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Prenatal Aneuploidy Screening

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https://www.readbyqxmd.com/read/29156453/use-of-genetic-testing-after-abnormal-screening-ultrasound-a-descriptive-cohort-study
#1
Alessandra J Ainsworth, Michelle A Holman, Elisabeth Codsi, Myra Wick
BACKGROUND/AIMS: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. METHODS: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. RESULTS: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound...
November 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/29128491/screening-for-fetal-chromosomal-and-subchromosomal-disorders
#2
REVIEW
Sarah Harris, Dallas Reed, Neeta L Vora
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders...
November 8, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#3
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#4
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29111614/has-non-invasive-prenatal-testing-impacted-termination-of-pregnancy-and-live-birth-rates-of-infants-with-down-syndrome
#5
Melissa Hill, Angela Barrett, Mahesh Choolani, Celine Lewis, Jane Fisher, Lyn S Chitty
BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS). AIM: Investigate the impact of NIPT on termination and live birth rates for DS. METHODS: Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29110322/in-silico-size-selection-is-effective-in-reducing-false-positive-nips-cases-of-monosomy-x-that-are-due-to-maternal-mosaic-monosomy-x
#6
Jekaterina Shubina, Dmitry Yu Trofimov, Ilya Yu Barkov, Olga K Stupko, Andrey Yu Goltsov, Irina S Mukosey, Nana K Tetruashvili, Lyudmila V Kim, Vladimir A Bakharev, Natalia A Karetnikova, Taisya O Kochetkova, Regina V Krasheninnikova, Andrey A Bystritskiy, Gennady T Sukhikh
OBJECTIVES: The aim of this study was to establish maternal contribution to false positive NIPS results and develop the method to distinguish maternal and fetal origin of high-risk monosomy X noninvasive prenatal DNA screening (NIPS) calls including mosaic maternal cases. METHOD: A total of 906 women carrying singleton pregnancies have been recruited. Maternal plasma DNA semiconductor massive parallel sequencing was performed to detect common aneuploidies. For the case of high monosomy X risk call, analysis method to distinguish fetal and maternal monosomy X have been additionally applied...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29097507/noninvasive-prenatal-diagnosis-of-single-gene-disorders-by-use-of-droplet-digital-pcr
#7
Joan Camunas-Soler, Hojae Lee, Louanne Hudgins, Susan R Hintz, Yair J Blumenfeld, Yasser Y El-Sayed, Stephen R Quake
BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS: We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma...
November 2, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29080223/comparison-of-first-tier-cell-free-dna-screening-for-common-aneuploidies-with-conventional-publically-funded-screening
#8
Sylvie Langlois, JoAnn Johnson, François Audibert, Jean Gekas, Jean-Claude Forest, André Caron, Keli Harrington, Melanie Pastuck, Hasna Meddour, Amélie Tétu, Julian Little, François Rousseau
OBJECTIVE: This study evaluates the impact of offering cell-free DNA (cfDNA) screening as a first-tier test for trisomies 21 and 18. METHODS: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies. RESULTS: A total of 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate (FPR) of 5...
October 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29059453/what-s-new-in-prenatal-genetics-a-review-of-current-recommendations-and-guidelines
#9
Annalisa L Post, Amy T Mottola, Jeffrey A Kuller
Importance: The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice. Objective: We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines. Evidence Acquisition: We performed a descriptive review of 8 recently published (2016-2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29055174/maternal-outcomes-in-first-and-second-trimester-termination-of-pregnancy-which-are-the-risk-factors
#10
Giulia Garofalo, Anna Garofalo, Olga Sochirca, Maria Grazia Alemanno, Eleonora Pilloni, Marilisa Biolcati, Elisabetta Muccinelli, Elsa Viora, Tullia Todros
AIMS: To evaluate maternal complications of first trimester and second trimester termination of pregnancy (TOP) performed after first or second trimester positive prenatal diagnosis (PD). RESULTS: We performed a retrospective study from January 2007 to December 2011, on 844 patients, who underwent a TOP after positive amniocentesis or chorionic villus sampling (CVS) for foetal aneuploidies, performed for maternal age ≥35 years of age, positive prenatal screening (PS) or for genetic reasons...
October 21, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29039166/-detection-of-cell-free-fetal-dna-in-maternal-plasma-for-noninvasive-prenatal-screening-of-fetal-chromosomal-aneuploidies-in-women-of-advanced-maternal-age
#11
Hui Zhu, Zhengyou Miao, Yeqing Qian, Hongge Li, Jinglei Jin, Jing He, Minyue Dong
OBJECTIVE: To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. METHODS: A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#12
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B Van Den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management...
October 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29030960/cell-free-dna-noninvasive-prenatal-screening-for-aneuploidy-versus-conventional-screening-a-systematic-review-of-economic-evaluations
#13
REVIEW
L Nshimyumukiza, S Menon, H Hina, F Rousseau, D Reinharz
Although non-invasive prenatal testing (NIPT) for aneuploidies using cell free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between 1st January 2009 and 1st January 2016 where NIPT was compared to the current screening practices consisting of biochemical markers with or without nuchal translucency (NT) and/or maternal age). We included 16 studies and we found that, at current level of NIPT prices, contingent NIPT provide the best value for money, especially for publicly funded screening programs...
October 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29024868/introduction-of-non-invasive-prenatal-testing-as-a-first-tier-aneuploidy-screening-test-a-survey-among-dutch-midwives-about-their-role-as-counsellors
#14
Linda Martin, Janneke T Gitsels-van der Wal, Marjon A de Boer, Meredith Vanstone, Lidewij Henneman
In 2014, non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 was added to the Dutch prenatal screening program as part of the TRIDENT study. Most (85%) pregnant Dutch women are counselled for prenatal aneuploidy screening by primary care midwives. This will remain when NIPT is implemented as a first-tier screening test. We therefore investigated midwife counsellors': 1) Knowledge about NIPT; 2) Attitudes towards NIPT as first-tier screening test; and 3) Experiences with informing clients about NIPT...
September 24, 2017: Midwifery
https://www.readbyqxmd.com/read/28981949/-result-of-prenatal-diagnosis-for-151-high-risk-women-by-noninvasive-prenatal-screening-based-on-high-throughput-sequencing
#15
Yifang Jia, Yan Zhang, Wanxiao Hao, Donghong Shi, Jinlai Meng, Heyong Zhao, Yan Lian, Luwen Xie, Xietong Wang
OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28978305/implementing-non-invasive-prenatal-testing-into-publicly-funded-antenatal-screening-services-for-down-syndrome-and-other-conditions-in-aotearoa-new-zealand
#16
Sara Filoche, Fiona Cram, Bev Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. MAIN ISSUE: The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country...
October 4, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28950403/challenges-in-non-invasive-prenatal-screening-for-sub-chromosomal-copy-number-variations-using-cell-free-dna
#17
REVIEW
Henna V Advani, Angela N Barrett, Mark I Evans, Mahesh Choolani
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values...
September 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28948585/-innovative-prenatal-testing-clinical-applications-and-ethical-considerations
#18
Mei-Chih Huang, Shio-Jean Lin, Chih-Ling Chen, Tzu-Jung Huang
The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy...
October 2017: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/28940600/chromosomal-aneuploidies-and-copy-number-variations-in-posterior-fossa-abnormalities-diagnosed-by-prenatal-ultrasonography
#19
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia...
September 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#20
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
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