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: 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

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

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

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: Increasingly it is being recognized that genetic factors play a significant role in causing malformation. There are many available prenatal diagnostic methods including cytogenetic karyotyping using amniocentesis and cordocentesis, fluorescence in situ hybridization(FISH), and primed in situ labelling(PRINS). Our purpose was to attempt to discuss the clinical use of cytogenetic karyotyping, FISH, and PRINS. METHODS: We conducted 222 cases of cytogenetic karyotyping using amniocentesis and cordocentesis, l0 cases of FISH, and 10 cases of PRINS from January 1996 to July 1998 at Ewha Womans University Mokdong Hospital. Age distribution, chromosomal abnormalities by age group, indication, karyotype, and baby outcomes were performed. RESULTS: Overall incidence of chromosomal abnormalities was 7.7%(17cases) and chromosomal abnormalities were most frequently noted in 30-34 year old women and 35-39 year old women(2.3%, respectively). Among 222 cases, 25-29 year old women were highest(30.2%). Chromosomal abnormalities among cytogenetic karyotyping cases were Down syndrome, Edward syndrome, Patau syndrome, Deletion(8), Inversion(9), etc. The 5 cases of healthy baby among chromosomal abnormalities were delevered. Among 213 cases of karyotyping using amniocentesis, abnormal karyotyping cases were 15 cases. Among 15 cases, 8 cases were terminated and 5 cases of healthy baby were delivered. Among 9 cases of karyotyping using cordocentesis, 2 cases of chromosomal abnormalities(Edward, Down syndrome) were found and 3 cases healthy baby were delivered. Among 10 cases of FISH results, 6 case of FISH results were the same with G-banding and were different from G-banding. Among 10 cases of PRINS results, we got the PRINS results from 7 cases. CONCLUSION: It is concluded that cytogenetic karyotyping, FISH, and PRINS are very useful to detect chromosomal abnormalities.
Age Distribution ; Amniocentesis ; Chromosome Aberrations ; Cordocentesis ; Cytogenetics* ; Down Syndrome ; Female ; Fluorescence* ; Humans ; In Situ Hybridization* ; Incidence ; Karyotype ; Karyotyping* ; Prenatal Diagnosis* ; Primed In Situ Labeling

Congenital fetal goiter is a very rare pathology, is sometimes difficult to diagnose when there is no maternal history or the goiter size is moderate. We report a case of prenatally diagnosed fetal goiter in a euthyroid mother. A 28-year-old woman was referred to our clinic at 38(+2) weeks of gestation. Ultrasonographic examination revealed a fetal goiter. The maternal history and thyroid function tests, including antithyroid autoantibody tests, were unremarkable. Cesarean section was performed, and the thyroid profile of the neonate was consistent with congenital hypothyroidism. Thyroxine therapy was immediately started. Fetal thyroid function must be determined when a goiter is detected. Cordocentesis is a more reliable but riskier diagnostic tool than amniocentesis. Intra-amniotic injection of thyroxine is relatively safe and an easier management option for fetal hypothyroidism. To develop more noninvasive and safe methods for therapeutic efficacy monitoring, a large-scale study is necessary.
Adult ; Amniocentesis ; Cesarean Section ; Congenital Hypothyroidism ; Cordocentesis ; Female ; Goiter* ; Humans ; Hypothyroidism ; Infant, Newborn ; Mothers* ; Pathology ; Pregnancy ; Prenatal Diagnosis* ; Thyroid Function Tests ; Thyroid Gland ; Thyroxine