.... Methods: Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR products were subsequently divided between two...

...) increased from 0.37 in week 6 to 0.70 in week 13 (pregnancy-associated plasma protein-A), and from 0.99 in week 6 to 2.68 in week 13 (free βhCG). The overall detection rate (DR) for fetal trisomy 21 was 91.2%. Employing blood samples from gestational week 9, the DR was 97% (p = 0.05). For fetal trisomy 18...

... 99.0% (95% CI 98.2-99.6) and 0.08% (95% CI 0.03-0.14), respectively, for trisomy 21; 96.8% (95% CI 94.5-98.4) and 0.15% (95% CI 0.08-0.25) for trisomy 18; 92.1% (95% CI 85.9-96.7) and 0.20% (95% CI 0.04-0.46) for trisomy 13; 88.6% (95% CI 83.0-93.1) and 0.12% (95% CI 0.05-0.24) for monosomy X, and 93.8...

... and to demonstrate if these diagnostic armamentarium tools will lead to a diagnostic enhancement of cleft lip and palate in early pregnancy. Aneuploidy Cleft palate Fetal diagnosis Fetal ultrasound First trimester Prenatal diagnosis Trisomy 13 Trisomy 18 © 2013 S. Karger AG, Basel 2013 Copyright...

...: In a nested case-control study, cfDNA was extracted from maternal plasma obtained before chorionic villous sampling from 300 euploid, 50 trisomy 21 and 50 trisomy 18 pregnancies at 11–13 weeks’ gestation. Chromosome-selective sequencing of maternal cfDNA non-polymorphic and polymorphic loci, where fetal...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Prenatal diagnosis Trisomy 13 Trisomy 18 Grieving Natural history Original Paper Fetal Diagn Ther 2011;29:233 237 DOI: 10.1159/000322133...

... of this placental protein in screening for aneuploidies at 11–13 weeks. Methods: The maternal serum concentration of PP13 at 11–13 weeks was compared in 536 euploid and 134 aneuploid pregnancies (trisomy 21: n = 49; trisomy 18: n = 28; trisomy 13: n = 19; Turner syndrome: n = 28; triploidy: n = 10). Results: Serum...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2010 Prenatal screening Nuchal translucency Trisomy 13 Trisomy 18 Biochemical screening Original Paper Fetal Diagn Ther 2010;27:68 71 DOI: 10.1159/000291490 Received...

...G. Grangé; R. Favre; B. Gasser A rare case of craniorachischisis associated with trisomy 18 is described. The diagnosis was made by endovaginal sonography during the first trimester of pregnancy. The case is interesting for two reasons. First, it confirms the importance of carrying out an accurate...

... diagnosis. A chromosomal aberration was detectable only in 1 fetus (trisomy 18, this fetus had the additional malformations described above), the other fetuses all displaying neither chromosomal nor morphological abnormalities. All fetuses, excluding 1 (the pregnancy was terminated due to trisomy 18) were...

... reticulum calcium ATPase (calcium ATPase), which is known to be downregulated in postnatal heart failure. After termination of pregnancy at 10–18 weeks of gestation, mRNA was extracted from cardiac tissue in 11 trisomy 21 and 4 trisomy 18 fetuses. Densitometric analysis of the Northern and slot blots...

...Jon A. Hyett; Gonzalo Moscoso; Kypros H. Nicolaides In trisomy 18, echocardiographic studies of affected neonates and pathological studies of stillbirths and infants have demonstrated a high incidence of cardiac defects. Fetal trisomy 18 can now be detected at 11–14 weeks of gestation, providing...

...Itai Bar-Hava; Moshe Bronshtein; Arie Drugan A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were non-septated nuchal cysts. At 17 weeks the ultrasound examination...

...Laxmi Baxi; Stephen Brown; Harshwardhan M. Thaker In the literature, conflicting reports on the significance of false-positive maternal serum multiple marker testing for trisomy 18 are encountered; however, the biology of this finding is discussed infrequently. We present such a case in association...

...Kenneth I. Lim; Marie-France Delisle; Sandra J. Austin; R. Douglas Wilson Objectives: To evaluate whether the cephalic index (CI) in trisomy 21 (T21) and trisomy 18 (T18) fetuses is different from that in euploid fetuses, and if so, is this difference of clinical utility. Methods: Retrospective...

...George Makrydimas; Evangelos G.E. Papanikolaou; Evangelos Paraskevaidis; Minas Paschopoulos; Dimitrios Lolis Trisomy 18 is the second most common multisystem malformation syndrome. We present here a case of a fetus with trisomy 18, in which upper limb reduction was detected prenatally...

..., and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, and congenital heart defects, features characteristic of trisomy 18. Karyotyping confirmed a diagnosis of trisomy 18. After...

..., 406 fetal iliac angle measurements were performed in women in the second trimester of their pregnancies. The iliac angle measurements in fetuses with trisomy 21 (n = 25), trisomy 18 (n = 10) and trisomy 13 (n = 5) were compared with iliac angle measurement in fetuses with normal karyotypes (n = 333...

...Faisal Qureshi; Suzanne M. Jacques; Baruch Feldman; Barbara J. Doss; Anthony Johnson; Mark I. Evans; Mark P. Johnson Fetal obstructive uropathy has seldom been described in trisomy syndromes, and its relationship to these syndromes remains unclear. Five trisomic male fetuses, four with trisomy 18...

...Rubén A. Quintero; Mark P. Johnson; Gustavo Mendoza; Mark I. Evans Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons...