Many of the anesthetic considerations for fetal procedures and surgery are identical to those for nonobstetric surgery during pregnancy, including concern for maternal safety, avoidance of both teratogenic drugs and fetal asphyxia, and the prevention of preterm labor and delivery. Anesthesia is required for the mother and quite often the fetus to perform many fetal procedures. Fetal procedures and surgery can be divided into subgroups according to their anesthetic requirements. For example: procedures that only require a needle insertion into the uterus but not into the fetus, such as intrauterine infusions; laser surgical photocoagulation of the communicating placental circulation for twin-twin transfusion syndrome (TTTS) and radio-frequency umbilical cord ablation for managing twin reversed arterial perfusion (TRAP), which are not really fetal procedures, rather they are placental or cord procedures; surgical procedures performed directly on the fetus; and the EX-utero Intrapartum Treatment (EXIT) procedure. Anesthetic considerations also depend on other factors, such as the location of the placenta. Unlike maternal surgery, for fetal procedures, the fetus is not an innocent bystander for whom the least anesthetic interference is used. Instead, the fetus can be the primary patient and may benefit from anesthesia, with close monitoring of the anesthetic effects to ensure well-being. Fetal asphyxia, hypoxia, or distress can be most effectively recognized, predicted, and avoided by fetal monitoring. Monitoring is also crucial for assessing the fetal response to corrective maneuvers.
*Anesthesia ; Animal ; Female ; Fetal Diseases/*diagnosis/*therapy ; Fetus/*surgery ; Human ; Pregnancy ; *Prenatal Diagnosis

Although congenital renal tumors are rare, congenital mesoblastic nephroma (CMN) is the most common renal tumor in early infancy. It is non-metastatic, well differentiated, amenable to surgical removal, and carries a good prognosis. Polyhydramnios has been detected in most of the published cases of CMN. However, we experienced a rare case of fetal CMN associated with oligohydramnios. A 28-yr old woman at 34 weeks of gestation was referred to our hospital for oligohydramnios and a fetal abdominal mass. An ultrasonography revealed a huge, well-encapsulated mass arising from the right kidney. An emergency cesarean section was performed due to fetal distress. After birth, despite intensive neonatal care, the baby died because of renal failure, disseminated intravascular coagulopathy, pulmonary edema, together with other problems.
Pregnancy ; Oligohydramnios/*diagnosis/therapy ; Nephroma, Mesoblastic/*diagnosis/therapy ; Kidney Neoplasms/*diagnosis/therapy ; Infant, Newborn ; Humans ; Fetal Diseases/etiology/prevention & control ; Female ; Fatal Outcome ; Cesarean Section ; Adult

Objective: To analysis the clinical characteristics of 400 fetuses with heart defects and the impactors of pregnancy decision making, and explore the influence of a multi-disciplinary team (MDT) cooperation approach on it. Methods: Clinical data of 400 fetuses with abnormal cardiac structure diagnosed at Peking University First Hospital from January 2012 to June 2021 were collected, which were divided into 4 groups according to the characteristics of fetal heart defects and the presence of extracardiac abnormalities or not: single cardiac defects without extracardiac abnormalities (122 cases), multiple cardiac defects without extracardiac abnormalities (100 cases), single cardiac defects with extracardiac abnormalities (115 cases), and multiple cardiac defects with extracardiac abnormalities (63 cases). The types of fetal cardiac structural abnormalities and genetic test results, and the detection rate of pathogenic genetic abnormalities, MDT consultation and management situation, and pregnancy decision of fetuses in each group were retrospectively analyzed. A logistics regression was used to analyze the influencing factors of fetal heart defects pregnancy decision. Results: (1) Among the 400 fetal heart defects, the four most common major types were ventricular septal defect 96 (24.0%, 96/400), tetralogy of Fallot 52 (13.0%, 52/400), coarctation of the aorta 34 (8.5%, 34/400), and atrioventricular septal defect 26 (6.5%, 26/400). (2) Among the 204 fetuses undergoing genetic examination, 44 (21.6%, 44/204) pathogenic genetic abnormalities were detected. (3) Detection rate of pathogenic genetic abnormalities (39.3%, 24/61) and pregnancy termination rate (86.1%, 99/115) in the single cardiac defects with extracardiac abnormalities group were significantly higher than those in the single cardiac defects without extracardiac abnormalities group [15.1% (8/53), 44.3% (54/122), respectively] and the multiple cardiac defects without extracardiac abnormalities group [6.1% (3/49), 70.0% (70/100), respectively, both P<0.05], and the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group and the multiple cardiac defects with extracardiac abnormalities group (82.5%,52/63) were significantly higher than that of the single cardiac abnormalities without extracardiac abnormalities group (both P<0.05). (4) After adjusting for age, gravity, parity and performed prenatal diagnosis, maternal age, the diagnosis of gestational age, prognosis grades, co-existence of extracardiac abnormalities, presence of pathogenic genetic abnormalities, and receiving MDT consultation and management were still independent influencing factors of termination of pregnancy of fetuses with cardiac defects (all P<0.05). A total of 29 (7.2%, 29/400) fetal cardiac defects received MDT consultation and management, and compared with those without MDT management, the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group [74.2%(66/89) vs 4/11] and the multiple cardiac defects with extracardiac abnormalities group [87.9%(51/58) vs 1/5] were lower, the differences were statistically significant respectively (all P<0.05). Conclusions: Maternal age, diagnosed gestational age, severity of cardiac defects, extracardiac abnormalities, pathogenic genetic abnormalities and MDT counseling and management are the influencing factors of fetal heart defects pregnancy decision. MDT cooperation approach influences pregnancy decision-making and should be recommended for the management of fetal cardiac defect to reduce unnecessary termination of pregnancy and improve pregnancy outcomes.
Pregnancy ; Female ; Humans ; Retrospective Studies ; Fetal Diseases/diagnosis* ; Heart Defects, Congenital/therapy* ; Fetus ; Decision Making ; Ultrasonography, Prenatal/methods*

