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Prenatal Diagnosis

journal
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#1
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of Magnetic Resonance Imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following an ultrasound diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921586/down-syndrome-maternal-serum-markers-in-oocyte-donation-and-other-assisted-reproductive-technologies
#2
Aurore Bonnin, Françoise Muller, Marie-Victoire Senat, Corinne Sault, Armelle Galland, Joëlle Taieb, Sophie Dreux, Jean Bouyer, Alexandra Benachi
OBJECTIVE: Because maternal serum markers (PAPP-A, hCGβ, and AFP) used for Down syndrome (DS) screening have been described as predictors of obstetrical complications and because assisted reproductive technology (ART) pregnancies are known to be at increased risk for obstetrical complications, it is unclear whether or not correction factors should be applied to the calculated risk of DS. The purpose of this study was to evaluate DS maternal serum markers in oocyte donation (OD) and ART pregnancies in comparison with natural pregnancies...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#3
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#4
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo there is a recurrence risk due to parental germ line mosaicism, depending on the gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28892219/offering-non-invasive-prenatal-testing-as-part-of-routine-clinical-service-can-high-levels-of-informed-choice-be-maintained
#5
Celine Lewis, Melissa Hill, Lyn S Chitty
OBJECTIVES: To assess rates of informed choice among women offered NIPT for aneuploidy as part of routine clinical care. METHODS: A cross-sectional survey was conducted across six antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing or no further testing. Pre-test counselling was delivered as part of routine care by the local maternity team. Women were given a questionnaire containing a measure of informed choice immediately after pre-test counselling...
September 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28886226/a-systematic-review-and-meta-analysis-on-fetal-ovarian-cysts-impact-of-size-appearance-and-prenatal-aspiration
#6
REVIEW
Athanasios Tyraskis, Spyros Bakalis, Anna L David, Simon Eaton, Paolo De Coppi
OBJECTIVE: To compare outcomes of ultrasound-guided aspiration of fetal ovarian cysts with conservative management. METHOD: A systematic review of MEDLINE and Web of Science included studies reporting outcomes (pre- and post-natal torsion, spontaneous resolution, and surgery) of fetuses with ovarian cysts. Subgroup analysis was performed according to cyst diameter at diagnosis and cysts ≥ 40mm. RESULTS: 92 non-randomized studies reported on 380 cysts (324 observed, 56 aspirated in-utero) in 365 fetuses...
September 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28881392/on-the-road-to-replacing-invasive-testing-with-cell-based-nipt-five-clinical-cases-with-aneuploidies-microduplication-unbalanced-structural-rearrangement-or-mosaicism
#7
Else Marie Vestergaard, Ripudaman Singh, Palle Schelde, Lotte Hatt, Katarina Ravn, Rikke Christensen, Dorte Launholt Lildballe, Olav Bjørn Petersen, Niels Uldbjerg, Ida Vogel
OBJECTIVE: Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a non-invasive prenatal test (cbNIPT). Potentially this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present five selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations. METHOD: Blood samples were collected from high risk pregnancies in gestational week 12+1 to 12+5...
September 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28881030/the-association-between-anticoagulation-therapy-maternal-characteristics-and-a-failed-cfdna-test-due-to-a-low-fetal-fraction
#8
Whitney Burns, Nathanael Koelper, Andrea Barberio, Mary DeAgostino-Kelly, Michael Mennuti, Mary D Sammel, Lorraine Dugoff
OBJECTIVES: The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD: Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2016. cfDNA screening was performed using methylation techniques until October 2013; thereafter, samples were run with massively parallel sequencing...
September 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28873215/group-genetic-counseling-an-alternate-service-delivery-model-in-a-high-risk-prenatal-screening-population
#9
Mireille Cloutier, Lauren Gallagher, Claire Goldsmith, Salwa Akiki, Nick Barrowman, Shawna Morrison
OBJECTIVE: To address the growing demand for prenatal genetics services, group genetic counseling was explored as an alternative service delivery model for women with a positive prenatal screening result. METHOD: Women were recruited from a prenatal genetics service and systematically allocated to a traditional individual appointment with a genetic counselor or a group genetic counseling session. Questionnaires were administered to assess patient psychological outcomes, knowledge and satisfaction following individual and group genetic counseling for a positive prenatal screen...
September 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28842991/the-amniotic-fluid-as-a-source-of-mesenchymal-stem-cells-with-lung-specific-characteristics
#10
Flore Lesage, Silvia Zia, Julio Jiménez, Jan Deprest, Jaan Toelen
The amniotic fluid is a clinically accessible source of mesenchymal stem cells (AF-MSC) during gestation, which enables autologous cellular therapy for perinatal disorders. The origin of AF-MSC remains elusive: renal and neuronal progenitors have been isolated from the AF-MSC pool, yet no cells with pulmonary characteristics. We analyzed gene expression of pulmonary and renal markers of 212 clonal lines of AF-MSC isolated from amniocentesis samples. AF-MSC were cultured on dishes coated with extracellular matrix (ECM) proteins from decellularized fetal rabbit lungs...
