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Prenatal Testing

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55 papers 25 to 100 followers Prenatal Screening and Testing
By Victoria Miller Trisomy 18 Foundation
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#1
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27748063/testing-cell-free-fetal-dna-emerges-as-trisomy-screen-of-choice-informing-women-about-selective-use-of-test-beyond-fetal-sex-and-common-aneuploidies-is-encouraged
#2
(no author information available yet)
No abstract text is available yet for this article.
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27604555/a-survey-on-awareness-of-genetic-counseling-for-non-invasive-prenatal-testing-the-first-year-experience-in-japan
#3
Junko Yotsumoto, Akihiko Sekizawa, Nobuhiro Suzumori, Takahiro Yamada, Osamu Samura, Miyuki Nishiyama, Kiyonori Miura, Hideaki Sawai, Jun Murotsuki, Michihiro Kitagawa, Yoshimasa Kamei, Hideaki Masuzaki, Fumiki Hirahara, Toshiaki Endo, Akimune Fukushima, Akira Namba, Hisao Osada, Yasuyo Kasai, Atsushi Watanabe, Yukiko Katagiri, Naoki Takeshita, Masaki Ogawa, Takashi Okai, Shunichiro Izumi, Haruka Hamanoue, Mayuko Inuzuka, Kazufumi Haino, Naoki Hamajima, Haruki Nishizawa, Yoko Okamoto, Hiroaki Nakamura, Takeshi Kanegawa, Jun Yoshimatsu, Shinya Tairaku, Katsuhiko Naruse, Hisashi Masuyama, Maki Hyodo, Takashi Kaji, Kazuhisa Maeda, Keiichi Matsubara, Masanobu Ogawa, Toshiyuki Yoshizato, Takashi Ohba, Yukie Kawano, Haruhiko Sago
The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed...
September 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27588713/survey-of-us-obstetrician-opinions-regarding-nipt-use-in-general-practice-implementation-and-barriers
#4
Justin Brewer, Lisa Demers, Thomas Musci
OBJECTIVE: To evaluate the knowledge and opinions of US obstetric providers who use noninvasive prenatal testing (NIPT) to understand current utilization and guide future best practices. METHODS: A questionnaire was designed to assess the level of knowledge and attitudes of OBGYNs toward screening options for aneuploidy, with a focus on NIPT. Initial questions evaluated obstetrician demographics, practice type, and NIPT familiarity. Subsequent questions were designed to solicit current practices regarding aneuploidy screening as well as opinions, experiences, and implications of NIPT...
September 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27618823/what-do-parents-of-children-with-down-syndrome-think-about-non-invasive-prenatal-testing-nipt
#5
Rachèl V van Schendel, Adriana Kater-Kuipers, Elsbeth H van Vliet-Lachotzki, Wybo J Dondorp, Martina C Cornel, Lidewij Henneman
This study explores the attitudes of parents of children with Down syndrome towards non-invasive prenatal testing (NIPT) and widening the scope of prenatal screening. Three focus groups (n = 16) and eleven individual interviews with Dutch parents (and two relatives) of children with Down syndrome were conducted. Safety, accuracy and earlier testing were seen as the advantages of NIPT. Some participants were critical about the practice of screening for Down syndrome, but acknowledged that NIPT enables people to know whether the fetus is affected and to prepare without risking miscarriage...
September 13, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27631408/qualifying-choice-ethical-reflection-on-the-scope-of-prenatal-screening
#6
Greg Stapleton
In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders...
September 8, 2016: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/27645814/cell-free-fetal-dna-testing-for-prenatal-diagnosis
#7
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/27726956/a-forward-look-at-noninvasive-prenatal-testing
#8
Li Liu, Kang Li, Xin Fu, Christopher Chung, Kang Zhang
Genomic abnormalities are a leading cause of birth defects and pregnancy complications, including in utero growth retardation and risk of miscarriage. Traditional invasive methods detecting such genomic abnormalities pose a relative risk to mother and unborn fetus. Non-invasive prenatal testing (NIPT) is a method that determines the genomic status of a fetus in utero by analyzing circulating fetal DNA in maternal plasma or serum. This review comes at a time when more and more physicians and hospitals might be using NIPT; there is great potential in extending this technology to other diagnostic applications...
October 7, 2016: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/27753043/lost-in-translation-ethical-challenges-of-implementing-a-new-diagnostic-procedure
#9
Dagmar Schmitz
Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27781087/report-on-noninvasive-prenatal-testing-classical-and-alternative%C3%A2-approaches
#10
Kateryna S Pantiukh, Nikolay N Chekanov, Igor V Zaigrin, Alexei M Zotov, Alexander M Mazur, Egor B Prokhortchouk
Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT). These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing...
