Down syndrome is the most common autosomal abnormality disease which has multiple congenital anomalies, occurring in 1 of every 800 liveborn infants. Neonates who are affected with this disease comprise majority of the mentally retarded children. To prevent the birth of this congenital anomaly, prenatal diagnosis of Doen syndrome is important. We experienced a case of Down syndrome, diagnosed by fluorescence in situ hybridization(FISH) in pregnancy for 15 weeks 6 days. We report here eith a brief review of the literatures.
This 31 years old female patient visited our hospital on July 2000, with complaint of painful ulceration on vulvar with withish coated membrane and oral mucosa ulceration at 28 weeks of pragnancy.
Behҫet's disease is an inflammatory disorder of unknown cause, characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesion.
We are present a case of Behҫet's disease in pregnancy with a brief review of literature.
Neural tube defects are a heterogenous group of malformations resulting from failure of neural tube closure during early embryogenesis. Anencephaly is the commonest form of neural tube defect and results from failure of closure of the anterior portion of the neural tube. Anencephaly is characterized by absence of the cranium along with cerebral hemispheres that are rudimentary or absent and risk of recurrence after affected child is 2-3%. Periconceptual folic acid intake may decrease the incidence and recurrence of anencephaly.
Most often, anencephaly is discovered by conventional two-dimensional ultrasonography at the time of attempted biparietal diameter determination for fetal age in the second trimester. Two-dimensional transvaginal ultrasonography has a limitation in a motion of the transducer shaft due to narrow space of the vagina. It is sometimes impossible to obtain information of the whole brain and to miss the fetal CNS(central nervous system) anomalies. Recent advanced three-dimensional ultrasonography has remarkably improved not only surface rendering but also multiplanar analysis of internal structure.
Recently, we encountered one case of recurrent anencephaly that had occurred in a same pregnant woman and three-dimensional transvaginal ultrasonography enabled us to diagnose anencephaly at 113 weeks of gestation. We report this case with brief review of the literatures.
This study has been composed of 5 cases of cordocentesis between 21 and 34 weeks of gestational age from February 1997 to January 1998 at the Ehwa Medical Center. Indications for cordocentesis were as follows : 1) rapid karyotyping 2) evaluation of hematologic status 3) intrauterine infection 4) evaluation of fetal acid-base status. The most common indication for cordocentesis was rapid karyotyping of fetal chromosome. All cases of this study were successful. In conclusion, cordocentesis is a safe and very useful procedure for evaluating fetal status.