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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/29966168/early-prenatal-diagnosis-of-lysosomal-storage-disorders-by-enzymatic-and-molecular-analysis
#1
Duan Li, Yunting Lin, Yonglan Huang, Wen Zhang, Minyan Jiang, Xiuzhen Li, Xiaoyuan Zhao, Huiying Sheng, Xi Yin, Xueying Su, Yongxian Shao, Zongcai Liu, Dongzhi Li, Fatao Li, Can Liao, Li Liu
OBJECTIVE: To report the 4-year experience of early prenatal diagnosis of lysosomal storage disorders (LSDs) at a center in mainland China. METHOD: Forty-seven pregnancies affected with LSDs were assed using enzymes and/or molecular studies. Prenatal studies were performed on 43 uncultured chorionic villi samples, 2 amniotic fluid samples and 2 umbilical cord blood samples. RESULTS: Of the 47 fetuses, 23 (48.9%) were determined to normal, 13 (27...
July 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29966046/prenatal-chromosomal-microarray-uptake-with-invasive-prenatal-diagnosis-how-many-patients-take-the-leap
#2
Claire N Singletary, Nevena Cvjetkovic Krstic, Jennifer L Czerwinski, Meagan Giles Choates, Chelsea Wagner
OBJECTIVE: Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a four-year time period. METHODS: Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information. RESULTS: Nine hundred forty-six diagnostic procedures were performed at our institution over a four-year time period including 259 CVS and 687 amniocentesis procedures...
July 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29966040/perinatal-outcomes-following-cell-free-dna-screening-in-32-000-women-clinical-follow-up-data-from-a-single-tertiary-center
#3
Dong Liang, Ying Lin, Fengchang Qiao, Hang Li, Yan Wang, Jingjing Zhang, An Liu, Xiuqing Ji, Dingyuan Ma, Jiang Tao, Ping Hu, Zhengfeng Xu
OBJECTIVE: Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD: 32431 cases were retrospectively reviewed. The screening was performed using a BGI protocol, and the cfDNA results were analyzed together with the pregnancy outcomes, confirmatory testing results, as well as ultrasound findings...
July 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29966037/genetic-profile-of-isolated-congenital-diaphragmatic-hernia-revealed-by-targeted-next-generation-sequencing
#4
Molka Kammoun, Erika Souche, Paul Brady, Jia Ding, Nele Cosemans, Eduard Gratacos, Koen Devriendt, Elisenda Eixarch, Jan Deprest, Joris Robert Vermeesch
BACKGROUND: Congenital diaphragmatic hernia (CDH) is characterized by a defective closure figof the diaphragm occurring as an isolated defect in 60% of cases. Lung size, liver herniation and pulmonary circulation are major prognostic indices. Isolated CDH genetics is heterogeneous and poorly understood. Whether genetic lesions are also outcome determinants has never been explored. OBJECTIVES: to identify isolated CDH genetic causes, to fine map the mutational burden and to search for a correlation between the genotype and the disease severity and outcome...
July 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29956348/rare-autosomal-trisomies-important-and-not-so-rare
#5
Fergus Scott, Michael Bonifacio, Rhiannon Sandow, Katie Ellis, Maria-Elisabeth Smet, Andrew McLennan
OBJECTIVE: Non-invasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. METHODS: A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. RESULTS: There were 28 RATs identified in 23,388 samples (1 in 835), the most common being trisomy 7 (n=6), followed by trisomy 16 (n=4) and trisomy 22 (n=3)...
June 28, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29956347/echocardiographic-predictors-of-neonatal-illness-severity-in-fetuses-with-critical-left-heart-obstruction-with-intact-or-restrictive-atrial-septum
#6
Laura Gellis, Monika Drogosz, Minmin Lu, Lynn A Sleeper, Henry Cheng, Catherine Allan, Audrey C Marshall, Wayne Tworetzky, Kevin G Friedman
BACKGROUND: Neonates with critical left heart obstruction and intact or restrictive atrial septum (IAS or RAS) are at risk for hypoxia within hours of birth and remain a group at high risk for mortality. METHODS: Prenatally diagnosed fetuses with critical left heart obstruction and IAS or RAS with follow-up from 1/1/2005-2/14/2017 were included. Primary outcome was a composite measure of severe neonatal illness (pH <7.15, venous pH <7.10, bicarbonate <16 mmol/L, lactic acid >5 mmol/L or median oxygen saturation <60% within 2 hours of birth)...
