Read by QxMD icon Read

Trisomy 18

Erik Iwarsson, Bo Jacobsson, Jessica Dagerhamn, Thomas Davidson, Eduardo Bernabé, Marianne Heibert Arnlind
INTRODUCTION: To review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. MATERIAL AND METHODS: Systematic Review and Meta-Analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model...
October 25, 2016: Acta Obstetricia et Gynecologica Scandinavica
Gregory Orchard, Helen Wordsworth, Ross Brookwell
No abstract text is available yet for this article.
February 2016: Pathology
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
October 19, 2016: Prenatal Diagnosis
Sarah Crimmins, Lauren Doyle, Julia Slejko, Jerome N Kopelman, Ozhan Turan
OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cfDNA) in an urban population who did not have first trimester screening as a primary screening tool for trisomy 21(T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013-2015. All QUAD screen performed between 15-21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
Dick Oepkes, Lieve C Page-Christiaens, Caroline J Bax, Mireille N Bekker, Catia M Bilardo, Elles M J Boon, G Heleen Schuring-Blom, Audrey B C Coumans, Brigitte H Faas, Robert-Jan H Galjaard, Attie T Go, Lidewij Henneman, Merryn V E Macville, Eva Pajkrt, Ron F Suijkerbuijk, Karin Huijsdens-vanAmsterdam, Diane Van Opstal, E J Joanne Verweij, Marjan M Weiss, Erik A Sistermans
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome...
October 17, 2016: Prenatal Diagnosis
Guijie Qi, Jianping Yi, Baosheng Han, Heng Liu, Wanru Guo, Chong Shi, Lirong Yin
This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups...
October 2016: Medicine (Baltimore)
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing in average...
October 13, 2016: Current Molecular Medicine
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Minae An, Jungsu Ha, Kyusang Lee, Byung Chul Kim, Hailing Zheng, Xinqiang Zhu, Hongliang Chen, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing. METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea...
October 3, 2016: BMC Medical Genomics
Yoshimitsu Fujii, Eriko Kanda, Masato Hirabayashi, Kenji Mine, Atsushi Ohashi, Shoji Tsuji, Kazunari Kaneko
BACKGROUND: Trisomies 13 and 18 (T13/18) are autosomal trisomy syndromes with dismal prognoses. Deciding whether to perform a chromosomal analysis for the definitive diagnosis is often difficult (even for experienced pediatricians) because representative clinical signs may not be found in all T13/18 neonates. OBJECTIVES: This study aimed to investigate any clinical signs that could be useful for screening for T13/18 in participants without the representative clinical signs traditionally found in odd-looking neonates with malformation syndromes...
August 2016: Iranian Journal of Pediatrics
Justine Niemczyk, Alexander von Gontard, Monika Equit, David Medoff, Catharina Wagner, Leopold Curfs
AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. METHODS: Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59...
October 4, 2016: Neurourology and Urodynamics
J R Sawyer, E Tian, J D Shaughnessy, J Epstein, C M Swanson, C Stangeby, C L Hale, L Parr, M Lynn, G Sammartino, J L Lukacs, C Stein, C Bailey, M Zangari, F E Davies, F Van Rhee, B Barlogie, G J Morgan
Hyperhaploid clones (24-34 chromosomes) were identified in 33 patients with multiple myeloma (MM), identifying a novel numerical cytogenetic subgroup. Strikingly, all hyperhaploid karyotypes were found to harbor monosomy 17p, the single most important risk stratification lesion in MM. A catastrophic loss of nearly a haploid set of chromosomes results in disomies of chromosomes 3,5,7,9,11,15,18,19, and 21, the same basic set of odd-numbered chromosomes found in trisomy in hyperdiploid myeloma. All other autosomes are found in monosomy, resulting in additional clinically relevant monosomies of 1p, 6q, 13q, and 16q...
October 3, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Christopher K Ellison, Youting Sun, Grant Hogg, Jesse Fox, Helen Tao, Erin McCarthy, Bright Sagoe, Mostafa A Azab, Amin R Mazloom, John Tynan, Timothy Burcham, Sung K Kim, Dirk van den Boom, Mathias Ehrich, Taylor J Jensen
BACKGROUND: Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed an NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma...
September 30, 2016: Clinical Chemistry
E Merz, C Thode, B Eiben, S Wellek
AIM: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. METHODS: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL [corresponding to 63 to 98 days of gestation]...
