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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28695721/aortic-isthmus-shunt-dynamics-in-normal-and-complicated-monochorionic-pregnancies
#1
Viola Seravalli, Dana Block-Abraham, Cyrethia McShane, Sarah Millard, Ahmet Baschat, Jena Miller
OBJECTIVE: To study fetal aortic isthmus (AoI) shunt dynamics in monochorionic (MC) twins. METHODS: Normal and complicated MC pregnancies were prospectively enrolled. The relationship of isthmus flow index (IFI) with Doppler parameters of umbilical artery (UA), descending aorta (DAo), middle cerebral artery (MCA), and ductus venosus (DV), and with left and right ventricular cardiac output and stroke volume was studied. RESULTS: The IFI was obtained in 180 examinations from 48 pregnancies (24 twin-twin-transfusion syndrome, TTTS; 4 selective intrauterine growth restriction, sIUGR; 12 TTTS+sIUGR; 8 uncomplicated)...
July 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28695688/opening-pandora-s-box-ethical-issues-in-prenatal-whole-genome-and-exome-sequencing
#2
Ruth Horn, Michael Parker
OBJECTIVE: The development of genomic approaches to prenatal testing such as whole genome and exome sequencing offers the potential for a better understanding of prenatal structural anomalies in the fetus and ultimately for improved patient care and more informed reproductive decision making. In addition to the scientific and clinical challenges of achieving this, the introduction of new reproductive technologies also presents a number of ethical problems. The successful and appropriate development and introduction of prenatal genomics into clinical practice requires these problems to be identified, understood and carefully analysed in the development of models of good ethical practice...
July 10, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28695637/antenatal-management-of-fetal-intrapericardial-teratoma-a-systematic-review
#3
REVIEW
Ahmed A Nassr, Sherif A Shazly, Shaine A Morris, Nancy Ayres, Jimmy Espinoza, Hadi Erfani, Olutoyin A Olutoye, Sara K Sexson, Oluyinka O Olutoye, Charles D Fraser, Michael A Belfort, Alireza A Shamshirsaz
OBJECTIVES: The purpose of this systematic review is to provide a comprehensive overview on the clinical course, perinatal outcome and effectiveness of antenatal management options for pericardial teratoma. METHODS: A comprehensive search including Ovid MEDLINE, Ovid EMBASE, and Scopus was conducted from inception to September 2016. All studies that reported the antenatal course of pericardial teratoma in singleton or twin gestations were considered eligible Standardized forms were used for data abstraction by two independent reviewers...
July 10, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28688121/assessing-the-cost-of-implementing-the-2011-society-of-obstetricians-and-gynecologists-of-canada-and-canadian-college-of-medical-genetics-practice-guidelines-on-the-detection-of-fetal-aneuploidies
#4
Margaret Lilley, Stacey Hume, Nina Karpoff, Georges Maire, Sherry Taylor, Robert Tomaszewski, Maisa Yoshimoto, Susan Christian
BACKGROUND: The Society of Obstetricians and Gynecologists of Canada (SOGC) and the Canadian College of Medical Genetics (CCMG) published guidelines, in 2011, recommending replacement of karyotype with QF-PCR when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of QF-PCR as a stand-alone test. RESULTS: A total of 658 samples were received between April 1, 2014 and August 31, 2015: 576 amniocentesis samples and 82 CVS...
July 8, 2017: Prenatal Diagnosis
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
#5
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
#6
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/28685505/expanded-carrier-screening-for-monogenic-disorders-where-are-we-now
#7
Davit Chokoshvili, Danya Vears, Pascal Borry
BACKGROUND: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests. METHODS: To identify relevant ECS providers, we employed a multi-step approach, which included online searching, review of the recent literature, and consultations with researchers familiar with the current landscape of ECS...
July 6, 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
#8
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/28677115/amniocentesis-for-prenatal-diagnosis-of-cmv-challenging-the-21-weeks-threshold
#9
M Enders, A Daiminger, S Exler, G Enders
No abstract text is available yet for this article.
July 4, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28675493/quantitation-of-nasal-development-in-the-early-prenatal-period-using-geometric-morphometrics-and-mri-a-new-insight-into-the-critical-period-of-binder-phenotype
#10
Motoki Katsube, Shigehito Yamada, Reina Miyazaki, Yutaka Yamaguchi, Haruyuki Makishima, Tetsuya Takakuwa, Akira Yamamoto, Yosuke Fujii, Naoki Morimoto, Tsuyoshi Ito, Hirohiko Imai, Shigehiko Suzuki
OBJECTIVES: Disturbance of the development of the nasal septum in the early prenatal period causes congenital facial anomalies characterized by a flat nose and defects of the anterior nasal spine (ANS), such as Binder phenotype. The present research aimed to assess the development of the nasal septum and the ANS with growth in the early prenatal period. METHODS: Magnetic resonance images were obtained from 56 specimens. Mid-sagittal images were analyzed using geometric morphometrics for the development of the nasal septum, and angle analysis was performed for the development of the ANS...
July 4, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28671725/trisomy-13-confined-placental-mosaicism-is-there-an-increased-risk-of-gestational-hypertensive-disorders
#11
Sarah K Dotters-Katz, Emily Hardisty, Erin Campbell, Neeta Vora
No abstract text is available yet for this article.
