)

Objective: Nonimmune hydrops fetalis (NIHF) is one of the most difficult problems related to pregnancy. The aim of this study was to evaluate the etiological analysis as well as the fetal and neonatal outcomes of NIHF., Methods: We reviewed the prenatal sonographic data and postnatal medical records of pregnant women diagnosed as NIHF in our hospital between January 2001 and May 2013. All cases were categorized using 12 etiological classification groups. Demographic data, diagnostic laboratory parameters, karyotyping results, sonographic and autopsy findings, postnatal final diagnoses, and perinatal mortality rates were also recorded., Results: This study included 147 cases. The mean gestational age at the time of the initial diagnosis was 23.84±6.30 weeks. Cardiovascular causes were the most common (21.7%), followed by structural abnormalities (17.0%), chromosomal abnormalities (6.8%), and skeletal dysplasias (5.4%). Chromosomal abnormalities were detected in 12.8% of these cases. The most common karyotype abnormality was monosomy X. Postmortem autopsy was performed in 50 (34%) cases, and at least one finding was detected in 40 (80%) of these cases. The overall mortality rate was 78.2%. The gestational week at delivery, birth weight, and Apgar score (1st and 5th min) showed a statistically significant difference between exitus and surviving fetuses (P<0.05)., Conclusion: NIHF can lead to high perinatal morbidity and mortality, yet its etiopathology remains poorly understood. Early diagnosis of NIHF gives parents an opportunity to make an informed choice about the possible complications of a pregnancy.

Introduction: Persistent foetal tachyarrythmias complicated by hydrops fetalis carry a poor prognosis, with foetal death reported in excess of a quarter despite treatment. We present our experience with direct intraperitoneal amiodarone administration in eight hydropic foetuses with resistant supraventricular tachycardia., Methods: Amiodarone was injected slowly into foetal peritoneal cavity under ultrasound guidance. All mothers were loaded with oral amiodarone before the procedure and maintained on it. The procedure was repeated guided by foetal rhythm., Result: All eight cases had severe hydrops with a median foetal heart rate of 255 bpm (range 240-300 bpm), and the median gestational age was 27+1 weeks (range 21-33+3 weeks) at presentation. In six cases, the average time for supraventricular tachycardia to revert to sinus rhythm from the first procedure was 11.5 days. In one case, intravascular injection of amiodarone into the umbilical vein was performed before intraperitoneal injection, which resulted in conversion to sinus rhythm sustained until delivery. In the last case, supraventricular tachycardia and severe hydrops persisted and the baby was delivered 5 days later at 34 weeks' gestation. Hydrops resolved in five foetuses with a mean resolution time of 28.4 days. The mean gestational age at delivery was 34+5 days and seven of eight cases survived beyond the neonatal period with good postnatal outcomes., Conclusion: Intraperitoneal administration of amiodarone is a relatively simple and effective strategy in refractory supraventricular tachycardia complicated by severe hydrops. The intraperitoneal route assures delivery of the drug to the severely hydropic foetus and enables a bolus dose to be delivered for sustained absorption.

We performed a systematic review of the literature to evaluate the incidence and types of lysosomal storage disorders (LSDs) in case series of nonimmune hydrops (NIH). PubMed and Ovid were reviewed for case series evaluating the workup of NIH diagnosed in utero or in the neonatal period in human subjects. Search terms were as follows: nonimmune hydrops, non immune hydrops, metabolic genetic disorders, and lysosomal storage disorders. The time period searched was 1979 through January 2014. Retrospective case series with at least 5 cases of fetal and/or neonatal NIH with its workup mentioned were identified. Idiopathic NIH was defined as NIH without an apparent cause after an initial workup. Exclusion criteria included studies published in languages other than English and review articles. The 3 authors screened all abstracts and manuscripts independently. Metaanalysis of Observational Studies in Epidemiology guidelines were followed. Fifty-four case series with 678 total cases of NIH were identified. The overall incidence of LSD was 5.2% (35 of 678) in all NIH cases that tested for any LSD and 17.4% (35 of 201) in idiopathic NIH cases. The 3 most common LSDs identified in cases of NIH, in order of decreasing incidence, were Mucopolysaccharidosis type VII, Gaucher's disease, and GM1-gangliosidosis. LSDs occur in 5.2% of all NIH cases and in 17.4% of idiopathic NIH cases and so should be screened for in this clinical scenario. Additionally, if a comprehensive LSD workup is completed on idiopathic cases, 29.6% of those would be reclassified as LSD. LSD testing does not only allow diagnosis but also ensures better counseling, appropriate management, and planning for possible early intervention. Moreover, their detection may aid in a prenatal diagnosis in subsequent pregnancies., (Copyright © 2015 Elsevier Inc. All rights reserved.)

