The role of fetal nuchal translucency (NT) and ductus venosus blood flow (DV) in the detection of congenital heart defects

Summary Cardiac defects, the most common forms of congenital defects, are found in 3-8 of every 1000 pregnancies. Currently only 15-30% of CHD in newborns is detected prenatally. There are different strategies to increase the prenatal detection of cardiac abnormalities. Nuchal translucency screening and ductus venosus blood flow have been suggested to be useful methods of identifying cardiac anomalies in chromosomally normal fetuses. Objective: To examine the association between nuchal translucency thickness and ductus venosus blood flow between 11-13.6 week of pregnancy and CHD in chromosomally normal fetuses. Material and methods: Patients with singleton pregnancies at 11 to 13.6 weeks of gestation were recruited to undergo nuchal translucency sonography. The prevalence of major cardiac defects was determined and the utility of screening for nuchal translucency thickness including sensitivity, specificity, and positive and negative predictive values, were calculated for the NT thickness cut off points of the 95th and 99th centile for CRL. Ductus venosus Doppler ultrasound blood flow velocity waveforms were obtained at 10-13.6 weeks gestation. Results: 4720 gestations were analyzed, of which 13 newborn infants had CHD. The incidence of major CHD increased with increasing NT. Sensitivity, specificity, and positive predictive values were 45.4%, 92% and 1.5% at 99.8th percentile, and 25%, 98.5%, 3.2% and 99.8% at 99th percentile. Reverse or absent flow during atrial contraction was observed in 8 out of the 13 (61.5%) chromosomally normal fetuses with CHD. Conclusion: Measurement of fetal nuchal translucency thickness and ductus venosus blood flow at 11-13.6 weeks of pregnancy is a sensitive method of screening for CHD. The prevalence of CHD increases with increasing fetal NT and abnormal ductus venosus blood flow. Increased NT or abnormal ductus venosus blood flow is a strong indication for fetal echocardiograph

Nasal bone (NB) length measurement in the first trimester of pregnancy in Polish population and its validity as fetal aneuploidy indicator

Objectives: Dynamic development of prenatal diagnostics is mostly directed towards search for non-invasive screening. The main role of the screening methods is to select high-risk fetal aneuploidy group of pregnant women. The base for the prenatal screening in modern obstetrics is ultrasound scanning. Design: The aim of the study was to estimate typical value range for the fetal nasal bone length measurement (NB) between 11th and 20th week of pregnancy, in Polish population. The second aim was to assess the value of the parameter as an aneuploidy marker. Materials and methods: The study was conducted between 1999-2006, in the 1st Division of Obstetrics and Gynaecology, Medical University in ¸ode. The investigated population comprised 2960 pregnant women. 53 cases of the fetal chromosomal aneuploidies were diagnosed. Results: Typical values for the nasal bone measurement were estimated. The investigations showed that until 13th gestation week, visualization of the presence or absence of the nasal bone on the ultrasound scan is a better marker for fetal aneuploidy diagnosis than the measurement. However, since the 14th week, it is the measurement that becomes the most adequate method of the fetal nasal bone assessment. Conclusions: 1. We estimated the normal value range for the fetal nasal bone length measurement (NB) between 11 and 20 weeks of pregnancy. 2. The nasal bone length is an useful marker for the fetal aneuploidy. 3. The predictive value of the method suggests the visualization of the nasal bone presence in the 1st trimester of the pregnancy as a screening method. The measurement of the NB proves to be a useful method in the prenatal diagnostic in the 2nd trimester of the pregnancy

Connection between uterine myomas and biochemical screening results in the first and second trimester of pregnancy

Abstract Objectives: Uterine myomas may change the concentrations of the screening serum markers and therefore alter the risk calculation of the fetal chromosomal abnormalities. An increased risk leads to invasive diagnostics procedures which in these cases can often be technically difficult due to the presence of myomas. Aim: The aim of this study was to assess the influence of uterine myomas on the first and second trimester serum markers concentrations and, possibly, on the test results. Material and methods: The study group consisted of 127 women between 11 and 20 weeks of normal singleton pregnancy. In each case uterine myomas were diagnosed – over 20 mm in the diameter and located in the uterine wall. 77 patients underwent the first trimester screening (PAPP-A & free β-hCG) and 50 patients had the second trimester screening (triple test). The control group consisted of 1020 women between 11 and 20 weeks of normal singleton pregnancy without uterine myomas. Delfia Xpress analyser was used for the serum markers estimations. All pregnant women delivered normal healthy babies. Results: In the first trimester group the PAPP-A serum concentrations were not different from the controls while the mean median concentration of free β-hCG were significant higher – 1.43 MoM. In the second trimester group the following mean median values were observed: no significance for the AFP – 1.18 MoM and estriol – 1.29 MoM and significantly higher mean median value for the free β-hCG – 2.01 MoM. Conclusions: 1. The presence of the uterine myomas is connected with the increased maternal serum concentration of the β-hCG, particularly in the second trimester. 2. The uterine myomas may lead to the increased rate of the false positive results of the prenatal screening test, especially the triple test