No abstract available.
Genetic Counseling* ; Heart Defects, Congenital*

No abstract available.
Diagnosis*

No abstract available.
Maternal Age

Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be amplified using 15 base oligonucleotide random primer. The greatest advantage of PEP-PCR is the ability to investigate several loci simultaneously and confirm results by analysing multiple aliquots for each locus. This technique led to the development of preimplantation genetic disease diagnosis using blastomere from early embryo, sperm, polar body and oocyte. In this study, we applied PEP-PCR in 20 cases of single amniocyte and 20 cases of single chorionic villus cell for the clinical application of the prenatal and preimplantational genetic diagnosis. We analysed 7 gene loci simultaneously which are 46, 47 exons related to dystrophin gene, two VNTR (variable number tandem repeat) markers using 5'toysIII, 3'CA related to dystrophin gene and DYZ1, DYZ3, DYS14 regions on chromosome Y. In all the tests, 97.5% of PEP-PCR amplifications with single cells were successful. We obtained 38/40 (95%) accuracy in gender determination through chromosome analysis comparison. Therefore, these results have significant implications for a sperm or oocyte analysis and prenatal or preimplantational genetic diagnosis.
Blastomeres ; Chorionic Villi ; Diagnosis ; DNA ; Dystrophin* ; Embryonic Structures ; Exons ; Genome ; Oocytes ; Polar Bodies ; Spermatozoa

No abstract available.
Calcium* ; Cholera Toxin* ; Cholera* ; Cytoplasm* ; Humans* ; T-Lymphocytes*

Although severe hemolytic diseases of the newborn triggered by anti-M are very rare, anti-M alloantibodies have been known to be associated with a cause of multipie intrauterine death. Serological and hematological investigations have been reported on a woman who experienced four multiple intrauterine deaths due to anti-M. The mothers blood type was of group A, NN and the husbands cells were of group B, MN. In the serological examination at 9th week's gestation of the fifth pregnancy, anti-M antibodies were identified in her serum. The antibodies comprised IgM saline agglutinin at a titer of 16 at 4 degrees C and IgG agglutinin reacted in an indirect antiglobulin technique at a titer of 4 at 37 degrees C. She underwent high-dose immunoglobulin infusion therapy on a monthly program from 3rd month gestation and a total of 6 times of intravenous immunoglobulin was given. The anti-M titer did not rise during the pregnancy. She delivered a live girl by cesarean section at the 37th week because of a failure of induction. The childs blood type was of group O, MN. The child was discharged and developed normally.
Antibodies ; Cesarean Section ; Child ; Female ; Humans ; Immunization, Passive* ; Immunoglobulin G ; Immunoglobulin M ; Immunoglobulins* ; Infant, Newborn ; Isoantibodies ; Mothers ; Pregnancy* ; Spouses

Pre-eclampsia is a major cause of maternal and perinatal mortality and morbidity worldwide, but remains unclear about the underlying disease mechanisms. Pre-eclampsia is currently believed to be a two-stage disease. The first stage involves shallow cytotrophoblast invasion of maternal spiral arteriole, resulting in placental insufficiency. The hypoxic placenta release soluble factors, cytokines, and trophoblastic debris into maternal circulation, which induce systemic endothelial damage and dysfunction. This cause the second stage of the disease: maternal syndrome. Epidemiological research has consistently demonstrated a familial predisposition to pre-eclampsia. Intensive research efforts have been made to discover susceptibility genes that will inform our understanding of the pathophysiology of pre-eclampsia and that may provide direction for therapeutic or preventative strategies. In this review, we summarize the current understanding of the role of genetic factors in the pathophysiology of pre-eclampsia and explain the molecular approach to search for genetic clues in pre-eclampsia.
Arterioles ; Cytokines ; Perinatal Mortality ; Placenta ; Placental Insufficiency ; Pre-Eclampsia ; Trophoblasts

OBJECTIVE: Trichomonas vaginalis is the common cause of sexually transmitted diseases. The present study was performed to find the possibility of other transmission mode of T. vaginalis than sexual transmission. METHODS: Survivals of trophozoites suspended in various environmental conditions were measured by haemocytometer after trypan blue staining. Also, drying time of vaginal secretion exposed at different temperatures such as 4 degrees C, 26 degrees C, 30 degrees C were observed. RESULTS: The survival rates of T. vaginalis decreased as the temperatures of tap water increased. The survival rates of trophozoites were less than 10% at 30 min-exposure at 4d degrees C or 15 min-exposure at 26 degrees C water. Hot water above 45 degrees C killed trichomonads in 5 minutes or so. T. vaginalis soaked in water from swimming pool and in cleaning solution deceased in about 5 minutes. When trophozoites were put into urines of six healthy person, the survival rates of T. vaginalis showed less than 10% after 24 hr exposure except KT4. The survival rates of trichomonads were changed according to individual urine on examined day, and isolate of T. vaginalis. The vaginal secretion was put on slide glass and leave alone until complete drying in 4degrees C refrigerator, 26 degrees C and 30 degrees C incubator. For drying of vaginal secretion, it took 70 minutes, 44 minutes and 26 minutes in 4 degrees C refrigerator, 26 degrees C and 30 degrees C incubators, respectively. The survival of trichomonads showed no change until complete dryness of vaginal secretion. T. vaginalis immersed in tap water for 5 minutes, was divided into two or many fragments. Some trichomonads were partially or completely destructed. CONCLUSION: From above results, it is supposed that transmission of T. vaginalis by contaminated fomites such as toilet stool, toilet seats is possible although this type of transmission may not occur frequently.
Fomites ; Glass ; Humans ; Incubators ; Sexually Transmitted Diseases ; Survival Rate ; Swimming Pools ; Trichomonas vaginalis* ; Trichomonas* ; Trophozoites ; Trypan Blue ; Water

We sought to determine whether early amniocentesis is a safe and acceptable method of genetic evaluation in early pregnancy. During the 20-month period from February 1994 to September 1995, 80 consecutive early amniocentesis were performed transabdominally at 12(+3)-14(+6) weeks of gestation and 305 consecutive mid-second-trimester transabdominal amniocenteses were performed at 16(+0)-18(+0) weeks of gestation. All amniotic fluid samples were cultured using flask method. There were no significant differences between the early and mid-second-trimester amniocenteses in failed sampling, ambiguous results, pregnancy loss within 4 weeks after the procedure, pregnancy loss from 4 weeks after procedure to 28 weeks of gestation, preterm birth, and perinatal death. We may conclude that early amniocentesis is a safe and acceptable method for prenatal diagnosis.
Amniocentesis* ; Amniotic Fluid ; Female ; Pregnancy ; Premature Birth ; Prenatal Diagnosis

Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.
Abortion, Spontaneous ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics* ; Diagnosis* ; Family Characteristics* ; Female ; Fetus ; Fluorescence ; Humans ; In Situ Hybridization ; Incidence ; Infertility ; Karyotype ; Male ; Monosomy ; Pregnancy ; Prenatal Diagnosis ; Prevalence* ; Translocation, Genetic* ; Trisomy