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prenatal screening aneuploidy

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https://www.readbyqxmd.com/read/29458877/1p-deletion-syndrome-a-prenatal-diagnosis-characterized-by-an-abnormal-1st-trimester-combined-screening-test-yet-a-normal-nipt-result
#1
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#2
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#3
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29433355/what-would-be-missed-in-the-first-trimester-if-nuchal-translucency-measurement-is-replaced-by-cell-free-dna-foetal-aneuploidy-screening
#4
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#5
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29402153/psychological-factors-influencing-choice-of-prenatal-diagnosis-in-chinese-multiparous-women-with-advanced-maternal-age
#6
Bi-Heng Cheng, Jian-Hua Chen, Gao-Hua Wang
OBJECTIVES: To investigate the psychological predictors in Chinese multiparous pregnant women of advanced maternal age (AMA) for choosing aneuploidy screening or diagnostic testing. METHODS: A total of 84 pregnant women of AMA were consecutively enrolled from Renming Hospital, Wuhan University. All participants completed three questionnaires: Zung Self-Rating Anxiety Scale (SAS), Zung Self-Rating Depression Scale (SDS), and Pregnancy Stress Rating Scale (PSRS). Demographic information and the choice of noninvasive prenatal testing (NIPT) versus invasive prenatal diagnosis (PND) were also collected...
February 5, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29396076/-what-are-the-real-purpose-and-scope-of-screening-for-aneuploidy
#7
T Quibel, P Rozenberg
In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum α-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%...
January 27, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#8
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell-free maternal plasma DNA in the maternal blood plasma. However, false positive and negative non-invasive prenatal testing (NIPT) results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA screening...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#9
EDITORIAL
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29361931/obstetrical-provider-knowledge-and-attitudes-towards-cell-free-dna-screening-results-of-a-cross-sectional-national-survey
#10
Wilson V Chan, Jo-Ann Johnson, R Douglas Wilson, Amy Metcalfe
BACKGROUND: Cell-free DNA (cfDNA) screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities. It is unclear how much knowledge regarding cfDNA screening obstetrical providers possess which has important implications for the quality and content of the informed consent patients receive. METHODS: A survey was designed to assess obstetrical provider knowledge and attitudes towards cfDNA screening and distributed online through the Society of Obstetricians & Gynecologists of Canada (SOGC)...
January 23, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#11
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#12
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#13
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29296790/maternal-iamp21-acute-lymphoblastic-leukemia-detected-on-prenatal-cell-free-dna-genetic-screening
#14
Marlise R Luskin, Marie N Discenza, Sarah Rae Easter, Paola Dal Cin, Renius Owen, Bernard Ilagan, Meredith Masiello, Andrew A Lane
cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy.Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.
August 22, 2017: Blood Advances
https://www.readbyqxmd.com/read/29275822/screening-for-fetal-growth-restriction-using-fetal-biometry-combined-with-maternal-biomarkers
#15
REVIEW
Francesca Gaccioli, Irving L M H Aye, Ulla Sovio, D Stephen Charnock-Jones, Gordon C S Smith
Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Systematic reviews of randomized controlled trials do not demonstrate any benefit from universal ultrasound screening for fetal growth restriction in the third trimester, but the evidence base is not strong...
December 22, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29216009/the-first-trimester-aneuploidy-biochemical-markers-in-ivf-icsi-patients-have-no-additional-benefit-compared-to-spontaneous-conceptions-in-the-prediction-of-pregnancy-complications
#16
Iwona Szymusik, Przemyslaw Kosinski, Katarzyna Kosinska-Kaczynska, Damian Warzecha, Anetta Karwacka, Bartosz Kaczynski, Miroslaw Wielgos
OBJECTIVES: The aim of this study was to determine if the levels of biochemical aneuploidy markers in in vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) pregnancies differ from those in spontaneous pregnancies and to verify if biochemical markers could predict pregnancy outcome in IVF/ICSI gestations. METHODS: This was a prospective observational study performed in a group of 551 patients who underwent a combined first trimester prenatal screening (ultrasound scan and serum markers)...
December 7, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#17
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#18
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29193652/decisions-about-aneuploidy-screening-why-women-s-reasons-are-important
#19
Dafina Petrova, Rocio Garcia-Retamero
Several tests exist that can help detect Down syndrome and other chromosomal disorders during the first weeks of pregnancy. Non-invasive prenatal testing (NIPT) is gaining popularity because of its improved accuracy over traditional screening methods and its improved safety compared to invasive tests that carry some risk of miscarriage. In a recent study conducted in Hong Kong, Cheng et al. recruited women at high or intermediate risk of Down syndrome according to their 1st or 2nd trimester screening. This article is protected by copyright...
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29179272/-analysis-of-non-invasive-prenatal-screening-detection-in-fetal-chromosome-aneuploidy
#20
A J Cai, C F Zhu, S W Xue, S Y Cui, S Z Qu, N Liu, X D Kong
Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies. Methods: Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1(st), 2015 to March 15(th), 2016. Among them, 5 230 (93.96%, 5 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 566) were twin pregnancies. In singleton pregnancies, 1 809 (34.59%, 1 809/5 230) were women with advanced maternal age, and 3 421 (65...
November 25, 2017: Zhonghua Fu Chan Ke za Zhi
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