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https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#1
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#2
Hong Liao, Shanling Liu, He Wang
OBJECTIVE: The objective of this study was to review the published studies of non-invasive prenatal screening (NIPS) in twin pregnancies and to evaluate the performance for screening fetal trisomies 21, 18, and 13 in twin pregnancies. METHOD: Ten eligible studies were included in this meta-analysis. Data analysis, heterogeneity exploring, meta-regression and subgroup analysis were all conducted with Meta-DiSc 1.4. Quality assessments were carried out with the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2)...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28727133/is-unexplained-elevated-maternal-serum-alpha-fetoprotein-still-important-predictor-for-adverse-pregnancy-outcome
#3
Derya Başbuğ, Alper Başbuğ, Cavidan Gülerman
OBJECTIVES: The purpose of this study was to determined the predictive value of maternal serum alpha-fetoprotein (MSAFP) as a marker for adverse pregnancy outcomes. MATERIAL AND METHODS: This study was carried out at Dr. Zekai Tahir Burak Women's Health Education and Research Hospital between 2009 and 2010. This study included a total of 1,177 pregnant women, including 170 in the study group and 1,007 in the control group. Pregnancy outcomes and characteristics were analyzed with regard to the MSAFP value...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28726258/correlation-between-z-score-fetal-fraction-and-sequencing-reads-in-non-invasive-prenatal-testing
#4
Marie Balslev-Harder, Stine R Richter, Susanne Kjaergaard, Peter Johansen
No abstract text is available yet for this article.
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28702698/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-chromosomal-abnormalities
#5
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening...
July 12, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28698954/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-other-major-defects-and-pregnancy-complications
#6
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester screening...
July 11, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28686807/systematic-review-and-meta-analysis-of-non-invasive-prenatal-dna-testing-for-trisomy-21-implications-for-implementation-in-china
#7
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of MPS technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. METHODS: Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews and three major Chinese databases were performed to identify all the peer-reviewed articles published between January 1st, 2011 and October 15th, 2016...
July 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28686291/gonadal-mosaicism-and-non-invasive-prenatal-diagnosis-for-reassurance-in-sporadic-paternal-age-effect-pae-disorders
#8
Andrew O M Wilkie, Anne Goriely
No abstract text is available yet for this article.
July 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28685502/the-impact-of-non-invasive-prenatal-testing-on-anxiety-in-women-considered-at-high-or-low-risk-for-aneuploidy-after-combined-first-trimester-screening
#9
Zara Richmond, Ron Fleischer, Maya Chopra, Jason Pinner, Mario D'Souza, Yelena Fridgant, Jonathan Hyett
OBJECTIVE: The aim of this study was to (1) examine the psychological impact of non-invasive prenatal testing (NIPT) in women with a high-risk (≥1:300) and low-risk (≤1:301) result on combined First Trimester Screening (cFTS); and (2) to examine factors influencing anxiety and decision-making in both risk populations. METHOD: Questionnaires and structured interviews were administered to low (n = 50) and high (n =63) risk women at the time of NIPT blood draw (point A) and again at least one week after receiving their NIPT result (point B)...
July 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681452/views-of-the-obstetric-profession-on-non-invasive-prenatal-testing-in-aotearoa-new-zealand-a-national-survey
#10
Sara K Filoche, Beverley Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Aotearoa New Zealand (NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service. AIM: To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. METHODS: An anonymous online survey combining Likert scales and free text was designed to assess current practice, knowledge, ethical considerations, counselling and views toward public funding of NIPT...
July 6, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28667577/the-role-of-beaming-and-digital-pcr-for-multiplexed-analysis-in-molecular-oncology-in-the-era-of-next-generation-sequencing
#11
Jérôme Alexandre Denis, Erell Guillerm, Florence Coulet, Annette K Larsen, Jean-Marc Lacorte
BEAMing polymerase chain reaction (PCR) and digital PCR (dPCR) are used for robust and accurate quantification of nucleic acids. These methods are particularly well suited for the identification of very small fractions (<1%) of variant copies such as the presence of mutant genes in a predominantly wild-type background. BEAMing and dPCR are increasingly used in diverse fields including bacteriology, virology, non-invasive prenatal testing, and oncology, in particular for the molecular analysis of liquid biopsies...
June 30, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28667567/women-s-experience-with-non-invasive-prenatal-testing-and-emotional-well-being-and-satisfaction-after-test-results
#12
Rachèl V van Schendel, G C M Lieve Page-Christiaens, Lean Beulen, Caterina M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H W Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28663415/non-invasive-prenatal-testing-use-of-cell-free-fetal-dna-in-down-syndrome-screening
#13
EDITORIAL
Imran Rafi, Melissa Hill, Judith Hayward, Lyn S Chitty
No abstract text is available yet for this article.
July 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#14
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van den Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Twenty-nine studies were identified, with diagnostic rates varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28647786/mosaic-embryo-transfer-after-oocyte-in-vitro-maturation-in-combination-with-non-invasive-prenatal-testing-nipt-first-report-of-a-euploid%C3%A2-live-birth
#15
Naomi Inoue, Rosmary Lopez, Andrea Delgado, Denisse Nuñez, Jimmy Portella, Luis Noriega-Hoces, Luis Guzmán
PURPOSES: The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). METHODS: Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied. RESULTS: One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#16
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#17
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#18
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#19
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28586143/current-status-of-non-invasive-prenatal-testing-in-japan
#20
Osamu Samura, Akihiko Sekizawa, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazuhisa Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Yasuhiro Kido, Toshiyuki Fukao, Norio Miharu, Takeshi Nagamatsu, Atsushi Watanabe, Naoki Hamajima, Masaya Hirose, Ayako Sanui, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
AIM: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. METHODS: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses...
June 6, 2017: Journal of Obstetrics and Gynaecology Research
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