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Prenatal Diagnosis

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https://read.qxmd.com/read/31093996/obstetric-outcomes-of-ex-utero-intrapartum-treatment-exit
#1
Alireza A Shamshirsaz, Soroush Aalipour, Hadi Erfani, Ahmed A Nassr, Kelsey A Stewart, Elizabeth S Kravitz, Atefeh Rezaei, Magdalena Sanz Cortes, Jimmy Espinoza, Michael A Belfort
BACKGROUND/PURPOSE: The Ex-Utero Intrapartum Treatment (EXIT) procedure is used to secure effective gas exchange prior to postnatal life. We describe the obstetrical course and maternal outcomes of a series of patients who underwent EXIT. METHODS: This is a review of all pregnancies in which fetuses were delivered by EXIT from January 2001 to April 2018. Outcome variables included estimated gestational age (EGA) at delivery, need for emergency EXIT, maternal estimated blood loss (EBL), need for maternal blood transfusion and maternal post-operative length of hospital stay...
May 15, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31087399/a-system-based-approach-to-the-genetic-etiologies-of-non-immune-hydrops-fetalis
#2
Anne H Mardy, Shilpa P Chetty, Mary E Norton, Teresa N Sparks
A wide spectrum of genetic causes may lead to non-immune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies...
May 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31087396/fetal-cardiac-abnormalities-genetic-etiologies-to-be-considered
#3
Florencia Petracchi, Silvina Sisterna, Laura Igarzabal, Louise Wilkins-Haug
Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process...
May 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31087330/the-performance-of-cardio-biparietal-ratio-measured-by-2d-ultrasound-in-predicting-fetal-hemoglobin-bart-s-disease-during-mid-pregnancy-a-pilot-study
#4
Kuntharee Traisrisilp, Sirinart Sirilert, Theera Tongsong
OBJECTIVE: To assess the performance of cardio-biparietal ratio measured by real time 2-D ultrasound in predicting hemoglobin Bart's disease among fetuses at risk. METHOD: This prospective diagnostic study recruited pregnancies at risk for hemoglobin Bart's disease at 17 to 22 weeks gestation. Cardio-biparietal ratio and cardio-thoracic ratio were measured before cordocentesis for hemoglobin typing. The performance of the cardio-biparietal ratio and cardio-thoracic ratio for identifying affected fetuses were evaluated...
May 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31083781/high-risk-what-s-next-a-survey-study-on-decisional-conflict-regret-and-satisfaction-among-high-risk-pregnant-women-making-choices-about-further-prenatal-testing-for-fetal-aneuploidy
#5
Tanja Schlaikjaer Hartwig, Caroline Borregaard Miltoft, Charlotta Ingvoldstad Malmgren, Ann Tabor, Finn Stener Jørgensen
OBJECTIVES: To investigate decision-making among pregnant women when choosing between non-invasive prenatal testing, invasive testing or no further testing. METHODS: Women with a high-risk result from the first trimester screening were invited to fill in two online questionnaires at gestational age 12-14(Q1) and 24(Q2). The scales used were Decisional Conflict and Regret Scales, Satisfaction with genetic Counselling Scale and Health-Relevant Personality Inventory...
May 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31077410/microrna-changes-in-maternal-serum-from-pregnancies-complicated-by-twin-twin-transfusion-syndrome-a-discovery-study
#6
Fiona L Mackie, Bernadette C Baker, Andrew D Beggs, Agata Stodolna, R Katie Morris, Mark D Kilby
OBJECTIVE: MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD: Initial miRNA profiling was performed using a RT-PCR panel on maternal serum samples taken from 5 women prior to fetoscopic laser ablation for TTTS, and compared to serum samples from 5 women with uncomplicated monochorionic diamniotic twin pregnancies...
May 11, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31069822/noninvasive-assessment-of-fetal-central-nervous-system-insult-potential-application-to-prenatal-diagnosis
#7
Laura Goetzl, Nune Darbinian, Nana Merabova
OBJECTIVE: We have developed novel methods for isolating fetal central nervous system (CNS)-derived extracellular vesicles (FCEs) from maternal plasma as a non-invasive platform for testing aspects of fetal neurodevelopment in early pregnancy. We investigate the hypothesis that levels of defined sets of functional proteins in FCEs can be used to detect abnormalities in fetal neuronal and glial proliferation, differentiation and survival. METHOD: Maternal plasma was obtained between 10 and 19 weeks from women with current heavy EtOH exposure and matched controls...
May 8, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31069818/x-chromosome-inactivation-pattern-of-amniocytes-predicts-the-risk-of-dystrophinopathy-in-fetal-carriers-of-dmd-mutations
#8
Wen-Bin He, Juan Du, Ping-Yuan Xie, Shuang Zhou, Ya-Xin Zhang, Guang-Xiu Lu, Ge Lin, Wen Li, Yue-Qiu Tan
OBJECTIVE: To predict the risk of dystrophinopathy in fetal carriers of DMD mutations. METHODS: Twenty-three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after fetuses were diagnosed as dystrophinopathy carriers. Eleven fetal carriers from 10 pregnant women were tested to analyse X-chromosome inactivation (XCI) using amniocytes to assess the risk of dystrophinopathy...
