[Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester].

OBJECTIVE: To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester. METHODS: Maternal serum were collected from 2 739 pregnant women between 11 and 14 weeks gestation. Free beta human chorionic gonadotrophin(beta-hCG), pregnancy-associated plasma protein(PAPP-A) from materal serum were measured using time resolved fluorescence immunoassay(TRFIA) and fetal nuchal translucency(NT) thickness were measured using transabdominal or transvaginal ultrasound. 22 chromosomal defects were diagnosed in 22 cases using karyotyping. The levels of three markers were analyzed among 22 cases and 870 controls. RESULTS: The level of three markers were significant difference between affected and unaffected pregnancies. In affected cases, the value or level of NT and free beta-hCG were higher, while the level of PAPP-A was lower. We found that screening for chromosomal defects using a combination of NT and serum biochemistry was associated with a detection rate of 91.67% for all types of chromosomal defects, with a false-positive rate of 11.16%. CONCLUSION: A combination of nuchal translucency measurement with materal serum biochemistry markers provides an effective method of screening for chromosomal defects.

Expression of MUC1 in esophageal squamous-cell carcinoma and its relationship with prognosis of patients from Linzhou city, a high incidence area of northern China.

AIM: To further characterize the possible relationship between the molecular changes and prognosis of ESC and to elucidate the possible mechanisms involved. METHODS: 114 specimens of ESC were collected from Linzhou city, and all patients were followed up for more than 5 years after resection. Histopathological analysis and immunohistochemical staining (ABC) were employed to detect the alteration of MUC1. RESULTS: The positive immunostaining rate for MUC1 was 79 % (90/114), and the high-expression rate was 63 % (72/114). The mean survival periods (months) of those with high- and low-expression rates of MUC1 were 41 (95 % CI: 35, 47) and 52 (95 % CI: 45, 59), respectively. Patients in the low-expression group obviously survived longer than those in high-expression group, and the difference was significant (P<0.05). The expression of MUC1 protein in the esophageal carcinoma specimens with metastasis was stronger than those without metastasis, the difference was also significant (P<0.05). The stepwise multivariate analysis showed that "differentiation", "expression of MUC1" and "TNM staging" were the most important factors affecting the prognosis of esophageal carcinoma patients (P<0.05). CONCLUSION: A good correlation between the alteration of MUC1 and the regional lymph node metastasis was observed. Furthermore, high-expression of MUC1 was associated with poor prognosis for esophageal cancer patients. These results indicated that MUC1 is a promising biomarker for predicting lymph node metastasis and prognosis in esophageal cancer.