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Fetal anomaly

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https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#1
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29447245/adverse-obstetric-outcomes-during-delivery-hospitalizations-complicated-by-suicidal-behavior-among-us-pregnant-women
#2
Qiu-Yue Zhong, Bizu Gelaye, Jordan W Smoller, Paul Avillach, Tianxi Cai, Michelle A Williams
OBJECTIVE: The effects of suicidal behavior on obstetric outcomes remain dangerously unquantified. We sought to report on the risk of adverse obstetric outcomes for US women with suicidal behavior at the time of delivery. METHODS: We performed a cross-sectional analysis of delivery hospitalizations from 2007-2012 National (Nationwide) Inpatient Sample. From the same hospitalization record, International Classification of Diseases codes were used to identify suicidal behavior and adverse obstetric outcomes...
2018: PloS One
https://www.readbyqxmd.com/read/29446682/fetal-urinary-tract-anomalies-review-of-pathophysiology-imaging-and-management
#3
Achille Mileto, Malak Itani, Douglas S Katz, Joseph R Siebert, Manjiri K Dighe, Theodore J Dubinsky, Mariam Moshiri
OBJECTIVE: Common fetal anomalies of the kidneys and urinary tract encompass a complex spectrum of abnormalities that can be detected prenatally by ultrasound. Common fetal anomalies of the kidneys and urinary tract can affect amniotic fluid volume production with the development of oligohydramnios or anhydramnios, resulting in fetal pulmonary hypoplasia and, potentially, abnormal development of other fetal structures. CONCLUSION: We provide an overview of common fetal anomalies of the kidneys and urinary tract with an emphasis on sonographic patterns as well as pathologic and postnatal correlation, along with brief recommendations for postnatal management...
February 15, 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29438046/pregnancy-decision-making-in-women-with-multiple-sclerosis-treated-with-natalizumab-i-fetal-risks
#4
Emilio Portaccio, Pietro Annovazzi, Angelo Ghezzi, Mauro Zaffaroni, Lucia Moiola, Vittorio Martinelli, Roberta Lanzillo, Vincenzo Brescia Morra, Francesca Rinaldi, Paolo Gallo, Carla Tortorella, Damiano Paolicelli, Carlo Pozzilli, Laura De Giglio, Paola Cavalla, Eleonora Cocco, Maria Giovanna Marrosu, Francesco Patti, Claudio Solaro, Paolo Bellantonio, Antonio Uccelli, Alice Laroni, Luisa Pastò, Marta Giannini, Maria Trojano, Giancarlo Comi, Maria Pia Amato
OBJECTIVE: To assess fetal risk after pregnancy exposure to natalizumab in women with multiple sclerosis (MS), with a specific focus on spontaneous abortion (SA) and congenital anomalies (CA). METHODS: Data of all pregnancies occurring between 2009 and 2015 in patients with MS treated with natalizumab and referring to 19 participating sites were collected and compared with those of pregnancies in untreated patients and patients treated with injectable immunomodulatory agents...
February 7, 2018: Neurology
https://www.readbyqxmd.com/read/29437032/computerised-interpretation-of-the-fetal-heart-rate-during-labour-a-randomised-controlled-trial-infant
#5
Peter Brocklehurst, David Field, Keith Greene, Edmund Juszczak, Sara Kenyon, Louise Linsell, Chris Mabey, Mary Newburn, Rachel Plachcinski, Maria Quigley, Philip Steer, Liz Schroeder, Oliver Rivero-Arias
BACKGROUND: Continuous electronic fetal monitoring (EFM) in labour is widely used and computerised interpretation has the potential to increase its utility. OBJECTIVES: This trial aimed to find out whether or not the addition of decision support software to assist in the interpretation of the cardiotocograph (CTG) reduced the number of poor neonatal outcomes, and whether or not it was cost-effective. DESIGN: Two-arm individually randomised controlled trial...
February 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29435489/the-use-of-ultrasound-as-a-potential-adjunct-to-cell-free-fetal-dna-screening-for-aneuploidy-at-weill-cornell-medical-college-new-york-usa
#6
Jessica Scholl, Stephen Chasen
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30...