August 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28837248/stillbirth-and-neonatal-mortality-in-pregnancies-complicated-by-major-congenital-anomalies-findings-from-a-large-european-cohort
#11
Henk Groen, Katelijne Bouman, Anna Pierini, Judith Rankin, Anke Rissmann, Martin Häusler, Lyubov Yevtushok, Maria Loane, Jan Jaap H M Erwich, Hermien E K de Walle
OBJECTIVE: To provide prognostic information to help parents to reach an informed decision about termination or continuation of the pregnancy and to shape peripartum policy based on a large European cohort. METHOD: Thirteen registries from the European Surveillance of Congenital Anomalies (EUROCAT) network contributed data from January 1, 1998 to December 31, 2011. Terminations for fetal anomalies were excluded. Chromosomal anomalies, syndromes and isolated anomaly groups were distinguished according to EUROCAT guidelines...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28837243/clinical-accuracy-of-abnormal-cell-free-fetal-dna-cfdna-results-for-the-sex-chromosomes
#12
Emily W Scibetta, Stephanie G Valderramos, Rashmi R Rao, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SC). Study Design This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice, from March 2013 to July 2015. CfDNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. RESULTS: Of fifty abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex-discordant on US...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28837226/a-reference-range-of-fetal-abdominal-circumference-growth-velocity-between-20-and-36-weeks-gestation
#13
Vannuccini Silvia, Ioannou Christos, Cavallaro Angelo, Volpe Grazia, Ruiz-Martinez Sara, Impey Lawrence
OBJECTIVE: To create a single equation and reference range for abdominal circumference growth velocity (ACGV) between 20 and 36 weeks in singleton pregnancies. METHOD: Observational study of pregnant women having routine scans for abdominal circumference (AC) at 20 and 36 weeks gestation. Exclusion criteria were multiple pregnancy, abnormal karyotype, major fetal abnormalities and absent data on first-trimester dating. Scan image quality and AC measurement reliability were assessed according to INTERGROWTH-21(st) criteria...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833310/transplacental-treatment-of-fetal-tachycardia-a-systematic-review-and-meta-analysis
#14
Garick D Hill, Joshua R Kovach, David E Saudek, Anoop K Singh, Karla Wehrheim, Michele A Frommelt
OBJECTIVE: Multiple transplacental medications can be used to treat fetal tachycardia. We sought to perform a systematic review and meta-analysis to determine whether digoxin, flecainide or sotalol was the most efficacious therapy for converting fetal tachycardia to sinus rhythm. METHOD: We performed a systematic review and meta-analysis to compare digoxin, flecainide or sotalol as first-line therapy for fetal tachycardia. Studies were identified by a search of PubMed (Medline), Web of Science, and Scopus...
August 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833278/whole-genome-sequencing-identifies-etiology-of-recurrent-male-intrauterine-fetal-death
#15
Omar Shehab, David J Tester, Nicholas C Ackerman, F Susan Cowchock, Michael J Ackerman
OBJECTIVE: To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males. METHODS: Whole genome sequencing (WGS) was performed on DNA from 5 healthy obligatory carrier females and an unaffected male offspring of a multigenerational pedigree with recurrent second trimester IUFD of males (n=19). When documented, all deaths occurred at ≤ 20 weeks gestation. Hydrops fetalis was diagnosed at death in the most recent case. RESULTS: Following variant filtering based on a recessive X-linked inheritance pattern, a rare FOXP3 frame-shift mutation (p...
August 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#16
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/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#17
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28891233/fetoscopic-tracheal-occlusion-for-treatment-of-non-isolated-congenital-diaphragmatic-hernia
#18
Viola Seravalli, Eric B Jelin, Jena L Miller, Aylin Tekes, Luca Vricella, Ahmet A Baschat
Fetoscopic endotracheal occlusion (FETO) is a prenatal treatment that may increase survival in severe congenital diaphragmatic hernia (CDH). In the USA, FETO is offered for isolated severe left-sided CDH in the context of an FDA-approved feasibility study. FETO in non-isolated cases of severe CDH is only performed with a compassionate use exemption from US regulatory bodies. Anomalies frequently associated with CDH include congenital cystic lesions of the lung and cardiac defects. We describe two cases of non-isolated severe left-sided CDH that underwent prenatal FETO, survived after birth and underwent postnatal surgical repair...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#19
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
#20
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
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