As the information obtained from previable fetal and stillbirth autopsies is used not only to explain the loss to the parents, but for future pregnancy planning, general pathologists need to be comfortable in dealing with these autopsies. The importance of an adequate fetal examination has been emphasized in a recent policy on the subject by the American Board of Pathology http://www.abpath.org/FetalAutopsyPoli'cy.pdf. This second review paper covers the approach to hydrops fetalis. The approach to the nonanomalous and anomalous fetus was covered in the first part of this series.

We report a case of bilateral fetal hydrothorax presenting at 20 weeks of pregnancy, spontaneously resolving at 22 weeks and severely relapsing at 28 weeks in a fetus with normal karyotype. The cause was a high-output heart failure caused by vein of Galen malformation., (2015 BMJ Publishing Group Ltd.)

Aim: To develop an ultrasonographic severity scoring of non-immune hydrops in order to predict perinatal outcomes in women with non-immune hydrops., Methods: The study population consisted of pregnant women who were admitted and delivered with the diagnosis of fetal non-immune hydrops and singleton gestation. Cases were divided into "perinatal survivor" and "perinatal non-survivor" groups. Perinatal non-survivor cases were defined as those with stillbirth or neonatal death ≤28 completed days after birth. The presence of an abnormal fluid collection in each body compartment, such as subcutaneous edema, pleural effusion, pericardial effusion, or ascites was assigned a score of 1 point per each body compartment, and the absence of abnormal fluid collection was scored as 0 point. The total number of abnormal fluid collections was converted to a numeric score, which was called the ultrasonographic severity scoring of non-immune hydrops (USNIH)., Results: Perinatal death occurred in 46.5% (20/43) of the cases of non-immune hydrops. USNIH in patients of the non-survivor group was significantly higher than that in those of the survivor group [non-survivor group 3 (2-4) vs. survivor 2 (2-3); median (range); P<0.05]. Perinatal mortality rates were higher in patients with USNIH ≥3 points than in those with USNIH of 2 points (67% vs. 13%, P<0.005). This difference remained significant after adjustment for confounding variables. When confining analysis to those with idiopathic non-immune hydrops, women in the perinatal non-survivor group had significantly higher USNIH score than those in the perinatal survivor group, and this difference remained significant after adjustment., Conclusions: Our USNIH system may be a reliable predictive marker for perinatal outcomes in cases of non-immune hydrops, especially in idiopathic hydrops during the antenatal period.

Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. Here, we describe one case with Hb H/Hb CS disease that presented with fetal anemia and fetal hydrops, known as Hb H (β4) hydrops fetalis. This is the first report of fetal hydrops caused by association of the - -(SEA) deletion and the α(CS)α mutation. Our study highlights the significance of watchful observation using a serial ultrasound method and care of pregnant women who have fetuses found to carry Hb H/Hb CS disease during pregnancy, to guard against the occurrence of fetal hydrops.

