日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
46 巻 , 4 号
Congenital Anomalies
選択された号の論文の11件中1~11を表示しています
  • 2006 年 46 巻 4 号 p. A1-A37
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
  • 2006 年 46 巻 4 号 p. 1-3
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
  • 2006 年 46 巻 4 号 p. 163
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
  • 2006 年 46 巻 4 号 p. 164-171
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  Holoprosencephaly (HPE) is one of the major brain anomalies caused by the failure of cleavage of the prosencephalon during the early stage of development. Over 200 cases of HPE in the Kyoto Collection of Human Embryos were observed grossly and histologically, with special emphasis on the anomalies of the brain, face and eye. The facial anomalies of HPE human embryos after Carnegie stage (CS) 18 could be classified into cyclopia, synophthalmia, ethmocephaly, cebocephaly, and premaxillary agenesis, similarly as the classical classification for postnatal cases. On the other hand, HPE embryos at CS 13–17 showed some characteristic facies which are different from those in older embryos. In the present paper, pathology and phenotypic variability in HPE embryos were discussed from the embryopathological point of view. Recently, the molecular mechanism of HPE has been clarified by the techniques of gene manipulation, and various HPE genes have been identified by gene analysis of familial HPE cases. HPE is one of the major CNS anomalies which have been extensively studied and provides a clue to the mechanisms of normal and abnormal development of craniofacial structures.
  • 2006 年 46 巻 4 号 p. 172-176
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  The intent of this study was to report on the epidemiology of hemivertebrae. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with hemivertebrae delivered during 1986–2002. Hemivertebrae rates per 10 000 births were determined for selected factors and comparisons made by calculating the rate ratio (RR) and 95% confidence interval (CI). Forty-two cases of hemivertebrae were identified, for a total rate of 1.33. Forty-one of the cases were live births, of which 26.83% expired within one year after delivery. Other major structural birth defects were found in 95.24% of the cases. The most frequent associated defect was scoliosis, affecting 54.76% of the cases. The rate among females was significantly lower than among males (RR 0.48, 95% CI 0.23–0.94). The rate was lower with maternal age ≥35 years (RR 0.50, 95% CI 0.10–1.57) and higher with birth weight <2500 g (RR 5.96, 95% CI 2.84–11.90) and gestational age <38 weeks (RR 3.94, 95% CI 2.01–7.64). The majority of hemivertebrae cases had other major structural birth defects. Hemivertebrae occurred predominantly among males and risk was lower with increased maternal age. Rates for hemivertebrae were higher with lower birth weight and gestational age. Further population-based research involving larger study populations are recommended to confirm these observations.
  • 2006 年 46 巻 4 号 p. 177-179
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  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 ≥ 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.
  • 2006 年 46 巻 4 号 p. 180-187
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  When pregnant women abuse methamphetamine, the foremost concern is the potential adverse effect of this substance on fetal development. Clinical studies in humans have found that exposure to methamphetamine during brain development can cause neurobehavioral abnormalities, such as aggressive behavior, learning problems, and poor social adaptation. In the present study, we examined the effects of prenatal methamphetamine exposure on brain development in rats. The first group of pregnant rats was administered methamphetamine at a dose of 5 mg/kg/day during gestational day (GD 10 to GD 20 [MA]. The second group of pregnant rats was injected with saline vehicle only [SAL]. On GD 21 their fetuses were removed and fetal brains were observed. We found various types of morphological damage in MA fetal brains, including microgyria, ectopia, and hemorrhage. In some cases, abnormal distribution of the leptomeninx, such as breach or accumulation, was observed in addition to these histological abnormalities. Therefore, we examined the expression of laminin, which is an important component of the pia mater, in the fetal brains. However, Western blot analysis revealed that there was no difference in expression amount of laminin in whole fetal brain between the MA and SAL groups. We concluded that methamphetamine use during pregnancy can cause histological brain alterations in fetuses. Morphological alterations of brain seen in the present study and previous human studies following prenatal exposure to methamphetamine might be related to the neurobehavioral abnormalities seen in patients who had been exposed to methamphetamine in utero.
  • 2006 年 46 巻 4 号 p. 188-193
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  Rats of the Jcl: Wistar-TgN (ARGHGEN) 1Nts strain (Mini rats) are transgenic animals carrying an antisense RNA transgene for rat growth hormone (GH); they show poor somatic growth and a low blood GH level compared to age-matched wild-type Wistar (non-Mini) rats. The purpose of the present study was to investigate age-related changes in growth hormone-immunoreactive (GH-IR) cells in the anterior pituitary gland (AP) of Mini rats at four, six, and eight weeks of age. The body weight and size of the GH-IR cells of Mini rats was significantly lower than that of non-Mini rats at six and eight weeks of age; however, this difference was not observed at four weeks of age. The AP volume and the number of GH-IR cells in Mini rats were significantly smaller than those of the age-matched non-Mini rats at the three ages. These results suggest that the abnormal development of GH-IR cells in the AP induced by the GH antisense RNA transgene is responsible for the poor somatic growth and the low blood GH levels in Mini rats.
  • 2006 年 46 巻 4 号 p. 194-198
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
    ABSTRACT  Hydroxyprogesterone, a synthetic progestin, was used for the treatment of pregnant women with threatened abortion and preterm delivery. Previous studies showed some association between hydroxyprogesterone use during early pregnancy and some specific congenital abnormalities. The population-based large Hungarian data set seemed to be appropriate to check this possible association. The Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996 includes 22 843 cases with congenital abnormalities and 38 151 controls without any defect. 318 (1.4%) cases, while 433 (1.1%) controls had mothers with hydroxyprogesterone treatment during pregnancy (adjusted POR with 95% CI: 1.3, 1.1–1.5). However, there was no association between risk for any congenital abnormality group and a higher use of maternal hydroxyprogesterone treatment during the second and third month of gestation. On the other hand hydroxyprogesterone is not effective in the prevention of preterm delivery. In conclusion, there was no detectable risk for congenital abnormalities in the offspring of mothers with hydroxyprogesterone treatment during early pregnancy, however, there is no reasonable indication of this treatment during pregnancy.
  • 2006 年 46 巻 4 号 p. 199
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
  • 2006 年 46 巻 4 号 p. 200-201
    発行日: 2006年
    公開日: 2021/08/07
    ジャーナル オープンアクセス
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