June 28, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29956346/congenital-diaphragmatic-hernia-has-a-better-prognosis-when-associated-with-a-hernia-sac
#7
Hanane Bouchghoul, Oriane Marty, Virginie Fouquet, Anne-Gaël Cordier, Marie-Victoire Senat, Julien Saada, Mostafa Mokhtari, Nolwenn Le Sache, Jelena Martinovic, Alexandra Benachi
OBJECTIVE: To evaluate neonatal mortality and morbidity up to 6 months in neonates with congenital diaphragmatic hernia (CDH) with or without a hernia sac. METHODS: 72 Cases of isolated CDH were included in a retrospective single-center study between January, 2010 and December, 2016. Hernia sac was defined at the time of surgery or at postmortem examination if the neonate died before surgery. RESULTS: 17 newborns (23.6%) had a hernia sac. Survival at 6 months was significantly greater for isolated CDH with a hernia sac: 100% versus 63...
June 28, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29956345/impacts-of-variants-of-uncertain-significance-on-parental-perceptions-of-children-after-prenatal-chromosome-microarray-testing
#8
Preeya Desai, Hannah Haber, Jessica Bulafka, Amita Russell, Rebecca Clifton, Julia Zachary, Seonjoo Lee, Tianshu Feng, Ronald Wapner, Catherine Monk, Wendy K Chung
OBJECTIVE: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well-being and perceptions of children's development. METHODS: Parents (n=138) of 83 children who underwent prenatal chromosomal microarray testing completed questionnaires assessing perception of children's development, parent-child attachment, parental mood, parenting competence, martial satisfaction, satisfaction with the decision to undergo testing, and attitudes about genetics at age 12 and/or 36 months...
June 28, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29952009/the-2017-malcolm-ferguson-smith-young-investigator-award
#9
EDITORIAL
Diana W Bianchi, Alessandro Ghidini, Brynn Levy, Jan Deprest, Tim Van Mieghem, Lyn S Chitty, Amanda J L McLean-Inglis
No abstract text is available yet for this article.
June 27, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29949202/fetal-cerebral-hemorrhage-due-to-x-linked-gata1-gene-mutation
#10
Hanane Bouchghoul, Chloé Quelin, Philippe Loget, Féréchté Encha-Razavi, Marie-Victoire Senat, Lorraine Maheut, Julie Galimand, Sophie Collardeau-Frachon, Lydie Da Costa, Jelena Martinovic
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the three male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss (es) and mild maternal thrombocytopenia are also present...
June 27, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29935118/interfering-effect-of-maternal-cell-contamination-on-invasive-prenatal-molecular-genetic-testing
#11
Katalin Koczok, Éva Gombos, László Madar, Olga Török, István Balogh
OBJECTIVE: Fetal samples obtained by invasive techniques are prone to maternal cell contamination (MCC) which may lead to false genotyping results. Our aim was to determine three molecular genetic tests' sensitivity to MCC. METHOD: By mixing experiments 1, 5, 10, 20, 30 and 40% MCC was simulated and significant MCC levels were determined for Sanger DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) and pyrosequencing, a next generation sequencing (NGS) method...
June 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29932217/microrna-200b-is-upregulated-in-the-lungs-of-fetal-rabbits-with-surgically-induced-diaphragmatic-hernia
#12
Mary Patrice Eastwood, Jan Deprest, Francesca Maria Russo, Hongmei Wang, Drew Mulhall, Barbara Iwasiow, Thomas H Mahood, Richard Keijzer
OBJECTIVE: Profiling of miR-200b expression and its targets (TGF-β2 and ZEB2) in the surgical rabbit CDH model before and after tracheal occlusion (TO). METHODS: Thirty-eight timed-pregnant rabbits had left DH creation on gestational day (GD) 23. On GD28, 17 randomly selected fetuses had TO. We harvested fetuses at GD23, GD28 or GD30. We calculated lung-to-body-weight ratios (LBWR), processing lungs for miR-200b in-situ hybridization (ISH) and RT-qPCR and evaluating effects on downstream targets TGF-β2 or ZEB2...
June 22, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29927492/congenital-aqueduct-stenosis-progressive-brain-findings-in-utero-to-birth-in-the-presence-of-severe-hydrocephalus
#13
Beth M Kline-Fath, Monica S Arroyo, Maria A Calvo-Garcia, Paul S Horn, Cameron Thomas
PURPOSE: To evaluate the effects of progressive hydrocephalus on the developing brain in a cohort of fetuses diagnosed with congenital aqueduct stenosis by comparing prenatal magnetic resonance imaging and postnatal imaging. METHODS: This IRB approved single center retrospective review of prenatally diagnosed children with congenital aqueduct stenosis interrogated changes in the brain between prenatal and postnatal imaging and analyzed statistics using SAS software package version 9...
