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noninvasive prenatal diagnosis

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https://www.readbyqxmd.com/read/27908601/corrigendum-to-a-pregnancy-with-discordant-fetal-and-placental-chromosome-18-aneuploidies-revealed-by-invasive-and-noninvasive-prenatal-diagnosis-reproductive-biomedicine-online-29-2014-136-139
#1
Chong Chen, David S Cram, Fanni Xie, Ping Wang, Xueqin Xu, Huanzheng Li, Zhuo Song, Di Chen, Jianguang Zhang, Shaohua Tang
No abstract text is available yet for this article.
November 28, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#2
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27863915/prenatal-ultrasound-monitoring-of-homozygous-%C3%AE-0-thalassemia-induced-fetal-anemia
#3
REVIEW
Helena H L Lee, Annisa S L Mak, C F Poon, K Y Leung
A noninvasive approach by serial ultrasound examination at 12-15, 18, and 30 weeks of gestation can be used to exclude homozygous α(0)-thalassemia-induced fetal anemia. At 12-15 weeks of gestation, the predictive values for the fetal cardio-thoracic ratio were better than that for the placental thickness. At 16-20 weeks of gestation, measuring middle cerebral artery peak systolic velocity is associated with a low false-positive rate. However, the false-positive rate of this noninvasive approach can be about 3%, requiring an invasive test to confirm the diagnosis...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#4
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NHSL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27741136/noninvasive-prenatal-testing-in-routine-clinical-practice-for-a-high-risk-population-experience-from-a-center
#5
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)
https://www.readbyqxmd.com/read/27645814/cell-free-fetal-dna-testing-for-prenatal-diagnosis
#6
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/27634052/a-systematic-review-of-prenatal-screening-for-congenital-heart-disease-by-fetal-electrocardiography
#7
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/27537837/benefits-and-limitations-of-prenatal-screening-for-prader-willi-syndrome
#8
Merlin G Butler
This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening...
August 18, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27531802/-application-of-rassf1a-to-noninvasive-fetal-abo-genotyping-in-pregrnant-peripheral-plasma
#9
Ling Ma, Yan-Chun Liu, Ruo-Yang Zhang, Xiao-Yu Zhou, Jing-Ming Xun
OBJECTIVE: To investigate the feasibility of noninvasive fetal ABO genotyping based on RASSF1A gene with circulating cell-free fetal DNA(cffDNA) from maternal plasma. METHODS: DNA was extracted from the O group pregnant plasma, and the presence of cffDNA was confirmed by fetal DNA maker SRY and RASSF1A. B and non-O were detected by real-time PCR, and the genotyping results were evaluated by using the serologic tests for ABO phenotyping. RESULTS: Among the samples of 20 cases, the SRY was found in 11 cases by detecteion, the detection results were consistent with sex of infants after delivery; the RASSF1A was amplified all in samples of other 9 cases after BstU1 cleavage, which confirmed existance of cffDNA...
August 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27437397/dasaf-an-r-package-for-deep-sequencing-based-detection-of-fetal-autosomal-abnormalities-from-maternal-cell-free-dna
#10
Baohong Liu, Xiaoyan Tang, Feng Qiu, Chunmei Tao, Junhui Gao, Mengmeng Ma, Tingyan Zhong, JianPing Cai, Yixue Li, Guohui Ding
Background. With the development of massively parallel sequencing (MPS), noninvasive prenatal diagnosis using maternal cell-free DNA is fast becoming the preferred method of fetal chromosomal abnormality detection, due to its inherent high accuracy and low risk. Typically, MPS data is parsed to calculate a risk score, which is used to predict whether a fetal chromosome is normal or not. Although there are several highly sensitive and specific MPS data-parsing algorithms, there are currently no tools that implement these methods...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27388745/a-program-on-noninvasive-prenatal-diagnosis-of-%C3%AE-thalassemia-in-mainland-china-a-cost-benefit-analysis
#11
Yu Yang, Dong-Zhi Li, Ping He
The aim of the present study was to determine the cost effectiveness of a noninvasive prenatal diagnosis (PND) program for α-thalassemia (α-thal) using ultrasound scan. During a 5-year period, 1923 pregnancies at-risk for homozygous α(0)-thal were recruited into the noninvasive PND program. There were 1452 women who avoided invasive testing because of a normal ultrasound scan. The remaining 471 showed abnormal fetal ultrasonographic findings, and invasive testing was recommended. The overall cost of running the noninvasive PND program was US$213,383, while the cost of running the invasive program would have been US$554,810...
