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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/29338128/clinical-experience-of-laboratory-follow-up-with-non-invasive-prenatal-testing-using-cell-free-dna-and-positive-microdeletion-results-in-349-cases
#1
S Schwartz, M Kohan, R Pasion, P R Papenhausen, L D Platt
OBJECTIVE: Screening via non-invasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. METHODS: Patients that were screen positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q, who underwent diagnostic studies by either CVS or amniocentesis were evaluated...
January 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29338095/patient-controlled-tissue-collection-for-genetic-testing-after-early-pregnancy-loss-a-pilot-study
#2
Alexander Kucherov, Jessica Atrio, Zev Williams
OBJECTIVE: To determine how frequently and effectively products of conception can be obtained among women pursuing medical management of early pregnancy loss. METHODS: This pilot study was conducted to assess products of conception recovery outcomes for participants opting for medical management compared to women opting for surgical aspiration A tissue-collection kit was provided to women opting for medical management. Outcomes measures included successful collection of products of conception, quantity and integrity of DNA, and participant satisfaction with the process...
January 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29334402/noninvasive-reconstruction-of-placental-methylome-from-maternal-plasma-dna-potential-for-prenatal-testing-and-monitoring
#3
Kun Sun, Fiona M F Lun, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo, Hao Sun
OBJECTIVE: During human pregnancy, the DNA methylation of placental tissue is highly relevant to the normal growth and development of the fetus, therefore methylomic analysis of the placental tissue possesses high research and clinical value in prenatal testing and monitoring. Thus our aim is to develop an approach for reconstruction of the placental methylome, which should be completely noninvasive and achieve high accuracy and resolution. RESULTS: We propose a novel size-based algorithm, FEMER, to noninvasively reconstruct the placental methylome by genomewide bisulfite sequencing and size-based analysis of maternal plasma DNA...
January 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29327361/myocardial-injury-in-fetal-aortic-stenosis-insights-from-amniotic-fluid-analysis
#4
Kevin G Friedman, Lynn A Sleeper, Raina N Fichorova, Taylor Weilnau, Wayne Tworetzky, Louise E Wilkins-Haug
OBJECTIVE: Fetal aortic stenosis (AS) imposes pressure load on the developing left ventricle (LV) and leads to derangements in myocardial structure and function via mechanisms that are not well characterized. METHODS: We compared amniotic fluid NT-BNP and troponin levels in fetuses with AS prior to fetal valvuloplasty and controls. We estimated correlations between NT-BNP and fetal echo parameters and identify NT-BNP cutoff associated with biventricular outcome RESULTS: Median NT-BNP level was higher in fetal AS than controls (3858 vs 1737 pg/ml, p<0...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#5
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29322541/in-case-you-missed-it-the-prenatal-diagnosis-editors-bring-you-the-most-significant-advances-of-2017
#6
Brynn Levy, Diana W Bianchi, Tim Van Mieghem, Jan Deprest, Alessandro Ghidini, Lyn S Chitty
No abstract text is available yet for this article.
January 10, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29322534/current-controversies-in-prenatal-diagnosis-1-all-prenatally-detected-lower-urinary-tract-obstructions-should-be-shunted
#7
Roland Devlieger, R Douglas Wilson, Rodrigo Ruano
No abstract text is available yet for this article.
January 10, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#8
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29315677/acog-and-smfm-guidelines-for-prenatal-diagnosis-is-karyotyping-really-sufficient
#9
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker
OBJECTIVE: The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with one or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29315690/joint-position-statement-from-the-international-society-of-prenatal-diagnosis-ispd-the-society-of-maternal-fetal-medicine-smfm-and-the-perinatal-quality-foundation-pqf-on-the-use-of-genome-wide-sequencing-for-fetal-diagnosis
#10
https://www.readbyqxmd.com/read/29314159/severe-fetal-hydronephrosis-the-added-value-of-associated-congenital-anomalies-of-the-kidneys-and-urinary-tract-cakut-in-the-prediction-of-postnatal-outcome
#11
Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Benjamin Dekel, Naomi Pode-Shakked, Ben Pode-Shakked, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To focus on fetuses diagnosed with severe hydronephrosis and correlate pre-natal sonographic characteristics with post-natal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (APRPD) >15 mm) were collected retrospectively over a period of 11 years and divided into two groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT). RESULTS: 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT...
