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prenatal screening aneuploidy

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https://www.readbyqxmd.com/read/29055174/maternal-outcomes-in-first-and-second-trimester-termination-of-pregnancy-which-are-the-risk-factors
#1
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
#2
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
#3
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 (cffDNA) 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, has 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 post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, And 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
#11
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
https://www.readbyqxmd.com/read/28913147/summary-of-2185-prenatal-invasive-procedures-in-a-single-center-a-retrospective-analysis
#12
Hüseyin Çağlayan Özcan, Mete Gürol Uğur, Seyhun Sucu, Aynur Mustafa, Neslihan Bayramoğlu Tepe, Özcan Balat
OBJECTIVE: To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS: This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28892219/offering-non-invasive-prenatal-testing-as-part-of-routine-clinical-service-can-high-levels-of-informed-choice-be-maintained
#13
Celine Lewis, Melissa Hill, Lyn S Chitty
OBJECTIVES: To assess rates of informed choice among women offered NIPT for aneuploidy as part of routine clinical care. METHODS: A cross-sectional survey was conducted across six antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing or no further testing. Pre-test counselling was delivered as part of routine care by the local maternity team. Women were given a questionnaire containing a measure of informed choice immediately after pre-test counselling...
September 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28880692/clinical-outcome-of-pregnancies-with-the-prenatal-double-bubble-sign-a-five-year-experience-from-one-single-centre-in-mainland-china
#14
Yu Yang, Ping He, Dong-Zhi Li
The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks...
September 7, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28873375/non-invasive-prenatal-testing-for-sex-chromosome-aneuploidy-in-routine-clinical-practice
#15
Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies...
September 6, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28872762/communicating-risk-with-aneuploidy-screening-things-are-never-as-simple-as-they-appear-to-be
#16
Julian Robinson, Louise Wilkins-Haug
The introduction of a new technology, such as an aneuploidy screening test, is an opportunity for advancement, but it is also a risk for misuse and harm. The enthusiasm of researchers, prospective parents, and the biomedical industry should be balanced with a measured approach. Optimal counseling for a particular screening or prenatal diagnostic test to be chosen, or declined, involves a comprehensive understanding of the available tests, the conditions to be screened for, time, and good communication skills...
September 5, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28870159/obstetric-professionals-perceptions-of-non-invasive-prenatal-testing-for-down-syndrome-clinical-usefulness-compared-with-existing-tests-and-ethical-implications
#17
Olivia Miu Yung Ngan, Huso Yi, Samuel Yeung Shan Wong, Daljit Sahota, Shenaz Ahmed
BACKGROUND: While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. METHODS: A cross-sectional survey among 327 obstetric professionals (237 midwives, 90 obstetricians) in Hong Kong...
September 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#18
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#19
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859766/no-348-joint-sogc-ccmg-guideline-update-on-prenatal-screening-for-fetal-aneuploidy-fetal-anomalies-and-adverse-pregnancy-outcomes
#20
Francois Audibert, Isabelle De Bie, Jo-Ann Johnson, Nanette Okun, R Douglas Wilson, Christine Armour, David Chitayat, Raymond Kim
OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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