official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 49 , Issue 3
Congenital Anomalies
Showing 1-8 articles out of 8 articles from the selected issue
  • 2009 Volume 49 Issue 3 Pages 97-101
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare providers in Japan regarding awareness, folic acid supplements and healthy diets. Awareness among laywomen was less than 20%, except for families who had experience with spina bifida in 2002, and 5 years later only pregnant women showed a significant increase in awareness. Awareness among healthcare providers varied from 12 to 76%, depending on their profession, and this proportion increased in five of the seven groups in 2007. The majority of laywomen obtained their information from mass media, while the majority of healthcare providers received information through media for professionals. Laywomen who used folate supplements and healthcare providers who recommended them were initially fewer than 25 and 37%, respectively. Five years later, however, pregnant women who used folic acid supplements increased from 9.1 to 43.1%. As awareness among non-pregnant laywomen and some healthcare providers is considerably low, information should be presented repeatedly to these groups. The difficulty in getting women to consume folic acid supplements is an argument for the government to require folic acid fortification of grains so that the prevention of neural tube defects can be maximized.
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  • 2009 Volume 49 Issue 3 Pages 102-107
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Aims: Human olfactory epithelium becomes functional at birth, but prenatal development remains unclear. In the present study, we aimed to clarify the development of human olfactory epithelium using scanning electron microscopy (SEM). Methods: The development of human olfactory epithelium was observed in 24 externally normal fetuses, which were formalin-fixed and long-preserved, with a crown-rump length (CRL) of 102–336 mm (gestational week 14–38). The olfactory mucosa in the superior wall of the nasal septum near the choana were dissected and observed under SEM. We examined the number of olfactory vesicles per unit area, diameter of olfactory vesicles, and number and length of cilia on olfactory vesicles. Results: At circa (ca) CRL 100 mm (ca 14 weeks), olfactory epithelium displayed several olfactory vesicles with 1–2 short cilia per unit area. At ca CRL 150 mm (ca 18 weeks), olfactory vesicles were present in small clusters, and cilia were longer. At CRL lager than 225 mm (ca 26 weeks), olfactory vesicles became located separately from each other, while length and number of cilia per olfactory vesicle were further increased. Conclusion: The present findings suggest that fetal olfactory epithelium becomes morphologically almost the same as that in adults in late gestation, much later than previously thought.
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  • 2009 Volume 49 Issue 3 Pages 108-112
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Jcl:ICR pregnant mice were immobilized for 120 minutes from days 8–12 of gestation, and their fetuses were examined for skeletal features on day 18 of gestation. In the stressed group, decreased maternal bodyweight gain and lower fetal weight were noted. In this group, the incidences of segmentation defects, fused ribs, absent lumbar vertebrae and full supernumerary ribs were increased in fetuses. In addition, fusion of the basi- and ex-occipital bones was frequently observed in this group (12.9%). This finding was seen at an incidence of 1.4% in the control group, usually in newborns during the ossification process of the occipital bone. Therefore, the fused basi- and ex-occipital bones were considered to be due to altered ossification, but not to be an abnormality. In summary, immobilization of Jcl:ICR mice during the period of fetal organogenesis induced altered ossification of the occipital bones as well as some abnormalities and supernumerary ribs.
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  • 2009 Volume 49 Issue 3 Pages 113-115
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9+5 weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.
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  • 2009 Volume 49 Issue 3 Pages 116-117
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT We report four cases of persistent cloaca diagnosed at 32–33 weeks of gestation. In cases of persistent cloaca, serial prenatal ultrasonography shows transient fetal ascites, enlarged cystic structures arising from the fetal pelvis. Our four cases of persistent cloaca were diagnosed prenatally. Persistent cloaca should be considered in any female fetus presenting with hydronephrosis and a large cystic lesion arising from the pelvis as assessed by ultrasound and magnetic resonance imaging. Neither pulmonary hypoplasia nor severe oligohydramnios were found in any of our four cases, and they each had a good prognosis. Prenatal diagnosis allows time for parental counseling and delivery planning at a tertiary care center for neonatal intensive care and pediatric surgery.
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  • 2009 Volume 49 Issue 3 Pages 118-120
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT We report three cases of ectopic thoracic (or superior ectopic) kidney; one in a neonate and two in 6-month-old children, associated with congenital diaphragmatic hernia. In all cases the diagnosis was made during surgery and confirmed by intravenous pyelography, sonography and magnetic resonance imaging in the postoperative period. Because of the rarity of this condition we report these cases together with a wide review of the published reports.
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  • 2009 Volume 49 Issue 3 Pages 121-122
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
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  • 2009 Volume 49 Issue 3 Pages 123-246
    Published: 2009
    Released: August 12, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT This update (Version 2) of the Terminology of Developmental Abnormalities in Common Laboratory Mammals (Version 1) incorporates improvements and enhancements to both content and organization of the terminology to enable greater flexibility in its application, while maintaining a consistent approach to the description of findings. The revisions are the result of an international collaboration among interested organizations, advised by individual experts and the outcomes of several workshops. The terminology remains organized into tables under the broad categories of external, visceral, and skeletal observations, following the manner in which data are typically collected and recorded in developmental toxicity studies. This arrangement of the tables, as well as other information provided in appendices, is intended to facilitate the process of specimen evaluation at the laboratory bench level. Only the commonly used laboratory mammals (i.e. rats, mice, rabbits) are addressed in the current terminology tables. The inclusion of other species that are used in developmental toxicity testing, such as primates, is considered outside the scope of the present update. Similarly, categorization of findings as, for example, ‘malformation’ or ‘variation’ remains unaddressed, in accordance with the overall principle that the focus of this document is descriptive terminology and not diagnosis or interpretation. The skeletal terms have been augmented to accommodate cartilage findings.
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