... in the family following the daughter’s birth with trisomy 21 diagnosis and the subsequent persistent psychic disturbance of the same required hospitalization in psychiatric wards along with pharmacological and support therapies, especially the father. Significant family reaction-adaptation to an unexpected...

...Clare O’Connor; Rebecca Moore; Peter McParland; Heather Hughes; Barbara Cathcart; Shane Higgins; Rhona Mahony; Steve Carroll; Jennifer Walsh; Fionnuala McAuliffe Objective: The aim of the study was to prospectively gather data on pregnancy outcomes of prenatally diagnosed trisomy 21 (T21...

...Karl Oliver Kagan; Vanessa Maier; Jiri Sonek; Harald Abele; Kai Lüthgens; Maximilian Schmid; Philipp Wagner; Markus Hoopmann Objective: To determine whether screening for trisomy 21 based on first-trimester combined screening (FTCS) with assessment of nasal bone (NB), tricuspid flow (TCF...

... Brudno; Christine M. Armour Objective: To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. Methods: A customized AmpliSeq panel was designed with 1,067 primer pairs targeting specific regions on chromosomes...

...Manuella Gautier; Michèle Gueneret; Corinne Plavonil; Eugénie Jolivet; Bruno Schaub Objective: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. Methods: Prenatal...

...Caroline Borregaard Miltoft; Camilla B. Wulff; Susanne Kjærgaard; Charlotte K. Ekelund; Ann Tabor; the Danish Fetal Medicine Study Group Introduction: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort...

... associated with nonsurvival were polyhydramnios, hydrops placentae and mediastinal shift at initial scan, onset of hydrops after first shunt placement, rupture of membranes, a shunt-birth interval <4 weeks and low gestational age at birth. In our cohort, fetuses with trisomy 21 had a significantly better...

... patients including 274 trisomy 21-affected fetuses. NT was measured by more than 3,000 certified sonographers. Results: There was no significant difference in detection rates between the two strategies including or excluding NT measurement (86.7 vs. 81.8%). However, there was a significant difference...

...Marcin Wiechec; Anna Knafel; Agnieszka Nocun; Anna Matyszkiewicz; Magdalena Juszczak; Ewa Wiercinska; Emilia Latała Objective: To evaluate the most common first-trimester ultrasound features of fetuses with trisomy 21 (T21) and to examine the screening performance for Down syndrome (DS) using only...

...Philipp Wagner; Jiri Sonek; Markus Hoopmann; Harald Abele; Sara Brucker; Karl Oliver Kagan Objective: To examine the umbilical arterial Doppler flow patterns in late third-trimester fetuses with trisomy 21. Methods: This is a retrospective study on fetuses with trisomy 21 that were evaluated after...

.... 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...

... in two large datasets: (1) a dataset from the Central Denmark Region including 147,768 pregnancies from October 2003 to October 2013, and (2) a national dataset including 220,739 pregnancies from January 2008 to August 2011. Results: For trisomy 21, the weekly median multiple of the median (MoM...

... Geneticists (ISMG) supports its use according to the guidelines stated herein. The clinical data collected thus far indicate that NIPT is highly sensitive in detecting trisomies 21 and 18, and fairly sensitive in detecting trisomy 13 and sex chromosome aneuploidies. Because false-positive results may occur...

...Jennifer Alphonse; Jenny Cox; Jillian L. Clarke; Philip J. Schluter; Andrew McLennan Objective: To assess 2D and 3D frontomaxillary facial angle (FMFA) measurements in euploid and trisomy 21 fetuses. Materials and Methods: Over a 2-year period, women with singleton pregnancies attending a private...

... 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...

... fetuses in the assessment of risk for trisomies in twin pregnancies. Methods: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening...

... isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies...

... medians, the 5th and 95th percentiles and distribution parameters for unaffected and trisomy 21 fetuses were newly calculated. Results: A significant DVPI multiple of the median decrease was observed over both the study period (p < 0.01) and over gestation (p < 0.01) using previous medians...

... weeks’ gestation was assessed in 62 cases of trisomy 21, 32 of trisomy 18, 10 of trisomy 13, and 12 of triploidy and compared to 410 normal euploid fetuses. Transvaginal sonography was carried out and 3D brain volumes were acquired. The fetal head was assessed in an axial plane and the diameter...

...George Seow Heong Yeo; Fon-Min Lai; Xing Wei; Padma Lata; Doreen Tsai Hia Tan; Min Hwee Yong; Edward Teck Hoo Tan; Kenneth Yung Chiang Kwek Introduction: The aim of this study is to describe the performance of first trimester screening (FTS) for trisomy 21 using maternal age, serum biochemistry...