Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 — suitability study

Objectives: The objective of the paper is the suitability assessment of screening for Trisomy 18 and 13 on the basis ofnuchal translucency (NT) measurement, Fetal Heart Rate (FHR), double test, quantitative [Ductus Venosus (DV) PulsatilityIndex for Veins (PIV)] and qualitative (the A-wave assessment) blood flow evaluation in the DV.Material and methods: The study was performed in 7296 singleton pregnancies. In each fetus NT, FHR, DV-PIV wereexamined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combinedscreening investigated. Additional doppler ultrasound markers such as abnormal a-wave in Ductus Venosus and PusatilityIndex for Veins of Ductus Venosus were and their impact on Trisomies 18 and 13 screening were examined.Results: Two groups of patients were compared — with chromosomal normal and chromosomal abnormalities — Trisomy18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 90.2% and FPR was6%. Detection Rates of examined chromosomal abnormalities using contingent screening were: 92.1% using DV abnormala-wave and 94.84% using DV-PIV. FPR’s for booths parameters 5.8% and 5.4% respectively.Conclusions: Quantitative analysis of the flow — assessment of DV-PIV in the first trimester significantly influences theimprovement of screening values focusing on Trisomy 18 and 13 detection

Nasal bone in screening for Trisomy 18 and 13 at 11–13 + 6 weeks of gestation — own experiences

Objectives: The objective of the paper is the suitability assessment of screening for Trisomy 18 and 13 on the basis of NTmeasurement, FHR, double test and assessment of Nasal Bone.Material and methods: The study was performed in 6,661 singleton pregnancies. In each fetus NT, FHR, DV-PIV wereexamined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combinedscreening investigated. Additional ultrasound marker — Nasal Bone was and its impact on Trisomies 18 and 13 screeningwas examined.Results: Two groups of patients were compared — with chromosomal normal and chromosomal abnormalities — Trisomy18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 84.1% and FPRwas 7.1%. Detection Rates of examined chromosomal abnormalities using screening with additional marker — NB was93.2% and False Positive Rate — 5.6%.Conclusions: It should be noted that the qualitative analysis of the assessment of NB in the first trimester significantlyinfluences the improvement of screening values focusing on Trisomy 18 and 13 detection. In summary, our research indicatesa more effective type of Trisomy 13 and 18 screening using NT, double test, maternal age, CRL and FHR as well asnasal bone presence and absence

Frontomaxillary Facial Angle Measurement in Screening for Trisomy 18 at 11 + 0 to 13 + 6 Weeks of Pregnancy: A Double-Centre Study

Objective. The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement. Material and Methods. The study involved 1751 singleton pregnancies at 11–13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis. Results. Highly significant (P<0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P<0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80–85% and FPR 0.3–0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3–93.3% and FPR 0.8–1.3%). Conclusions. The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations

Hypoplastic left heart syndrome: from the prenatal to the postnatal period

Objectives: To analyse a population of foetuses with prenatally diagnosed hypoplastic left heart syndrome (HLHS). Material and methods: Retrospective study of foetuses diagnosed with HLHS between 2013 and 2017 in a referral centre. Results: HLHS was found in 9.7% (65/665) of foetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, HLHS was present in 40% of cases; in 24.5% other CVA were detected; in 14%, CVA and extracardiac anomalies; and in 21.5% only extracardiac malformations. Genetic disorders were present in 18.4% (12/65) of foetuses. 42% of cardiovascular and 25% of extracardiac anomalies were diagnosed postnatally. There were 10 (15.4%) elective terminations, 1 (1.5%) spontaneous foetal demise. Two newborns died after birth before surgery. Of the 52 children who underwent Norwood surgery, 13 (25%) died (9 with additional anomalies, and 4 with isolated HLHS). Of the 38 children who underwent stage II surgery, 2 (5.2%) with isolated HLHS died, and 1 (2.6%) with CVA. Conclusions: A diagnosis of HLHS is an indication for a detailed examination of cardiac and noncardiac structures. It is advisable to consider genetic testing, together with the microarray assessment. The prognosis depends on underlying cardiac and extracardiac anomalies and coexisting genetic defects

A Retrospective Study on the Risk of Respiratory Distress Syndrome in Singleton Pregnancies with Preterm Premature Rupture of Membranes between 24+0 and 36+6 Weeks, Using Regression Analysis for Various Factors

Aim. This study aimed to investigate the cause of respiratory distress syndrome (RDS) in neonates from singleton pregnancies with preterm premature rupture of membranes (pPROM) between 24+0 and 36+6 weeks by using regression analysis for various factors. Methods. In 175 singleton pregnancies with pPROM, 95 cases of RDS (54,29%) were diagnosed. In all cases the following information was collected: latency period of PROM, gestational age at birth, Umbilical Artery Pulsatility Index (UA PI), Middle Cerebral Artery Pulsatility Index (MCA PI), fetal distress, antenatal steroids use, delivery type, pregnancy hypertension disease, gestational glucose intolerance or diabetes, neonatal laboratory parameters, gender, weight, Apgar score, and other neonatal complications. Logistic regression analysis was used to investigate the effect of variables on RDS. Results. The results of logistic regression analysis showed that the following variables are closely correlated with RDS: female gender (OR=0.52; 95%CI:0.28-0,97), antenatal steroids use (OR=0,46; 95%CI:0,34-0,64), abnormal UA PI and MCA PI (OR=2.96; 95%CI:1,43-6,12) (OR=2.05; 95%CI:1,07-3,95), fetal distress (OR=2.33; 95%CI:1,16-4,71), maternal HGB (OR=0.69; 95%CI:0,5-0,96), and neonatal RBC, HGB (OR=0.32; 95%CI:0,19-0,55) (OR=0.75; 95%CI:0,65-0,88). Conclusions. The main RDS risk factors in premature neonates are gender, abnormal fetoplacental circulation, and fetal distress. The laboratory parameters such as lower RBC and HGB count are observed in infants with RDS