Incidence of Congenital Anomalies and Diagnosis of Congenital Anomalies by Antenatal Ultrasonography / 대한산부인과학회잡지

OBJECTIVE: To determine the incidence and types of congenital anomalies and evaluate the efficiency of antenatal ultrasonography for detection of congenital anomalies METHODS: This was a retrospective study, undertaken on 157 cases with congenital anomalies among 5,554 delivered newborns at Chungnam National University Hospital from Jan. 1, 1998 to Dec. 31, 2002. For statistical evaluation, Chi-square test were used. RESULTS: Among the total 5,554 newborns, the overall incidence of congenital anomalies was 2.8%. The incidence of congenital anomalies in birth weights less than 2,500 gm was 9.2% which was 7.5 times higher than that of birth weights more than 2,500 gm. The incidence of congenital anomalies in stillbirth was 19.3% which was 8.2 times higher than that of the live birth. When classified according to the type of congenital anomalies, the incidence of congenital anomalies were 26.5%, 21.0%, 19.8%, 13.0%, 7.4%, 6.2%, 3.7%, and 2.5% respectively in urogenital system, central nervous system, digestive system, cardiopulmonary system, dermatologic system, musculoskeletal system, chromosomal anomaly syndrome, and fetal tumor. Among 157 cases of congenital anomaly babies, anomaly babies were detected antenatally by ultrasonographic examination in 122 cases, and then the rate of antenatal ultrasonographic detection was 77.7%. CONCLUSION: The overall incidence of congenital anomalies was 2.8%. The most common congenital anomalies were urogenital anomalies. The rate of antenatal ultrasonographic detection for congenital anomalies was 77.7%.

Clinical and Cytogenetic Analysis of Midtrimester Amniocentesis / 대한산부인과학회잡지

OBJECTIVE: To analyze the indications, clinical features, cytogenetic results and complications of amniocentesis and to determine the efficacy of antenatal genetic amniocentesis. METHODS: We analyzed retrospectively maternal age, gestational age, indications, transplacental puncture, frequency, discoloration of amniotic fluid, karyotype and complications in 325 cases of prenatal genetic amniocentesis performed at Chungnam National University Hospital from January 2000 to December 2002. RESULTS: The most common age group was from 30 to 34 (31.4%) and mean age was 32.7 years old. 85.3% of cases were performed at 16th-20th gestational weeks. Abnormal maternal serum markers were the most common indication of amniocentesis (56.0%) and the second most common indication was maternal age over 35 (33.2%). Abnormal karyotypes were found in 12 cases (3.6%) and normal variants were 21 cases (6.5%). Numerical aberration were 9 cases (2.7%) and structural aberration were 3 cases (0.3%). Among the autosomal aberrations, Down syndromes were 5 cases and Edward syndrome was 1 case. Among the sex chromosomal aberrations, 47,XXX were 2 cases and Turner syndrome was 1 case. As the increasing maternal age, the incidence of abnormal karyotype was increased. Procedure-related complications occurred in 11.7% of cases and fetal loss rate was 7.4%. No significant associations were found between procedure-related complications and maternal age, gestational age, transplacental puncture, frequency, discoloration of amniotic fluid, and antibiotic treatment. CONCLUSION: Amniocentesis is useful for prenatal genetic diagnosis in pregnancies with increasing risk of chromosome aberrations, such as advanced maternal age, abnormal maternal serum markers or abnormal US findings. Further studies are necessary to identify risk factors of complications after invasive procedure.