Satoshi Sohda

The Proportion of Fetal Nucleated Red Blood Cells in Maternal Blood: Stimation by FACS Analysis

The purpose of this study was to determine the proportion of fetal nucleated red blood cells (NRBCs) among enriched NRBCs and to evaluate the effectiveness of enriching NRBCs in maternal blood using fluorescence‐activated cell sorting (FACS) to separate NRBCs. The origin of enriched NRBCs was determined using fluorescence in situ hybridization (FISH) methods. Y‐specific signals were observed in 4·6 ± 1·5 per cent of the enriched cells from 14 of 16 (87·5 per cent) pregnant women who gave birth to boys. In this series, the specificity of the fetal sex diagnosis was 100 per cent, the sensitivity 88 per cent, and the negative predictive value 86 per cent. Fetal NRBCs are present in maternal blood and FACS has the potential to enrich fetal NRBCs. Fetal cells were estimated to be enriched more than 10 000‐fold in the first trimester and more than 100‐fold in the third trimester. Average frequencies of fetal cells in maternal blood were 8·1 × 10−5 and 1·6 × 10−5 in the first trimester and the second/third trimesters. However, most of the NRBCs in maternal blood are maternal in origin.

The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsia

AbstractPreeclampsia is associated with thrombosis of the intervillous or spiral artery. A deletion/insertion polymorphism (4G or 5G) in the promoter of the plasminogen activator inhibitor type 1 (PAI-1) gene is suggested to be involved in regulating the synthesis of the inhibitor, 4G allele, being associated with the enhanced gene expression and plasma PAI-1 levels. We assessed the association between preeclampsia and the 4G/5G polymorphism of the PAI-1 gene in 115 preeclamptic patients, 210 pregnant controls, and 298 healthy volunteer controls. The frequency of the homozygotes for the 4G allele was significantly higher in the patients than in the control pregnant women (P = 0.04) or in the healthy volunteers (P = 0.02). The 4G allele frequency was also significantly higher in the patients than in the control group of pregnant women (P = 0.03) and in the healthy volunteers (P = 0.02). These results suggest that the presence of the 4G/4G genotype of the PAI-1 gene is one of the risk factors for preeclampsia.

High temporal resolution dynamic contrast MRI in a high risk group for placenta accreta

Antenatal diagnosis of placenta accreta with MR is not easy even now because T2-weighted images (T2WI) cannot differentiate chorionic villi from decidua basalis. We performed dynamic contrast MRI to study whether trophoblastic villi could be separately demonstrated from the decidua basalis, and whether the contrast resolution between the placenta and myometrium could improve compared to T2WI. Six pregnant women with prior cesarean section were examined at 34-38 gestational weeks. Sagittal T2-weighted images with fast spin echo sequences and dynamic contrast studies with fast field echo sequence every 10-14 s after contrast injection were performed. We analyzed the enhancing pattern of the placenta and compared the contrast between placenta and myometrium. We reviewed medical records to identify complications during the placental delivery and the complications of their newborns. In the early phase after contrast enhancement, multiple foci of the strong lobular enhancement were observed in all cases. Other parts of placenta were slowly but strongly enhanced following them. We speculated that the former corresponded to intervillous space and the latter decidua basalis. The contrast between placenta and myometrium tended to be distinct near the inner cervical os on both T2WI and dynamic contrast study. On the other hand, it was indistinct in the upper part of the uterine body on T2WI despite it was clearly demonstrated on dynamic contrast study. The placentae were delivered without any complication in all cases. Although two neonates showed fetal distress, none of the infant remained any sequelae at the time of the discharge. The other four were well although one of them complicated with meconium staining. As dynamic contrast MRI can differentiate chorionic villi and decidua basalis, and can provide excellent contrast between placenta and myometrium at anywhere within the uterus, it may be a promising technique for antepartum diagnosis of the placenta accreta.

