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

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 β-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

Evaluation of the Risk of Birth Defects Related to the Use of Assisted Reproductive Technology: An Updated Systematic Review

Fertility problems constitute a serious medical, social, and demographic problem. With this review, we aim to critically appraise and evaluate the existing literature surrounding the risk of birth defects in offspring conceived using techniques based on assisted reproductive technology (ART). Based on searches of the literature in PubMed and ScienceDirect, we obtained a total of 2,003,275 works related to the topic. Ultimately, 11 original papers published in the last 10 years qualified for inclusion in the study. Based on five studies included in this analysis, it was shown that ART significantly increases the risk of congenital malformations in associated newborns. Due to the specifics of given studies, as well as potential confounding risk factors, this influence cannot be ignored. Therefore, considering the information contained in the articles included in this systematic review, it was determined that the risk of birth defects is not directly related to the use of ART itself but also depends on the age of partners, causes of infertility, comorbidities, and the number of fetuses during a pregnancy, as well as many other factors not covered in the literature. It is thus necessary to impress upon infertile couples who wish to have offspring that the use of ART is not risk-free but that the benefits outweigh the risks. Further education in this field, as well as social understanding, is also required

Niszczeje kopiec Wandy

Gazeta Krakowska. - 2014, nr 150 (1 VII), s.

Risk Assessment of the Increased Occurrence of Congenital Cardiac and Non-Cardiac Defects in Fetuses with a Normal Karyotype after Assisted Fertilization in Comparison to Natural Fertilization Based on Ultrasound Diagnostics

The goal of the study was to assess changes in parameters based on ultrasound examinations—these were Crown Rump Length (CRL), Nuchal Translucency (NT), Fetal Heart Rate (FHR), and Pulsatility Index for Ductus Venosus (DV-PI)—in the first trimester of pregnancy in women in which there was a natural initiation of the pregnancy due to spontaneous ovulation, women in which the pregnancy was initiated as a result of stimulated ovulation, as well as in the group in which pregnancy was achieved through the use of In-Vitro Fertilization (IVF)-assisted reproduction. A total of 1581 women became pregnant without the use of assisted reproduction methods. Out of 283 pregnancies, in 178 patients, induced ovulation was utilized. Next, 137 women had sexual intercourse and became pregnant; 41 of them became pregnant through Intrauterine Insemination (IUI) as a result of Artificial Insemination by Husband (AIH), and 13 became pregnant after Artificial Insemination by Donor (AID). The third group consisted of 105 women subjected to Controlled Ovarian Hyperstimulation (COH). In this group of pregnant women, 53 pregnancies were resultant of Intracytoplasmic Sperm Injection (ICSI), and 52 pregnancies were the result of Intracytoplasmic Morphologically selected Sperm Injection (IMSI). The obtained results did not indicate that the chosen method of fertilization or the chosen ovulation method had a statistically significant effect on the development risk of congenital heart or non-heart defects in the fetus

Renormalization group procedure for potential −g/r2

Schrödinger equation with potential −g/r2 exhibits a limit cycle, described in the literature in a broad range of contexts using various regularizations of the singularity at r=0. Instead, we use the renormalization group transformation based on Gaussian elimination, from the Hamiltonian eigenvalue problem, of high momentum modes above a finite, floating cutoff scale. The procedure identifies a richer structure than the one we found in the literature. Namely, it directly yields an equation that determines the renormalized Hamiltonians as functions of the floating cutoff: solutions to this equation exhibit, in addition to the limit-cycle, also the asymptotic-freedom, triviality, and fixed-point behaviors, the latter in vicinity of infinitely many separate pairs of fixed points in different partial waves for different values of g. Keywords: Renormalization group procedure, Hamiltonian, Limit cycle, Asymptotic freedom, Triviality, Fixed point, Scale symmetry breaking, Quantum mechanic