Purpose: Fetal hydrops arises from multiple disease processes and can portend a grim prognosis. We reviewed our experience with hydropic fetuses to understand relevant antenatal anatomic and physiologic predictors of survival., Methods: We reviewed fetal ultrasounds and echocardiograms of hydropic fetuses evaluated from 1996 to 2013., Results: Overall neonatal survival in 167 fetuses was 44% (range, 0-75%) and was influenced by the underlying disease process. The anatomic distribution of fluid varied and was not significantly different between survivors and nonsurvivors. Univariate analysis indicated that resolution of hydrops and delivery at a later gestational age were predictive of survival (OR: 5.7 (95% CI: 2.5-13.2) and OR: 1.3 (95% CI: 1.1-1.4), respectively). Fetal intervention also improved survival in some diseases. Echocardiograms were reviewed to group fetuses with similar cardiac physiology and defined categories with high or low/normal cardiothoracic ratio (CTR). Among patients with a high CTR, the cardiovascular profile score was predictive of survival (p=0.009)., Conclusion: Survival in hydrops depends on the underlying disease, available fetal therapies to resolve hydrops, and the gestational age of delivery and not on the specific anatomic manifestations of hydrops. In hydropic fetuses with high CTRs, the cardiovascular profile score may be a useful prognostic indicator., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Harlequin color change is a distinctive cutaneous phenomenon presenting as a well-demarcated color change, with half of the body displaying erythema and the other half pallor. Only a few cases have been reported, possibly because of under-recognition. Recognition of this benign, self-limited condition may enable physicians to avoid unnecessary interventions. Herein we describe a neonate with nonimmune hydrops fetalis due to neonatal hemochromatosis who developed Harlequin color change after abdominal paracentesis., (© 2014 Wiley Periodicals, Inc.)

Purpose: To describe a transabdominal, transuterine Seldinger-based percutaneous approach to create a shunt for treatment of fetal thoracic abnormalities., Materials and Methods: Five fetuses presented with nonimmune fetal hydrops secondary to fetal thoracic abnormalities causing severe mass effect. Under direct ultrasound guidance, an 18-gauge needle was used to access the malformation. Through a peel-away sheath, a customized pediatric transplant 4.5-F double J ureteral stent was advanced; the leading loop was placed in the fetal thorax, and the trailing end was left outside the fetal thorax within the amniotic cavity., Results: Seven thoracoamniotic shunts were successfully placed in five fetuses; one shunt was immediately replaced because of displacement during the procedure, and another shunt was not functioning at follow-up requiring insertion of a second shunt. All fetuses had successful decompression of the thoracic malformation, allowing lung reexpansion and resolution of hydrops. Three of five mothers had meaningful (> 7 d) prolongation of their pregnancies. All pregnancies were maintained to > 30 weeks (range, 30 weeks 1 d-37 weeks 2 d). There were no maternal complications., Conclusions: A Seldinger-based percutaneous approach to draining fetal thoracic abnormalities is feasible and can allow for prolongation of pregnancy and antenatal lung development and ultimately result in fetal survival., (Copyright © 2014 SIR. Published by Elsevier Inc. All rights reserved.)

Purpose: The purpose of this study was to review the unique imaging characteristics, prenatal course, and outcomes for fetuses with mainstem bronchial atresia (MBA)., Methods: The records of all patients referred for a fetal lung malformation from 2001 to 2012 and the medical literature were reviewed to identify cases of MBA., Results: Of 129 fetuses evaluated, 3 were diagnosed prenatally with right-sided MBA. The first had a CCAM-volume ratio (CVR) of 9, hydrops, mirror syndrome, and preterm delivery of a nonviable fetus. The second (CVR 2.6) had ascites, preterm delivery at 34-weeks, and neonatal demise. The third fetus (CVR 5.7) presented with hydrops at 21-weeks, prompting fetal pneumonectomy. Postoperatively, hydrops resolved, and the contralateral lung grew dramatically, but preterm delivery occurred 3 weeks later. Ventilation could not be sustained, and the infant died. Four similar cases of MBA were in the literature, all right-sided. Two fetuses with hydrops delivered at 25-weeks and died immediately. One pregnancy was terminated. One fetus underwent pneumonectomy at 24-weeks but died intraoperatively., Conclusion: MBA is a rare and lethal lesion that must be distinguished from other right-sided lung masses. Fetal pneumonectomy can be performed with resolution of hydrops and compensatory contralateral lung growth, but remains limited by complications of preterm birth., (Copyright © 2014 Elsevier Inc. All rights reserved.)

