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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28543167/a-novel-homozygous-splice-site-mutation-in-ryr1-causes-fetal-hydrops-and-affects-skeletal-and-smooth-muscle-development
#1
Nicole Meier, Elisabeth Bruder, Isabel Filges
No abstract text is available yet for this article.
May 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28514830/association-of-maternal-serum-papp-a-levels-nuchal-translucency-and-crown-rump-length-in-first-trimester-with-adverse-pregnancy-outcomes-retrospective-cohort-study
#2
Ashwini Bilagi, Danielle L Burke, Richard D Riley, Ian Mills, Mark D Kilby, R Katie Morris
OBJECTIVE: Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD: Retrospective cohort women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression, outcomes: small for gestational age (SGA), pre-eclampsia (PE), pre-term birth (PTB), miscarriage, stillbirth, perinatal mortality and neonatal death (NND)...
May 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28505706/the-three-vessels-and-trachea-view-3vtv-in-the-first-trimester-of-pregnancy-an-additional-tool-in-screening-for-congenital-heart-defects-chd-in-an-unselected-population
#3
Valentina De Robertis, Georgios Rembouskos, Tiziana Fanelli, Grazia Volpe, Brunella Muto, Paolo Volpe
OBJECTIVE: The aim of the study was to evaluate the feasibility of obtaining the 3VTV in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of CHD. METHODS: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in 3 different subgroups: number, size and spatial relationship of the vessels. RESULTS: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28505705/crossed-ectopic-kidney-prenatal-diagnosis-and-postnatal-follow-up
#4
Michal Zajicek, Sharon Perlman, Benjamin Dekel, Einat Lahav, Danny Lotan, Dor Lotan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney METHODS: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position, and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow. RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#5
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28493464/first-trimester-ultrasound-screening-for-trisomy-21-based-on-maternal-age-fetal-nuchal-translucency-and-different-methods-of-ductus-venosus-assessment
#6
Philipp Wagner, Jiri Sonek, Jessika Klein, Markus Hoopmann, Harald Abele, Karl Oliver Kagan
OBJECTIVE: To examine whether combining the dichotomous assessment of the a-wave and the Ductus venosus (DV) PIV measurement improves first-trimester-screening performance. METHODS: Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester-screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal NT, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28493447/the-outcomes-and-prognostic-factors-of-fetal-hydrothorax-associated-with-trisomy-21
#7
Yasuo Yumoto, Seung Chik Jwa, Seiji Wada, Yuichiro Takahashi, Keisuke Ishii, Kiyoko Kato, Noriaki Usui, Haruhiko Sago
OBJECTIVES: To determine the characteristics, outcomes and prognostic factors of fetal hydrothorax (FHT) with trisomy 21. METHODS: A nationwide survey was conducted on FHT fetuses with trisomy 21 delivered after 22 weeks' gestation between January 2007 and December 2011 at perinatal centers. RESULTS: The 91 cases of FHT with trisomy 21 included 28 (30.8%) diagnosed in utero and 63 (69.2%) diagnosed after birth. The natural remission rate was 6...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453882/the-validity-of-the-observed-to-expected-lung-to-head-ratio-in-congenital-diaphragmatic-hernia-in-an-era-of-standardized-neonatal-treatment-a-multicenter-study
#8
Kitty G Snoek, Nina C J Peters, Joost van Rosmalen, Arno F J van Heijst, Alex J Eggink, Esther Sikkel, René M Wijnen, Hanneke IJsselstijn, Titia E Cohen-Overbeek, Dick Tibboel
OBJECTIVE: To assess the predictive value of observed-to-expected lung-to-head ratio (O/E LHR) for survival and chronic lung disease (CLD) in survivors of left-sided congenital diaphragmatic hernia (CDH) in an era of standardized neonatal treatment, and to evaluate the predictive value of the O/E LHR trajectory for survival. METHODS: This retrospective cohort study was performed in two high-volume CDH centers in the Netherlands in prenatally detected, isolated left-sided CDH patients born between 2008-2014...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453880/predicting-postnatal-renal-function-of-prenatally-detected-posterior-urethral-valves-using-fetal-diffusion-weighted-magnetic-resonance-imaging-with-apparent-diffusion-coefficient-determination
#9
Alice Faure, Nicoleta Panait, Michel Panuel, Pierre Alessandrini, Claude D'Ercole, Kathia Chaumoitre, Thierry Merrot
METHODS: Between 2003 and 2014, 11 MRI were performed on fetuses (between 28-32 weeks) in whom second trimester sonography suggested severe bilateral urinary tract anomalies, suspected of PUV. RESULTS: The ADC of the 11 fetuses ranged from 1.3 to 2.86 mm2 s - 1 (median = 1.79 mm2s - 1, normal range for fetal kidney: 1.1-1.8). Two pregnancies with ADC > 2.6 mm2s - 1 were interrupted; the autopsy confirmed PUV and Potter syndrome. For the remaining nine babies, the follow-up was 5...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453870/clinically-relevant-discordances-identified-after-tertiary-reassessment-of-fetuses-with-isolated-congenital-diaphragmatic-hernia
#10
Elisa Done, Leonardo Gucciardo, Tim Van Mieghem, Koen Devriendt, Karel Allegaert, Paul Brady, Roland Devlieger, Luc De Catte, Liesbeth Lewi, Jan Deprest
OBJECTIVE: Fetoscopic Endoluminal Tracheal Occlusion (FETO) may improve outcome of severe isolated Congenital Diaphragmatic Hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following counseling for fetal surgery. DESIGN: Single centre retrospective study on patients with presumed iCDH either referred for assessment and counseling or referred for fetal surgery...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453864/impact-on-spina-bifida-screening-of-shifting-prenatal-down-syndrome-maternal-serum-screening-from-the-second-trimester-to-the-first
#11
Emmanuel Spaggiari, Sophie Dreux, Julien J Stirnemann, Isabelle Czerkiewicz, Véronique Houfflin-Debarge, Alexandra Segonne, Jean-Marie Jouannic, Yves Ville, Francoise Muller
OBJECTIVES: Shifting screening for trisomy 21 to the first trimester has resulted in the loss of MSAFP screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. STUDY DESIGN: We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and "not performed")...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453862/prenatal-abnormal-features-of-fetal-mainstem-bronchi-back-to-the-basics
#12
Alexia Dabadie, Mélinda Kheiri, Harmony Pico, Guillaume Gorincour, Edwin Quarello
No abstract text is available yet for this article.
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28444780/fetal-brain-injury-in-complicated-monochorionic-pregnancies-diagnostic-yield-of-prenatal-mri-following-surveillance-ultrasound-and-influence-on-prognostic-counselling
#13
Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen
OBJECTIVE: This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS: Women with complicated monochorionic gestations complicated by twin-twin transfusion syndrome, co-twin demise (CD), selective intrauterine growth restriction, and/or twin anaemia-polycythaemia sequence who were referred for pMRI after tertiary US were included...
April 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#14
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#15
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose because of tissue-limited mosaicism. This study aimed to further characterize the prenatal and post-natal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of six cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY, diagnosed both prenatally and post-natally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419508/experience-of-carrier-couples-identified-through-a-population-based-carrier-screening-pilot-program-for-four-founder-autosomal-recessive-diseases-in-saguenay-lac-saint-jean
#16
Jessica Tardif, Annabelle Pratte, Anne-Marie Laberge
A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada for four recessive diseases with local founder effects (tyrosinemia type I, ARSACS, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: Describe the experience of carrier couples identified through this program. METHODS: Semi-structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was done to identify emerging themes...
April 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#17
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA(cfDNA)-based non-invasive prenatal testing(NIPT) to cover the entire genome. We aimed to compare the performance of the two test in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12.114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#18
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419502/nuchal-translucency-measurement-free-%C3%AE-hcg-and-papp-a-concentrations-in-ivf-icsi-pregnancies-systematic-review-and-meta-analysis
#19
REVIEW
Paolo Cavoretto, Veronica Giorgione, Sonia Cipriani, Paola Viganò, Massimo Candiani, Annalisa Inversetti, Elena Ricci, Fabio Parazzini
So far data on the effect of assisted reproductive technologies (ART) on the components of first trimester combined screening for Down syndrome are still controversial. A systematic search of the literature was performed in order to identify the effect of ART, particularly IVF and ICSI with fresh embryo transfer, on the nuchal translucency (NT), free β-hCG and PAPP-A measurements. Moreover, a meta-analysis and a descriptive graphical representation of the ratios between ART and spontaneous pregnancies (controls) values of median of the multiple of median (m0MOM) was performed...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#20
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
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