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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#1
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#2
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28768058/prenatal-influence-of-congenital-heart-defects-on-trajectories-of-cortical-folding-of-the-fetal-brain-using-three-dimensional-ultrasound
#3
Irene V Koning, Anne W van Graafeiland, Irene A L Groenenberg, Sofie C Husen, Attie T J I Go, Jeroen Dudink, Sten P Willemsen, Jerome M J Cornette, Régine P M Steegers-Theunissen
OBJECTIVE: To investigate the prenatal influence of congenital heart defects (CHD) on trajectories of fetal cortical folding using three-dimensional ultrasound (3D-US). METHOD: We included 20 CHD fetuses and 193 controls for studying the fetal brain at 22, 26 and 32 weeks gestational age (GA). The Sylvian, insula and parieto-occipital fissure (POF) depths were measured using 3D-US and reliability was evaluated. Doppler indices of the umbilical artery and middle cerebral artery were measured to calculate the cerebro-placental ratio (CPR)...
August 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28753739/z-scores-for-fetal-left-atrial-size-and-left-atrium-descending-aorta-distance-in-fetuses-with-isolated-total-anomalous-pulmonary-venous-connection
#4
Yan Kai Mao, Bo Wen Zhao, Feng Hua Zheng, Bei Wang, Xiao Hui Peng, Ran Chen, Mei Pan
OBJECTIVES: To construct Z-score reference ranges for fetal left atrial (LA) size and left atrium-descending aorta distance (LDD or 'post-LA distance') at 20 to 40 weeks' gestation and to compare these parameters between fetuses with isolated total anomalous pulmonary venous connection (TAPVC) and normal fetuses. METHODS: 333 normal singleton fetuses from 20 to 40 week's gestation were enrolled in a prospective cross-sectional study . Six cardiovascular dimensions were obtained by two-dimensional echocardiography...
July 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28753736/can-quantity-of-amniotic-fluid-reliably-predict-postnatal-renal-function-in-boys-with-posterior-urethral-valves-a-decision-curve-analysis
#5
Luke Harper, Alice Waubant, Julien Vignes, Sara Amat, Eric Dobremez, Yan Lefevre, Cyril Ferdynus
OBJECTIVE: Prenatal management of male fetuses with suspected posterior urethral valves depends on reliable markers for postnatal long-term renal function. Whether ultrasound parameters, including the presence or absence of oligohydramnios, are reliable remains the subject of debate. We decided to evaluate the reliability of quantity of amniotic fluid to predict postnatal renal function using decision curve analysis (DCA), a method for evaluating the clinical utility of a diagnostic test...
July 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28753246/outcome-of-prenatally-diagnosed-congenital-lung-anomalies-in-the-north-of-england-a-review-of-228-cases-to-aid-in-prenatal-counselling
#6
Lesley Walker, Kelly Cohen, Judith Rankin, David Crabbe
OBJECTIVE: To describe data on congenital lung anomalies identified on antenatal ultrasound from two centres in the North of England. METHOD: This retrospective case series includes all cases notified to the Northern Congenital Abnormality Survey (NorCAS) from 1990 - 2010 and to Leeds Regional Fetal Medicine Unit (LFMU) 2000 - 2015. RESULTS: There were a total of 228 cases, 101 from NorCAS and 127 from LFMU. 85% were unilateral congenital pulmonary airway malformation (CPAMs), 2% bilateral CPAMs and 11% bronchopulmonary sequestrations...
July 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#7
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/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#8
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28726258/correlation-between-z-score-fetal-fraction-and-sequencing-reads-in-non-invasive-prenatal-testing
#9
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/28695721/aortic-isthmus-shunt-dynamics-in-normal-and-complicated-monochorionic-pregnancies
#10
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, middle cerebral artery, and ductus venosus 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; and 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
#11
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/prenatal-management-of-fetal-intrapericardial-teratoma-a-systematic-review
#12
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 prenatal 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 prenatal 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
#13
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
#14
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of massive parallel sequencing (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 1 January 2011 and 15 October 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
#15
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
#16
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
#17
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-cytomegalovirus-infection-challenging-the-21%C3%A2-weeks-threshold
#18
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
#19
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
#20
Sarah K Dotters-Katz, Emily Hardisty, Erin Campbell, Neeta Vora
No abstract text is available yet for this article.
July 3, 2017: Prenatal Diagnosis
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