A case of fetal neuroblastoma of the right adrenal gland, with rapid development of hydrops fetalis due to catecholamine-induced cardiomyopathy, is reported. A fetus with a right suprarenal mass detected during ultrasonography at 32 weeks gestation progressively developed into hydrops fetalis by 35.2 weeks gestation. An emergent cesarean section was performed. At birth, the female neonate was hypertensive, with markedly elevated catecholamine levels; echocardiography showed poor contractility. Morphine, human atrial natriuretic peptide, milrinone, nitroprusside and dobutamine were initiated and her blood pressure was maintained within the normal range and her cardiac contractility improved 2 weeks after birth. Neuroblastoma cells were detected in the placenta, resulting in the right adrenal mass being diagnosed as a neuroblastoma. She was well, and the mass diminished in size within 4 months, without surgery. A fetus with suspected neuroblastoma, indicated by a suprarenal mass, should be managed with appropriate consideration of hydrops.

A preterm male infant (35 weeks), appropriate for gestational age with birth weight of 2.20 kg was born to a 28-year G2 P0 mother. The mother's blood group was A positive and the father's was B positive. Her first pregnancy was an intrauterine fetal death due to immune hydrops. The mother's blood was positive for indirect Coomb's test with 1:32 dilution and anti-M antibodies. This pregnancy was induced at 35 weeks of gestation. Investigations from the cord blood revealed A positive blood group, positive direct Coomb's test, haematocrit of 41.4%, cord reticulocyte count of 5.3% and total serum bilirubin (TSB) of 2.7 mg/dL. Phototherapy was started at 27 h of life for visible jaundice. In view of progressive pallor and a sudden rise of bilirubin, the infant was subjected to exchange transfusion on day 5 of life. The transfusion was given with O negative and anti-M antibodies negative donor blood. Total serum bilirubin (TSB) prior to exchange transfusion was 28 mg/dL and packed cell volume (PCV) was 21%. Phototherapy was continued for a total duration of 8 days.

Aim: We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period., Methods: Medical records of newborn infants with HF during 2002-2011 were reviewed retrospectively. Demographic data, prenatal interventions, clinical and laboratory findings, outcomes, and the results of postmortem examinations were analyzed., Results: During the study period, 62 newborn infants with HF were identified from 16,200 live-born deliveries and the incidence of HF was 3.8/1000 live births in our hospital. Twenty-eight infants (45.2%) had immune HF, whereas 34 (54.8%) had nonimmune HF. An etiologic factor could be identified in 24 (70.5%) infants with nonimmune HF. Lymphatic dysplasias comprised the majority (23.5%) of the infants with nonimmune HF. Mortality rate was 50%. The presence of two or more serous cavity effusions and gestational age were independently associated with the risk of mortality., Conclusion: Despite the improvements in neonatal care, mortality rate in infants with HF is still high. Gestational age and the extent of serous cavity determine the risk of mortality. Timely and advanced prenatal or postnatal new therapeutic strategies may alter this fatal outcome in appropriate patients., (Copyright © 2013. Published by Elsevier B.V.)

Intrapericardial teratomas are extremely rare and most often benign tumours. In this paper, we have described a case of intrapericardial teratoma diagnosed prenatally and successfully operated. The presented case is noteworthy as an example of potentially catastrophic cardiorespiratory distress caused by the space-occupying nature of the tumour. A multi-disciplinary approach is mandatory because the tumour most often arises from the ascending aorta and in some cases may require the use of cardiopulmonary bypass.

Non-immune hydrops fetalis is the most severe presenting feature of lysosomal storage disorders. However, it is difficult to identify the underlying condition because the different lysosomal storage diseases share many clinical features. A neonate with hydrops fetalis is described here. A lysosomal storage disorder was first suspected when the placental biopsy showed the presence of macrophages containing numerous cytoplasmic vacuoles. Subsequent comprehensive diagnostic processes and biochemical and molecular genetics characterization revealed a rare genetic cause, namely sialidosis type 2. Liquid chromatography-mass spectrometry revealed increased amounts of bound sialic acid in the urine. Pathogenic NEU1 mutations were detected. This is the first case with sialidosis type 2 ever known in the Korean population, exhibiting its most severe manifestation., (Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Cardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear, and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects of dysregulated BRAF activity. Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome.

