Comparison of Left Ventricular Stroke Volume in 2nd- and 3rd-Trimester Fetuses Measured by the Product of VTI and Aortic Annular Area With That Assessed by Simpson's Single-Plane Rule Using the STE Technique.

OBJECTIVES: The aim of the study was to compare left ventricle stroke volume in healthy, eutrophic fetuses in the 2nd and 3rd trimesters evaluated using the velocity time integral and aortic annulus area with left ventricular stroke volume measured using Simpson's single-plane rule and to determine the discrepancy equation. METHODS: The study included 354 fetuses. In each fetus, during the same examination, simultaneous assessment of stroke volume was performed by pulsed-wave Doppler using the product of the velocity time integral and aortic annulus area and by the fetalHQ® software using Simpson's single-plane rule. The Mann-Whitney U test was used to compare the "product-derived" stroke volume and stroke volume using fetalHQ® software values in the 2nd and 3rd trimesters separately. The agreement between the two methods were verified using Bland-Altman analysis. A linear regression model was used to obtain the discrepancy equation. RESULTS: In the 2nd trimester, the mean percentage difference between both the techniques showed that the stroke volume values determined using pulsed-wave Doppler were, on average, 88% higher than the stroke volume values determined using fetalHQ®. The upper limit of agreement between the compared techniques was approximately 146% and the lower limit of agreement was equal to 29.6%. In the 3rd trimester, the results indicated that the stroke volume values determined using pulsed-wave Doppler were, on average, 76% higher than the stroke volume values determined using fetalHQ®. The upper limit of agreement between the compared techniques was approximately 129% and the lower limit of agreement was 23%. Based on the results of the linear regression models, discrepancy formulas of the stroke volume values were obtained. The equations to calculate the predicted mean and standard deviations were used to compute the reference intervals for the mean, 5th and 95th centiles. CONCLUSION: The calculation of left ventricular stroke volume using pulsed Doppler has higher result in relation to stroke volume determined using Simpson's rule significantly. The aortic annulus area showed a higher correlation regarding stroke volume than the velocity time integral in both the 2nd and 3rd trimesters. Stroke volume increased with the increase in aortic annulus area, whereas the velocity time integral remained relatively constant. The retrospective analysis of the collected material enabled the determination of the discrepancy equation.

LC/MS/MS assessment of changes in placental angiotensin I metabolism in preeclampsia.

BACKGROUND: Preeclampsia (PE) is a condition characterized by high blood pressure and significant proteinuria in pregnant women. It affects about 7% pregnancies and can be cause of fetal and maternal morbidity and mortality. During pregnancy, a physiological overexpression of the Renin-Angiotensin System (RAS) components is observed, including increased plasma Ang II level. Dysregulation of RAS in placenta may contribute to preeclampsia and uterine growth retardation. The aim of the study was to evaluate the Ang I metabolism in human preeclamptic placentas and to compare to normal pregnancies condition. METHOD: Fragments of placental tissues were collected right after ceasarian section from PE and physiological pregnancies. Tissues were incubated in Krebs buffer in the presence of Ang I. Evaluation of Ang I metabolites in incubating fluid was performed by LC/MS/MS method. mRNA expression of main RAS components was measured by RT-PCR. RESULTS: Pattern of angiotensin metabolites did not differ between groups. The main products were Ang 1-7 and Ang II. Comparing to control group, more than 3-fold lower production of Ang II and Ang 1-7 in preeclampsia was observed. mRNA expressions of ACE and AT1 were significantly decreased in pre- eclamptic placentas, whereas higher expression of mRNA of ACE2 and MAS receptor were observed. CONCLUSIONS: Production of Ang 1-7 by PE placentas was significantly lower than in control group. Significantly decreased mRNA expression of ACE and AT1 receptor and lower production of Ang II in placentas of PE patients suggest that placental Ang II/ACE/AT1r pathway could be less important than Ang 1-7/ACE-2/MASr pathway in development of preeclampsia, but this requires further investigations.

Ultrasound differentiation between benign versus malignant adnexal masses in pregnant patients.

