Transient Recovery of Complete Atrioventricular Block Due to Maternal Anti-SS-A Antibody Through Antenatal Steroid Administration After 27 Weeks of Gestation.

Maternal anti-SS-A antibodies may cause complete atrioventricular block or myocardial damage in a fetus. Effective treatment for this has not been established. Although antenatal steroids may be a treatment option for anti-SS-A antibody-related myocarditis or atrioventricular block, a complete atrioventricular block is usually considered irreversible once established. Previous reports have indicated that, in cases where antenatal steroids were effective for atrioventricular block, they were administered earlier in the pregnancy. Here we present a case where maternal steroid administration initiated from 27 weeks, which is beyond the recommended optimal treatment period, was effective in altering a complete atrioventricular block to a grade I atrioventricular block.

Severe Consumptive Coagulopathy in an Extremely-Low-Birth-Weight Infant with Intra-Abdominal Umbilical Vein Varix: A Case Report.

Recent studies have shown favorable outcomes for intra-abdominal umbilical vein varices (IUVVs) in term neonates who have no other complications. Little is known, however, about the prognosis of IUVVs in preterm neonates. We encountered a case of IUVV in an extremely low-birth-weight infant who developed severe consumptive coagulopathy after birth. The patient's coagulation test normalized as the varix spontaneously obstructed. Although life-threatening hemorrhagic complications were avoided, a cerebellum hemorrhage was found in the brain magnetic resonance imaging at the term-equivalent age. In a literature survey, coagulopathy was reported in 4 out of 15 infants with IUVVs born before 34 weeks of gestation, including our present case. Preterm infants with IUVVs may develop coagulopathy because of the prematurity of their coagulation-fibrinolysis systems. Attention should be given to the coagulation status of preterm neonates with IUVVs.

Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings.

Congenital chloride diarrhea (CLD) is a rare hereditary disease. The basic defect of CLD is massive loss of Cl(-) and fluid into the ileum and colon. Prenatal diagnosis of this disease is quite important because the infant requires electrolyte supplementation from the early postnatal period. Two cases in which prenatal diagnoses of CLD were made in siblings are reported. Extreme electrolyte imbalance may cause fetal cardiac dysfunction or a poor general condition leading to a non-reassuring fetal status in cases with CLD. Therefore, frequent fetal monitoring using cardiotocograms and ultrasound may be beneficial to some fetuses with CLD to detect fetal deterioration. In addition, repeated amnioreduction may be required to treat severe polyhydramnios and threatened preterm delivery.

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.

Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency.

Birthweight placental weight ratio of appropriate-for-dates and light-for-dates infants in preterm delivery.

AIM: Although birthweight placental weight ratio (BPR) may be a promising indicator which reflects pathophysiology of fetal growth restriction (FGR), the standard of BPR changes throughout gestation in a Japanese population has not been established as far as we know. Therefore, we first examined BPR of appropriate-for-dates (AFD) infants in each gestational week in preterm deliveries. We then compared it with that in a group of light-for-dates (LFD) infants born from mothers with and without pregnancy-induced hypertension (PIH). MATERIAL AND METHODS: Placentas of a singleton pregnancy with 373 AFD and 110 LFD infants delivered from 22 to 36weeks of gestation in our hospital during the period between September 2000 and December 2008 were included. We examined the placental weight and BPR of each gestational week in AFD and LFD groups. And the mean BPR and placental weight in the three groups (AFD: LFD with PIH: LFD without PIH) were compared according to gestational periods. RESULTS: The placental weight and BPR were significantly correlated to the gestational week both in AFD and LFD groups. We found that although the mean BPR in LFD-PIH(-) group was significantly lower than those both in AFD group and in LFD-PIH(+) group in 22-29weeks, the mean BPR in 30-36weeks was not statistically different among these three groups. CONCLUSION: Our result in the AFD group may be useful as one of the standards of BPR changes throughout gestation in a Japanese population for future studies. We believe that BPR may be a clinically useful indicator which reflects pathophysiology of FGR.

Transplacental fetal therapy for junctional ectopic tachycardia.

Junctional ectopic tachycardia (JET) is a rare type of tachyarrhythmia. A 39-year-old woman was transferred to our hospital for fetal tachyarrhythmia at 32 weeks' gestation. Fetal cardiac sonography revealed atrial and ventricular rates of 120-130 and 175-230 bpm, respectively, without 1:1 atrioventricular relationship. As ventricular tachycardia was considered to be the most probable diagnosis, transplacental therapy with digoxin and sotalol was done with partial response. Diagnosis of JET was made after birth. Although fetal JET is rare and prenatal diagnosis and treatment of this condition is still a challenge, differential diagnosis of fetal tachyarrhythmia should include this disorder.