ABO incompatibility and glucose-6-phosphate dehydrogenase deficiency G6PD are common haematological problems affecting the newborn. The resulting haemolytic disease of foetus and newborn (HDFN) caused by either of these pathologies generally follows a benign course. It is typically characterized by mild jaundice without significant anaemia. ABO incompatibility alone as a cause of foetal hydrops is extremely rare. We report a case of a newborn baby girl with an anti-B isoimmunisation and G6PD deficiency manifesting with hydrops foetalis, anaemia and hyperbilirubinaemia, born to a mother with blood group O.

Background: Mirror syndrome is a rare complication of twin-twin transfusion syndrome (TTTS). Its clinical picture includes massive edema, oliguria, and hemodilution in the context of fetal hydrops. The occurrence of mirror syndrome after fetoscopic laser therapy for TTTS has been well documented, but resolution of mirror syndrome before delivery has not been reported in the literature., Case: A 33-year-old woman was referred to our institution at 23(6)/7 weeks' gestation for TTTS, which had been treated with amnioreduction twice: at 21 and 22 gestational weeks, respectively. Mirror syndrome was diagnosed after fetoscopic laser therapy for TTTS at 24 weeks' gestation due to maternal manifestations of pulmonary edema, skin edema, anemia, low blood protein concentration and proteinuria accompanied by donor hydrops. The maternal respiratory symptoms then gradually abated in <2 weeks along with improved fetal condition, resulting in a delivery with favorable outcomes at 36 weeks' gestation., Conclusion: Manifestation of mirror syndrome after fetoscopic laser therapy in twin-twin transfusion due to donor hydrops doesn't necessarily predict a poor perinatal outcome.

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features., (© 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.)

A miniaturized, self-contained pacemaker that could be implanted with a minimally invasive technique would dramatically improve the survival rate for fetuses that develop hydrops fetalis as a result of congenital heart block. We are currently validating a device that we developed to address this bradyarrhythmia. Preclinical studies in a fetal sheep model are underway to demonstrate that the device can be implanted via a minimally invasive approach, can mechanically withstand the harsh bodily environment, can induce effective contractions of the heart muscle with an adequate safety factor, and can successfully operate for the required device lifetime of three months using the previously-developed closed loop transcutaneous recharging system.

Hemolytic disease of the fetus and newborn (HDFN) attributed to M/N-incompatibility varies from asymptomatic to lethally hydropic. Case reports are rare, and the clinical significance of anti-M is not completely understood. A challenging case of HDFN due to anti-M prompted an investigation of the Japanese literature, in order to characterize the clinical spectrum of M/N-incompatibility pregnancies in Japan and report results to English-language readers. Japanese reports of HDFN attributed to M/N incompatibility were compiled. Abstracted data include maternal antibody titers at delivery, fetal direct antiglobulin test, hemoglobin, total bilirubin, reticulocyte count at birth, and therapeutic interventions. We investigated characteristics of HDFN due to M/N-incompatible pregnancies in Japan after encountering a case of severe HDFN along with late-onset anemia in an infant born to a woman carrying IgG anti-M with a titer of 1. In total, thirty-three babies with HDFN due to anti-M and one due to anti-N have been reported in Japan since 1975. The median maternal antibody titer was 64 at delivery and was 16 or less in 10 of 34 women (29%). Five of 34 babies (15%) were stillborn or died as neonates. Twenty-one of 29 survivors (72%) had severe hemolytic anemia and/or hydrops fetalis. The reticulocyte count of neonates with anemia stayed below the reference interval. Sixteen (55%) developed late-onset anemia and 14 (48%) were transfused with M-negative RBCs. Significant positive correlation (P < .05) between the hemoglobin value and the reticulocyte count within 4 days of birth was obtained in 16 babies with anti-M HDFN. In the Japanese population, 21 of 34 cases of M/N-incompatible HDFN (72%) have manifested as severe hemolytic anemia and/or hydrops fetalis. Low reticulocyte count in neonates with late-onset anemia is consistent with suppressed erythropoiesis due to anti-M., (© 2013.)

Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease usually diagnosed postmortem. The clinical presentation is not typical, but usually implies refractory hypertension and cardiorespiratory failure. We present a case of a newborn with IIAC who had fetal hydrops and refractory hypertension which normalized soon after initialization of peritoneal dialysis. With this case report, we wanted to highlight that peritoneal dialysis may be beneficial an effective therapeutic option for patients with IIAC and severe refractory hypertension. Until now, peritoneal dialysis was never performed in the treatment of patients with IIAC.

Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum ranges from a prenatal severe presentation to an adult-onset chronic neurodegenerative disease. Data about prenatal presentation of NPC are limited. A female newborn was born at 34(2) weeks' gestation with a birth weight of 3070 g, and transferred to the Neonatal Intensive Care Unit because of nonimmune hydrops fetalis (NIHF) and respiratory distress. On admission, a physical examination revealed skin edema, mild respiratory distress, and abdominal distention due to massive ascites. Hepatosplenomegaly and cholestasis increased progressively and bleeding diathesis occurred. Results of an abdominal ultrasonography showed hepatosplenomegaly and segmental multicystic dysplastic left kidney. Foamy cells with a lysosomal phospholipid storage pattern compatible with NPC were found in the bone marrow smear. Cultured fibroblasts showed a strongly elevated filipin staining (classical NPC cellular phenotype), establishing the diagnosis of NPC. The infant died on the 52(nd) day of life because of respiratory distress due to lung involvement of NPC, massive ascites, and progressive liver failure. Results of an autopsy showed multiorgan storage disease involving the liver, spleen, lymph nodes, thymus, lungs, and brain. Here, we present a preterm infant with NIHF as a sign of severe prenatal-onset NPC and review the literature., (Copyright © 2013. Published by Elsevier B.V.)

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Liver tumors seldom occur in the perinatal period. Hepatic hemangiomas are the most common tumors of the liver diagnosed during fetal and neonatal life. The diagnosis can be suspected antenatally by ultrasound and MR scan. The differential diagnosis is often challenging. While small hepatic hemangiomas are usually asymptomatic, large tumors can lead to complications such as high-output congestive heart failure, consumptive thrombocytopenic coagulopathy and hemorrhage after tumor rupture. We describe a case of hepatic hemangioma presenting as a solid abdominal mass with several cystic areas on an obstetric ultrasound and report on the contribition fetal MR imaging to the diagnosis.