OBJECTIVES: The aim of this study was to assess the performance of the International Ovarian Tumor Analysis (IOTA) group ultrasound Simple Rules method in differentiating between benign and malignant ovarian tumors in pregnant patients. MATERIAL AND METHODS: A prospective observational study that involved pregnant patients referred to our center due to suspicions of ovarian masses between January 2015 and December 2017 was performed. The Simple Rules performance was evaluated against the histopathological results. Each of the 10 sonographic Simple Rules were computed by logistic regression to demonstrate their odds ratios in predicting malignancy. RESULTS: Ultrasound were conducted in 153 subjects, and 61 of those patients underwent surgery. By assigning masses presenting inconclusive picture as probably malignant, the Simple Rules method showed sensitivity of 91.67% and specificity of 69.39%. After exclusion of masses with inconclusive findings, the method showed sensitivity of 87.5% and specificity of 94.44%. The Simple Rules risk estimation method for the 1% risk cutoff showed sensitivity of 100% and specificity of 51.02%. For the 3% cutoff, sensitivity was 91.67% and specificity was 53.06%. And for 30 % cutoff, sensitivity was 91.67% and specificity 73.47 %. The logistic regression model showed that the M-rules increased the risk of malignancy while the B-rules decreased the risk. CONCLUSIONS: Most ovarian masses in pregnant patients may be correctly categorized as benign or malignant using Simple Rules. This protocol may facilitate the management of pregnant patients presenting with adnexal masses.

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester.

OBJECTIVES: To identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. METHODS: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. RESULTS: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the "NT+T13" algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. CONCLUSIONS: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

Subclinical cardiac performance in obese and overweight women as a potential risk factor of preeclampsia.

OBJECTIVES: Failure to increase cardiac output owing to suboptimal cardiac performance in obese women may contribute to placental hypoperfusion, and therefore subsequently to the abnormal placental development. The aim of this study was to evaluate the relationship between left ventricle (LV) function in overweight and obese pregnant women and parameters of blood flow in uterine arteries. STUDY DESIGN AND MAIN OUTCOME MEASURES: We conducted a prospective cohort study, which included consecutive 87 women with singleton pregnancy - 56 women with normal weight and 31 overweight and obese women. During pregnancy blood pressure, echocardiography and the assessment of blood flow in uterine arteries - pulsatility index (PI) and resistance index (RI) were assessed on two visits (V): V1 between 10 and 14 weeks and V2 between 25 and 30 weeks of gestation. A stepwise logistic regression analysis was performed to determine the independent predictors of upper quartile of RI and PI during V2 in the study population. RESULTS: The multivariate logistic regression analysis showed that LVCI and LV mass measured on V1 were the only independent predictors of upper quartile of RI during V2, whereas LVCI was the only independent predictor of upper quartile of PI during V2. CONCLUSIONS: Subclinical left ventricle dysfunction in obese and overweight women, present from the first trimester, may contribute to placental hypoperfusion and higher resistance in uterine arteries later during pregnancy. This may lead in some women to preeclampsia.

Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol.

AIMS: To compare the screening capability of ultrasonography in detecting trisomy 13 (T13) using a multiparameter sonographic protocol (NT+) with a classical combined screening test (CST) protocol. METHODS: The project was a prospective, multicenter study based on a nonselected mixed-risk population of women referred for a first-trimester screening examination. Each subject was offered a choice between either the gold standard, traditional combined screening test (CSG arm) or the ultrasound-based screening protocol (USG arm). General and MA-based screening performances were checked. RESULTS: The study population comprised 20,887 pregnancies: 12,933 in the CSG arm, including 27 cases of T13, and 7954 in the USG arm, including 30 cases of T13. The DR for T13 was higher in the CSG arm than in the USG arm for all tested cutoff points: 1/50 (88.5 versus 63.3%, respectively), 1/100 (88.5 versus 70%, respectively) and 1/300 (92.3 versus 83.3%, respectively). Using the ROC curves for fixed FPRs of 3 and 5%, the T13 detection rate in our study reached 90 and 93%, respectively, in the USG arm and 92 and 96%, respectively, in the CSG arm. MA influenced the T13 screening performance in the USG arm and reduced the DR in patients <31 years. Such influence was not detected in the CSG arm. CONCLUSIONS: Classic CST was more effective in detecting T13 than the ultrasound-only approach. However, the recommended cutoff of 1/50 showed unsatisfactory results for both traditional CST and the multiparameter sonographic test we proposed.

Polish Society of Gynecology and Obstetrics statement on safety measures and performance of ultrasound examinations in obstetrics and gynecology during the SARS-CoV-2 pandemic.

We present recommendations on performance and safety measures of ultrasound examinations in obstetrics and gynecology during the SARS COV-2 pandemic. The statement was prepared based on the current knowledge on the coronavirus by the Ultrasound Section of the Polish Society of Obstetrics and Gynecology. It has to be noted that the presented guidance is based on limited evidence and is primarily based on experiences published by authors from areas most affected by the virus thus far, such as China, Singapore, Hong Kong, and Italy. We realize that the pandemic situation is very dynamic. New data is published every day. Despite the imposed limitations related to the necessity of social distancing, it is crucial to remember that providing optimal care in safe conditions should remain the primary goal of healthcare providers. We plan to update the current guidelines as the situation develops.

