No abstract available.
Cordocentesis*

PURPOSE : To present our experiences in pseudomosaicism or maternal celi contamination in genetic mid-trimester amniocentesis confirmed through percuraneous umbilical blood sampling. METHODS : From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. RESULTS : We confirmed pseudomosaicsm in 12 cases (85.7%) by repeated cytohenetic evaluation, and also maternal cell contamination in 2 cases. CONCLUSIONS : Repeated cytohenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method fof the confirmation of mosaicism resulted from genetic mid-trimester amnicentesis.
Amniocentesis ; Cordocentesis ; Cytogenetics ; Fetal Blood ; Mosaicism

OBJECTIVE: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. METHODS: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. RESULTS: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. CONCLUSION: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
Aneuploidy* ; Chromosomes, Human, Pair 18 ; Cordocentesis ; Fetal Blood* ; Fluorescence* ; Gynecology ; In Situ Hybridization* ; Karyotype ; Karyotyping ; Obstetrics ; Seoul

OBJECTIVE: The role of steroid hormones in the control of human parturition has been a subject of debate. The objective of the study was to examine if changes in fetal plasma cortisol or dehydroepiandrosterone sulfate (DHEA-S) are associated with human term parturition. METHODS: Fetal plasma cortisol and DHEA-S were measured in 374 singleton pregnancies delivered at term. Umbilical cord blood was obtained from patients in the following 6 groups: 1) preterm gestations undergoing cordocentesis for clinical indications before 36 weeks of gestation (n=93), 2) women undergoing cordocentesis for clinical indications after 36 weeks of gestation (n=9), 3) elective cesarean section (C/S) at term without labor (n=140), 4) C/S at term with early labor (cervical dilatationp< or = 3 cm) (n=18), 5) C/S at term with active labor (cervical dilatation 4cm or greater) (n=26), 6) vaginal delivery at term (n=88). Corticosteroids were not administered before blood collection. RESULTS: 1) Fetal plasma cortisol remain unchanged until 36 weeks of gestation and increased thereafter to term; 2) Active labor was associated with a significant increase in fetal plasma cortisol; 3) Fetal plasma DHEA-S increased in term gestation (>36 weeks) but did not increase during active labor; 4) The cortisol/ DHEA-S ratio (stress index) increased with advancing gestation and with active labor at term. CONCLUSION: Human parturition at term is associated with an increase in fetal plasma cortisol and cortisol/DHEA-S ratio, but not DHEA-S.
Adrenal Cortex Hormones ; Cesarean Section ; Cordocentesis ; Dehydroepiandrosterone Sulfate* ; Dehydroepiandrosterone* ; Dilatation ; Female ; Fetal Blood ; Humans ; Hydrocortisone* ; Parturition* ; Plasma* ; Pregnancy*

OBJECTIVE: Fetal biophysical profile is widely used antenatal test for fetal wellbeing, but its biochemical background is not well known. The purpose of this study is to examine the relationship of fetal biophysical profile and cord blood acid base status including gas analysis using cord blood obtained by cordocentesis, by which the biochemical background of fetal biophysical profile can be understood. STUDY DESIGN: 121 pregnant women received cordocentesis for various indication, of whom the fetuses were evaluated with fetal biophysical profile just before the cordocentesis. Cord blood obtained by cordocentesis was analyzed for acid-base and gas status. The results of both tests were compared by appropriate statistical method. RESULTS: Fetal biophysical profile showed definite correlation with the results of cord blood acid-base and gas analysis (p<0.001). Fetal biophysical profile was not a sensitive study for the diagnosis of fetal acidemia, but the test could be used for the diagnosis of severe fetal acidemia. Variables of fetal biophysical profile responded to acidemia differently and there were gradual changes among the variables according to the degree of acidemia. Gestational age was important factor for the normality of nonstress test, even after adjustment of pH level. Anomaly did not affect the fetal biophysical profile and fetal biophysical profile was determined mainly by fetal metabolic status. CONCLUSION: Fetal biophysical profile score is a useful noninvasive antenatal test reflecting fetal acid base status, effective for the diagnosis of severe acidemia, probably affected by fetal gestational age, but not by fetal anomaly.
Blood Gas Analysis ; Cordocentesis* ; Diagnosis ; Female ; Fetal Blood* ; Fetus ; Gestational Age ; Humans ; Hydrogen-Ion Concentration ; Pregnant Women

OBJECTIVE: We report our experience with cordocentesis for prenatal diagnosis and therapy. The clinical effect and safety of cordocentesis were evaluated. MATERIALS AND METHODS: From June 1997 to December 2001, cordocentesis was performed on 461 fetuses at Asan Medical Center. The clinical characteristics of the patients and the results of each procedure were reviewed retrospectively. RESULTS: The mean gestational age at the time of cordocentesis was 25.0 weeks. The most common indication was rapid karyotyping (93.3%) and was followed by the risk of fetal infection (3.5%). Of 461 cordocentesis, 452 (98.0%) were done successfully at the first attempt. The procedure-related complications included transient bleeding at puncture site (0.7%), and transient fetal bradycardia (0.2%). There was no procedure-related fetal loss. The other obstetric complications were comparable with those in the general population. CONCLUSION: We conclude that cordocentesis is a useful, safe and effective procedure for fetal diagnosis and therapy.
Bradycardia ; Chungcheongnam-do ; Cordocentesis* ; Diagnosis ; Fetal Therapies ; Fetus ; Gestational Age ; Hemorrhage ; Humans ; Karyotyping ; Prenatal Diagnosis* ; Punctures ; Retrospective Studies

