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.

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.

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.

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.

Enlarging amniotic fluid 'sludge' in preterm labor associated with severe course of sepsis and recurrent tension pneumothorax in the infant.

Amniotic fluid 'sludge' (AFS) is defined as the presence of dense aggregates of hyperechogenic material in close proximity to the internal cervical os. The presence of AFS is an independent risk factor for impending preterm delivery, histological chorioamnionitis, and microbial invasion of the amniotic cavity in patients with spontaneous preterm labor with intact membranes, and preterm prelabor rupture of membranes. We describe a case showing enlarging AFS on transvaginal ultrasound in a patient with impending preterm labor, followed by chorioamnionitis and emergency cesarean section at 28 weeks of gestation, resulting in a severe course of sepsis and recurrent tension pneumothorax in the infant. Such a case has not been reported as far as we know. Based on our case, sonographic findings of enlarging AFS may be a predictor of severe neonatal outcomes in a case with preterm labor even though the maternal symptoms of inflammation are not obvious.

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.

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations in GLI3 were identified in both patients. Clinical and molecular findings of 12 previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. Genital features in the male patients included hypospadias, micropenis, and bifid or hypoplastic scrotum, whereas all the females had hydrometrocolpos and/or vaginal atresia. No hotspot for GLI3 mutations has been found. The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations. We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism.

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.

Umbilical cord cysts of allantoic and omphalomesenteric remnants with progressive umbilical cord edema: a case report.

We present a unique case of umbilical cord cysts of allantoic and omphalomesenteric remnants with progressive cord edema during pregnancy. Enlargement of the umbilical cord was observed initially at 28 weeks' gestation; the cord cysts were first recognized at 17 weeks. At 37 weeks, a cesarean section was performed and a male infant weighing 2,300 g was delivered. The entire length of the umbilical cord was 80 cm; the 50-cm proximal portion was strikingly edematous and was 7 cm in diameter. On the 1st day of life, operative exploration was undertaken via an infraumbilical incision. It was evident that a patent urachus protruded from the bladder. The lesion was excised and the bladder was closed in a two-layer anastomosis. Histologically, the intestinal epithelium was connected to the transitional epithelium at the top of the urachus, indicating allantoic remnants fused with omphalomesenteric remnants. Such a case has not been reported previously. It was considered that the overflow of urine from allantoic remnants to omphalomesenteric remnants caused the extraordinary edema of the umbilical matrix. Based on our experience, finding progressive umbilical cord edema may indicate a patent urachus co-existing with allantoic and omphalomesenteric remnants.

Hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct: prenatal ultrasound and MRI findings.

BACKGROUND: It is quite unusual for a fistula to communicate directly with the surface of the hernia sac, and associated prolapse of the ileum through a patent omphalomesenteric duct is also extremely rare. OBJECTIVES: We report a unique case of a fetus exposed to methimazole in utero, with a hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct. METHODS AND RESULTS: In this case, the umbilical cord was attached to a small unruptured omphalocele, to the right of which a small everted loop of the ileum had evaginated. The hernia sac measured 2.5 cm and contained only ileum. The ileal prolapse was T shaped and had two visible mucosal ostia, and meconium was discharging from the ostium on the oral side. We confirmed that this loop of small bowel had prolapsed through a patent omphalomesenteric duct, which had a fistulous communication with the surface of the hernia sac. This resulted in the misleading prenatal findings on ultrasound and MRI, which were suggestive of a gastroschisis. Such a case with prenatal ultrasound and MRI findings has not been reported previously. CONCLUSION: The observed congenital anomaly in our fetus might be associated with prenatal exposure to methimazole.

Monochorionic twin fetuses showing a reversal of donor-recipient phenotypes in severe twin-twin transfusion syndrome without oligo-polyhydramnios sequence.

Antenatal sonographic diagnosis of twin-twin transfusion syndrome (TTTS) is based on findings of a twin oligo-polyhydramnios sequence (TOPS) observed in monochorionic twin fetuses. However, TTTS can develop without a significant characteristic intertwin discordance in the amniotic fluid volumes. We report an uncommon form of TTTS without TOPS showing severe anemia in one twin and polycythemia in the other. Based on sonographic findings, it is considered that the recipient twin became the donor later in gestation, and vice versa. It is concluded therefore that even in the absence of TOPS, the possibility of severe TTTS with a suspected reversal of donor-recipient phenotypes during pregnancy should not be excluded, and serial Doppler studies including the measurement of the middle cerebral artery peak systolic velocity should be routinely performed even in seemingly uncomplicated monochorionic twin fetuses without TOPS.