Objective: To review the last 15 year experience of choriocarcinoma following a term gestation at the New England Trophoblastic Disease Center (NETDC) and compare these results to earlier data to determine any changes in the clinical presentation and outcome of this disease., Methods: Women with postterm choriocarcinoma from 1996 through 2011 followed by the NETDC were identified by diagnosis codes. Twenty charts were identified and reviewed. These data were then compared to published results from the NETDC of 44 women from 1964 to 1996., Results: Time from antecedent pregnancy to diagnosis of choriocarcinoma was significantly longer in the current series, 46.1 vs. 19.7 weeks (p = 0.03). Despite this change, patient outcomes remained comparable, with similar overall mortality rates (13% vs. 10%, p = NS). However, patient presentation was notably different. In the early series, five (11%) infants suffered hydrops or stillbirth, while in the recent series there were no adverse infant outcomes (p = 0.08). Six women in the current series presented in the absence of symptoms suspicious for choriocarcinoma (either by an incidental positive pregnancy test without other symptoms or by placental pathology), compared to one woman in the prior series (30% vs. 2%, p = 0.001)., Conclusions: In recent years postterm choriocarcinoma is being diagnosed or referred later after the antecedent pregnancy at our regional referral center. Recent patients more commonly have no other symptoms than a question of pregnancy and are less likely diagnosed due to the presence of fetal hydrops or stillbirth. Despite later diagnoses, survival with postterm choriocarcinoma continues to be high., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Objective: Cardiac dysfunction is common in the recipient fetus of twin-twin transfusion syndrome (TTTS). In this study, we aimed to document the severity of fetal cardiac dysfunction in Stage IV TTTS (fetal hydrops) and assess evolution of cardiac function longitudinally after fetoscopic laser surgery., Methods: We reviewed obstetric ultrasound examination data, pre- and postoperative echocardiograms and neonatal outcomes for 22 cases of Stage IV TTTS undergoing fetoscopic laser ablation of placental anastomoses between 1998 and 2011. Myocardial performance index, atrioventricular valve flow patterns, ventricular shortening fraction, ventricular hypertrophy, outflow tract obstruction and venous Doppler waveforms were assessed., Results: Nineteen fetuses (86.4%) had ascites, eight (36.4%) had pleural effusions, nine (40.9%) had a pericardial effusion and 12 (54.5%) had subcutaneous edema at presentation. Preoperatively, cardiac function was grossly abnormal in all. Eight fetuses (36.4%) had functional pulmonary atresia and one (4.5%) had functional aortic atresia. Seventy-seven percent of recipient fetuses survived until birth. Postoperative echocardiographic follow-up (mean, 26 days) showed that indices of fetal cardiac function improved considerably, but never completely normalized. Six of the eight fetuses with functional pulmonary atresia (75.0%), as well as the fetus with functional aortic atresia, survived to birth. In all cases, the functional atresia resolved within 48 h of laser ablation therapy and none had structural valve anomalies at birth. All fetal effusions resolved after the laser., Conclusions: Fetoscopic laser ablation of placental anastomoses reverses cardiac dysfunction and valvulopathy, even in the most severe cases of TTTS. However, recovery takes longer than in early stage disease., (Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.)

Non-immune hydrops fetalis (NIHF) is a challenging entity as it represents the end stage of several different disorders. Renal and genitourinary causes of NIHF are rare and include congenital renal malformations, tumors and ureter-urethra disorders. Herein, two NIHF cases with different renal causes were presented. The first case that had antenatal NIHF was diagnosed neonatal Bartter syndrome. The second case of NIHF with antenatal large cyst in the surrenal gland area required surgery and ectopic renal cyst was diagnosed. To our best of knowledge, these are the first reports of NIHF associated with neonatal Bartter syndrome and ectopic renal cyst in neonates. Although it may be coincidental, these cases suggest that both neonatal Bartter syndrome and unilateral ectopic renal cyst may cause NIHF development in neonates by several different mechanisms. Therefore, these two rare entities should be suspected in cases of NIHF with similar findings.