Isolated pleural effusion, so called primary pleural effusion denotes a pleural effusion without documented etiology such as a cardiac, inflammatory, iatrogenic problem or fetal hydrops. Chromosomal anomaly such as Down syndrome may be associated with isolated pleural effusion. The content of the isolated pleural effusion is mostly chylous, and isolated non-chylous pleural effusion in neonate is rare. We experienced 2 cases of isolated non-chylous pleural effusion. They had neither cardiac problem nor other sign of hydrops fetalis. Imaging diagnosis was done by plain chest radiography and subsequent ultrasonogram. One of them was diagnosed to Down syndrome by karyotyping. They were fared well after diagnostic and therapeutic thoracentesis. We describe 2 cases of non-chylous pleural effusion and review a few English-language case reports of this entity.
Chyloperitoneum/pathology ; Chylothorax/pathology ; Down Syndrome/diagnosis/genetics ; Female ; Fetal Diseases/diagnosis/therapy ; Gestational Age ; Human ; Hydrothorax ; Infant, Newborn ; Karyotyping ; Male ; *Pleural Effusion ; Pregnancy ; Ultrasonography ; Ultrasonography, Prenatal

Epidermal Growth Factor ; physiology ; Fetal Diseases ; therapy ; Hernia, Diaphragmatic ; complications ; therapy ; Hernias, Diaphragmatic, Congenital ; Humans ; Lung ; abnormalities ; pathology ; Prenatal Diagnosis ; Pulmonary Surfactants ; pharmacology ; Tumor Necrosis Factor-alpha ; physiology

Bacterial Infections ; epidemiology ; etiology ; Cerebral Hemorrhage ; diagnosis ; etiology ; therapy ; Craniocerebral Trauma ; diagnosis ; etiology ; therapy ; Female ; Fetal Membranes, Premature Rupture ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; diagnosis ; etiology ; therapy ; Pregnancy ; Risk Factors ; Tomography, X-Ray Computed

Antiviral Agents ; adverse effects ; therapeutic use ; Cytomegalovirus ; drug effects ; Cytomegalovirus Infections ; diagnosis ; drug therapy ; transmission ; Erythema Infectiosum ; diagnosis ; drug therapy ; transmission ; Female ; Fetal Diseases ; diagnosis ; drug therapy ; Ganciclovir ; adverse effects ; therapeutic use ; Humans ; Infectious Disease Transmission, Vertical ; prevention & control ; Parvoviridae Infections ; diagnosis ; drug therapy ; transmission ; Parvovirus B19, Human ; drug effects ; Pregnancy ; Pregnancy Complications, Infectious ; drug therapy ; virology ; Prenatal Diagnosis ; methods ; Uterus

Jr(a) is a high-frequency antigen found in all ethnic groups. However, the clinical significance of the anti-Jr(a) antibody has remained controversial. Most studies have reported mild hemolytic disease of the newborn and fetus (HDNF) in Jr(a)-positive patients. Recently, fatal cases of HDNF have also been reported. We report the first case of HDNF caused by anti-Jr(a) alloimmunization in twins in Korea. A 33-yr-old nulliparous woman with no history of transfusion or amniocentesis was admitted at the 32nd week of gestation because of vaginal bleeding caused by placenta previa. Anti-Jr(a) antibodies were detected in a routine laboratory examination. An emergency cesarean section was performed at the 34th week of gestation, and 2 premature infant twins were delivered. Laboratory examination showed positive direct antiglobulin test and Jr(a+) phenotype in the red blood cells and the presence of anti-Jr(a) antibodies in the serum in both neonates. The infants underwent phototherapy for neonatal jaundice; this was followed by conservative management. They showed no further complications and were discharged on the 19th postpartum day. Preparative management to ensure the availability of Jr(a-) blood, via autologous donation, and close fetal monitoring must be performed even in cases of first pregnancy in Jr(a-) women.
Adult ; Blood Group Antigens/immunology ; *Blood Group Incompatibility ; Diseases in Twins/diagnosis/*immunology ; Erythroblastosis, Fetal/*diagnosis/immunology ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Isoantigens/immunology ; Jaundice, Neonatal/complications/immunology/therapy ; Male ; Phenotype ; Phototherapy ; Pregnancy ; Pregnancy Complications, Hematologic/diagnosis/*immunology ; Twins