August 2016: Hemoglobin
https://www.readbyqxmd.com/read/27378492/new-developments-in-prenatal-diagnosis-of-congenital-adrenal-hyperplasia
#12
Diya Kazmi, Jack Bailey, Maggie Yau, Wahid Abu-Amer, Ameet Kumar, Merly Low, Tony Yuen
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Females affected with classical CAH are at risk for genital ambiguity, but can be treated in utero with dexamethasone before 9 gestational weeks to prevent virilization. Early genetic diagnosis is unavailable through current invasive methods of chorionic villus sampling and amniocentesis. New developments in prenatal genetic testing utilize fetal DNA extracted from maternal blood through noninvasive methods, which allow the determination of fetal gender and the diagnosis of CAH at an early gestational age (<9 weeks)...
July 1, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27357315/evaluation-of-preferences-of-women-and-healthcare-professionals-in-singapore-for-implementation-of-noninvasive-prenatal-testing-for-down-syndrome
#13
Angela Natalie Barrett, Henna Vishal Advani, Lyn S Chitty, Lin Lin Su, Arijit Biswas, Wei Ching Tan, Melissa Hill, Mahesh Choolani
INTRODUCTION: Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but is associated with a small risk of miscarriage. Meanwhile, noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS that removes the risk of miscarriage, but confers a small risk of false-positive and false-negative results. Their implementations into clinical practice require an understanding of stakeholder preferences...
June 29, 2016: Singapore Medical Journal
https://www.readbyqxmd.com/read/27295145/-women%C3%A2-s-preferences-for-prenatal-tests-a-discrete-choice-experiment-to-contrast-noninvasive-prenatal-testing-with-current-invasive-tests
#14
Sigrun Ingvarsdottir, Vigdis Stefansdottir, Helga Gottfredsdottir
INTRODUCTION: Prenatal screening in early pregnancy is offered to all women in Iceland. In the case of an increased risk, invasive diagnostic test with 1% risk of fetal loss is offered. Recent developments include an exploration of a cell free fetal DNA in maternal plasma. The aim of this study was to explore factors that are of importance to pregnant women and professionals in fetal diagnosis. MATERIAL AND METHODS: A questionnaire incorporating a discrete choice experimental design was used...
June 2016: Læknablađiđ
https://www.readbyqxmd.com/read/27244688/impact-of-the-increased-adoption-of-prenatal-cfdna-screening-on-non-profit-patient-advocacy-organizations-in-the-united-states
#15
Stephanie Meredith, Christopher Kaposy, Victoria J Miller, Megan Allyse, Subhashini Chandrasekharan, Marsha Michie
The 'Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening' Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens...
August 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27241964/prenatal-diagnosis-of-congenital-adrenal-hyperplasia
#16
REVIEW
Mabel Yau, Ahmed Khattab, Maria I New
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care...
June 2016: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/27235911/chromosomal-microarrays-for-the-prenatal-detection-of-microdeletions-and-microduplications
#17
REVIEW
Karen Wou, Brynn Levy, Ronald J Wapner
Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes...
June 2016: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/27235909/cost-effectiveness-of-old-and-new-technologies-for-aneuploidy-screening
#18
REVIEW
Rachel G Sinkey, Anthony O Odibo
Cost-effectiveness analyses allow assessment of whether marginal gains from new technology are worth increased costs. Several studies have examined cost-effectiveness of Down syndrome (DS) screening and found it to be cost-effective. Noninvasive prenatal screening also appears to be cost-effective among high-risk women with respect to DS screening, but not for the general population. Chromosomal microarray (CMA) is a genetic sequencing method superior to but more expensive than karyotype. In light of CMAs greater ability to detect genetic abnormalities, it is cost-effective when used for prenatal diagnosis of an anomalous fetus...
June 2016: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/27211889/congenital-adrenal-hyperplasia-unresolved-issues
#19
Mabel Yau, Ahmed Khattab, Dix Poppas, Lucia Ghizzoni, Maria New
Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production...
2016: Frontiers of Hormone Research
https://www.readbyqxmd.com/read/27193446/single-molecule-targeted-sequencing-for-cancer-gene-mutation-detection
#20
Yan Gao, Liwei Deng, Qin Yan, Yongqian Gao, Zengding Wu, Jinsen Cai, Daorui Ji, Gailing Li, Ping Wu, Huan Jin, Luyang Zhao, Song Liu, Liangjin Ge, Michael W Deem, Jiankui He
With the rapid decline in cost of sequencing, it is now affordable to examine multiple genes in a single disease-targeted clinical test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing. Although there are fast sample preparation methods available in market, the library preparation process is still relatively complicated for physicians to use routinely. Here, we introduced an amplification-free Single Molecule Targeted Sequencing (SMTS) technology, which combined targeted capture and sequencing in one step...
2016: Scientific Reports
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