July 3, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28664994/trauma-induces-overexpression-of-cx43-in-human-fetal-membrane-defects
#12
David W Barrett, Aumie Kethees, Christopher Thrasivoulou, Alvaro Mata, Alex Virasami, Neil J Sebire, Alex C Engels, Jan A Deprest, David L Becker, Anna L David, Tina T Chowdhury
OBJECTIVE: We developed an in vitro model to examine whether trauma induces connexin 43 (Cx43) expression and collagen organisation in the amniotic membrane (AM) of fetal membrane (FM) defects. METHOD: Term human FM were traumatised in vitro. Cell morphology and Cx43 was examined in the wound edge AM by immunofluorescence (IMF) confocal microscopy and compared to control AM. Collagen microstructure was examined by Second Harmonic Generation (SHG) imaging. Cell viability was assessed with calcein and ethidium staining...
June 30, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28656648/prenatal-incision-of-ureterocele-causing-bladder-outlet-obstruction-a-multicenter-case-series
#13
Gihad Chalouhi, Anne-Maude Morency, Roland De Vlieger, José Maria Martinez, Thomas Blanc, Ryan Hodges, Alexandra Gueneuc, Greg Ryan, Jan Deprest, Eduard Gratacos, Yves Ville
We reviewed data from a cohort of fetuses with ureterocele diagnosed and operated prenatally in four fetal therapy centers. Inclusion criteria were: (1)ureterocele confirmed on detailed fetal ultrasound examination, (2)absence of additional fetal malformations (3)fetal intervention to decompress the ureterocele with local institutional review boards' approval. Data on sonographic follow-up, obstetrical, neonatal outcome and postnatal evaluation were collected. Ten cases of prenatally treated ureterocele are described...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28654736/maternal-chromosome-xp-deletion-identified-by-prenatal-cell-free-dna-screening
#14
Bernard J Ilagan, Megan D Maxwell, Barbra M Fisher, Jeri Milanovich, Renius Owen, Ben Anderson, Ke Zhang, Charles M Strom
No abstract text is available yet for this article.
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28654732/age-based-differences-in-the-predictive-accuracy-of-a-one-size-fits-all-risk-cutoff-value-in-prenatal-integrated-screening-for-down-syndrome
#15
Jia Yan, Turgay Ayer, Pinar Keskinocak, Aaron Caughey
OBJECTIVE: To assess variation in detection and false positive rates and adverse pregnancy outcomes across different age groups when a one-size-fits-all risk-cutoff value, such as 1/270, is used in integrated screening for Down syndrome. METHOD: A Monte Carlo simulation was utilized to estimate the detection and false positive rates as well as adverse pregnancy outcomes. RESULTS: Using a one-size-fits-all risk-cutoff value, such as 1/270, can result in considerably high variations in detection and false positive rates across maternal ages, and lead to a higher than the minimum possible total number of adverse outcomes...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#16
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/28639332/the-natural-history-of-fetal-diagnosed-isolated-ventricular-septal-defect
#17
Young-Sun Cho, So-Eun Park, Soo-Kyung Hong, Na-Yeong Jeong, Eun-Young Choi
OBJECTIVE: This study was undertaken to clarify the natural course of ventricular septal defect, and to find an index that would help in prenatal counseling. METHODS: Between January 2010 and December 2014, 18188 fetuses underwent echocardiographic examinations. Of these, 228 isolated ventricular septal defect cases were retrospectively reviewed. RESULTS: In this retrospective study, the incidence of isolated ventricular septal defect was 1...
June 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28635180/renal-vascularization-indexes-and-fetal-hemodynamics-in-fetuses-with-growth-restriction
#18
Giovana Farina Doro, Janaína Campos Senra, Agatha Sacramento Rodrigues, Seizo Miyadahira, Renata Lopes Ribeiro, Rossana Pulcinelli Vieira, Lisandra Stein Bernardes
OBJECTIVE: To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD: Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were used to determine the renal vascular indexes and fetal and placental hemodynamics in fetuses below the 10(th) percentile for fetal weight. Partial correlation analysis (controlled for renal depth and gestational age) was performed...
June 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28626857/fetal-intracranial-hemorrhage-role-of-fetal-mri
#19
Laura Sanapo, Matthew T Whitehead, Dorothy I Bulas, Homa K Ahmadzia, Lindsay Pesacreta, Taeun Chang, Adre du Plessis
OBJECTIVE: To date, prenatal diagnosis of intracranial hemorrhage (ICH) is mainly based on ultrasound (US) findings rather than magnetic resonance imaging (MRI). We aimed to: investigate the role of MRI in the diagnosis of fetal ICH among pregnancies referred to fetal MRI and to characterize the topography of fetal ICH using MRI. METHODS: We retrospectively identified fetal ICH cases diagnosed by MRI from 2008-2015, and reviewed their prenatal and postnatal medical records...
June 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28623846/sonocad-a-software-to-solve-the-dilemma-of-the-prenatal-diagnosis-of-fetal-syndromes
#20
Mahmoud Abdelnaby, Abdulmeneam Fawzi, Manal Swelem, Hisham Elgammal, Hamdy Elgammal
OBJECTIVE: The aim of this work is to develop an efficient, user friendly, time saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. MATERIALS AND METHOD: SonoCAD (Sonographyic Computer Assisted Diagnosis) program was developed in 4 phases. Phase I, data gathering phase. Phase II the software development phase in which the source code of the software was developed. Phase III, system testing phase, was divided into 2 steps...
June 17, 2017: Prenatal Diagnosis
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