Cytogenetic and Clinical Analysis in 3,537 Cases of Midtrimester Amniocentesis / 대한주산의학회잡지

OBJECTIVE: To analyze the incidence of chromosomal abnormalities according to age and indications in midtrimester amniocentesis performed for prenatal genetic diagnosis. METHODS: We retrospectively analyzed the results of 3,537 cases of midtrimester prenatal genetic amniocentesis which were performed from 1994 to June 2006 in the cytogenetic laboratory at Pusan National University Hospital. RESULTS: Of the 3,537 midtrimester amniocentesis cases, the most common maternal age group was 25~29 years old (32.8%), followed by 30-34 years old (32.1%) and 35~39 years old (24.3%). The indications for amniocentesis were abnormal triple test (42.6%), advanced maternal age (31.8%), family history of chromosomal abnormality (7.0%), in the respective order. The overall incidence of chromosomal abnormalities was 5.0%, of which numerical abnormalities and structural abnormalities were 2.4% and 2.6%, respectively. Chromosomal abnormalities were most frequently found in the maternal age over 45 (16.7%), followed by 40~44 years old (6.3%) and 25~29 years old (5.6%). According to the indications of amniocentesis, chromosomal abnormalities were found in patients with habitual abortion (21.2%), previous history of chromosomal abnormality (14.3%), abnormal finding on ultrasonography (11.5%) and advanced maternal age (5.7%), in the respective order. CONCLUSION: In this study, in addition to although abnormal triple test and advanced maternal age as important indications of midtrimester amniocentesis for prenatal diagnosis, other indications such as habitual abortion, previous history of chromosomal abnormality and abnormal finding on ultrasonography should be considered important as indications of midtrimester amniocentesis.

Clinical and cytogenetic analysis of midtrimester amniocentesis / 대한산부인과학회지

OBJECTIVE: To analyze clinical data based on prenatal genetic amniocentesis. METHODS: We analyzed retrospectively maternal age, gestational age, indications, cytogenetic results and complications, based on a total of 496 cases of midtrimester prenatal genetic amniocentesis performed at Sungkyunkwan University School of Medicine, Kangbuk Samsung hospital from March 2000 to May 2005. RESULTS: The most common age of total subjects was between 35-39 years (37.1%). The indications of amniocentesis were abnormal maternal serum marker (39.72%), advanced maternal age (35.89%), abnormal ultrasonographic finding (5.04%), combined old age and abnormal maternal serum marker (4.23%), in order. Since 2000, the number of amniocentesis due to abnormal ultrasonographic finding was increased. The overall incidence of chromosomal abnormalities were 6.05% (30/496). There was no significant difference between maternal age and abnormal fetal karyotype. According to indications, there was 7.11% (14/197) of chromosomal abnormalities in abnormal maternal serum screening group, 1.69% (3/178) in advanced maternal age group and 22.22% (6/27) in abnormal ultrasonographic finding group. CONCLUSION: Abnormal maternal serum marker and advanced maternal age were the most common indication. There were frequent chromosomal abnormalities in combined old age and abnormal maternal serum marker group and abnormal ultrasonographic finding group.

Cytogenetic Analysis in 3,503 Cases of Midtrimester Amniocentesis: CUMC Experience (II) / 대한산부인과학회잡지

