ABSTRACT
OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.
Subject(s)
Female , Humans , Alleles , Blotting, Southern , DNA , Fragile X Syndrome , Intellectual Disability , Korea , Polymerase Chain Reaction , Schools, MedicalABSTRACT
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.
Subject(s)
Female , Humans , Pregnancy , Abnormal Karyotype , Amniocentesis , Amniotic Fluid , Chromosome Aberrations , Cytogenetics , Incidence , Maternal Age , Pregnancy Trimester, Second , Schools, Medical , UltrasonographyABSTRACT
OBJECTIVE: The aim of this study was to evaluate the peripartum efficiency of amnioinfusion in oligohydramnios without preterm premature rupture of membrane. METHODS: 73 singleton pregnant women with oligohydramnios were enrolled in this study. Women with preterm premature rupture of membrane were excluded. 21 women were treated with transabdominal amnioinfusion 31 times and 52 women were closely observed without amnioinfusion. Mean amniotic fluid index, mean gestational age, mean maternal age and the parity at the time of diagnosis was not statistically different in both groups. RESULTS: Mean amounts of infused artificial amniotic fluid was 536ml (200-700), the mean time consumed was 61(+/-39.2)min. After infusion, mean amniotic fluid index was increased significantly from 4.2(+/-1.6) to 10.0(+/-2.9). But we found no statistically significant differences in pregnancy outcomes. The outcomes are as follows 1)Mean gestational age at birth was 36.3(+/-3.5) weeks in amnioinfusion group and 37.2(+/-2.9) weeks in control group. 2) Mean birth weight was 2.54(+/-0.9)kg versus 2.51(+/-0.8)kg. 3) The proportions of poor Apgar score at 1 minute and 5 minute were not significantly different. 4) Cesarean section rate was 0.79 versus 0.65. 5.There were two still births in both groups. CONCLUSION: Transabdominal amnioinfusion in oligohydramnios has little effects in improving longterm pregnancy outcomes.