Early fetal cardiac scan as an element of the sonographic first-trimester screening.

Early fetal cardiac scan (EFCS) is becoming an increasingly common element of the first trimester ultrasound screening carried out at 11-14 gestational weeks. It offers the first possibility to detect congenital heart defects (CHD) or, in ambiguous cases, to identify those pregnancies where a more detailed cardiac scan would be required later in pregnancy. The size of the fetal heart at the end of the first trimester and the associated relatively low image resolution make it impossible to capture all cardiac data to inform the ultimate picture. However, even at this stage, cues of anatomical and functional abnormalities can be picked up, which suggest not only a CHD, but also a likelihood of cardiovascular symptoms typical of genetic disorders. EFCS should focus on cardiac position, atrioventricular (AV) connections, AV valve function, initial assessment of ventriculo-arterial (VA) connections and the presence of red flag signs in the three vessel and trachea view (3VTV). Proper use of color Doppler mapping makes it possible to overcome the low resolution of B-mode to a certain extent. Here we present our long-term experience in EFCS.

Pulmonary artery dilatation during normal pregnancy.

BACKGROUND: During pregnancy the cardiovascular system undergoes complex alterations; however, there have been few studies concerning pulmonary artery behaviour during gestation. AIM: The aim of this study was to evaluate changes in the pulmonary artery diameter (PAD) during gestation, with respect to left ventricular (LV) load and remodelling, as well as to systemic vascular resistance (SVR). METHODS: It was a prospective cohort study, which included 69 consecutive healthy outpatient women with a singleton pregnancy. Echocardiography and ultrasonography of the uterine arteries were performed at two visits (V1 and V2) during pregnancy, and only echocardiography at one visit postpartum. RESULTS: Pulmonary artery diameter increased in all women, from 20.0 mm at V1 to 22.7 mm at V2 (p < 0.001), and it returned to the reference range postpartum (19.5 mm; p < 0.001 vs. V2). Echocardiography did not reveal any other abnormalities, including the signs of intracardiac shunt or right ventricular pressure overload. During V2, PAD positively correlated with the following echocardiographic parameters: LV end-diastolic diameter (r = 0.386; p = 0.002), LV end-systolic diameter (r = 0.345 p = 0.006), LV end-diastolic volume (r = 0.308; p = 0.016), LV mass (r = 0.459; p < 0.001), left atrial area (r = 0.334; p = 0.009), LV cardiac output (r = 0.338; p = 0.011), and aortic diameter (r = 0.369; p = 0.003). Furthermore, there was a negative linear correlation between PAD and SVR (r = -0.307; p = 0.025) and pulsatility index (r = -0.318; p = 0.012). CONCLUSIONS: Our study shows pulmonary artery dilatation in healthy pregnant women without any other abnormal echocardiographic findings. These changes in PAD are associated with volume overload and low vascular resistance, and during postpartum they usually subside.

"Y Sign" at the Level of the 3-Vessel and Trachea View: An Effective Fetal Marker of Aortic Dextroposition Anomalies in the First Trimester.

OBJECTIVES: The "Y sign" at the level of the 3-vessel and trachea view corresponds to thinning of main pulmonary artery and arterial duct and a dilated transverse aortic arch. The purpose of this study was to evaluate the Y sign for the diagnosis of aortic dextroposition anomalies at the time of the first-trimester scan and to assess the screening performance of only the Y sign, only abnormal left axis deviation (axis sign), and their combination for the diagnosis of aortic dextroposition anomalies. METHODS: A prospective evaluation of 6025 pregnant women undergoing first-trimester ultrasonography was conducted. The cardiac axis was measured in all examined patients and considered abnormal (positive axis sign) at greater than 57 °. The frequency of the Y sign and the axis sign was assessed for this population, and their screening performance for the diagnosis of aortic dextroposition anomalies was calculated. RESULTS: A total of 5775 patients fulfilled the inclusion criteria. Aortic dextroposition anomalies were diagnosed in 17 cases (tetralogy of Fallot in 8 and Fallot-like double-outlet right ventricle in 9). The Y sign was found in 18 of 5775 (0.3%) fetuses examined, of which 7 of 18 were confirmed with tetralogy of Fallot, 9 of 18 with a Fallot-like double-outlet right ventricle, and 2 of 18 with pulmonary stenosis. A positive axis sign of greater than 57 ° was found in 20 fetuses, including 4 with normal heart anatomy. The sensitivity values of the Y sign, the axis sign, and their combination were 94%, 76%, and 94%, respectively. CONCLUSIONS: Visualization of the Y sign should increase the suspicion of aortic dextroposition anomalies in the late first trimester. The screening performance of the Y sign alone and in combination with an abnormal cardiac axis was high and may aid in the early diagnosis of aortic dextroposition anomalies in the fetus.

