scholarly journals Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV — the assessment of efficacy

2017 ◽  
Vol 88 (9) ◽  
pp. 481-485 ◽  
Author(s):  
Bartosz Czuba ◽  
Dariusz Zarotyński ◽  
Mariusz Dubiel ◽  
Dariusz Borowski ◽  
Piotr Węgrzyn ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Qualitative Assessment ◽  
Nuchal Translucency Measurement

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

scholarly journals Screening for aneuploidies by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-13+6 gestational weeks

2012 ◽  
Vol 140 (9-10) ◽  
pp. 606-611 ◽  
Author(s):  
Natasa Karadzov-Orlic ◽  
Amira Egic ◽  
Dejan Filimonovic ◽  
Maja Marinkovic ◽  
Barbara Damnjanovic-Pazin ◽  
...  
Keyword(s):  
False Positive ◽  
Trisomy 21 ◽  
Maternal Age ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Serum Free ◽  
Positive Rate

Introduction. Aneuploidies are the major cause of perinatal death and early psychophysical disorders. Objective. In this study, we analyzed detection and false-positive rates of screening for aneuploidies in the first trimester by the combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin (?-hCG), and pregnancy-associated plasma protein-A (PAPP-A) at 11-13+6 weeks of gestation, using the appropriate software developed by the Fetal Medicine Foundation. Methods. Our screening study for aneuploidies analyzed 4172 singleton pregnancies from January 2006 to December 2010. The sensitivities and false-positive rates using the combined aneuploidies determination for the risk cut-off of 1:275 were evaluated. Results. In the trisomy 21 pregnancies, the fetal NT was higher than 95th centile, in 72.8%, serum free b-hCG concentration it was above the 95th centile in 55% and serum PAPP-A was below the 5th centile in 47% of the cases. In the trisomy 18 and 13, the fetal NT was above 95th centile in 66.6% and 44.4% of the cases, respectively. The serum free b-hCG concentration was above the 95th centile in 0 and 10%, but serum PAPP-A was below 5th centile in 80.9% and 88.8% of pregnancies. In the trisomy 21 pregnancies the median free beta-hCG was 2.3 MoM and the median PAPP-A was 0.45 MoM. Chromosomal abnormalities were detected in 169 fetuses: trisomy 21 (97), Turner syndrome (19), trisomy 18 (28), trisomy 13 (11) and others (14). Detection rate of combined screening for aneuploides were 86.0% with false positive rate of 5.3% (mean age 33?4.9 years, >35 years in 35% of pregnancies). Conclusion. Our study suggests that the strategy of first-trimester combined screening of biochemical values and ultrasonographic parameters at 12 gestational weeks identifies higher percentage of aneuploidies with a lower false-positive rate than a single parameter strategy.

scholarly journals P10.03: First trimester screening of trisomy 21 by nuchal translucency measurement

2004 ◽  
Vol 24 (3) ◽  
pp. 321-321
Author(s):  
R. Has ◽  
I. Kalelioglu ◽  
H. Ermis ◽  
L. Ibrahimoglu ◽  
A. Yuksel ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Nuchal Translucency Measurement

First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment

2017 ◽  
Vol 37 (7) ◽  
pp. 680-685 ◽  
Author(s):  
Philipp Wagner ◽  
Jiri Sonek ◽  
Jessika Klein ◽  
Markus Hoopmann ◽  
Harald Abele ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
First Trimester Ultrasound
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