OBJECTIVE: This study was performed to assess the safety and efficacy of the diagnostic cordocentesis in prenatal diagnosis. METHODS: Between March 1998 and February 2002, percutaneous umblical cord blood samplings under the ultrasonographic guidance were performed in 112 patients. We reviewed the medical records of 112 patients who were performed cordocentesis. RESULTS: Gestational age ranged between 17 and 36 weeks. The mean maternal age was 29.6 years and the mean gestational age at the time of cordocentesis was 27.8 weeks. Among the patients, 83 cases (74.1%) were done with the indication of abnormal sonographic finding and followed by rapid karyotyping. Pure fetal blood was successfully obtained in 105 cases of 112 cordocentesis (93.8%). 99 cases (88.4%) were done successfully at the first attempt. Chromosomal abnormalities were found in 9 of 103 fetuses (8.7%). Abnormal chromosomal patterns were found in 8 of 70 fetuses (11.4%) with structural anomalies detected by ultrasonography. The procedure-related complication, fetal bradycardia occured in 3 cases (2.7%). CONCLUSION: We conclude that cordocentesis is a useful, relatively safe, and effective procedure for prenatal diagnosis.
Bradycardia ; Chromosome Aberrations ; Cordocentesis* ; Fetal Blood ; Fetus ; Gestational Age ; Humans ; Karyotyping ; Maternal Age ; Medical Records ; Prenatal Diagnosis ; Ultrasonography

Fetal umbilical blood was obtained by cordocentesis guided by transabdominal USG in 276 fetuses at more than 14 weeks gestation. Fetal daryotyping was carried out in 7 cases of cordocentesis-failed group by cardiocentesis (3 cases) and amniocntesis (4 cases). The 46 cases in 263 fetuses revealed abnormal karyotypes (17.5%). There were 24 cases of numerical abnormality, 14 cases of structural abnormality, 5 cases of mosaicism, and 3 miscellaneous abnormalities. In the numerical abnormalities, trisomies and sex chromosomal abnormalities were 22 and 2 case, respectively. In 22 trisomy cases, there were 16 cases of trisomy of 18 chromosome which is the most common single cytogenetic abnormality in cordocentesis. The most common associated anomalies in trisomy 18 was congenital heart anomaly, in which vetricular septal defect was the most common. Pregnancy outcome is as follows: 22 cases of termination of pregnancy, 9 cases of still-birth, 5 cases of neonatal death, three living babies and 7 cases lost to follow-up.
Abnormal Karyotype ; Chromosome Aberrations ; Cordocentesis* ; Female ; Fetus ; Heart ; Humans ; Karyotyping* ; Lost to Follow-Up ; Mosaicism ; Pregnancy ; Pregnancy Outcome ; Trisomy

PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of midtrimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. MATERIALS AND METHODS: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. RESULTS: The mean and standard deviations for FVIII and FIX activity were 45.5±30.5% and 19.9±12.2%, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. CONCLUSION: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.
Blood Coagulation Factors ; Cordocentesis ; Factor IX ; Factor VIII* ; Female ; Fetal Blood* ; Fetus* ; Gestational Age ; Hemophilia A* ; Humans ; Korea ; Molecular Biology ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Reference Values

INTRODUCTION: Down's syndrome is the most common congenital chromosomal anomalies which occurs 1 out of 700-1000 births. Until now, for prenatal diagnosis of Trisomy 21, invasive techniques such as amniocentesis, chorionic villus sampling(CVS) and cordocentesis were used, but they encompass the rare possibility of morbidity to the mother and fetus. Triple marker using maternal serum is a currently used noninvasive method, but it only shows the accuracy of 60%. Accordingly, a noninvasive method, using fetal cells from maternal blood is under extensive investigation. This study was undertaken to establish a noninvasive prenatal genetic diagnostic method of trisomy 21 using fetal nRBCs rarely present in maternal circulation. MATERIALS AND METHODS: Peripheral venous blood samples were collected from 76 women and treated by heparin. For the isolation of fetal cells, we used a triple density gradient centrifugation, and Vario-MACS and Mini-MACS using CD45 and CD71, and then, the morphological differentiation of the fetal nRBC was performed by Kleihaur-Betke stain. With GPA immunostain, nRBCs were identified by cytoplasm and GPA attatchment, and after marking the site, a FISH was performed. RESULTS: This study population included 76 patients from 8 to 41 weeks of gestation, and nRBC was separated from all cases. The morphological differentiation was achieved by K-B stain. The mean number of nRBC collected from 20 ml of maternal peripheral blood was 15. The number of nRBCs retrieved reached its peak in 12-18 gestational weeks(18.9 6.0) which decreased from 20 gestational weeks and thereafter. Fetal sex was determined by FISH analysis using probe X, Y with GPA-immunostained cells. GPA-immuno FISH analysis using probe 21 in 30 cases of advanced maternal age or positive triple markers, we confirmed 3 cases of Down's syndrome. These results were also confirmed using the CVS or amniocentesis. CONCLUSIONS: Fetal nRBCs were separated from all cases after 8 gestational weeks. Prenatal diagnosis of trisomy 21 through GPA-immuno FISH analysis of chromosome 21 using separated fetal nRBCs is an useful, innovative, accurate, rapid and non-invasive diagnostic method. But for clinical use, more cases of experiments will be needed.
Amniocentesis ; Centrifugation, Density Gradient ; Chorionic Villi ; Chromosomes, Human, Pair 21 ; Cordocentesis ; Cytoplasm ; Down Syndrome* ; Female ; Fetus ; Heparin ; Humans ; In Situ Hybridization* ; Maternal Age ; Mothers ; Parturition ; Pregnancy ; Prenatal Diagnosis ; Trisomy*