January 2018: Surgery Journal
https://www.readbyqxmd.com/read/29423392/neurochemical-alterations-in-sudden-unexplained-perinatal-deaths-a-review
#7
REVIEW
Nazeer Muhammad, Muhammad Sharif, Javeria Amin, Riffat Mehboob, Syed Amir Gilani, Nargis Bibi, Hasnain Javed, Naseer Ahmed
Sudden unexpected perinatal collapse is a major trauma for the parents of victims. Sudden infant death syndrome (SIDS) is unexpected and mysterious death of an apparently healthy neonate from birth till 1 year of age without any known causes, even after thorough postmortem investigations. However, the incidence of sudden intrauterine unexplained death syndrome (SIUDS) is seven times higher as compared with SIDS. This observation is approximated 40-80%. Stillbirth is defined as death of a fetus after 20th week of gestation or just before delivery at full term without a known reason...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29422210/pathophysiology-of-placental-derived-fetal-growth-restriction
#8
REVIEW
Graham J Burton, Eric Jauniaux
Placental-related fetal growth restriction arises primarily due to deficient remodeling of the uterine spiral arteries supplying the placenta during early pregnancy. The resultant malperfusion induces cell stress within the placental tissues, leading to selective suppression of protein synthesis and reduced cell proliferation. These effects are compounded in more severe cases by increased infarction and fibrin deposition. Consequently, there is a reduction in villous volume and surface area for maternal-fetal exchange...
February 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29420836/morphology-of-early-intrauterine-deaths-with-full-trisomy-15
#9
Tom Philipp, Jefferson Terry, Michael Feichtinger, Sandra Grillenberger, Beda Hartmann, Stefan Jirecek
OBJECTIVE: The morphologic features of embryos with full trisomy 15 are described. METHOD: 1195 pregnancy losses were examined embryoscopically and cytogenetically. RESULTS: Of 1173 successfully karyotyped specimens, full trisomy 15 was diagnosed cytogenetically in 59 cases (5 %). All 59 trisomy 15 embryos were diagnosed cytogenetically in the group of 962 embryonic miscarriages (6%). Trisomy 15 was not registered in 171 anembryonic or yolk sac miscarriages, and no case of full trisomy 15 was observed in 62 fetal miscarriages...
February 8, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29420410/fetal-survival-in-second-trimester-termination-of-pregnancy-without-feticide
#10
Stephanie Springer, Monika E Gorczyca, Julia Arzt, Sophie Pils, Dieter Bettelheim, Johannes Ott
OBJECTIVE: To evaluate the rate of live birth and the duration of survival after termination of pregnancy without feticide. METHODS: We conducted a retrospective analysis of 241 terminations of pregnancy without feticide for fetal anomalies or genetic abnormalities between 20 0/7 and 24 0/7 weeks of gestation at a single tertiary care referral center in Europe between February 2003 and May 2017. A multivariate binary regression model was used to evaluate factors associated with live birth...
February 5, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29419619/second-trimester-ultrasound-detection-of-fetal-anomalies-in-the-obese-obstetrical-population-a-systematic-review-protocol
#11
Christina Preen, Zachary Munn, Smita Raju, Nicholas Flack
The objective of this review is to identify, appraise and synthesize the best available evidence on the impact of maternal obesity on mid second trimester ultrasound detection of fetal anomalies in pregnancy.
February 2018: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/29417066/a-comparison-of-face-to-face-and-group-education-on-informed-choice-and-decisional-conflict-of-pregnant-women-about-screening-tests-of-fetal-abnormalities
#12
Masoumeh Kordi, Sahar Riyazi, Marziyeh Lotfalizade, Mohammad Taghi Shakeri, Hoseyn Jafari Suny
BACKGROUND AND GOAL: Screening of fetal anomalies is assumed as a necessary measurement in antenatal cares. The screening plans aim at empowerment of individuals to make the informed choice. This study was conducted in order to compare the effect of group and face-to-face education and decisional conflicts among the pregnant females regarding screening of fetal abnormalities. METHODS: This study of the clinical trial was carried out on 240 pregnant women at <10-week pregnancy age in health care medical centers in Mashhad city in 2014...
2018: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/29415437/conventional-chromosome-analysis-of-fetuses-with-central-nervous-system-anomalies-and-associated-anomalies-is-anything-changed
#13
Emre Ekmekci, Emine Demirel, Servet Gencdal
Central nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal CNS anomalies and underwent conventional karyotyping. Conventional karyotype results of subjects were compared with karyotype results of fetal karyotyped patients as a result of maternal anxiety in a two-year period...
February 6, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29409551/impact-of-prenatal-diagnosis-on-the-management-and-early-outcome-of-critical-duct-dependent-cardiac-lesions
#14
Varsha Thakur, Nathalie Dutil, Steven M Schwartz, Edgar Jaeggi
OBJECTIVE: The objective of this study was to compare the preoperative management and outcome of neonates with duct-dependent critical CHD with fetal versus postnatal diagnosis. METHODS: Patients referred with CHD to our centre from January 1, 2009 to December 31, 2010 were enrolled prospectively. Live births with a critical form of CHD, a gestational age ⩾36 weeks and a weight ⩾2 kg at birth, and the intention-to-treat were included in this sub-study. Excluded were neonates with lethal non-cardiac and/or genetic anomalies...
