A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.
Infant, Newborn ; Male ; Humans ; Female ; Pregnancy ; Hydrops Fetalis/genetics* ; N-Acetylneuraminic Acid ; Placenta/pathology* ; Ascites

Humans ; Female ; Hydrops Fetalis/genetics* ; Ion Channels/genetics*

OBJECTIVE: To explore the genetic basis of three families with recurrence of non-immune hydrops fetalis (NIHF) but negative result by copy number variation sequencing (CNV-seq). METHODS: Amniotic fluid sample and/or abortive tissues of the fetuses were collected and subjected to CNV-seq analysis. Peripheral blood samples of the parents were also taken for trio whole exome sequencing (trio WES). RESULTS: Fetus 1 was found to harbor heterozygous c.976G>T(p.Glu326*) variant of the SOX18 gene in addition with compound heterozygous variants c.844C>T(p.Arg282Trp) and c.9472+1G>A of the RYR1 gene. The three variants were all inherited from its parents and have been associated with the etiology of NIHF. Based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines, the c.976G>T variant of SOX18 gene and c.9472+1G>A of RYR1 gene were predicted to be pathogenic (PVS1+PM2+PP3+PP4, PVS1+PM2+PP3), and c.844C>T variant of RYR1 gene to be likely pathogenic (PM1+PM2+PP3). Fetus 2 was found to harbor compound heterozygous variants c.6682C>T(p.Gln2228*) and c.4373_4383del(p.Val1458Alafs*63) of the PIEZO1 gene. Both variants were also inherited from its parents and are associated with the etiology of NIHF. Based on ACMG standards and guidelines, both c.6682C>T and c.4373_4383del variants of PIEZO1 gene were predicted to be pathogenic (PVS1+PM2+PP4, PVS1+PM2). Fetus 3 was found to harbor compound heterozygous variants of the TTN gene c.29860G>C(p.Asp9954His) and c.21107A>T(p.Asp7036Val), which were respectively inherited from its parents. Both variants have been strongly associated with the phenotype, though the connection between the etiology of NIHF and variants of the TTN gene remains elusive. Based on ACMG standards and guidelines, the c.29860G>C and c.21107A>T variants of TTN gene were predicted to be likely pathogenic (PM1+PM2+PP3). CONCLUSION Trio WES can improve the diagnosis rate of NIHF with a negative result by CNV-seq. Considering the urgency of prenatal diagnosis, CNV-seq and trio WES should be carried out at the same time for fetuses with NIHF.
DNA Copy Number Variations ; Female ; Genomics ; Heterozygote ; Humans ; Hydrops Fetalis/genetics* ; Ion Channels ; Pregnancy ; SOXF Transcription Factors ; United States ; Whole Exome Sequencing

OBJECTIVE: To study the clinical features, etiology and prognosis of neonates with nonimmune hydrops fetalis (NIHF). METHODS: A retrospective analysis was performed for the clinical data and outcomes of 23 neonates with NIHF. RESULTS: Of the 23 neonates with NIHF, 18 (78%) were preterm infants and 5 (22%) were full-term infants; 12 (52%) had birth asphyxia (including 5 cases of severe asphyxia). As for the causes of NIHF, 8 neonates (35%) had twin-twin transfusion syndrome (TTTS), 3 (13%) had cardiovascular malformation, 3 (13%) had parvovirus B19 infection, 2 (9%) had congenital chylothorax, 1 (4%) had Turner syndrome, 1 (4%) had Coxsackie virus infection, and 5 (22%) had unknown etiology. Of the 23 neonates, 13 achieved clinical cure, 10 died, resulting in a neonatal mortality rate of 43%. Compared with the survival group, the death group had a significantly higher proportion of preterm infants or infants with asphyxia, 5-minute Apgar score<8 or heart failure (100%/100%/60%/60% vs 62%/15%/8%/8%; P<0.05). CONCLUSIONS Birth asphyxia is common in neonates with NIHF. The neonates with a lower gestational age, a more serious asphyxia or heart failure have a higher risk of death in the neonatal period. Being the recipient of TTTS is a major cause of NIHF.
Female ; Gestational Age ; Humans ; Hydrops Fetalis ; Infant ; Infant Mortality ; Infant, Newborn ; Pregnancy ; Prognosis ; Retrospective Studies

OBJECTIVE: To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus. METHODS: DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing. RESULTS: The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c.481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother. CONCLUSION Barth syndrome due to the c.481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.
Barth Syndrome ; genetics ; Cardiomyopathy, Dilated ; genetics ; Echocardiography ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Hydrops Fetalis ; genetics ; Male ; Mutation ; Pregnancy ; Transcription Factors ; genetics