Fetal therapy of severe symptomatic toxoplasmosis using azithromycin.

Severe symptomatic fetal toxoplasmosis rarely occurs after the maternal primary infection of Toxoplasma gondii. We herein report our experience of fetal therapy of symptomatic toxoplasmosis using azithromycin. Ultrasound assessment at 23 weeks' gestation revealed fetal ascites, cardiac effusion, cardiomegaly, enlarged lateral ventricles and thickened placenta. Serum Toxoplasma gondii antibody titer was ×81,920. Toxoplasma immunoglobulin M was 2.4 index (normal, <0.8 index), and immunoglobulin G was ≥240 IU/mL (normal, <6 IU/mL). Maternal oral administration of azithromycin in addition to sulfadoxine, pyrimethamine and acetylspiramycin was conducted. Spontaneous vaginal delivery occurred at 32 weeks and a male infant weighing 2036 g was born. Hepatosplenomegaly, chorioretinitis, hydrocephalus, intracranial calcifications, ascites, and meningitis were confirmed after birth. The infant underwent therapy with pyrimethamine and sulfadiazine. It seems imperative to establish a new drug choice for fetal therapy of severe symptomatic toxoplasmosis in order to reduce the maternal and fetal risks of drug side-effects.

Voronoi diagram description of the maternal surface of the placenta: preliminary report.

AIM: Voronoi diagram is defined as a diagram of a collection of geometric points that defines a partition of space into cells, each of which consists of the points closer to one particular point than to any other. The distinctive feature of a placentone is the fetomaternal circulatory unit which is composed of one villous tree with a corresponding, centrifugally perfused portion of the intervillous space. Based on this placental architecture, in this study we generated Voronoi diagram from the photographic images of the maternal surface of the placenta and compared them with the shapes of the actual placentones. MATERIAL AND METHODS: We simulated the placentones of 12 placentas based on Voronoi diagram using a computer program, and compared them with the photographic images of the actual maternal surface of the placentas. The point was carefully selected and adjusted so that the generated Voronoi diagram could represent the actual maternal surface of the placenta. RESULTS: Voronoi diagram simulated satisfactorily the borders of placentones in 10 placentas. However, we could not succeed in the simulation in two cases. CONCLUSION: It seems that development and formation of placentones are not only theoretically and physiologically explainable by Voronoi diagram, but also actually achieved by this mechanism. We believe that mathematical Voronoi diagram holds a promise for evaluating physiological and pathological development of the placenta.

Successful prenatal and perinatal management of a massive cervicofacial teratoma.

We report a fetus with a massive cervicofacial teratoma successfully managed in the prenatal and perinatal period. A 34-year-old woman was referred to our hospital at 16 weeks' gestation. Ultrasound examination revealed a left anterolateral fetal neck mass indicating typical findings of a teratoma. The tumor grew to tremendous size until occupying most of the uterine cavity causing severe discomfort for the patient. This necessitated ultrasound-guided removal of the intracystic fluid of the massive cervicofacial teratoma during pregnancy. Fetal MRI clearly demonstrated the mass extending from the orbit to the anterior chest wall without compression or deviation of the fetal airway. The entire mass increased to 18 cm in diameter at 37 weeks' gestation. Classical cesarean section was performed immediately after ultrasound-guided removal of the fluid from the cyst. A female infant weighing 3562 g was delivered. Resection of the tumor was accomplished on day 28 of life. The successful outcome in our case illustrates the value of accurate prenatal diagnosis of a giant cervicofacial teratoma using ultrasound and MRI, and careful management of the mother and fetus during the prenatal and perinatal period. It seems that ultrasound-guided removal of the intracystic fluid from the tumor during pregnancy should be considered to prevent preterm delivery.

Neurodevelopmental outcomes of very low birth weight and extremely low birth weight infants at 18 months of corrected age associated with prenatal risk factors.

