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"Trisomy 13"

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
Mahya Sultan Tosun, Vildan Ertekin
Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her physical examination had determined multiple hypopigmented patches. Finally, she was diagnosed phylloid hypomelanosis together with partial trisomy 13 accompanying celiac disease and autoimmune thyroiditis...
November 2015: Turkish Journal of Pediatrics
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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
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]
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
(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
A Kusztrich, D Hüseman, L Garten, H Neitzel, C Bührer
BACKGROUND: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life. METHODS: 30-year single-center retrospective chart analysis (1980-2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant's quality of life and talk about their experiences with medical staff. RESULTS: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved...
September 2016: Klinische Pädiatrie
Amy M Breman, Jennifer C Chow, Lance U'Ren, Elizabeth A Normand, Sadeem Qdaisat, Li Zhao, David M Henke, Rui Chen, Chad A Shaw, Laird Jackson, Yaping Yang, Liesbeth Vossaert, Rachel H V Needham, Elizabeth J Chang, Daniel Campton, Jeffrey L Werbin, Ron C Seubert, Ignatia B Van den Veyver, Jackie L Stilwell, Eric P Kaldjian, Arthur L Beaudet
OBJECTIVE: The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10-16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next-generation sequencing (NGS). METHOD: Nucleated cells from 30 mL of blood collected at 10-16 weeks' gestation were separated from red cells by density fractionation and then immunostained to identify cytokeratin positive and CD45 negative trophoblasts...
September 12, 2016: Prenatal Diagnosis
(no author information available yet)
Neonatal nurses regularly face complex legal and ethical dilemmas. This article discusses the hypothetical case of Jack, a two-day-old infant, born at 39 weeks' gestation, and diagnosed with trisomy 13 (syndrome), a life-limiting condition and being cared for in a neonatal intensive care unit. Jack's prognosis is poor and he is not expected to live past two weeks of age.
September 12, 2016: Nursing Children and Young People
Shafia Shakoor, Dhanwanti Dileep, Summera Tirmizi, Sadia Rashid, Yasmin Amin, Shama Munim
OBJECTIVE: To assess the adverse outcome in pregnancies with raised Nuchal translucency measurement. METHODS: This retrospective study was conducted at the Aga Khan University Hospital, Karachi, Pakistan between January 2001 and December 2015. Women attending the Fetal Medicine unit for first trimester screening by Nuchal translucency were included in the study. All pregnancies were followed up till delivery. Those with incomplete information about the delivery were excluded from the analysis...
September 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
R McDonnell, C Monteith, M Kennelly, A Martin, D Betts, V Delany, S A Lynch, S Coulter-Smith, S Sheehan, R Mahony
BACKGROUND: Chromosomal trisomies are associated with advancing maternal age. In Ireland, information on the total prevalence and outcome of trisomy affected pregnancies is unavailable. This study aimed to ascertain more precise data on Trisomies 21, 18 and 13 in a large Irish region during the period 2011-2013. METHODS: Multiple information sources were used in case finding, including a regional congenital anomaly register, all maternity and paediatric hospitals in the region and the regional Department of Clinical Genetics...
September 2, 2016: Journal of Public Health
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Argyro Syngelaki, Leonardo Guerra, Irene Ceccacci, Tunay Efeturk, Kypros H Nicolaides
OBJECTIVE: To examine the prevalence of alobal holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥3.5 mm, the incidence and types of associated chromosomal abnormalities and the overall impact on the rate of invasive testing and performance of screening for chromosomal abnormalities of offering invasive testing for these four fetal conditions. METHODS: Prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test in three maternity units in England...
August 25, 2016: Ultrasound in Obstetrics & Gynecology
Sasha E Andrews, Ann G Downey, David Scott Showalter, Heather Fitzgerald, Vivian P Showalter, John C Carey, Peter Hulac
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during the prenatal, perinatal, and postnatal periods...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Annie Janvier, Barbara Farlow, Keith J Barrington
Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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