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 NT measurement, 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 were examined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combined screening investigated. Additional ultrasound marker - Nasal Bone was and its impact on Trisomies 18 and 13 screening was examined. RESULTS: Two groups of patients were compared - with chromosomal normal and chromosomal abnormalities - Trisomy 18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 84.1% and FPR was 7.1%. Detection Rates of examined chromosomal abnormalities using screening with additional marker - NB was 93.2% and False Positive Rate - 5.6%. CONCLUSIONS: It should be noted that the qualitative analysis of the assessment of NB in the first trimester significantly influences the improvement of screening values focusing on Trisomy 18 and 13 detection. In summary, our research indicates a more effective type of Trisomy 13 and 18 screening using NT, double test, maternal age, CRL and FHR as well as nasal bone presence and absence.

Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV - the assessment of efficacy.

OBJECTIVES: The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative - the assessment of shape of the A-wave (positive or negative), and quantitative - based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy. MATERIAL AND METHODS: The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11- -13 + 6 wks, as a part of a routine screening for chromosomal defects. In DV A-wave was assessed and DVPI was calculated. After the scan blood sample was taken for first trimester biochemistry (BC). Risk for chromosomal defects was calculated and high-risk patients were offered an invasive test for karyotyping. RESULTS: Basic screening with following combination of markers: MA, NT and BC provided lowest detection rate (DR) 87.50% for FPR = 6.94%. After adding qualitative DV A-wave assessment DR increased to 88.75% for FPR = 5.65%. The best DR = 93.75% for FPR = 5.55% was achieved when quantitative DVPI was added. The application of the Receiver Operating Curves curve confirmed validity of the addition of DV flow assessment to the screening model. The highest diagnostic power of the test was achieved when DVPI was added, with the ROC AUC of 0.974. CONCLUSIONS: The assessment of DV flow performed at 11-13 + 6 weeks increases DR for trisomy 21 and reduces FPR. The screening model based on the quantitative DV flow analysis (DVPI) gives better results compared to the qualitative flow assessment.

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.

Nasal bone in screening for T21 at 11-13 + 6 weeks of gestation - a multicenter study.

OBJECTIVES: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free ß-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). MATERIAL AND METHODS: Ultrasound scan with NB evaluation was performed in 5814 fetuses during routine screening for chromosomal defects at 11 to 13 + 6 weeks of gestation. DR and FPR coefficients were calculated for 4 levels of risk as cut-off points for screening model 1, based on MA, NT, and first trimester biochemistry, as well as for screening model 2, based on MA, NT, first trimester biochemistry and NB. RESULTS: There were 5708 normal cases, 71 cases of trisomy 21 and 35 cases of other chromosomal defects. NB was absent in 46 (64.8%) cases and present in 25 (35.3%) cases of trisomy 21, comparing to present NB in 5463 (95.7%) and absent in 245 (4.3%) of normal cases. CONCLUSIONS: First-semester screening with additional NB assessment significantly increases the detection rate for trisomy 21 and decreases the rate of false-positive results. Adding NB evaluation at the risk level of 1:50 causes only a small increase in detection rate. Invasive procedures should be performed in that group regardless NB assessment.

[Tobacco smoking and body weight of newborns]. / Wplyw palenia tytoniu na mase urodzeniowa noworodków.

Literature data about the effects of tobacco smoke constituents in pregnancy are reviewed. Analysis on the authors material comprises 73 smoking and 70 non-smoking women in pregnancy. In the former group the natal body weight of new born is by 308 g lower and the placental-fetal index by 0.02 higher with no differences in the body weight increase of smoking and non-smoking women in pregnancy.

[Doppler measurements of blood flow in the middle cerebral artery for the diagnosis of fetal anemia]. / Ocena przydatnosci pomiarów przeplywów krwi metoda Dopplera w tetnicy srodkowej mózgu w diagnostyce anemii u plodu.

OBJECTIVES: This paper presents a possibility of non-invasive diagnosis of fetal anemia based on the Doppler assessing of peak systolic velocity (PSV) in the fetal middle cerebral artery. The results of Doppler measurements were compared with fetal peripheral blood count estimated after cordocentesis. MATERIALS AND METHODS: Doppler measurements of blood flow velocity in the fetal middle cerebral artery were performed in years 2000 and 2001 in 22 pregnancies complicated by maternal blood group alloimmunisation. Gestation age varied from 27 to 36 weeks, the mean gestation age was 32 weeks. Depending on hemoglobin concentration in the fetal blood sample the severity of anemia was divided into three groups: severe anemia (Hb = < 7 g%), middle (Hb = = 8-10 g%) and light (Hb = = 10-12 g%). The fourth group consisted of fetuses without anemia (Hb > 12 g%). The results were statistically analyzed to estimate correlation between the Doppler blood flow indexes (PI, RI, SD and PSV) in the middle cerebral artery and the peripheral blood count (Hb, Ht, erythrocyte count) of fetal blood received by cordocentesis. Using T-Student-test the differences of average maximal blood flow velocities and mean Doppler indexes in the group of fetuses with severe anemia (Hb < 7 g%) and fetuses without anemia (Hb > 12 g%) were compared. RESULTS: Highest (negative) correlation was found between the peak systolic velocity and the fetal hemoglobin concentration. The correlation index was -0, 85, which means the higher the peak systolic velocity the lower the hemoglobin concentration. The difference between the mean peak systolic velocity in the group of fetuses with severe anemia and the group without anemia was statistically significant (p < 0.001). However, there was no statistical significant difference in the mean peak systolic velocity between the group with middle anemia (Hb = 10-12 g%) and the group without anemia (Hb > 12 g%). CONCLUSIONS: Doppler ultrasonography with the measurement of peak systolic velocity in the middle cerebral artery is a good method in evaluating of fetal peripheral blood count. Non-invasive peak systolic velocity measurements in the middle cerebral artery allow to assess the fetal hemoglobin concentration and also to reduce the count of diagnostic cordocentesis.