Screening performance for callosal agenesis in prenatal life. Single center study.

OBJECTIVES: 1) To analyze screening performance of second trimester scan for ACC, 2) to evaluate the agreement between ultrasound and MRI and 3) to compare prenatal and postnatal diagnosis. METHODS: It was a prospective observational study. All patients with fetuses suspected of ACC were referred to prenatal MRI (pMRI). RESULTS: One subject was not confirmed by pMRI with the diagnosis of ACC. This case demonstrated partial ACC in neonatal MRI (nMRI). CONCLUSION: Sensitivity of second trimester scan for callosal agenesis of 73% and specificity of 99%. Prenatal MRI and US has similar amount of misdiagnoses.

Screening for trisomy 18 using traditional combined screening vs. ultrasound-based protocol in tertiary center environment.

OBJECTIVES: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. METHODS: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening. Each subject was offered a choice between either a traditional combined screening (CSG arm) or an ultrasound-based screening (USG arm). General and MA-based screening performances were measured. RESULTS: The study population comprised 10 820 pregnancies as follows: 5132 in the CSG arm, including 28 cases of T18, and 5688 in the USG arm, including 29 cases of T18. In the CSG arm, the detection rate (DR) for T18 at a false-positive rate (FPR) of 3% was 86%, whereas the DR was 100% for the USG arm. MA influenced the T18 screening performance in the CSG arm and reduced the DR in MA ranges <26 years and 31-35 years. This influence was not observed in the USG arm. CONCLUSIONS: Only, a multiparameter ultrasound-based screening method may be considered an effective alternative to combined screening for T18 screening. The technique exhibits high and stable DRs irrespective of MA.

Combined screening test for trisomy 21 - is it as efficient as we believe?

OBJECTIVES: To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies. METHODS: This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance. RESULTS: The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA. CONCLUSIONS: The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

OBJECTIVES: To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS. METHODS: This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy. RESULTS: Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p < 0.05) were found between euploidy and TS groups in terms of nuchal translucency (NT; 1.7 mm versus 8.8 mm) and fetal heart rate (FHR; 160 versus 171 beats per minute). None of the TS cases demonstrated absent markers of aneuploidy as opposed to 5133 (91.4%) cases of euploidy. NT and abnormal DV flow (aDV or revDV) were the most common markers found in combination in TS cases (n = 17; 54.8%). 27 (0.5%) cases of euploidy and 17 (54.8%) cases of TS revealed congenital heart defects. Fetal hydrops was observed in 14 cases of TS (43.8%) and in 5 of euploidy (0.1%). In backward regression model, NT > 3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively. CONCLUSIONS: First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.

Ultrasound evaluation of inferior facial angle (IFA) in a population of normal fetuses at 11-13 weeks (+6 days) gestation.

Retrognathia is a common feature of many fetal anomalies that may be diagnosed during ultrasound examination. The most common method used for the diagnosis of this condition is the inferior facial angle (IFA). The existing reference ranges for IFA have been established for the fetuses at 18- 28 weeks gestation and may be not applicable in the first trimester. The aim of the study was to document changes of IFA from 11+0 to 13+6 weeks gestation, to verify the reproducibility of IFA calculations obtained by the same examiner and to investigate the possible association between IFA values at the first and second trimester scans. Material and Methods: A prospective study was performed in 512 singleton pregnancies during the first trimester ultrasound exam. IFA was calculated by measuring the angle made by the cross-section of a line orthogonal to the forehead at the level of nasofrontal suture and the line from the tip of the mentum to the anterior border of the more protrusive lip. In 100 cases, stored images were used to calculate IFA twice by the same examiner. In a second trimester scan, IFA was measured again in 215 fetuses. Results: The median IFA value at the time of the first trimester (IFA-1) was 880 (IQR: 8.0) and decreased with crown-rump length (CRL) and biparietal diameter (BPD). A moderate negative correlation was shown between IFA-1 and CRL (r= 0.3; p<0.001) as well as between IFA-1 and BPD-1 (r= 0.176; p=0.010). An intraclass correlation coefficient (ICC) of 0.87 (95% CI: 0.81 ­ 0.91) confirmed strong intraobserver agreement between two IFA measurements. In 215 fetuses that underwent a second trimester screening, the median IFA-2 was significantly lower compared to IFA-1(215) (750; IQR: 10.0 vs.870; IQR: 8.0; p<0.001), and there was no correlation between IFA1215 and IFA-2 (r= -0.024; p=0.731). Conclusions: In the first trimester, IFA decreases with CRL and BPD. When performed by the same operator, measurement of IFA is reproducible. There is no correlation between the IFA values in the first and second trimesters.