January 5, 2018: Prenatal Diagnosis
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/29314095/intrauterine-sludge-on-a-detailed-ultrasound-scan-does-not-rule-out-anal-atresia
#13
Yechiel Burke, Ynon Gilboa, Moshe Bronshtein
No abstract text is available yet for this article.
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314091/the-relationship-between-preoperative-fetal-head-circumference-and-2-year-cognitive-performance-after-laser-surgery-for-twin-twin-transfusion-syndrome
#14
Andrew H Chon, Mary Rose Mamey, Sheree M Schrager, Douglas L Vanderbilt, Ramen H Chmait
OBJECTIVE: To determine the relationship between preoperative fetal head circumference (HC) and cognitive performance among children treated with laser surgery for twin-twin transfusion syndrome (TTTS). METHODS: Donor and recipient twin HCs were measured preoperatively (16 - 26 weeks' gestation) and at 2 years corrected age. Multilevel multivariate regression models were used to test pregnancy and child-level risk factors for lower Battelle Developmental Inventory 2nd Edition (BDI-2) scores...
January 4, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29297200/utility-of-chromosomal-microarray-in-anomalous-fetuses
#15
Jacqueline G Parchem, Teresa N Sparks, Kristen Gosnell, Mary E Norton
OBJECTIVE: To determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS: This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) testing. Pathogenic CNV or variants of uncertain significance (VUS) were classified as abnormal. The primary outcome of perinatal death was compared among fetuses with normal versus abnormal CMA...
January 3, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29266293/delivering-an-accredited-non-invasive-prenatal-diagnosis-service-for-monogenic-disorders-and-recommendations-for-best-practice
#16
Lucy A Jenkins, Zandra C Deans, Celine Lewis, Stephanie Allen
The identification of cell free fetal DNA circulating in maternal blood combined with technological developments, in particular next generation sequencing, is enabling the development of safer prenatal diagnosis. Whilst this technology has been widely applied as a highly sensitive screening test for aneuploidy, there has been relatively little clinical application for the diagnosis of monogenic disorders. In the UK we have established non-invasive prenatal diagnosis (NIPD) as a clinical service for a range of inherited disorders...
December 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29240244/prenatal-diagnosis-of-urinary-tract-anomalies-a-cohort-study-in-the-northern-netherlands
#17
Marian K Bakker, Jorieke E H van Kammen, Hanneke Fleurke-Rozema, Esther Streefland, Valentina Gracchi, Caterina M Bilardo, Hermien E K De Walle
OBJECTIVE: To describe prevalence, time of diagnosis and type of birth in children and fetuses with urinary tract (UT) anomalies after the introduction of the anomaly scan in the Netherlands in 2007. METHODS: We selected, from a population-based congenital anomaly registry, children and fetuses with UT anomalies born between 2008-2014. Cases were defined according to type of UT anomaly and whether isolated or with associated anomalies. Information was collected on time of diagnosis and type of birth...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#18
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29240234/prospective-study-feasibility-screening-of-antenatal-total-abnormal-pulmonary-venous-return
#19
Christine Levêque, Louise Paret, Tiffany Cochet, Félicia Joinau-Zoulovits, E Chantalat, F Vidal, Christophe Vayssière, Nadine David
INTRODUCTION: Total Abnormal Pulmonary Venous Return (TAPVR) is a heart defect often missed prenatally, yet at birth it is a surgical emergency. Antenatal detection could be improved by sonographic visualization of the anastomosis of two pulmonary veins in a sinus into the left atrium. The objective of this study is to evaluate the feasibility of this screening method. METHOD: Prospective observational study. Five operators selected one representative image taken during morphological ultrasound screening...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29239485/comparison-of-umbilical-cord-occlusion-methods-radiofrequency-ablation-versus-laser-photocoagulation
#20
Mira Abdel-Sattar, Andrew H Chon, Arlyn Llanes, Lisa M Korst, Joseph G Ouzounian, Ramen H Chmait
OBJECTIVE: To compare outcomes between two umbilical cord occlusion (UCO) methods: radiofrequency ablation (RFA) versus fetoscopic-guided laser photocoagulation. METHODS: Retrospective study of all monochorionic diamniotic multiple gestations that underwent UCO with RFA (preferred after 2014) or laser (preferred before 2014). In bivariate analysis, patients treated with RFA were compared to laser. Risk factors for intrauterine fetal demise (IUFD) and 30-day survival of the co-twin were identified, and multiple logistic models were fitted to examine whether the UCO method was associated with these outcomes...
December 14, 2017: Prenatal Diagnosis
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