February 7, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29405479/persistent-extreme-hyperextension-of-the-fetal-neck-clinical-and-neuroimaging-findings
#15
Shai Shrot, Clark T Johnson, W Christopher Golden, Ahmet A Baschat, Janine E Bullard, Aylin Tekes, Andrea Poretti, Emily Dunn, Thierry A G M Huisman
BACKGROUND AND PURPOSE: Persistent hyperextension of the fetal craniocervical junction or neck is one of several fetal positions commonly observed on prenatal imaging. Underlying fetal structural etiologies such as fetal neck masses and iniencephaly can be detected as causes of hyperextension. Caesarean delivery is considered in cases of vaginal delivery or obstructed labor for fear of cervical spinal cord injury. In this case series, we describe the prenatal magnetic resonance imaging (MRI) findings and their potential role in obstetric management and discuss postnatal outcomes in fetuses demonstrating prenatal imaging findings of persistent extreme hyperextension of the neck...
February 5, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29400413/pregnancy-and-delivery-outcomes-from-patients-with-repaired-anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery
#16
Miki Kanoh, Kei Inai, Tokuko Shinohara, Eriko Shimada, Mikiko Shimizu, Hirofumi Tomimatsu, Masaki Ogawa, Toshio Nakanishi
AIM: We investigated the clinical courses before and during pregnancy and after delivery in patients with repaired anomalous origin of the left coronary artery from the pulmonary artery to determine the impact of the hemodynamic changes and cardiac function on the selection of the appropriate mode of delivery. METHODS: Six patients who underwent coronary artery reimplantation delivered 10 infants. We scrutinized the patients' hemodynamic changes on echocardiographs and the plasma brain natriuretic peptide levels before and during pregnancy and after delivery, the perinatal outcomes and maternal and fetal events...
February 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29400376/prenatal-diagnosis-of-the-fetal-common-arterial-trunk-a-case-series
#17
Claudiu Marginean, Liliana Gozar, Cristina Oana Mărginean, Horațiu Suciu, Rodica Togănel, Iolanda Muntean, Maria Cezara Mureșan
Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible...
February 4, 2018: Medical Ultrasonography
https://www.readbyqxmd.com/read/29393655/exposure-to-latent-tuberculosis-treatment-during-pregnancy-the-prevent-tb-and-the-iadhere-trials
#18
Ruth N Moro, Nigel A Scott, Andrew Vernon, Naomi K Tepper, Stefan V Goldberg, Kevin Schwartzman, Chi-Chiu Leung, Neil W Schluger, Robert W Belknap, Richard E Chaisson, Masahiro Narita, Elizabeth S Machado, Marta Lopez, Jorge Sanchez, Margarita E Villarino, Timothy R Sterling
RATIONALE: Data are limited regarding the safety of 12-dose once-weekly isoniazid (900 mg) plus rifapentine (900 mg) (3HP) for latent tuberculosis infection (LTBI) treatment during pregnancy. OBJECTIVE: To assess safety and pregnancy outcomes among pregnant women who were inadvertently exposed to study medications in two LTBI trials (PREVENT TB or iAdhere) evaluating 3HP and 9 months of daily isoniazid (300 mg) (9H). METHODS: Data from reproductive age (15-51 years) women who received ≥1 study dose of 3HP or 9H in either trial were analyzed...
February 2, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29392858/diagnosis-of-a-severe-congenital-anomaly-a-qualitative-analysis-of-parental-decision-making-and-the-implications-for-healthcare-encounters
#19
Robyn Lotto, Lucy K Smith, Natalie Armstrong
OBJECTIVE: To explore parental decision making following diagnosis of a severe congenital anomaly, and implications for healthcare encounters. DESIGN: Qualitative semi-structured interviews with 38 parents-to-be were collated and triangulated with data generated from consultation recordings. ANALYSIS: Data were analysed using a constant comparative-based approach. SETTING: Recruitment was undertaken across four fetal medicine sites in two tertiary referral trusts...
February 2, 2018: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/29392437/independent-association-between-uterine-malformations-and-cervical-insufficiency-a-retrospective-population-based-cohort-study
#20
Salvatore Andrea Mastrolia, Yael Baumfeld, Reli Hershkovitz, David Yohay, Giuseppe Trojano, Adi Y Weintraub
OBJECTIVE: The purpose of our study was to explore maternal and fetal outcomes in the second and third trimester in women with uterine malformations. STUDY DESIGN: This was a retrospective population-based cohort study including women with a diagnosis of uterine malformation arised from workup for infertility or recurrent pregnancy loss, was accidental during pregnancy, or was noticed at the time of cesarean delivery. RESULTS: A total of 280,721 pregnancies met the inclusion criteria and were divided into two study groups: (1) pregnancies in women with uterine malformations (n = 1099); and (2) controls (n = 279,662)...
February 1, 2018: Archives of Gynecology and Obstetrics
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