Autosomal dominant polycystic kidney disease diagnosed in utero. Review.

Autosomal dominant polycystic kidney disease (ADPKD) is one of most common inherited renal diseases. It is estimated that very early onset ADPKD affects even 2% patients. The purpose of this article is to provide a comprehensive review of genetics, prenatal diagnosis and prognosis in very early onset autosomal dominant polycystic kidney disease.

[The role of cytologic-colposcopic diagnostics in qualification to LEEP (loop electrical excision procedure)].

Loop electrosurgical excision procedure (LEEP) is both a diagnostic and a therapeutic method in cervical intraepithelial neoplasia (CIN). The key for the therapeutic effect is accurate diagnostics, in particular precise colposcopic localisation of CIN in the cervical area. It enables localising a lesion highly suspected of neoplasmatic character, excising a sample for histopathologic examination and making a pre-therapeutical diagnosis, as well as choosing optimal way of treatment. Colposcopic examination conducted in 115 women with inapropriate cytologic exam, i.e. HGSIL, revealed CIN-suspected image in all cases. Highly positive and statistically relevant correlation between results of colposcopic examination and histologial examination of samples excised with the use of high frequency electrosurgical loop in examined group was stated. Due to its efficiency, easy implementation, great tolerance and wide acceptance the procedure is widespread.

How Effective Is First-Trimester Screening for Trisomy 21 Based on Ultrasound Only?

OBJECTIVE: To evaluate the most common first-trimester ultrasound features of fetuses with trisomy 21 (T21) and to examine the screening performance for Down syndrome (DS) using only ultrasound-based protocols. To investigate whether maternal age (MA) has an impact on the efficacy of the ultrasound-based screening methods. METHODS: In a prospective study, 6,265 patients were examined. Two ultrasound-based risk calculation protocols were applied: 'NT' (based on nuchal translucency) and 'NT+' (based on NT and secondary markers). RESULTS: A total of 5,696 patients were enrolled for analysis; 84 subjects with T21 were identified. Combinations of abnormal ultrasound markers were observed in only 1.2% of euploid fetuses compared to 71.5% of fetuses with T21. Among 17.9% of DS cases with cardiac anomaly, 14.3% comprised atrioventricular septal defects. For a false-positive rate of 3%, the detection rates of T21 were 73.8 and 91.7% for the 'NT' and 'NT+' protocols, respectively. The efficacy of both methods was affected by MA. CONCLUSIONS: Most of the fetuses with DS demonstrate a combination of ultrasound markers of aneuploidy in the first trimester. The 'NT+' protocol is efficient and provides comparable performance as a combined screening test. It is a valuable method, especially when the access to biochemical analysis is restricted.

How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?

UNLABELLED: Trisomy 18 (T18) remains the second most common aneuploidy. It is associated with multiple congenital anomalies and causes intrauterine fetal demise in the most severe cases. OBJECTIVES: To examine the screening performance of ultrasound-based protocols for detecting T18, we aimed to determine the most common signs and their prevalence in fetuses with T18 to develop logistic regression model. METHODS: This was a prospective study based on singleton pregnancies examined at gestation 11+0 to 13+6. The referrals constituted 6210 patients. Scan protocol enclosed a systematic review of the entire early fetal anatomy, including fetal cardiac evaluation and sonographic signs of aneuploidy. RESULTS: Our study population comprised 5650 pregnancies: 5613 cases with a normal karyotype and 37 cases with T18. The mean nuchal translucency (NT) thickness in the subgroup of euploidy was 1.7 and in the subgroup of T18 it was 5.4. No statistically significant differences were found in terms of maternal age. One case of T18 (2.7%) demonstrated no markers of aneuploidy as opposed to 5111 cases of euploidy (91.1%). Extracardiac malformations were identified in 13 cases of T18 (35.1%) and in 48 cases of euploidy (0.8%). Congenital heart defects were observed in 26 cases of T18 (70.3%) and in 27 cases of euploidy (0.5%). CONCLUSIONS: Our results showed good screening performance of ultrasound-based risk calculation models. When the first trimester pattern of T18 is considered, an increased NT, tricuspid regurgitation, single umbilical artery, omphalocele and right dominant heart should be specifically searched for.