[Study on several ultrasound markers combined maternal serum biochemical markers to screen fetal chromosomal aneuploidy at 11 to 13(+)6 weeks of gestation].

OBJECTIVE: To evaluate the efficiency of combined screening for chromosomal abnormalities in the first trimester and the ultrasound characteristics of these fetuses. METHODS: Retrospective study for 5000 singleton pregnancies by combined screening of trisomies 21, 18, 13 and Turner syndrome.Risk algorithms were developed for calculation of patient-specific risks for each of the three trisomies based on maternal age, fetal nuchal translucency, free ß human chorionic gonadotropin and serum pregnancy associated plasma protein A at 11 to 13(+6) weeks of pregnant. The value of nuchal translucency (NT) and ß-hCG and pregnancy-associated plasma protein A (PAPP-A) level were inputted computer, and calculate the risk value ( ≥ 1: 270) by automatic analysis software. Two hundred and four cases with high risk were performed transabdominal chorionic villus biopsy to detect the fetal chromosomal karyotypes. Meanwhile, other ultrasonic characteristics of fetal were elevated. RESULTS: (1) Five thousand cases of pregnant women were detected, including 4983 normal cases, 62 cases were induced labor for a variety of reasons in the second trimester, including 40 cases with normal karyotype but with congenital heart disease, 17 cases of chromosome abnormalities (9 cases trisomy 21, 2 cases trisomy 18, 1 cases trisomy 13, 4 cases 45X), 2 cases spina bifida, 2 cases digestive tract obstruction, 1 cases giant bladder.One case with low risk of fetal chromosomal abnormalities in combined screening, but high risk of age (maternal age were over 40 years old), it was 21 trisomy syndrome after the prenatal diagnosis.(2) Five cases of nasal bone loss in 9 cases of trisomy 21 (5/9), 5 cases with three tricuspid regurgitation (5/9), 4 cases of venous ductus a wave flow reverse (4/9), 3 cases of fetal nasal bone loss accompanied by tricuspid regurgitation and venous ductus a wave flow reverse (3/9).One case of nasal bone loss in 2 cases of trisomy 18, 2 cases were tricuspid regurgitation and venous ductus a wave flow reverse. Two cases in 4 cases of 45X had venous ductus a wave flow reverse. There were 8 cases (0.16%) nasal bone absence in 4983 cases of normal karyotype fetus, 48 cases (0.96%) of tricuspid regurgitation and 44 cases (0.88%) of venous ductus a wave flow reverse. Thirty-two cases in 40 cases (80%) of fetal congenital heart disease were tricuspid regurgitation, 30 cases of venous ductus a wave flow reverse (75%).Eight cases of nasal bone absence normal karyotype fetus were found the nasal bone at 20 weeks gestation. CONCLUSION: Combination screening of nuchal translucency with serum markers in the first trimester were high detection rate and low false positive rate; a wave reversion and fetal nasal bone absence accompanied by tricuspid regurgitation can improve the detection rate of abnormal karyotype; abnormalities ultrasound marker may be associated with fetal congenital heart disease at 11-13(+6) weeks of pregnancy.

[Methylation status of FHIT gene in plasma and expression of FHIT gene in cancer tissue of cervical cancer patients].

OBJECTIVE: To explore the methylation status of 5' CpG island of fragile histidine triad (FHIT) gene in plasma and the expression of FHIT protein in cancer tissue of cervical cancer patients. METHODS: Methylation-specific PCR (MS-PCR) was employed to examine methylation of FHIT gene in 151 plasma samples before treatment. The immunohistochemistry was used to the expression of FHIT protein in cancer tissues. RESULTS: CpG island methylation of FHIT was detected in 31.13% of plasma samples. The expression of FHIT protein was decreased or discarded in 59.60% of cervical cancer tissues. Among them 47.78% was included in methylation positive samples. CONCLUSION: CpG island methylation of FHIT gene in plasma plays an important role on cervical cancer, which results in decreased expression of FHIT protein. It can be used to diagnose and evaluate the effect of treatment to cervical cancers.

[Methylation status of the 5' CpG islands in FHIT gene in the plasma and tissues of cervical cancer patients].

To evaluate the methylation status of the 5' CpG islands in FHIT gene using plasma and tissue samples from cervical cancer patients and find a novel marker for non-invasive diagnosis of cervical cancer, methylation-specific PCR (MSP) was employed to examine CpG island methylation in FHIT gene in 151 pretreatment plasma samples and 30 tumor tissue samples obtained from cervical cancer patients. MSP product was cloned and sequenced directly. CpG island methylation of FHIT was detected in 31.13% of the plasma samples, and in 53.33% of the tissue samples. The total concordant rate of methylation status between plasma and tissue samples in FHIT gene was 80.00%. We found a strong positive correlation between FHIT methylation in the plasma and the clinical stage and histological grade of the tumor. The data showed that CpG island methylation of the FHIT gene is prevalent in the plasma and tissue samples from cervical cancer patients. FHIT detection may be used as a non-invasive marker for diagnosis of cervical cancer and prognostic treatment evaluation.

[Detection of fetal SRY gene in maternal plasma by real-time fluorescence quantitative PCR].

OBJECTIVE: To isolate fetal DNA from maternal plasma and examine its fetal origin. METHODS: Fetal DNA in maternal plasma was isolated from 150 samples in the first trimester and mid-trimester of pregnancy, respectively. Real-time fluorescence quantitative polymerase chain reaction PCR (FQ-PCR) was used to determine sex-determining region Y (SRY) gene on Y chromosome. RESULTS: Eighty-two women in the first trimester and 90 women in the mid-trimester carried male fetuses,70 and 90 samples of them were positive, respectively. The mean concentrations were (58.82+/-20.90) copies/ml and (152.08+/-62.61) copies/ml. The results of FQ-PCR were negative in the women who carried female fetuses. CONCLUSION: The results show that fetal SRY gene can be found at a time as early as 42 days of gestation in maternal plasma by the use of FQ-PCR. The number of fetal DNA increases with gestational age. The real-time FQ-PCR is of great value in the non-invasive prenatal diagnosis.