Yasuhisa Nomura

Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: A case of X‐linked ichthyosis

X‐linked ichthyosis (XLI) is a relatively common genetic disorder that occurs in about one in every 2000–6000 male births. Clinically, XLI is characterized by a generalized scaling of the skin, with large, polygonal, dark brown scale, and more prominent on the extensor aspects of the limbs. It is known that an undetectable maternal serum, unconjugated estriol, associated with placental steroid sulfatase (STS) deficiency, may be the cause of cause of XLI. In most case, STS deficiency is caused by a complete or partial deletion of the STS gene mapped on chromosome Xp22.3. We describe here the prenatal detection of a male fetus affected with STS deficiency as a result of an undetectable unconjugated estriol in the second‐trimester maternal serum screening. Microdeletion of the STS gene was confirmed by fluorescence in situ hybridization analysis of cultured amniotic fluid.

Fetal hepatic hemangioma representing non-reassuring pattern in fetal heart rate monitoring

To the best of our knowledge, this is the first report of a non‐reassuring fetal pattern caused by a hepatic hemangioma that was found during fetal heart rate monitoring. A 37 weeks’ gestation, a 32‐year‐old‐woman was referred to our hospital for evaluation of a rapidly growing fetal abdominal tumor. Fetal heart rate monitoring revealed a non‐reassuring pattern, and a cesarean section was performed as a result. Examination of the 2820 g female infant suggested a hepatic hemangioma accompanying an intratumor hemorrhage and coagulopathy. The infant died 2 days after birth. The autopsy confirmed that the cause of death was a result of a hepatic hemangioma. Frequent monitoring of fetuses and ultrasound examinations are necessary for determining the timing of delivery and for a favorable prognosis.

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

The phenotypes associated with paternal uniparental disomy for chromosome 14 (UPD(14)pat) are clinically distinctive and caused by genetic alterations at the 14q32.2 imprinted region. Here we describe prenatal and neonatal findings in a case of epimutation associated with UPD(14)pat‐like phenotype. A 25‐year‐old Japanese woman was referred to hospital at 32 weeks of gestation for management of threatened premature delivery. Fetal ultrasound and magnetic resonance imaging showed a narrow thorax and polyhydramnios. At 35 weeks of gestation, emergency cesarean section was performed and placentomegaly was identified. Physical examination of the neonate indicated a small narrow thorax, diastasis recti, and dysmorphic facial features that included hirsute forehead, broad flat nasal bridge, micrognathia, small ears, and a long protruding philtrum. Genetic analysis identified epimutation at the intergenic differentially methylated region (IG‐DMR) and at MEG3‐DMR.

A novel MYH7 gene mutation in a fetus with left ventricular noncompaction.

Left ventricular noncompaction (LVNC) is a recently defined cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. LVNC is rarely described in fetal life, and a small number of cases have been reported. We report the first fetal case, to our knowledge, of LVNC associated with a novel mutation in the MYH7 gene (c.1625A>C; p.Lys542Thr). This patient showed cardiomegaly on prenatal ultrasonographic examinations, with features indicating noncompaction of the myocardium apparent in the second trimester. This case highlights the importance of prenatal ultrasonography for the diagnosis of LVNC and suggests that abnormal myocardial development underlies the pathogenesis of LVNC.

Influence of the Great East Japan Earthquake and the Fukushima Daiichi nuclear disaster on the birth weight of newborns in Fukushima Prefecture: Fukushima Health Management Survey

Abstract Objective: The Great East Japan Earthquake and Fukushima Daiichi nuclear disaster occurred on 11 March 2011. We investigated the incidence of SGA (small for gestational age) in the Fukushima Prefecture in newborns delivered by women who were pregnant at the time of the disasters and identified any risk factors for SGA. Methods: Subjects were women who were pregnant at the time of the disasters. Questionnaires were sent to the women who lived in the Hamadori area (seaside and near to the nuclear power plant) at the time of the disasters as well as to a control group of women who lived outside the Hamadori area. The incidence of SGA was compared. Logistic regression analysis was performed to identify the risk factors for SGA. Results: In total, 325(5.6%) women had infants with SGA. Neither area nor the trimester of pregnancy at the time of the disasters influenced the incidence of SGA. Pregnancy-induced hypertension (PIH) was higher in the SGA group. PIH was found to be an independent risk factor for SGA. Conclusion: We found no evidence that the Great East Japan Earthquake and the Fukushima Daiichi nuclear disaster increased the incidence of SGA in the Fukushima Prefecture.

The effects of veno-venous extracorporeal membrane oxygenation on hypoxic fetal lambs.

OBJECTIVE The purpose of this study was to determine the applicability of veno-venous extracorporeal membrane oxygenation (V-V ECMO) to support fetal oxygenation in utero. METHODS An ECMO system with a centrifugal pump was applied to ten chronically instrumented fetal lambs, at 126 or 127 days of gestation. Blood was obtained through a double-lumen catheter inserted into the right atrium. After oxygenation, the blood was returned through a single-lumen catheter into either the carotid artery (veno-arterial; V-A ECMO) or the right atrium (V-V ECMO). After fetal hypoxia had been experimentally produced, V-A ECMO or V-V ECMO was instituted to maintain fetal oxygenation. We compared fetal blood gases with both routes of ECMO. RESULTS Oxygen partial pressure (pO(2)) in the fetal cranial carotid artery decreased to 12.9 +/- 0.6 mmHg after reducing the fraction inspiratory oxygen of the mother. After instituting V-A ECMO, pO(2) was found to be 23.5 +/- 2.6 mmHg; after instituting V-V ECMO, pO(2) was found to be 20.3 +/- 1.9 mmHg. Thus, fetal acidosis increased under both procedures. Fetal heart rate and blood pressure were not altered significantly during the experiments. CONCLUSIONS This study indicates that V-V ECMO could more effectively and less traumatically maintain oxygenation in hypoxic fetal lambs.

The change of fetal heart rate short-term variability during the course of histological chorioamnionitis in fetal sheep

OBJECTIVE Histological chorioamnionitis (CAM) is related to neonatal mortality and morbidity. However, identifying intrauterine inflammation before delivery is challenging. The aim of this study was to investigate the changes in fetal heart rate (FHR) short-term variability (STV) during the course of histological CAM. STUDY DESIGN Changes in STV were measured in 7 chronically instrumented fetal sheep at 111-120 days of gestation. Lipopolysaccharide (LPS) was infused into the amniotic cavity for 2 days following the 4th postoperative day to develop histological CAM. STV was determined based on the R to R interval of the fetal electrocardiogram. We continued to observe the changes in STV until the time of intrauterine fetal death (IUFD). The umbilical cord and fetal membranes were evaluated histologically after IUFD. The experiment was divided into two phases: 1) the acute phase, defined as the 24-hour period between the first and second injections of LPS and 2) the perimortem phase, defined as the period between the second injection of LPS and IUFD. Changes in STV in both the acute and perimortem phases were evaluated using Friedmans test. A probability of <0.05 was accepted as statistically significant. RESULTS The fetuses died, on average, at 23.7 ± 4.9 h after the second injection of LPS. Both the umbilical cord and fetal membranes showed histological evidence of severe inflammation. During the perimortem phase, there were statistically significant differences in STV at each time point. STV increased significantly at 6, 4, and 3 h before intrauterine fetal death compared to the baseline. CONCLUSION Our study suggests that STV increased as the fetal condition deteriorated during the course of histological CAM.