Nonlinear analyses of heart rate variability in monochorionic and dichorionic twin fetuses.

AIMS: To examine whether the heart rate dynamics of a monochorionic diamniotic (MD) twin fetus is different from a dichorionic diamniotic (DD) twin fetus by nonlinear methods of time series analysis. METHODS: 32 fetal heart rate (FHR) recordings from healthy MD twin fetuses and 58 recordings from healthy DD twin fetuses were used. Nonlinear analyses included attractor reconstruction, calculation of the largest Lyapunov exponents, and estimation of correlation dimension. RESULTS: FHR of healthy twin fetuses was shown to have unique nonlinear characteristics. The largest Lyapunov exponent significantly increased during the pregnancy period. In 30-36 weeks, correlation dimension in MD twins was significantly lower than that in DD twins. In DD twins, we observed a significant increase of correlation dimension from 22-29 to 30-36 weeks. In 22-29 weeks, the difference of the values of correlation dimension in each MD twin pair was significantly lower than that in each DD twin pair. CONCLUSIONS: The heart rate dynamics of healthy MD and DD twin fetuses becomes more chaotic according to gestational age. From the viewpoint of the FHR-regulating system, a pair of MD twins seems to have a more strict binding than a pair of DD twins before 30 weeks' gestation.

Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.

OBJECTIVE/METHODS: Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period. RESULTS: Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome. CONCLUSIONS: When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues.

Fetus with prenatally diagnosed posterior mediastinal lymphangioma: characteristic ultrasound and magnetic resonance imaging findings.

Prenatal diagnosis of lymphangiomas located in the posterior mediastinum has been reported to be extremely rare. We present a fetus with a prenatally diagnosed posterior mediastinal lymphangioma found at 28 weeks' gestation. Fetal ultrasound and magnetic resonance imaging (MRI) revealed a 46 x 26 x 30 mm multicystic mass extending above the diaphragm, located in the posterior mediastinum. The mass was symmetrically shaped and surrounded the thoracic aorta. No remarkable change was noted in the size, shape and texture of the cyst by serial ultrasound and the fetus did not develop cardiac failure or hydrops in the antenatal period. Postnatal chest X-ray and MRI confirmed the prenatal findings. The infant was asymptomatic, so he was placed on close follow-up without any medical or surgical treatment.

Clinical features of polyhydramnios associated with fetal anomalies.

The purpose of this study was to examine the clinical features of pregnancy complicated by polyhydramnios associated with fetal anomalies. Sixty-nine patients with a singleton pregnancy complicated by polyhydramnios were retrospectively analyzed. Based on prenatal ultrasonographic findings, 13 cases were considered to have idiopathic polyhydramnios and the remaining 56 cases were associated with fetal anomalies. Between these two groups, no significant difference was found in the gestational weeks when polyhydramnios developed. However, significant difference was noted in the maximum amniotic fluid index (AFI) values during the pregnancy period; 25.4 +/- 2.7 cm in the former, and 30.6 +/- 8.9 cm in the latter (P = 0.0004). In all of 13 cases with idiopathic polyhydramnios, AFI values remained less than 30 cm until delivery. Twenty-two patients (39%) with fetal anomalies required a prenatal treatment such as amnioreduction and tocolysis, whereas only one patient (7.7%) with idiopathic polyhydramnios needed tocolysis therapy (P = 0.03). There was a significant risk of premature delivery with fetal anomalies (35.6 +/- 3.9 weeks' gestation vs. 38.8 +/- 1.5 weeks' gestation, P = 0.004) because of refractory polyhydramnios, rupture of membranes, non-reassuring fetal status, and intrauterine fetal death, and although most infants with idiopathic polyhydramnios were appropriate-for-dates, many of the infants with congenital anomalies were small-for-dates. Significant risk of fetal anomalies should be considered in pregnant women with severe polyhydramnios (AFI > or = 30 cm), an increased trend of amniotic fluid during the pregnancy period, polyhydramnios requiring a prenatal treatment, or fetal growth restriction. On the other hand, based on our experience, a fetus without these conditions seems to have a low risk of congenital anomalies even if polyhydramnios is noted.