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: 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

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: 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

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*

We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both fetuses had Turner and the other had trisomy 20 mosaicism. The prognosis for Turner mosaicism and trisomy 20 mosaicism diagnosed prenatally has yet to be established. The pregnancy with 45,X/46,XX mosaicism was terminated at 23+3 weeks' gestation. Autopsy findings showed no features of Turner's syndrome. Postnatal cytogenetic analysis revealed 45,X[4]/46,XX[52] mosaicism in skin and 46,XX in the lung tissue. The other fetus had amniocytes with trisomy 20 mosaicism and fetal cord blood cells with a normal karyotype. The baby was delivered at 38+2 weeks' gestation. At birth and 3 months after birth, no apparent abnormal findings were found. These cases with chromosomal discrepancy among various fetal tissues are rare. Two cases were discussed with the review of literature.
Amniocentesis ; Amniotic Fluid ; Autopsy ; Chromosomes, Human, Pair 20 ; Cordocentesis ; Cytogenetic Analysis ; Cytogenetics ; Female ; Fetal Blood ; Fetus ; Karyotype ; Lung ; Mosaicism ; Parturition ; Pregnancy ; Prognosis ; Skin ; Trisomy ; Turner Syndrome

At present, because of enormous variety of mutations in hemophilia A, carrier detection and prenatal diagnosis by DNA analysis has been relied almost always on indirect detection using linkage analysis of DNA polymorphisms withim or near to the factor VIII gene. However, there is marked ethnic variation in the incidence of heterozygosity for a given DNA polymorphism. So it is very important to find out which DNA polymorphism pattern is useful in Korean families with hemophilia A for carrier detection and prenatal diagnosis. To identify the usefulness of DNA polymorphism in St14 VNTR locus for carrier detection and prenatal diagnosis of hemophilia A in Korean populations, we have analysed the DNA polymorphism in St14 VNTR locus in 80 Korean families with hemophilia A using polymerase chain reaction. We could identify 14 alleles in subjects studied, which ranges from 620 bp to 2830 bp. Expected heterozygosity rate, calculated from the allele frequencies, was 78.7%, and observed heterozygosity rate was 71.3% (57/80). Carrier detection was performed in 43 women from families informative with St14 VNTR : Seventeen women were diagnosed as non-carriers, 11 women as carriers. And 15 women were suspected to be carriers since they were from families of sporadic cases of hemophilia A. And prenatal diagnosis was done in 4 pregnant carrier women : noe fetus proved to be normal males, two fetuses to be normal females, and one to be a carrier. And five pregnant women, suspected to be carrier since they were from families of sporadic cases of hemophilia A, underwent prenatal diagnosis : One fetus was diagnosed as a normal mali, one as a normal female, two as possible carriers, and one as a possible affeted mali, whom the analysis of factor VIII level in fetal blood by cordocentesis revealed to be affected by hemophilia A. These data indicate that PCR-based analysis of St14 VNTR is very useful for the carrier detection and prenatal diagnosis of hemophilia A in Korea.
Alleles ; Cordocentesis ; DNA* ; Factor VIII ; Female ; Fetal Blood ; Fetus ; Gene Frequency ; Hemophilia A* ; Humans ; Incidence ; Korea ; Male ; Mali ; Minisatellite Repeats* ; Polymerase Chain Reaction* ; Pregnant Women ; Prenatal Diagnosis*