March 2016: Ultrasound Int Open
R Q Yang, Z Y Liu, J Hu, Y Nan, L M Fan
Objective: To explore the relationship between fetal radius loss and chromosomal abnormalities. Methods: Collect data of 3 100 cases pregnant women who had been checked in the second hospital of Jilin University from 2012 to 2015.There were 8 cases of absent radius, except 1 case of fetal lost follow-up, the remaining 7 cases had complete ultrasound, chromosome examination and the result of induction.The relationship between fetal radius loss and chromosomal abnormalities were analysed. Results: There were 1 case of 21 trisomy syndrome, 1 case of trisomy 13 syndrome, 2 cases of trisomy 18, 2 cases of chromosome translocation, 1 case of normal chromosome result and 1 case was lost to follow-up of the 8 absent radius fetuses...
September 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Juli-Anne Gardner, Jason D Peterson, Scott A Turner, Barbara L Soares, Courtney R Lancor, Luciana L Dos Santos, Prabhjot Kaur, Deborah L Ornstein, Gregory J Tsongalis, Francine B de Abreu
OBJECTIVES: To describe three methods used to screen for frameshift mutations in exon 9 of the CALR gene. METHODS: Genomic DNA from 47 patients was extracted from peripheral blood and bone marrow using the EZ1 DNA Blood Kit (Qiagen, Valencia, CA) and quantified by the Quant-iT PicoGreen dsDNA Assay Kit (Invitrogen, San Diego, CA). After clinical history, cytogenetics, and molecular tests, patients were diagnosed with either clonal or nonclonal hematologic diseases...
October 2016: American Journal of Clinical Pathology
Soo Yeon Park, In Ae Jang, Min Ah Lee, Young Ju Kim, Sun Hee Chun, Mi Hye Park
OBJECTIVE: This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital. METHODS: All women admitted for routine antenatal care between January 1st 2008 and December 31st 2012 with a known pregnancy outcome were included in this study, totaling 1,156 women with singleton pregnancies presenting at 10 to 13 weeks of gestation. Women were offered screening using a combination of maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and fetal nuchal translucency thickness...
September 2016: Obstetrics & Gynecology Science
Xiongbin Kang, Jun Xia, Yicong Wang, Huixin Xu, Haojun Jiang, Weiwei Xie, Fang Chen, Peng Zeng, Xuchao Li, Yifan Xie, Hongtai Liu, Guodong Huang, Dayang Chen, Ping Liu, Hui Jiang, Xiuqing Zhang
BACKGROUND: With the speedy development of sequencing technologies, noninvasive prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal aneuploidy. The cell-free fetal DNA (cffDNA) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of NIPT-based sequencing for fetal trisomies 21, 18 and 13. Several approaches have been developed to calculate the cffDNA fraction of the total cell-free DNA in the maternal plasma...
2016: PloS One
(no author information available yet)
The cover photographs were all taken by Rick Guidotti, famous photographer and founder of Positive Exposure, at the 2016 SOFT Conference in Tacoma, WA. The children have full trisomy 13 or 18 with the exception of one girl with trisomy 13 mosaicism.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
John C Carey, Tomoki Kosho
The trisomy 13 and trisomy 18 syndromes are important and relatively common chromosome conditions each consisting of a recognizable pattern of multiple congenital anomalies, an increased neonatal and infant mortality, and a marked cognitive and motor disability in older children. Because of the medically serious nature of the outcomes, the traditional approach to management in the newborn and early infancy periods has been to withhold technological support and surgery. In the last decade a rich dialogue has emerged in the literature; one view makes the case for pure comfort care for the benefit of the child while the other view supports full intervention in appropriate situations...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Terence J Colgan, Martin C Chang, Shabin Nanji, Elena Kolomietz
The diagnosis of partial hydatidiform mole (PM) is especially difficult early in gestation as the morphology of nonmolar abortus (NMA) may mimic PM. Molecular genotyping analysis can definitively identify diandric triploidy, the genetic basis for PM, whereas NMA cases show a biparental inheritance. This 4-year retrospective study sought to determine what proportion of NMA cases which were initially suspected as being PM was aneuploid, and whether this knowledge of aneuploidy status is clinically useful. Cases with atypical villous morphology on histopathology suggestive of PM were subjected to molecular genotyping...
September 15, 2016: International Journal of Gynecological Pathology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"