OBJECTIVE: To analyze chromosomal abnormalities according to patient's age and indications of patients in midtrimester amniocentesis for prenatal genetic diagnosis. METHODS: We retrospectively analyzed 3,503 cases of midtrimester prenatal genetic amniocentesis cases which were done in the cytogenetic laboratory at Kangnam St. Mary's Hospital, Catholic University Medical College. RESULTS: In 3,503 cases, the most common maternal and gestational age distributions were 35 to 39 years old and 17 to 17 week 6 days (32.2% and 21.5%, respectively). Abnormal maternal serum markers was the most common indication for amniocentesis (46.4%), and followed by advanced maternal age (40.3%) and abnormal ultrasonographic findings (3.2%). The overall incidence of chromosomal abnormalities was 180 cases (5.1%), of which numerical abnormalities and structural abnormalities were 78 cases (2.2%) and 102 cases (2.9%), respectively. Among the autosomal abnormalities, Down syndrome was most common (33 cases, 0.9%), and followed by Edward syndrome (17 cases, 0.5%). Among the sex chromosomal abnormalities, 45,X was the most common (6 cases, 0.2%). Chromosomal abnormalities were most frequently noted in the maternal age 18-19 years old (14.3%), 40 to 44 years old (7.0%), 25 to 29 years old (6.1%), 30 to 34 years old (5.2%), and followed by 20 to 24 years old (4.1%). On the other hand, chromosomal abnormalities were most frequently noted in abnormal ultrasonographic findings (12.4%), previous history of aneuploidy (8.3%), and followed by family history of aneuploidy (7.0%). CONCLUSION: This study suggested that although advanced maternal age is still important indication in midtrimester amniocentesis for prenatal diagnosis, abnormal maternal serum markers and ultrasonographic findings might be also important as indications. Therefore, they should be considered in prenatal genetic counseling.

Clinical Analysis of 501 Cases of Mid-trimester Genetic Amniocentesis / 대한산부인과학회잡지

OBJECTIVE: To analyze the change of indications and chromosomal abnormalities according to pateint's age and indications in midtrimester genetic amniocentesis. METHODS: This study reviewed 501 prenatal genetic amniocentesis cases from June 1995 to April 2004 which were done at Presbyterian Medical Center. We analized the changes of the indication, age distribution and chromosomal results according to maternal age and indications of amniocentesis. RESULTS: In 501 cases, the most common maternal and gestational age distributions were 30-34 years old and 17 weeks (32.54% and 25.98%, respectively). Abnormal maternal serum markers were the most common indications for amniocentesis (46.9%), and followed by old age (24.96%), combined old age and abnormal maternal serum screening (14.38%), ultrasonographic abnormality (4.60%). The overall incidence of chromosomal abnormalities were 3.79% (19 cases), of which numerical abnormalities and structural abnormalities were 1.79% (9 cases) and 2.0% (10 cases), respectively. In autosomal disorders, Down syndrome 4 cases, translocation 3 cases, mosaicism 2 cases, deletion 1case were diagnosed. In sex chromosomal disorders, Turner syndrome 1 case and mosaicism 2 cases (Turner syndrome 1 case, Triple X chromosome 1 case) were diagnosed. No statistic significance was found among different age groups. Those who had ultrasonographic abnormalities were found to have correlation with chromosomal abnormalities than other indications. CONCLUSION: Among the several indications for prenatal cytogenetic diagnosis, ultrasonographic abnormalities and abnormal maternal serum markers might be important indications. Especially, ultrasonographic abnormalities could be the most predictive markers for abnormal fetal karyotypes.

A Clinical Study of Midtrimester Amniocentesis / 대한주산의학회잡지

OBJECTIVE: The objective of this study was to analyze the distributions of maternal age, the indications, cytogenetic results and the safety of 334 cases of midtrimester amniocentesis. METHODS: We reviewed retrospectively 334 cases of midtrimester genetic aminiocentesis which were performed in Pusanpaik Hospital, Inje University from February 1996 to January 2003. The distributions of maternal and gestational age, the indications, chromosomal results, the correlation between age and results of chromosomal analysis, the correlation between the indications and results of chromosomal analysis, and the risks and complications of the procedure were analyzed. RESULTS: The most common indication for amniocentesis was abnormal results of maternal serum screenings (46.4%) and which was followed by advanced maternal age (>or=35) (40.1%), previous history of fetal congenital or chromosomal abnomalies (6.3%), abnormal ultrasonographic findings (3.9%). The overall incidence of chromosomal aberration was 2.4% (8 cases) and which was composed of 0.9% (3 cases) of numerical aberrations and 1.2% (4 cases) of structural aberration and 0.3% (1 case) of both numerical and structural aberration. Although there was no statistical significance, the chromosomal aberrations were more commonly detected in the patients aged before 35 years old than in the patients aged above 35 years old (3.5% vs 0.8%) (P>0.05). The incidence of chromosomal aberrations according to indications had no statistical significance (P>0.05). There were three cases (0.9%) of complications, one case of pregnancy loss (0.3%) and 2 other procedure-related complications (1 case of amniotic fluid leakage and 1 case of vaginal bleeding). CONCLUSION: Midtrimester amniocentesis is relatively effective and safe invasive diagnostic procedure for prenatal cytogenetic studies. Although advanced old age (>or=35) is still important indication in midtrimester amniocentesis, abnormal results of maternal serum marker, ultrasonographic findings, and other abnormal conditions might be important indications because of many cases of chromosomal aberrations detected in younger age.

