Search for: [Abstract = \-crown\-rump length in subgroups of euploidy and aneuploidy\;\-frequency of primary and secondary markers of aneuploidy including cardiovascular ones \(nuchal translucency, nasal ossification, tricuspid flow, DV flow, number of umbilical arteries\) in subgroups of euploidy and aneuploidy\;\-coincidences of primary and secondary ultrasound markers of aneuploidy\;\-fetal heart rate in subgroups of euploidy and aneuploidy\;\-frequency of extracardiac and cardiac defects in subgroups of euploidy and aneuploidy\;\-sensitivity and specificity of tricuspid regurgitation \(TR\) and abnormal DV flow for detecting major aneuploidy and CHDs in euploidy.In the study 3 concerning first\-trimester screening for CHD descriptive statistics was applied. Next sensitivity, specificity, positive and negative predictive values and diagnostic accuracy of screening methods based on four\-chamber view and three\-vessel and trachea view in color mapping were calculated. Basing on obtained results, patterns of the most common ultrasound pictures characteristic for particular CHDs were elaborated. ResultsTR was confirmed in 6.38% cases of euploidy. TR in aneuploidy was found 44%. The highest prevalence of TR was observed in fetuses with trisomy 18 \(63.6%\), next with trisomy 21 \(44.4%\), trisomy 13 \(42.9%\) and Turner syndrome \(22.2%\). All aneuploidies presenting TR showed additional markers of aneuploidy. Absence of DV \(noDV\) was depicted in 0.47% cases of euploidy. Reverse a\-wave in DV flow \(revDV\) was observed in 2.46% of euploid fetuses. Fetuses with chromosomal aberrations showed noDV in 5.8% and revDV in 35.7%. noDV in aneuploidy was the most common in Turner syndrome \(37.5%\), next in trisomy 13 \(7.14%\), and trisomy 21 \(1.19%\). noDV profile was not observed in cases of trisomy 18. revDV in aneuploidy was the most common in trisomy 18 \(47.8%\), trisomy 13 \(42.8%\), trisomy 21 \(33.3%\) and Turner syndrome \(25%\). Mean NT values differed depending on the karyotype result between cases presenting various patterns of DV flow.Sensitivity of late first trimester four\-chamber view \(4CV\) in color mapping for detecting CHD was 47,71% with specificity 100%. On the other hand sensitivity of three\-vessel and trachea view \(3VTV\) reached 71,43% with specificity 100%. The most accurate results was obtained by applying combination of these two views –sensitivity of 88,57% and specificity of 100%. To compare NT above 3.5mm showed sensitivity of 37,14% with specificity of 95,61%. Lowering of NT cut\-off to the 95th percentile caused the increase in sensitivity to 60% at the cost of lowering specificity to 89.51%. Basing on the most common ultrasound pictures of ventricular inflows 4 patterns were defined at the level of 4CV. At the level of 3VTV 6 patters were described.ConclusionsIsolated late first\-trimester tricuspid regurgitation \(TR\) is a poor screening tool for detecting aneuploidy and CHDs in euploidy. TR in combination with other ultrasound markers of aneuploidy is the strongest predictor of chromosomal aberrations. Absent DV detected]
