Prenatal detection of skeletal dysplasia using ultrasound and molecular diagnosis / 대한산부인과학회지

OBJECTIVE: To determine the accuracy and usefulness of prenatal ultrasonographic and molecular genetic diagnosis in detection of skeletal dysplasia. METHODS: This study was based upon data of the 17 cases of skeletal dysplasia diagnosed by prenatal ultrasound and 7 cases by molecular diagnosis performed among the 17 cases and the 2 cases who has familial skeletal dysplasia by molecular diagnosis during the first trimester at Ewha and Eulji University from March 1998 to August 2005. A final diagnosis was sought on the basis of radiographic studies, molecular testing, or both. RESULTS: The mean gestational age at diagnosis was 24.9 weeks (range, 17 to 35 weeks). Nine cases were diagnosed before 24 weeks. A final diagnosis was obtained in 16 cases (94.1%). There was 1 false-positive diagnosis. The antenatal diagnosis was correct in 14 cases (82.4%). The 8 cases were prenatally confirmed and 1 case was postpartum confirmed using molecular genetic testing and accurate antenatal diagnosis and prediction was done. We were able to rule out skeletal dysplasia through chorionic villus sampling during the first trimester in the 2 cases with the family history with skeletal dysplasia. CONCLUSION: Prenatal diagnosis of skeletal dysplasia can be a considerable diagnostic challenge. However, skeletal dysplasia is correctly diagnosed on the basis of prenatal meticulous ultrasound and antenatal prediction of lethality was highly accurate. Using prenatal molecular diagnosis, skeletal dysplasia can be diagnosed at first trimester of pregnancy and nonlethal skeletal dysplasia can be confirmed when prenatal ultrasound was nonspecific.

Association of preterm birth with IFN-gamma, IL-10, and CYP 1A1 gene in Korean women / 대한산부인과학회지

OBJECTIVE: To investigate the association between preterm birth and cytokine genes (IFN-gamma, interleukin (IL)-10) in intrauterine infection and enzyme gene (CYP1A1) in oxidative stress response. METHODS: This study involved a case-control study conducted at Ewha Womans University Hospital in Seoul, Korea. Subjects with preterm deliveries ( or =37 weeks of gestation) were selected from gravidas who had undergone prenatal examinations in the hospital and were followed until infant delivery. The weight, height, and blood samples of each participants were obtained according to standard protocols. We included subjects who gave birth to a singleton infant and had a gestational age between 24 and 42 weeks. Mutiple births, stillbirths, and congenital anomalies were excluded. Finally, 164 gravidas with preterm births and 305 normal controls with term deliveries were enrolled in the present study. RESULTS: Preterm delivery group and term delivery group had significant difference in gestational age and neonatal body weight (P0.05). CONCLUSION: In this study, IFN-gamma (874A/T), IL-10 (1082A/G), IL-10 (819C/T), IL-10 (592A/C) and CYP1A1 (T6235C), CYP1A1 (Ile462val [A/G]) genes had no significant association with preterm birth.