BACKGROUND: Very premature infants occasionally have neurodevelopmental disabilities. However, there have been quite limited data on prenatal risk factors associated with their neurodevelopmental outcomes. AIM: To clarify the relationship between prenatal risk factors and neurodevelopmental outcomes of very premature infants. STUDY DESIGN: The study design is a retrospective review. SUBJECTS: One hundred seventy Japanese women with a singleton pregnancy and their infants whose birth weight being less than 1500 g were included. We classified those infants into 118 appropriate for gestational age (AGA) and 52 small for gestational age (SGA) infants. OUTCOME MEASURES: Infants' neurodevelopmental outcomes at 18 months of corrected age were evaluated by the Kyoto Scale of Psychological Development 2001 (KSPD). We analyzed and compared the infants' outcomes and prenatal risk factors between two groups. RESULTS: Mortality and rate of infants unevaluable by KSPD because of severe impairment were not significantly different between those groups. However, the developmental quotient score of the cognitive-adaptive area in SGA infants born between 25 and 31 weeks of gestation was significantly lower than that in AGA infants randomly selected as gestation-matched controls. More advanced gestational age and heavier birth weight protected against adverse neurodevelopmental outcomes in both groups. Moreover, male infants were related to the excess risk of adverse neurodevelopmental outcomes in the SGA group. CONCLUSION: In view of the neurodevelopment of the infants, it seems that the most efficient obstetric strategy for improving prognosis of premature infants should be targeted to prolong the pregnancy period as long as the reassuring fetal status and maternal stable health condition are being confirmed.

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).

The X-linked recessive type of chondrodysplasia punctata (CDPX1) is a skeletal disorder that is characterized by stippled calcification at an epiphyseal nucleus and the surrounding soft tissue, short stature and an unusual face because of nasal hypoplasia. In most of the patients, this condition is noted after birth because of a characteristic face or respiratory problems. Here, we report a fetus with CDPX1. Two-dimensional ultrasound examination revealed unexplained polyhydramnios and a male fetus. Fetal biometry showed shortened long bones. Three-dimensional ultrasonography clearly demonstrated a hypoplastic nose with a depressed nasal bridge and contracture of wrists and fingers. Chromosome analysis of the amniotic fluid cells revealed the 46,Y,del(X)(p22.3) karyotype. Fluorescence in situ hybridization revealed a deletion of subtelomeric sequences at the Xpter and STS gene, but not a deletion of the KAL gene. The genomic copy number analysis demonstrated terminal deletion of 8.33 Mb that included SHOX, CSF2RA, XG, ARSE, NLGN4 and STS genes. We think that our case presents typical features of a fetus with this disorder and will be of great help in prenatal ultrasound diagnosis.

Prenatal ultrasound and magnetic resonance imaging depiction of a small sublingual ranula.

Prenatal diagnosis of a congenital ranula has rarely been reported. We describe the case of a small ranula depicted on prenatal sonogram and magnetic resonance imaging, in which we could confirm the intact airway. Although the size of the ranula noted in our fetus was the smallest among the cases reported in the English literature, both of these imaging modalities clearly presented typical diagnostic features present on both ultrasound and magnetic resonance imaging.

Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography.

Holt-Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow-up of a fetus at risk for this syndrome. An abnormal four-chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3-D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.

Free peritoneal cyst with histologic properties of amniotic epithelium observed in a woman pregnant with twins.

We report an interesting case of a free peritoneal cyst in a woman pregnant with twins. As far as we know, a cyst with histologic properties similar to the metaplastic stratified squamous epithelium of the amnion has not been reported. A 20-year-old Japanese woman pregnant with twins underwent cesarean section at 29 weeks of gestation. A simple serous cyst 5 cm in diameter was found at excavatio vesicouterina. The cyst was not attached to the surrounding organs, and was located independent of any other tissues in the patient's abdominal cavity. Histologic examination revealed that the cyst wall was composed of three major layers (epithelium, mesenchyme and mesothelium) with no vessels. Immunohistochemical staining with human chorionic gonadotropin (HCG), cytokeratins, vimentin, placental alkaline phosphatase (PAP) and cluster of differentiation (CD) 31, showed that the cyst wall had characteristic features of the amniotic membrane. Alleles of the patient's husband were not identified when the cyst was genotyped. Some of the patient's loci were deleted and others showed a structurally heterogeneous pattern. These findings suggest that the cyst was derived not from the ovum parthenogenesis, but from the patient's somatic cells and could have been incubated by ascites.

Changes in umbilical arterial blood flow by an intraamniotic distilled water infusion.