NEW ULTRASONOGRAPHIC CRITERION FOR THE PRENATAL DIAGNOSIS OF CLOACAL EXSTROPHY: ELEPHANT TRUNK-LIKE IMAGE

There are few reports of the prenatal diagnosis of cloacal exstrophy,1 and only 15 patients with this abnormality have been diagnosed by prenatal ultrasonography. In 1998 Austin et al reviewed these 15 cases and proposed criteria for the prenatal ultrasound diagnosis of cloacal exstrophy (see Appendix).2 We report on a neonate with cloacal exstrophy in whom, to our knowledge, the prenatal ultrasound findings of a wavy cord-like mass of soft tissue protruding from the abdominal wall below the umbilicus have not been previously described. This finding is useful for making the prenatal diagnosis of this anomaly and it should be added to the existing criteria. CASE REPORT A 27-year-old Japanese woman was referred to our department at 32 weeks of pregnancy with the diagnosis of oligohydramnios. Detailed ultrasonographic evaluation showed that the fetus had an omphalocele with an irregularly shaped mass of soft tissue protruding from the infraumbilical anterior abdominal wall. The bladder was not detected. Oligohydramnios made it difficult to evaluate the fetus. Accordingly the next day 300 ml. of warm normal saline were administered by amnio-infusion to obtain an improved ultrasonographic image.3 Repeat ultrasound revealed a wavy cord-like segment of soft tissue protruding from the anterior abdominal wall below the umbilicus that resembled the trunk of an elephant (fig. 1). It floated freely within the amniotic fluid and suggested a prolapsed terminal ileum. Again the bladder was not visualized. The prenatal ultrasonographic diagnosis was cloacal exstrophy. No myelomeningocele was noted. The size and position of each kidney were normal. There were no defects in the lower extremities and no widened pubic arches. At 36 weeks of gestation a live male neonate weighing 2,092 gm. was born vaginally. The newborn had cloacal exstrophy with associated imperforate anus and omphalocele (fig. 2). The bladder was divided in half by the interposed bowel. The terminal ileum hung down below the lower abdomen, creating an elephant trunk-like appendage. Chromosomal analysis revealed a 46, XY karyotype.

Diagnosis of fetal anomalies by three‐dimensional imaging using helical computed tomography

We present the first report on the use of helical computed tomography (CT), a new, non‐invasive diagnostic technique that produces three‐dimensional (3‐D) images, in prenatal diagnosis. This technique was used to construct 3‐D images in the prenatal diagnosis of two anomalous fetuses. The 3‐D images provided clear information about the anomalies: trisomy 18 in one case and cystic hygroma in the other. In one case, rapid intervention after a planned Caesarean section prevented respiratory distress. Surgery to correct the anomaly was performed 2 days postnatally; the infant recovered uneventfully.

Brain Natriuretic Peptide (BNP) and Cyclic Guanosine Monophosphate (cGMP) Levels in Normal Pregnancy and Preeclampsia

Objective: Our purpose was to evaluate plasma levels of brain natriuretic peptide (pBNP) and cyclic guanosine monophosphate (pcGMP) in preeclamptic patients and controls.

Prenatal ultrasonic diagnosis of a case of Ellis–van Creveld syndrome with a single atrium

Abstract We present an infant with the lethal Ellis–van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib–polydactyly syndrome (SRPS). We discuss the criteria for the differential diagnosis of patients with SRPS, which can be difficult because of the overlap of the various phenotypes.

Prenatal diagnosis of fetal subdural haematomas

References 1 Iliobachie GC, Njoku 0. Vesico-uterine fistula. Br J Urol 1985; 57: 438-439. 3 Issa MM, Schmid HP, Stamey TA. Youssef’s syndrome: preservation of uterine function with subsequent successful pregnancy following surgical repair. Urol In? 1994; 52: 220-222. Holden D, Vere M, Manyondu I. Vesico-uterine fistula occurring in a woman with a previous caesarean section and two subsequent normal vaginal deliveries. Br J Obsref Gynaecol 1994; 101: 354-356.

Postpartum MR diagnosis of retained placenta accreta

Retained placenta accreta can cause catastrophic postpartum hemorrhage. This study aims to determine whether MR imaging can differentiate retained placenta accreta from postpartum hemorrhage caused by other conditions. Fourteen cases suspicious for retained placenta were examined with MR imaging. Signal intensity, the enhancing pattern of uterine contents, and flow voids within the myometrium were retrospectively studied. As hysterectomy was performed in only two cases, final diagnosis was based on clinical outcome and analysis of uterine contents. Final diagnoses were retained placenta accreta in seven cases, retained normally attached placenta in four, hematoma in two, and placental site trophoblastic tumor (PSTT) in one. All seven cases with placenta accreta had a very hyperintense area on T2-weighted images, showing transient early enhancement. None demonstrated delayed strong enhancement around the hyperintense area. In two cases with retained normally attached placenta and in both with hematomas, there were no hyperintense areas on T2-weighted images. Of these, only one showed transient early enhancement. Flow voids were observed in four cases with placenta accreta, one with normally attached placenta, and the case with PSTT. A markedly hyperintense area on T2-weighted images and transient early enhancement without delayed strong enhancement between the mass and the myometrium can indicate retained placenta accreta.

Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese women.

AbstractThe Leiden mutation in the coagulation factor V (F5) gene associated with preeclampsia in Caucasians has not been found in Japanese populations. We examined the association of 20 missense polymorphisms in the F5 gene in 133 pregnant Japanese women with preeclampsia and in 224 unrelated, healthy, pregnant Japanese women. Among nine polymorphisms identified in the subjects, the M385T and R485K polymorphisms were associated with preeclampsia (P = 0.05 and P = 0.02, respectively). Haplotype analysis indicated that the R485K polymorphism is truly associated with preeclampsia, whereas the association of the M385T polymorphism is due to linkage disequilibrium. Taken together with reports that the R485 allele yields poor factor V function in comparison with that of the K485 allele and that the F5 Leiden mutation is associated with preeclampsia in Caucasian populations, the findings of the present study suggest that the F5 gene is associated with preeclampsia in pregnant Japanese women.