June 21, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29927491/second-trimester-maternal-serum-screening-for-fetal-down-syndrome-as-a-screening-test-for-hemoglobin-bart-s-disease-a-prospective-population-based-study
#14
Chanane Wanapirak, Wirawit Piyamomgkol, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
PURPOSE: The purpose of this study is to determine the effectiveness of second-trimester maternal serum screening for Down syndrome as a screening test for fetal hemoglobin (Hb) Bart's disease among an unselected population. METHODS: A secondary analysis of a large prospective database (20 254 pregnancies) was conducted to compare the levels of maternal serum screening, alpha-fetoprotein (AFP), free beta-human chorionic gonadotropin, and unconjugated estriol between pregnancies with Hb Bart's disease and unaffected pregnancies...
June 21, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29924391/proposal-for-standardized-prenatal-ultrasound-assessment-of-the-fetus-with-congenital-diaphragmatic-hernia-by-the-european-reference-network-on-rare-inherited-and-congenital-anomalies-ernica
#15
REVIEW
Francesca Maria Russo, Anne-Gael Cordier, Luc De Catte, Julien Saada, Alexandra Benachi, Jan Deprest
Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in-utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates...
June 20, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29907962/prenatal-diagnosis-of-skeletal-dysplasias-using-a-targeted-skeletal-gene-panel
#16
Xinyao Zhou, Natalie Chandler, Linbei Deng, Jia Zhou, Meizhen Yuan, Luming Sun
OBJECTIVE: This study aimed to perform an accurate and precise diagnosis for foetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. METHODS: Proband-only targeted skeletal gene panel sequencing was performed on twelve families who had foetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The foetuses all had normal standard genetic testing yield (karyotyping and microarray)...
June 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29877592/fetal-mri-in-management-of-complicated-meconium-ileus-prenatal-and-surgical-imaging
#17
Peter F R Gunderman, Lindsey A G Shea, Brian W Gray, Brandon P Brown
OBJECTIVE: To review fetal MRI cases surgically proven to have meconium ileus (MI) and obstruction, describe the common fetal MRI findings that distinguish cases of complicated MI, and to compare these findings with surgical images and perinatal outcomes. METHOD: We performed a retrospective review of all fetal MRI examinations and the corresponding medical record from our tertiary care children's hospital over an 18-month period. Postnatal management and outcomes were reviewed for these patients, and those patients with surgical or postmortem diagnosis of complicated MI were included in the study...
June 7, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29876942/biology-of-human-primitive-erythroblasts-for-application-in-noninvasive-prenatal-diagnosis
#18
Zhou-Wei Huang, Chui-Yee Fong, Kalamegam Gauthaman, Ponnusamy Sukumar, Aniza P Mahyuddin, Angela N Barrett, Ariff Bongso, Mahesh Choolani
OBJECTIVE: Human primitive erythroblasts produced during early embryogenesis have been found in maternal circulation at early gestation and are considered good target cells for noninvasive prenatal diagnosis. We aimed to gain a better understanding of the biology of primitive erythroblasts and maximize their potential utility for noninvasive prenatal diagnosis. METHODS: Cells were obtained from first trimester human placental tissues. Biological properties including surface antigen composition, differentiation, proliferation, enucleation, and degeneration were studied as gestation progressed...
June 7, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29858521/the-third-ventricle-of-the-human-fetal-brain-normative-data-and-pathologic-correlation-a-3d-transvaginal-neurosonography-study
#19
Roee Birnbaum, Stefano Parodi, Gloria Donarini, Gabriella Meccariello, Ezio Fulcheri, Dario Paladini
OBJECTIVE: The objective of the study are to describe (a) the technical aspects and (b) the anatomical boundaries of the fetal third ventricle (3V) on the midsagittal sonographic view and to assess (c) different biometric parameters in normal and abnormal fetuses and (d) and their reproducibility. METHODS: This study included 67 normal and 50 CNS anomalies fetuses which include (1) obstructive severe ventriculomegaly (SVM; atrial width ≥ 15 mm), (2) moderate ventriculomegaly (10-14...
June 1, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29845619/trends-in-invasive-prenatal-diagnostic-testing-at-a-single-institution
#20
Adeola Awomolo, Kristy Palomares, Guadalupe Herrera Garcia, Todd Rosen, Christina Duzyj, Elena Ashkinadze
OBJECTIVE: As diagnostic methodologies evolve, we sought to determine whether invasive testing rates would decline, whether there would be a shift in indications for invasive testing, and whether the diagnostic yield would increase. METHODS: We conducted a retrospective, observational study from 2006 through 2015. We quantified the number of invasive procedures per year and examined what percentage of these procedures yielded abnormal results. We also examined the indications for testing and determined the trend of these indications during the study period...
May 29, 2018: Prenatal Diagnosis
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