May 8, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31063270/differences-in-perinatal-outcomes-according-to-forming-period-of-single-umbilical-cord-in-singleton-pregnancy
#9
Masamitsu Nakamura, Tomohiro Oba, Hiroko Takita, Mayumi Tokunaka, Tatsuya Arakaki, Minako Goto, Maya Koyano, Shoko Hamada, Ryu Matsuoka, Akihiko Sekizawa
OBJECTIVES: To establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS: A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both 1st and 2nd trimester scan, which the number of arteries in the umbilical cord was routinely documented. SUA was classified as aplastic- when the diagnosis was made in the 1st trimester, and as occlusive-type when diagnosed in the 2nd or 3rd trimester...
May 7, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31063215/patient-preferences-for-prenatal-testing-and-termination-of-pregnancy-for-congenital-anomalies-and-genetic-diseases-in-ethiopia
#10
Daniel Brooks, Katharine Asta, Julie Sturza, Birhanu Kebede, Delayehu Bekele, Balkachew Nigatu, Jenny Hewison, Shane C Quinonez
OBJECTIVE: As prenatal diagnostic services expand throughout low-income countries an important consideration is the appropriateness of these services for patients. In these countries, services now include prenatal ultrasound and occasionally genetic testing. To assess patient interest, we surveyed pregnant patients at a hospital in Addis Ababa, Ethiopia on their preferences for prenatal testing and termination of affected pregnancies for congenital anomalies and genetic diseases. METHOD: One-hundred and one pregnant patients were surveyed on their preferences for prenatal testing and termination of affected pregnancies using a survey covering various congenital anomalies and genetic diseases...
May 7, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31050019/outcomes-of-hypoplastic-left-heart-syndrome-and-fetal-aortic-valvuloplasty-in-a-country-with-suboptimal-postnatal-management
#11
Mónica Cruz-Lemini, Monica Alvarado-Guaman, Belen Nieto-Castro, Jonathan Luna-Garcia, Miguel Martínez-Rodríguez, Israel Juarez-Martínez, Alexis Palacios-Macedo, Rogelio Cruz-Martínez
BACKGROUND: Fetal aortic stenosis (AoS) may progress to hypoplastic left heart syndrome (HLHS) in utero. There are currently no data, pre- or postnatal, describing survival of fetuses or neonates with AoS or HLHS in a country with suboptimal postnatal management. STUDY DESIGN: Prospective cohort study performed in Mexico, including cases diagnosed with AoS and HLHS within a 6-year period. AoS patients fulfilling previously published criteria for evolving HLHS (eHLHS) were offered fetal aortic valvuloplasty...
May 2, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31046133/the-complementary-role-of-imaging-modalities-in-binder-phenotype-can-prognostic-factors-of-neonatal-respiratory-distress-be-found
#12
Hortense Bosselut, Michel Panuel, Sabine Sigaudy, Guillaume Gorincour, Kathia Chaumoitre, Florence Bretelle
OBJECTIVE: To evaluate the complementarity between prenatal ultrasound, computed tomography and MRI scans for fetuses with Binder phenotype. METHODS: We carried out a retrospective study from January 1, 2009 to June 30, 2018 of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT)...
May 2, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31017676/impact-of-introduction-of-non-invasive-prenatal-testing-on-uptake-of-genetic-testing-in-fetuses-with-central-nervous-system-anomalies
#13
Samar Al Toukhi, David Chitayat, Johannes Keunen, Maian Roifman, Gareth Seaward, Rory Windrim, Greg Ryan, Tim Van Mieghem
OBJECTIVE: To evaluate the impact of introduction of non-invasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies. METHODS: Retrospective review of all singleton pregnancies complicated by fetal CNS anomalies seen at a single tertiary center between 2010 and 2017. Cases who had undergone invasive testing or NIPT prior to the diagnosis of the CNS anomaly were excluded. Cases were segregated according to whether they were seen prior to introduction of NIPT (Group A, 2010-2013) or thereafter (Group B, 2014-2017)...
April 24, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31017299/fetal-and-perinatal-outcome-associated-with-small-cerebellar-diameter-based-on-second-or-third-trimester-ultrasonography
#14
A Atallah, L Guibaud, P Gaucherand, J Massardier, V Desportes, M Massoud
OBJECTIVE: To examine the outcome of pregnancy with fetal transverse cerebellar diameter (TCD) below the 5th percentile based on routine second or third-trimester ultrasonography. METHODS: We retrospectively analyzed the outcomes of 12,344 women according to TCD Z-scores based on systematic second or third-trimester ultrasound examination between 2007 and 2015. Information on major malformations, chromosomal anomalies, intrauterine or neonatal demise, and other abnormal findings were collected...