Cytogenetic Aberration Analysis of Midtrimester Amniotic Fluid / 대한산부인과학회잡지

OBJECTIVE: To analyze cytogenetic results of prenatal genetic amniocentesis. METHODS: From January 1997 to December 2000, We analyzed 1,390 cases of midtrimester amniocentesis which were done at Gil medical center of Gachon medical school according to its indications and maternal age. RESULTS: Chromosomal aberrations were found in 88 cases (6.3%). Of all our chromosomal aberrations, 29 cases (2.1%) of normal variants and 59 cases (4.2%) of abnormal karyotypes were found. 37 cases of autosomal numerical abnormal karyotypes and 7 cases of sex chromosomal abnormal karyotypes were diagnosed. In abnormal karyotype group, the incidence was high after 40 years of maternal age and in abnormal ultrasound findings, but no such correlations were found in normal variant group. CONCLUSION: In analysis of midtrimester amniocentesis, it would be better to analyze separately abnormal karyotype group and normal variant group.

Cytogenetic Analysis in 1,565 Cases of Midtrimester Amniocentesis: CUMC Experience(I) / 대한산부인과학회잡지

OBJECTIVES: To analyze chromosomal abnormalities according to patient's age and indications of patients in midtrimester amniocentesis for prenatal genetic diagnosis. METHODS: We retrospectively analyzed 1,565 cases of midtrimester prenatal genetic amniocentesis cases which were done in the cytogenetics laboratory at Kangnam St. Hospital, Catholic University Medical College from November1997 to May 2000. RESULTS: In 1,565 cases, the most common maternal and gestational age distributions were 35 to 39 years old and 17 to 17+6 weeks (32.78% and 21.47%, respectively). Abnormal maternal serum markers were the most common indication for amniocentesis (43.64%), and followed by advanced maternal age (40.45%) and abnormal ultrasonographic findings (3.64%). The overall incidence of chromosomal abnormalities was 4.47% (70 cases), of which numerical abnormalities and structural abnormalities were 1.86% (29 cases) and 2.61% (41 cases), respectively. Among the autosomal abnormalities, Down syndrome was most common (10 cases, 0.65%), and followed by Edward syndrome (9 cases, 0.59%). Among the sex chromosomal abnormalities, both of 47,XXX and 47,XXY were most common (3 cases, 0.20%, respectively). Chromosomal abnormalities were most frequently noted in the maternal age of 25 to 29 years old (5.10%), 30 to 34 years old (4.82%), 40 to 44 years old (4.31%), and followed by 35 to 39 years old (3.90%). On the other hand, chromosomal abnormalities were most frequently noted in abnormal ultrasonographic findings (7.02%), previous history of aneuploidy (5.88%), and followed by advanced maternal age (3.95%). CONCLUSION: This study suggested that although advanced maternal age is still important indication in midtrimester amniocentesis for prenatal diagnosis, abnormal maternal serum markers and ultrasonographic findings might be also important as indications. Therefore, they should be considered in prenatal genetic counseling.