Purpose: Some fetuses with sacrococcygeal teratoma (SCT) develop hydrops, but there is no consensus on an appropriate prognostic marker for poor prognosis. The purpose of this study is to establish predictors of poor prognosis in fetuses with SCT., Methods: A retrospective review of patients with prenatally diagnosed SCT from 1986 to 2011 was performed. Patients with outcome data and ultrasound exams before 32 weeks gestational age (GA) were included (n=37). Tumor volume-to-fetal weight ratio (TFR) and tumor morphology were assessed as sonographic predictors of poor prognosis., Results: Twelve patients (32%) had good prognosis, and twenty-five patients (68%) had poor prognosis. All patients with poor prognosis had a morphology score ≥ 3, which is a significant predictor of poor prognosis (p <0.0001). TFR was assessed, and a receiver operating characteristic (ROC) analysis identified a cutoff value of 0.12 before 24 weeks GA and 0.11 before 32 weeks GA as predictors for poor prognosis. TFR is a significant predictor of poor prognosis (p<0.0001)., Conclusions: Patients with cystic SCT all had good prognosis. TFR >0.12 was validated as a sonographic predictor of poor prognosis. TFR and tumor morphology can be used to counsel expectant families with prenatally diagnosed SCT regarding prognosis., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Objectives: To evaluate and compare perinatal outcome after intrauterine transfusions (IUT) performed before and after 20 weeks of gestation. To analyse contributing factors., Design: Retrospective analysis., Setting: The Dutch referral centre for fetal therapy., Population: IUTs for fetal alloimmune anaemia., Methods: Fetuses were divided into two groups: fetuses requiring the first IUT before 20 weeks of gestation (Group 1) and those in which the IUTs started after 20 weeks (Group 2). The cause of perinatal loss was classified as procedure-related (PR) or not procedure-related (NPR). The cohort was divided into two periods to describe the change of perinatal loss over time., Main Outcome Measures: Perinatal loss of fetuses requiring the first IUT before 20 weeks of gestation, compared with perinatal loss later in gestation., Results: A total of 1422 IUTs were performed in 491 fetuses. Perinatal loss rate in Group 1 was higher (7/29 24% versus 35/462 8%, P = 0.002). Especially NPR was higher for IUTs performed before 20 weeks (4/37 11% versus 19/1385 1%, P < 0.001). Kell alloimmunisation was overrepresented in Group 1 (7/29 24% versus 52/462 11%, P = 0.04). In a multivariate regression analysis, only hydrops was independently associated with perinatal loss (P = 0.001). In recent years, a decline in total perinatal loss was found (36/224 16% versus 6/267 2%, P < 0.001), but perinatal loss in Group 1 did not decline (4/224 1.8% versus 3/267 1.1%, P = 0.5)., Conclusions: Perinatal loss after IUT performed before 20 weeks of gestation is increased compared with loss after IUT performed later in gestation. In addition, we confirmed earlier observations that hydrops is a major contributor to adverse outcome. Early and timely detection and treatment may prevent hydrops and improve outcome., (© 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.)

We present a case of a female neonate who had a nonimmune hydrops fetalis and severe hemolytic anemia due to a rare combination of glucose-6-phosphate dehydrogenase (G6PD) deficiency and congenital dyserythropoietic anemia. We conclude that in severe cases with persistent anemia one should search after delivery for a second reason other than G6PD deficiency alone.

α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, recurrent transfusions, and growth delay. Hemosiderosis develops secondary to increased iron absorption, as well as transfusion burden. Hemoglobin Bart's hydrops fetalis is usually a fatal in utero disease caused by the absence of α genes. Population screening to identify at-risk couples is essential. Affected pregnancies result in severe fetal and maternal complications. Doppler ultrasonography with intrauterine transfusion therapy may improve the fetal prognosis but creates ethical challenges for the family and health providers.

Dural sinus malformation (DSM) is a rare congenital malformation characterized by a dilated dural sinus pouch. We present a case of prenatally diagnosed DSM and propose a parameter to predict poor fetal outcome. Detailed ultrasonography at 26 weeks of our patient showed an intracranial cyst in the left posterior fossa. Color Doppler study indicated an arteriovenous shunt within the cyst with increased blood flow velocity. Based on these findings, fetal DSM with arteriovenous shunt was diagnosed. Because of fetal hydrops with high-output cardiac failure and maternal pregnancy-induced hypertension, labor was induced at 32 weeks and resulted in stillbirth. In conclusion, based on the present case, we can deduce that color Doppler study is useful for prenatal diagnosis of DSM with arteriovenous shunt and that a high-flow velocity to the cystic lesion is a possible predictor of hydropic change in such fetuses., (© 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.)

ABSTRACT Aorto-left ventricular tunnel (ALVT) is a rare congenital heart anomaly of unclear pathogenesis causing left ventricular volume overload. Most descriptions are from surgical corrections in the neonatal and infantile period, and little is known about ALVT in utero. Here we describe a case of ALVT ending in intrauterine demise with fetal hydrops at 30 weeks gestational age. Prior echocardiography showed features suggesting the presence of an ALVT, and an ALVT circumventing the left coronary leaflet of the aortic valve was confirmed at autopsy. Marked cardiomegaly and dilatation were present along with diffuse myocardial infarction. Other potential causes of fetal hydrops were not found, and genetic analysis, including analysis for RAS pathway mutations, did not reveal any detectable abnormalities. The presentation as intrauterine demise suggests that the architecture of this ALVT compromises cardiac function to a greater degree than the more typical defects discovered in the neonatal period.