OBJECTIVETo enrich our national database with data of rare diseases by analyzing molecular diagnosis and hematopoietic stem cell transplantation (HSCT) in children with inherited bone marrow failure syndromes (IBMFS).

METHODNext-generation sequencing (NGS)-based genetic diagnosis panel was applied for the clinical diagnosis and management of IBMFS. Retrospective analysis was performed on clinical and genetic data of 17 consecutive children who received HSCT over a long time interval (November. 2005-June 2015).

RESULTThree patients were diagnosed only by clinical manifestation before 2012. After that NGS-based genetic diagnosis panel was used to identify IBMFS-related genes in 12/14.IBMFS patients (except two Diamond-Blackfan anemia (DBA) patients). Two Fanconi anemia (FA) patients were confirmed to be new variations through family-genotype-analysis and 3 families accepted prenatal diagnosis to avoid birth of affected fetuses. Seventeen IBMFS patients (10 FA,5 DBA and 2 dyskeratosis congenital (DKC)) were treated with HSCT from matched sibling donors (n=2), matched unrelated donors (n=8) or mismatched unrelated donors (n=7). The source of stem cells for transplantation included peripheral blood (n=12) and cord blood (n=5). With regard to the conditioning regimens, FA and DKC patients received fludarabine-based reduced intensity conditioning, while DBA patients received classical busulfan-based myeloablative conditioning. Median age at the time of HSCT was 36 months (7-156 months). The number of infused mononuclear cells and CD34⁺ cells was (10.6 ± 6.7) × 10⁸ and (5.9 ± 7.0) × 10⁶ per kilogram of recipient body weight, respectively. The median number of days to neutrophil recovery was 13 days after HSCT (range: 10-19 days). Platelet recovery was faster in the PBSCT group than in the CBT group ((16.3 ± 6.0) days vs. (30.0 ± 17.1) days,t=-2.487,P=0.026). During a median follow-up of 17 months (range: 2-114 months), except one FA patient who was transplanted with HLA-matched unrelated cord blood (CB) died from pneumonia and heart failure because of engraftment failure, other 16 children are alive after the successful HSCT. The failure-free survival rate of the patients three years after HSCT was 94%.

CONCLUSIONNGS-based molecular diagnosis technology and effective HSCT have significantly facilitated the treatment of children with IBMFS in our country, and our national database about this rare disease is to be further exploited.

Anemia, Aplastic ; Anemia, Diamond-Blackfan ; therapy ; Bone Marrow Diseases ; Child ; Dyskeratosis Congenita ; therapy ; Fanconi Anemia ; therapy ; Fetal Blood ; Hematopoietic Stem Cell Transplantation ; Hemoglobinuria, Paroxysmal ; diagnosis ; genetics ; therapy ; Humans ; Retrospective Studies ; Siblings ; Survival Rate ; Transplantation Conditioning ; Unrelated Donors ; Vidarabine ; analogs & derivatives ; therapeutic use

We report a case of neonatal thyrotoxicosis with concurrent respiratory failure in an infant born to a mother with Graves' disease and review the published literature describing neonatal hyperthyroidism. The male infant who was born by spontaneous delivery at 35 weeks of gestational age presented with fever, tachycardia and tachypnea at rest on day 11 after birth, and developed severe apnea on day 14. Thyroid function studies revealed hyperthyroidism in the infant, and his mother was confirmed to have Grave's disease during pregnancy. Literature review showed that among the 33 infants with similar conditions, tachycardia, tachypnea and poor weight gain were the most distinct clinical features of congenital hyperthyroidism. Accurate diagnosis of Graves' disease in the mother during pregnancy and awareness of the clinical presentations of neonatal hyperthyroidism are key to reducing missed diagnosis or misdiagnosis of neonatal hyperthyroidism.
Antithyroid Agents ; therapeutic use ; Apnea ; etiology ; Female ; Graves Disease ; blood ; Humans ; Hyperthyroidism ; blood ; complications ; diagnosis ; drug therapy ; Infant, Newborn ; Infant, Newborn, Diseases ; blood ; diagnosis ; drug therapy ; Infant, Premature ; Male ; Maternal-Fetal Exchange ; Pregnancy ; Pregnancy Complications ; blood ; Propylthiouracil ; therapeutic use ; Thyrotropin ; blood ; Thyroxine ; blood ; Triiodothyronine ; blood