OBJECTIVES: The purpose is to investigate how umbilical arterial blood flow changes by an intraamniotic distilled water infusion and to determine whether the changes in umbilical circulation have any relationship with fetal cardiovascular status and osmolality in amniotic fluid and fetal plasma. METHODS: Eleven chronically catheterized pregnant sheep were used in this study. After a 1-hour control period, 1.5 L of warmed sterile distilled water was injected over 10 minutes into the amniotic cavity. Fetal heart rate and carotid arterial pressure, blood flow of the umbilical and fetal carotid arteries were continuously measured. Fetal arterial blood sampled twice during the control period and then at 30, 60, 90, 120, 180, 240, 300, and 360 minutes after the start of the infusion, was analyzed for blood gases, pH, plasma electrolytes, and osmolality. RESULTS: Data obtained from seven sheep with normoxemic fetuses were studied statistically. Umbilical arterial blood flow decreased significantly from 229.5 +/- 3.83 mL/min in the control to 167.4 +/- 11.1 mL/min at 30 minutes after water infusion (P < .001). Umbilical arterial vascular resistance increased rapidly and reached its peak at approximately 60 minutes after infusion and then showed a gradual recovery to the control level (P < .001). Amniotic fluid osmolality had a high degree of correlation with umbilical arterial blood flow and vascular resistance, while fetal arterial blood pressure and heart rate had only little correlation with umbilical blood flow. CONCLUSION: A distilled water infusion into the amniotic cavity in near-term pregnant sheep led to an acute drop in umbilical arterial blood flow. The changes in umbilical flow were closely correlated with those in amniotic fluid osmolality. Hemolysis in the capillary networks in the fetal membranes seems to be one of the main causes of umbilical vasoconstriction. It is speculated that the fetal membranes, including capillary networks, intramembranous pathway, and amnion epithelial cells, sense the changes in amniotic fluid osmolality, which leads to a fetal adaptation to the hypotonic environment.

Catastrophe theory model for decelerations of fetal heart rate.

BACKGROUND: Decelerations of fetal heart rate (FHR) are the results of many pathophysiological factors that modulate the intrinsic rate of the heart. FHR change is a complex phenomenon and can be viewed as a type of nonlinear dynamic system. This paper presents a qualitative model of FHR decelerations based on catastrophe theory, especially to account for abrupt heart rate changes seen in variable decelerations. METHODS: One of the elementary catastrophes, the cusp catastrophe, was used to model FHR changes seen in variable, late, and early decelerations. RESULTS: Catastrophe theory describes typical variable decelerations as an abrupt response to a slowly changing force of attack (uterine contraction) and physiological defense. Because of its three-dimensionality and topological features, the cusp catastrophe model provides a qualitatively satisfying description of FHR decelerations. CONCLUSION: The organized complexity of living systems offers the best hope for the application of catastrophe theory. The nature of the elementary catastrophes will be essential knowledge in the mathematical analysis of biology.

Nonlinear analyses of heart rate variability in normal and growth-restricted fetuses.

BACKGROUND: Many studies on the physiology of the cardiovascular system reported that nonlinear chaotic dynamics may govern the generation of the heart rate signal. OBJECTIVE: To examine whether the heart rate dynamics of an intrauterine growth restricted (IUGR) fetus is different from a healthy normal fetus by nonlinear methods of time series analysis. DESIGN OF THE STUDY: One hundred nineteen fetal heart rate (FHR) recordings from healthy normal fetuses, and 69 recordings from IUGR fetuses were analyzed. Nonlinear analyses included attractor reconstruction, calculation of the largest Lyapunov exponents using the Wolf algorithm, and estimation of correlation dimension. The largest Lyapunov exponents from normal fetuses were checked by means of surrogate-data test. RESULTS: Abnormal FHR patterns of IUGR fetuses such as decreased variability and repetitive late decelerations presented a remarkably different structure in the reconstructed attractor. Surrogate data suggest that the FHR of healthy normal fetuses has unique nonlinear characteristics. The largest Lyapunov exponents were positive for all of 119 healthy normal fetuses, indicating that the FHR control system is sensitive to initial conditions. The values of IUGR fetuses were significantly lower than those of normal subjects. In normal fetuses, significant changes of correlation dimension according to gestational age were observed. In IUGR fetuses, however, such changes were not found. CONCLUSIONS: The heart rate dynamics of IUGR fetuses is less chaotic than that of normal fetuses. Decreased system complexity suggested by correlation dimension may limit the IUGR fetuses' ability to maintain cardiovascular integrity, and therefore, to adapt to the variety of internal and external cardiovascular stresses.

Fetal hydrops associated with congenital pulmonary myofibroblastic tumor.

Abstract We report on a fetus with a congenital pulmonary myofibroblastic tumor, the prenatal detection of which with imaging modalities has not been reported up until now. A 32-year-old woman was referred to our hospital at 29 weeks' gestation because of severe fetal hydrops. Sonograms and magnetic resonance imaging showed a large solid tumor in the left thorax. The fetus died in utero the next day. Autopsy confirmed that the tumor was confined to the lower lobe of the left lung, and circulatory insufficiency from compression by the tumor was considered to be the cause of fetal hydrops and demise. Histologic examination revealed that the tumor was composed of uniform short spindle cells with no atypia and a large number of vessels. In addition, with immunohistochemical studies, the tumor cells were stained for calponin but not for cluster differentiation (CD)-31, CD-34, alpha-smooth muscle actin or S-100.