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.

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.

Multifractal description of the maternal surface of the placenta.

BACKGROUND: Recently, multifractal analysis based on generalized concepts of fractals has been applied to biological tissues composed of complex structures. METHODS: Using digitized images of the maternal surface of 278 placentas, multifractal parameters were measured with a fractal analysis software. RESULTS: The values of alpha(min), alpha(0), alpha(max) and the degree of multifractality given by the alpha(max) - alpha(min) difference calculated from 278 placentas were 1.840 +/- 0.068, 2.089 +/- 0.034, 2.856 +/- 0.128 and 1.017 +/- 0.136, respectively. A significant decrease of alpha(min) and as a consequence a significant increase in the degree of multifractality were observed according to gestational age. The alpha(0) value of the placenta complicated by pregnancy-induced hypertension (PIH) was significantly higher than that without PIH. The alpha(min) and alpha(0) values of the placenta having intrauterine growth restriction (IUGR) were significantly higher than those without IUGR. On the other hand, the presence of chorioamnionitis did not change multifractal properties of the maternal surface of the placenta. CONCLUSION: The multifractal parameters may be objective indices of the heterogeneity or complexity of the macroscopic morphology of the maternal surface of the placenta. Multifractal analysis holds a promise for quantitatively evaluating physiological and pathological development of the placenta.

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.

Comparison of biochemical markers and cervical length for predicting preterm delivery.

AIM: To examine the clinical utility of several prognostic factors for predicting preterm delivery. METHODS: One hundred and nineteen patients with a singleton pregnancy admitted to our hospital because of symptoms of preterm labor were included in this study. Maternal serum C-reactive protein (CRP), transvaginal sonographic measurement of cervical length (CL), granulocyte elastase (EL) in cervical secretions, fetal fibronectin (fFN), alpha-fetoprotein (AFP), and insulin-like growth factor binding protein-1 (IGFBP-1) in vaginal secretions were examined on admission. EL, fFN, AFP, and IGFBP-1 were measured by bed-side test kits. Correlation between each factor and the duration of pregnancy (from admission to delivery) was investigated. RESULTS: A significant correlation was found between the duration of pregnancy and CRP (r= -0.37, P<0.001), but not CL. The duration was significantly shorter in the fFN-positive group than in the negative group (P=0.0015). However, no significant difference was observed between the positive group and the negative group for each of CL, EL, AFP and IGFBP-1. CONCLUSION: Association between the duration of the pregnancy and two biochemical markers (CRP and fFN) was confirmed. As they can be examined quickly and easily, they are quite useful for estimating prognosis of preterm labor.

Dichorionic twin fetuses with VACTERL association.

Although prenatal diagnosis of VACTERL (vertebral defects, anal atresia, cardiac anomaly, tracheal-esophageal fistula with esophageal atresia, renal defects, and radial limb dysplasia) association is not always possible, ultrasonography and magnetic resonance imaging can visualize some of the characteristic findings of this condition. Because infants with this condition usually require significant surgical treatment and care, prenatal detection with those imaging modalities should assist in proper planning for delivery and anticipated care of the neonate. In this report, we present dichorionic twin fetuses, both of whom were found postnatally to have this condition, and suggest the possible relationship between this disorder and intracytoplasmic sperm injection. As far as we know, this is the first report of twin fetuses affected by VACTERL association.

Fractal analysis of the maternal surface of the placenta: preliminary report.

AIMS: The objective of this study was to determine whether the maternal surface of the placenta is fractal, and whether the mean fractal dimension differs according to the gestational age and clinically or pathologically different conditions. METHODS: Using digitized images of the maternal surface of 75 placentas, fractal dimensions were measured with a fractal analysis software. RESULTS: The mean fractal dimension of the maternal surface of the placentas significantly exceeded the topological dimension of a surface (= 2). This means that the morphological pattern of the maternal surface fulfills the mathematical definition of fractal structures. Among the three different groups of gestational age, the mean fractal dimension in 22-29 weeks was significantly lower than that in 30-36 and 37-41 weeks (p = 0.022 and 0.014, respectively). Although not significantly different (p = 0.149), in 30-36 weeks the mean fractal dimension of the placentas complicated by pregnancy-induced hypertension (PIH) was greater than that without PIH. CONCLUSION: Fractal geometry, a vocabulary of irregular shapes, can be useful for describing quantitatively the architecture of the maternal surface of the placenta and become a useful tool for analyzing physiological and pathological placental formation mathematically.

Pregnancy complicated by diffuse chorioamniotic hemosiderosis: obstetric features and influence on respiratory diseases of the infant.

AIM: To clarify the clinical features of pregnancy and neonatal respiratory problems associated with diffuse chorioamniotic hemosiderosis (DCH). METHODS: Sixteen singleton cases of DCH without chorioamnionitis (CAM) were retrospectively analyzed and compared with gestation- and birthweight-matched controls (32 cases of CAM and 32 cases of non-DCH-non-CAM). Maternal symptoms and respiratory problems of the infants were investigated. RESULTS: All 16 cases with DCH resulted in preterm delivery from 23 to 35 weeks' gestation. The presence of subchorionic hematoma in the first trimester (P < 0.001), recurrent vaginal bleeding (P < 0.001), brownish amniotic fluid (P < 0.001) and amniotic necrosis or degeneration (P < 0.001) were significantly more frequent in the DCH group compared to the CAM and non-DCH-non-CAM groups. The incidence of dry lung syndrome and persistent pulmonary hypertension of the newborn (PPHN) was significantly higher in the DCH group than in the CAM (P < 0.001) and non-DCH-non-CAM (P < 0.001) groups. CONCLUSION: Long-term exposure to degenerating red blood cells is supposed to damage amnion, fetal alveolar epithelial cells and fetal pulmonary arteries, and may lead to dry lung syndrome and PPHN in the infant complicated by DCH.

Sudden fetal hemorrhage from umbilical cord ulcer associated with congenital intestinal atresia.

There have been several reports of umbilical cord ulcer (UCU) associated with congenital intestinal atresia, many cases of which have been reported with fetal or neonatal death. Herein is described the case of a fetus with jejunal atresia complicated by acute massive intrauterine hemorrhage due to the perforation of UCU resulting in an intact survival. Although the onset of critical condition in the present case was noted due to continuous fetal heart rate (FHR) monitoring, it is necessary to establish the management of congenital intestinal atresia to prevent this life-threatening fetal hemorrhage.