نتایج جستجو برای: common aneuploidies

تعداد نتایج: 682917  

2017

National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Can Liao Ai-hua Yin Chun-fang Peng Fang Fu Jie-xia Yang Ru Li Yang-yi Chen Dong-hong Luo Yong-ling Zhang Yan-mei Ou Jian Li Jing Wu Ming-qin Mai Rui Hou Frances Wu Hongrong Luo Dong-zhi Li Hai-liang Liu Xiao-zhuang Zhang Kang Zhang

Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...

2014
Xiangdong Kong Lin Li Lei Sun Kepeng Fu Ju Long Xunjin Weng Xuehe Ye Xinxiong Liu Bo Wang Shanhuo Yan Haiming Ye Zuqian Fan

The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies. This method is based on the co-amplification of segmental duplications located on two different chromosomes using a single pair of fluorescent primers. The PCR products of different ...

2011
J. J. P. M. Pieters A. J. A. Kooper A. Geurts van Kessel D. D. M. Braat A. P. T. Smits

Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex c...

Journal: :The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012
Tze Kin Lau Fang Chen Xiaoyu Pan Ritsuko K Pooh Fuman Jiang Yihan Li Hui Jiang Xuchao Li Shengpei Chen Xiuqing Zhang

OBJECTIVE To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. METHODS Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12(+5) week) immediately before chorionic villus sampling (CVS) or amniocentesis. Data were analysed u...

2017
Jiwu Lou Manna Sun Ying Zhao Zhisong Ji Fenghua Liu Dongzhi Li Wanfang Xu Yangyang Lin Yanhui Liu

BACKGROUND During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies. ...

Journal: :مجله پزشکی مولکولی 0
najmeh ahangari department of genetics and biotechnology, faculty of medicine, hormozgan university of medical sciences, bandae abbas, iran mohammad doosti doosti department of molecular genetics, hope generation genetic polyclinic, mashhad, iran elaheh ahangari department od statistics, mashhad university of payam-e-noor, mashhad, iran. nafise baradarn rafiee department of obstetrics and gynecology, emam reza hospital, mashhad university of medical sciences, mashhad, iran ehsan ghayoor karimiani department of molecular genetics, honorary research associate, university of manchester, uk

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

Bazrgar M, Gourabi H

Genetic aberrations are commonly seen in human preimplantation embryos. Non-disjunction and premature division of a chromosome are common in both meiosis and mitosis divisions. The expected result for meiotic aneuploidies is full aneuploidy in the later stages whereas mosaicism is the most frequent event in the cleavage and blastocyst stages. The main causes for mosaicism are post-zygotic event...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید