[Show abstract][Hide abstract] ABSTRACT: Aneuploidies are the major cause of perinatal death and early psychophysical disorders.
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.
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.
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).
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.
Full-text · Article · Sep 2012 · Srpski arhiv za celokupno lekarstvo
[Show abstract][Hide abstract] ABSTRACT: 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.
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.
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%.
The addition of secondary ultrasound markers (NB, DV and TR) to combined first-trimester screening showed a tendency toward improved accuracy of the screening.
No preview · Article · Jul 2012 · Prenatal Diagnosis
[Show abstract][Hide abstract] ABSTRACT: Twin reversed arterial perfusion syndrome (TRAP) or acardiac anomaly presents a rare and severe complication affecting monochorionic multiple pregnancies occurring in 1 per 35,000 pregnancies or 1 per 100 of monozygotic twins. We report four cases of multiple pregnancies with TRAP diagnosed over the last 2 years, which were under check-up and treatment during the entire pregnancy course finalized by delivery.
In two cases pregnancies were trigeminal, and other two geminal, with acardia of one foetus, by anceps type in three and acephalus in one. Expectant management was initially done in all cases. The relation of acardiac and donor abdominal circumference was below 50% and negative signs of the donor's cardiac failure were detected in two cases, so that expectative management was continued until delivery. Due to obstetric indications, a cesarean section was performed on the 33rd and 34th gestational week, and healthy newborns were delivered. Another two acardiac twins had abdominal circumference ratio between the acardiac fetus and the donor of over 50%, and signs of congestive heart failure in the donor, which indicated invasive therapeutic procedure with absolute alcohol chemisclerosis; it was done by alcohol injection into the acardiac abdominal aorta which interrupted the retrograde blood-flow into the acardiac umbilicus. In the first case a successful intervention was performed at 29th gestational week, but after 12 hours distress signs were registered. The delivery was finalized by a cesarean section, and a live donor was delivered. In the second case the intervention was successfully done at the 20th gestational week, and after 96 hours from the intervention lethal ending of the donor was registered.
Bearing in mind that the occurrence of TRAP is rare, it is necessary to sum-up experiences from a larger number of centres to determine efficient therapeutic procedure.
Full-text · Article · Mar 2011 · Srpski arhiv za celokupno lekarstvo