Screening performances of abnormal first-trimester ductus venosus blood flow and increased nuchal translucency thickness in detection of major heart defects.

OBJECTIVE: The aim of this study was to evaluate the screening performances of abnormal ductus venosus (DV) blood flow for the detection of heart defects in chromosomally normal fetuses with increased nuchal translucency (NT) thickness at 11-13 + 6 weeks' gestational in a population of singleton pregnancies. METHODS: During an 8-year period, all singleton pregnancies from 11 + 0 to 13 + 6 weeks were scanned for NT and DV blood flow assessment. Two groups of cases with abnormal NT were evaluated: NT ≥ 95th and NT ≥ 99th centile. DV waveforms were considered to be abnormal if the a-wave was reversed or absent (R/A). RESULTS: Addition of DV R/A a-wave to either NT ≥ 95th or NT ≥ 99th percentile increased specificity (p < 0.001 and p < 0.001, respectively), but not screening performances in detection of major heart defects (p = 0.73 and p = 0.91, respectively). Combination of DV R/A a-wave with NT ≥ 95th or NT ≥ 99th centile correlated with right heart defects (p = 0.024 and p = 0.013, respectively). CONCLUSIONS: In chromosomally normal fetuses, addition of abnormal DV a-wave to increased NT does not improve screening performances of NT in detection of major hearts defects in first trimester. However, there is correlation of such parameter with right heart defects and AV septal defects.

Improved diagnostic accuracy by using secondary ultrasound markers in the first-trimester screening for trisomies 21, 18 and 13 and Turner syndrome.

OBJECTIVE: The aim of this study was to examine the effectiveness of a combination of parameters at first-trimester screening for fetal aneuploidies, including ultrasound assessment of the nasal bone (NB), blood flow in the ductus venosus (DV) and flow across the tricuspid valve. METHODS: Screening for aneuploidy was carried out in 4172 singleton pregnancies between January 2006 and December 2010. Diagnostic accuracy of combined screening [inclusive of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A] and of secondary ultrasound markers [NB, tricuspid regurgitation (TR) and Doppler studies of the DV] obtained at the same visit was assessed using the receiver operating characteristic (ROC) curve analysis. RESULTS: The individual areas under the ROC curves of NT, NB, DV or TR ranged between 0.7 and 0.8, representing acceptable discrimination. The area under the ROC curve of combined first-trimester screening was 0.87, whereas the addition of secondary ultrasound markers increased the area under the curve to 0.92, which represents excellent discrimination. At a risk cutoff of 1 : 275, the detection rate for aneuploidy increased from 87% to 92% (z statistic = 1.78, P = 0.076), and the false positive rate decreased from 5.3% to 4.8%. CONCLUSION: The addition of secondary ultrasound markers (NB, DV and TR) to combined first-trimester screening showed a tendency toward improved accuracy of the screening.

Use of FMF algorithm for prediction of preeclampsia in high risk pregnancies: a single center longitudinal study.

OBJECTIVE: This study aimed to assess the accuracy of The Fetal Medicine Foundation (FMF) screening algorithm for the prediction of preeclampsia.METHODS: Out of 138 women with high-risk pregnancies prospectively followed, 30 developed preeclampsia. The clinical examination and biochemical measurements were performed at first, second, early and late third trimester.RESULTS: A lower PAPP-A levels were found in the first trimester, while sFlt/PlGF was increased in the second and early third trimester in preeclampsia (p>0.05). FMF algorithm presented higher specificity (>70%), but had a drawback of lower sensitivity (35-77%).CONCLUSION: FMF algorithm had modest performance in the prediction of preeclampsia for high-risk pregnancies.

Screening performance of congenital heart defects in first trimester using simple cardiac scan, nuchal translucency, abnormal ductus venosus blood flow and tricuspid regurgitation.

OBJECTIVE: The objective of this study was to analyze if the addition of simple cardiac scan in cases with increased nuchal translucency (NT) and/or abnormal ductus venosus (DV) blood flow, and/or tricuspid regurgitation (TCR) can improve detection of congenital heart defects (CHD) in chromosomally normal fetuses without non-cardiac defects at 11-13 + 6 gestational weeks in a population of singleton pregnancies. METHODS: During the 10 years period, all singleton pregnancies at 11-13 + 6 weeks were routinely scanned for NT, DV blood flow and TCR assessment and, if a single of these parameters was abnormal, simple cardiac scan with 2D gray scale and color and/or directional power Doppler in 4-chamber (4-CV) and 3 vessel and trachea views (3VTV) was performed. RESULTS: The sensitivity and specificity of NT ≥ 95th + DV R/A a-wave + TCR in detecting CHD were 77% and 97%, respectively, and of simple cardiac scan, 67% and 98%, respectively. Area under the curve of receiver operating characteristic curve of NT ≥ 95th + DV R/A a-wave + TCR was 0.838, and of NT ≥ 95th + DV R/A a-wave + TCR + simple cardiac scan was 0.915. CONCLUSIONS: In chromosomally normal fetuses without non-cardiac anomalies, addition of simple cardiac scan to the combined first trimester screening parameters improves detection of major CHD during first trimester.

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

INTRODUCTION: Aneuploidies are the major cause of perinatal death and early psychophysical disorders. OBJECTIVES: 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 (beta-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.

The value of sentinel lymphadenectomy in radical operative treatment of cervical cancer.

BACKGROUND/AIM: Therapy of the early stages of cervical carcinoma is surgical or radiation therapy, and for advanced stages chemoradiotherapy. Pelvic and paraaortic lymphadenectomy in early stages offers the most important prognostic factor for survival. To evaluate the method and possible influence on surgical and therapy of the disease, we performed sentinel node (SN) identification and excision during open radical hysterectomy and lymphadenectomy in stage Ib-IIa cervical carcinoma. METHODS: Fifty patients initially diagnosed with invasive squamous-cell cervical cancer stage Ib-IIa were included in the study. Only blue dye was used for sentinel node mapping. During the surgery sentinel nodes were identified and sent to histopathology separately from the other lymph nodes. After lymphadenectomy, radical hysterectomy was performed. RESULTS: The mean age of our fifty patients was 49.10 years (SD = 5.92), and the mean number of extracted lymph nodes per patient was 25.78 (SD = 5.58). The number of sentinel nodes identified per patient was between 0 and 5, mean 2.60 (SD = 1.54). There were no inframesenteric paraaortic sentinel nodes found among the patients. The dominant tumor grades were 1 and 2, 40% and 50% respectively, and 37 out of 50 patients (74%) had tumor diameter less than 2 cm. In four patients (8%) SN were not identified. In the rest of 46 patients the presence of SN was bilateral (19 patients, 38%) or unilateral (27 patients, 54%). Positive SN were found in 17 patients (34%), and negative in 29 patients (58%). Out of the whole group of patients (50), 21 of them (42%) had positive lymph nodes (LN). In the crosstab statistics, no differences were noticed in the group without SN found, in comparison with tumor grade and diameter. Finally, our test showed sensitivity of 85% (SE = 8%), specificity 100%, positive predictive value of 100%, negative predictive value of 89.6% (SE = 5.60%), and effectiveness of 93% (SE = 3.6%) regarding sentinel lymphadenectomy. CONCLUSION: This method of sentinel lymph node identification is simple, but not reliable enough to support further laparoscopic SN excision in order to make the final decision about the treatment of cervical cancer.