Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis / 대한산부인과학회잡지

OBJECTIVES: The objective of this study is to analyze 1,068 cases of prenatal genetic amniocentesis and to compare the results with reported studies. METHOD: We analyzed 1,068 cases of midtrimester prenatal genetic amniocenteses from September 1994 to February 1999, and investigated the fetal chromosomal abnormality, obstetric outcomes and complications by the indications of genetic amniocentesis and prophylactic antibiotic use at the Department of Obstetrics and Gynecology, Ajou University School of Medicine. RESULTS: Abnormal maternal serum markers were the most common indication of amniocentesis (57.7%) and the most common age distribution was 25-29 years (39.2%). One case of early amniocentesis (14 gestational weeks) was performed. The overall incidence of chromosomal aberration was 5.2% (56/1,068), of which there were 28 cases (50.0%; 28/56) of numerical aberrations and 28 cases (50.0%; 28/56) of structural aberrations. There were 50 cases (4.7%) of autosomal chromosomal aberrations and 6 cases (0.6%) of sex chromosomal aberrations. The pregnancy outcome was full-term delivery in 86.5%, preterm delivery in 7.6%, termination of pregnancy in 4.0%. There were no cases of serious complications including fetal death except for a case of self-limited amniotic fluid leakage(high leakage) in which the pregnancy was maintained. There were no significant differences between prophylactic antibiotics user group and non-user group in obstetric complications and outcomes. CONCLUSION: We could confirm that the trend in the indication of genetic amniocentesis had changed from advanced maternal age(35 year-old) toward abnormal maternal serum marker(triple test), and we recognized the importance of genetic amniocentesis according to the various antenatal screening tests of maternal serum marker, antenatal ultrasound, past history of fetal anomaly or family history of fetal chromosomal anomaly in the younger age groups(< 35 year-old) that are involved in more than half of the chromosomal anomaly. Further study will be needed to elucidate the efficacy of using prophylactic antibiotics in amniocentesis.

A Case Report of Complete Androgen Insensitivity Syndrome / 대한산부인과학회잡지

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resembles males. Mutations of the androgen receptor gene are responsible for a variable degree of impaired androgen action. The complete androgen insensitivity syndrome is characterized by normal female external appearance in spite of the normal male karyotype 46XY with testes and normal testosterone production and metabolism. This is transmitted by X-linked recessive manner. Wolffian duct does not develop. However, m llerian development does not occur in presence of antim llerian hormone activity. Recently we experienced a case of complete androgen insenditirity syndrome. We reported a case with concerned literatures.

A Case of Myasthenia Gravis in Pregnancy / 대한주산의학회잡지

Myasthenia gravis is an autoimmune disorder, caused by the presence of anti-ac- etylcholine receptor antibody or acetylcholine-receptor deficiency and involved neuro- muscular endplate. The clinical course and outcome of myasthenia gravis are variable during pregnancy. The special caution and adequate management for myasthenic mother and myasthenia gravis occurred newborn of myasthenic mother are essential for good perinatal outcomes. We experienced a case of myasthenia gravis associated with pregnancy who underwent cesarean section. We present this case with a brief review of literatures.