April 24, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/31009092/primary-fetal-pleural-effusion-characteristics-outcomes-and-the-role-of-intervention
#15
Alireza A Shamshirsaz, Hadi Erfani, Soroush Aalipour, Sohum C Shah, Ahmed A Nassr, Kelsey A Stewart, Atefeh Rezaei, Magdalena Sanz Cortes, Jimmy Espinoza, Michael A Belfort
BACKGROUND: We aimed to present the natural history and outcomes of fetal primary pleural effusions (PPE). METHODS: Fetuses with prenatal diagnosis of PPE, delivered between January 2011 and June 2018 were included. Fetal PPE were separated into groups: resolved, stable or progressive. Progressive PPE was diagnosed, using fetal echocardiography, by the new onset of fetal hydrops or impaired cardiac function. Data were reported as median [range] and n (%). RESULTS: Among 189 fetuses with antenatal diagnosis of pleural effusion, 30 had a PPE...
April 22, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30997678/termination-of-pregnancy-for-foetal-anomalies-parents-preferences-for-psychosocial-care
#16
Frederike H W Dekkers, Attie T J I Go, Luuk Stapersma, Alex J Eggink, Elisabeth M W J Utens
OBJECTIVE: To investigate, from the perspective of women and partners, at what stage of a termination of pregnancy (TOP) for foetal anomalies psychosocial care (PSC) is most meaningful, what topics should be discussed, and who should provide PSC. METHOD: A cross-sectional retrospective cohort study was conducted with a consecutive series of 76 women and 36 partners, who completed a semi-structured online questionnaire. RESULTS: Overall, women expressed a greater need for PSC than their partners...
April 17, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30995693/digital-vs-face-to-face-information-provision-in-patient-counselling-for-prenatal-screening-a-noninferiority-randomized-controlled-trial
#17
Robert Adrianus de Leeuw, Sabine Fiona Bianca van der Horst, Anneloes Maaike de Soet, Jeroen Patrick van Hensbergen, Petra Cornelia Afra Maria Bakker, Michiel Westerman, Christianne Johanna Maria de Groot, Fedde Scheele
OBJECTIVE: To evaluate face-to-face information provision in patient counselling for prenatal screening compared with two forms of digital information provision, namely, noninteractive instructional video or interactive video. METHOD: We performed a prospective, noninferiority, cluster-randomized controlled trial comparing face-to-face (usual care) with two forms of digital information provision (intervention) in counselling for prenatal screening. This study was performed in the Amsterdam UMC, the Netherlands, in 2017, and included women in the first trimester of pregnancy...
April 17, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30995342/metabolic-fingerprinting-of-chorionic-villous-samples-in-normal-pregnancy-and-chromosomal-disorders
#18
Federica Murgia, Ambra Iuculano, Cristina Peddes, Maria Laura Santoru, Laura Tronci, Monica Deiana, Luigi Atzori, Giovanni Monni
OBJECTIVE: Placenta-related biological samples are used in biomedical research to investigate placental development. Metabolomics represents a promising approach for studying placental metabolism in an effort to explain physiological and pathological mechanisms. The aim of this study was to investigate metabolic changes in chorionic villi during the first trimester of pregnancy in euploid and aneuploid cases. METHODS: Samples from 21 women (13 euploid, 8 aneuploid) were analyzed with 1 H-Nuclear Magnetic Resonance (NMR), Gas Chromatography-Mass Spectrometry (GC-MS) and High-Performance Liquid chromatography (HPLC)...
April 17, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30980563/neurodevelopmental-outcome-following-prenatal-diagnosis-of-a-short-corpus-callosum
#19
Roni Meidan, Omer Bar-Yosef, Itay Ashkenazi, Orr Yahal, Michal Berkenstadt, Chen Hoffman, Abraham Tsur, Reuven Achiron, Eldad Katorza
OBJECTIVE: Data regarding the neurodevelopmental outcome of fetal short corpus callosum (CC) diagnosed according to standard reference charts is scarce. The purpose of this study was to assess whether the finding is related to neurodevelopmental delay, and to examine reclassification to normal fetal CC length using CC length/EFW ratio. METHOD: Historical prospective cohort study including pregnant women who were referred for fetal neurosonogram due to abnormal CC...
April 13, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30980419/fetal-anogenital-distance-using-ultrasound
#20
Ezra Aydin, Rosemary Holt, Daren Chaplin, Rebecca Hawkes, Carrie Allison, Gerald Hackett, Topun Austin, Alex Tsompanidis, Lidia Gabis, Shimrit Ilana Ziv, Simon Baron-Cohen
OBJECTIVE: This study measured anogenital distance (AGD) during late second/early third trimester of pregnancy to confirm previous findings that AGD can be measured non-invasively in the fetus using ultrasound, and further showed differences in reference ranges between populations. METHOD: 210 singleton pregnancies were recruited at the Rosie Hospital, Cambridge, UK. A 2D ultrasound was performed between 26-30 weeks pregnancy. AGD was measured from the centre of the anus to the base of the scrotum in males, and to the posterior convergence of the fourchette in females...
April 13, 2019: Prenatal Diagnosis
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