2016: F1000Research
https://www.readbyqxmd.com/read/27779757/analysis-of-cell-free-fetal-dna-in-maternal-blood-for-detection-of-trisomy-21-18-and-13-in-a-general-pregnant-population-and-in-a-high-risk-population-a-systematic-review-and-meta-analysis
#11
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
https://www.readbyqxmd.com/read/27597552/screening-for-trisomy-18-using-traditional-combined-screening-vs-ultrasound-based-protocol-in-tertiary-center-environment
#12
Marcin Wiechec, Anna Knafel, Agnieszka Nocun, Artur Ludwin, Inga Ludwin, Marek Maczka, Damian Zietek, Marcin Pasternok, Dietmar Moosburger, Sebastian Zalewski, Wioletta Rozmus-Warcholinska
OBJECTIVES: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. METHODS: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening...
September 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27018625/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#13
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
March 28, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27256438/-prenatal-diagnosis-of-chromosome-abnormalities-and-nine-microdeletion-syndromes-using-both-traditional-karyotyping-and-bobs
#14
X H Tang, B C Yang, S Zhu, J Su, J M Zhang, Y F Yin, Y Feng, D M Li, Q F Zhao, R Yu, B S Zhu
OBJECTIVE: To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. METHODS: From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis...
May 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/27343319/a-multicenter-study-of-fetal-chromosomal-abnormalities-in-chinese-women-of-advanced-maternal-age
#15
Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao
OBJECTIVE: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate prenatal screening and diagnostic technologies. MATERIALS AND METHODS: Second trimester amniocentesis and fetal karyotype results of 46,258 women were retrospectively reviewed. All women were ≥ 35 years old with singleton pregnancies...
June 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27515011/the-clinical-utility-of-non-invasive-prenatal-testing-in-pregnancies-with-ultrasound-anomalies
#16
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27549925/accuracy-of-first-trimester-combined-test-in-screening-for-trisomies-21-18-and-13
#17
Marta Santorum, David Wright, Argyro Syngelaki, Natalia Karagioti, Kypros H Nicolaides
OBJECTIVE: To examine the diagnostic accuracy of a previously developed model for the first-trimester combined test in screening for trisomies 21, 18 and 13. METHODS: This was a prospective validation study of screening for trisomies 21, 18 and 13 by a combination of maternal age, fetal nuchal translucency, fetal heart rate and serum free ß-hCG and PAPP-A at 11(+0) -13(+6) weeks' gestation in 108,982 singleton pregnancies undergoing routine care in three maternity hospitals...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27550089/the-sphenoid-frontal-distance-in-euploid-and-aneuploid-fetuses
#18
Harald Abele, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Markus Hoopmann, Karl Oliver Kagan
OBJECTIVE: To examine the spheno-frontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare it with euploid population. METHODS: First, we searched the database for pregnancies with the diagnosis of trisomy 21, 18, 13, triploidy or Turner syndrome after 15 weeks' gestation. Whenever possible, we selected images that were obtained between 19 and 22 weeks. For the normal population, we randomly selected two euploid fetuses for each aneuploid case and matched them for gestational age...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26770846/aberrant-barbed-wire-nuclear-projections-of-neutrophils-in-trisomy-18-edwards-syndrome
#19
Basil M Kahwash, Nicholas B Nowacki, Samir B Kahwash
We discuss the significance of neutrophils with increased, aberrant nuclear projections mimicking "barbed-wire" in a newborn child with trisomy 18 (T18). Increased, aberrant nuclear projections have been previously reported in trisomy of the D group of chromosomes (chromosomes 13, 14, and 15), and we report similar findings in a patient with T18. The peripheral blood smear showed relative neutrophilia with the majority (37%) of neutrophils showing two or more thin, rod-shaped or spike-shaped, and often pedunculated aberrant nuclear projections...
2015: Case Reports in Hematology
https://www.readbyqxmd.com/read/26783428/cell-free-dna-testing-in-a-trisomy-21-pregnancy-with-confined-placental-mosaicism-for-a-cell-line-with-trisomy-for-both-chromosomes-18-and-21
#20
Kristy Crooks, Ginger Edwardsen, Siobhan O'Connor, Cynthia Powell, Diane Vargo, Neeta Vora, Kathleen Kaiser-Rogers
NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.
January 2016: Clinical Case Reports
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