Meconium peritonitis as a cause of non-immune hydrops in neonates is rarely reported. Here we report such a rare occurrence. In our case, a routine antenatal scan at 25 weeks revealed isolated ascites. By 31 weeks of gestation, all features of hydrops were observed in scans. However, antenatal workup for immune and non-immune hydrops was negative. Subsequently, a preterm hydropic female baby was delivered at 32 weeks. She required intubation and ventilator support. An X-ray revealed calcification in the abdomen suggestive of meconium peritonitis. Ultrasound showed gross ascites, a giant cyst compressing the inferior vena cava, and minimal bilateral pleural effusion. Emergency laparotomy revealed meconium pellets and perforation of the ileum. Double-barrel ileostomy was performed, and the edema resolved and activity improved. The baby was discharged after 3 weeks. Ileostomy closure was done at follow-up. The baby is growing well.
Abdomen ; Ascites ; Edema ; Emergencies ; Female ; Follow-Up Studies ; Humans ; Hydrops Fetalis ; Ileostomy ; Ileum ; Infant, Newborn ; Intubation ; Laparotomy ; Meconium ; Peritonitis ; Pleural Effusion ; Pregnancy ; Ultrasonography ; Vena Cava, Inferior ; Ventilators, Mechanical

OBJECTIVE: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography. METHODS: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression. RESULTS: There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all <0.01). Multivariate regression analysis showed that hydrops fetalis (=90.105, <0.05) and additional structural anomalies (=61.854, <0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening. CONCLUSIONS Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.
Female ; Fetus ; Humans ; Hydrops Fetalis ; etiology ; Infant, Newborn ; Lymphangioma, Cystic ; complications ; diagnosis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Ultrasonography, Prenatal

Neuroblastoma is the most common pediatric extracranial solid tumor derived from primitive neural crest cells of the sympathetic nervous system. Although one-fifths of all neuroblastomas occurs within the thorax, thoracic neuroblastomas detected in fetus have been rarely reported. We report a case of fetal thoracic neuroblastoma with massive pleural effusion detected with prenatal ultrasonography. A 34-year-old Korean second-gravida was referred to our hospital at 30 weeks of gestation for evaluation, after the right lung mass found in the fetus. Approximately 3 cm, well-defined, hyperechoic mass was found in the right thorax with right pleural effusion, with the initial suspicion of teratoma. However, as mass continued to grow with deteriorating pleural effusion and fetal hydrops, the mass was considered malignant after 3 weeks. After a cesarean delivery, an approximately 4 cm mass with peripheral calcification and hemothorax was found on neonatal ultrasonography. Neuroblastoma was diagnosed on excision biopsy.
Adult ; Biopsy ; Fetus ; Hemothorax ; Humans ; Hydrops Fetalis ; Lung ; Mediastinum ; Neural Crest ; Neuroblastoma* ; Pleural Effusion ; Pregnancy ; Sympathetic Nervous System ; Teratoma ; Thorax ; Ultrasonography ; Ultrasonography, Prenatal

: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital.: A retrospective review of all cases of fetal hydrops diagnosed in our institution from 2006 to 2013 was carried out.: Out of the 30 cases of fetal hydrops diagnosed antenatally, 17 were cases of Bart's hydrops which were all terminated in-utero. Of the remaining 13 cases, 11 cases consisted of non-immune causes of hydrops. Planned antenatal interventions including in-utero blood transfusions (n = 4) and thoracentesis (n = 5) as well as planned caesarean deliveries (n = 11) were performed in the majority of cases. Postnatal neonatal intensive care with interventions including chest drainage and transfusions were also performed. A majority, 92%, of the cases survived the perinatal period following a variable length of hospital stay ranging from a week to 3 months.: Management of fetal hydrops is complex. Close coordination between the obstetric and neonatal teams was the key to good short-term survival of neonates with antenatally diagnosed hydrops, as it allows timely antenatal intervention and anticipation of potential perinatal complications.
Abortion, Induced ; Blood Transfusion ; Cesarean Section ; Disease Management ; Drainage ; Female ; Fetal Therapies ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis ; blood ; etiology ; therapy ; Infant, Newborn ; Intensive Care Units, Neonatal ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Singapore ; Survival Rate ; Tertiary Care Centers ; Thoracentesis ; alpha-Thalassemia ; blood ; complications

Congenital lymphatic dysplasia is a rare congenital maldevelopment of the lymphatic system, in which dysfunction of the lymphatic system may cause leakage of lymph fluid into the limbs and the pleural, pericardial, or peritoneal cavity. We experienced a case of hydrops fetalis with subcutaneous lymphedema, chylothorax, chylous ascites and pericardial effusion. Lymphangiography revealed a critical defect of lymphatic system. Here, we report the first case of premature infant with congenital lymphatic dysplasia confirmed by lymphangiography, which is the first reported in Korea.
Chylothorax ; Chylous Ascites ; Edema* ; Extremities ; Humans ; Hydrops Fetalis* ; Infant, Newborn ; Infant, Premature ; Korea ; Lymphatic System ; Lymphedema ; Lymphography ; Pericardial Effusion ; Peritoneal Cavity