Résumé
Holoprosencephaly is a complex abnormality of the forebrain that is postulated to derive from a failure in the diverticulation of the embryonic prosencephalon. Early antenatal diagnosis of holoprosencephaly is important to find out its severity, to predict its prognosis and to determine proper treatment according to its prognosis and severity. With recent development of high resolution ultrasonography, it is possible to detect a fetus with holoprosencephaly at early antenatal period. We report a case of alobar holoprosencephaly, diagnosed antenatally with its sonographic and autopsy finding.
Sujets)
Autopsie , Foetus , Holoprosencéphalie , Diagnostic prénatal , Pronostic , Prosencéphale , ÉchographieRésumé
Spontaneous uterine rupture during the second trimester of pregnancy is a rare obstetric emergency. When a patient presents with acute abdominal pain and signs of hemorrhagic shock, a number of differential diagnoses must be considered. Early diagnosis and proper management is necessary to decreased the high maternal and fetal morbidity and mortality associated with rupture of uterus. We present a case of spontaneous rupture of the uterus in the 18th week of pregnancy with a brief review of literatures.
Sujets)
Femelle , Humains , Grossesse , Douleur abdominale , Diagnostic différentiel , Diagnostic précoce , Urgences , Mortalité , Deuxième trimestre de grossesse , Rupture , Rupture spontanée , Choc hémorragique , Rupture utérine , UtérusRésumé
OBJECTIVES: To analyze 2942 cases of prenatal genetic amniocentesis with their cytogenetic results. METHODS: This study reviewed 2942 genetic amniocentesis results which were perfomed at Ilsin Christian Hospital from 1993 to 1999, as prenatal genetic diagnosis for the possibility of chromosomal abnormality of fetus. Age distribution, gestational weeks, indications of amniocentesis and cytogenetic results were the key factors for the analysis. RESULTS: Maternal ages were ranged from 20 to 45, mostly 25-39. Of indications of prenatal genetic amniocentesis, abnormal maternal serum marker was the most common(57.9%) and followed by advanced maternal age(29.3%). The frequency of abnormal karyotypes was 3.1%(90/2942). Down syndrome(trisomy 21) and inversion of chromosome were found at 0.8%(24/2942) and 1.0%(30/2942). The incidence of abnormal karyotype according to indication had statistical significance in family history and abnormal ultrasonographic findings.(p<0.001) CONCLUSIONS: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis. In addition to the maternal serum markers and maternal ages, complete family history takings and ultrasonograms should be considered in prenatal genetic counseling.
Sujets)
Femelle , Humains , Grossesse , Caryotype anormal , Répartition par âge , Amniocentèse , Marqueurs biologiques , Aberrations des chromosomes , Analyse cytogénétique , Cytogénétique , Diagnostic , Foetus , Conseil génétique , Incidence , Âge maternel , Deuxième trimestre de grossesse , Diagnostic prénatal , ÉchographieRésumé
PURPOSE: HLA (human leukocyte antigen)-class I genes are highly polymorphic, play many roles in organ and bone marrow transplantation. HLA-B is the most polymorphic class I locus with 414 alleles. HLA-class I typing, which is based on serologic method, has been used until recently. The development of molecular biological techniques make it possible to define the genotypes of HLA genes. METHODS: Analyses of HLA-B genotyping on 1,000 UCB (Umbilical Cord Blood) samples which were considered to be HLA-B homozygote or blank were performed by ARMS-PCR (Amplification Refractory Mutation System-PCR) method and direct sequencing. RESULTS: We could identify HLA-B*5001 which was known to be absent in Koreans. CONCLUSION: It is strongly suggested that HLA-B homozygote should be confirmed to the DNA level especially in cases of donor selection for the unrelated bone marrow transplantation.