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Multiple gestation prenatal diagnosis

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https://www.readbyqxmd.com/read/29902589/prevalence-and-associated-factors-for-agenesis-of-corpus-callosum-in-emilia-romagna-1981-2015
#1
Elisa Ballardini, Pietro Marino, Elisa Maietti, Gianni Astolfi, Amanda J Neville
Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER). This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA)...
June 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29780772/the-trends-and-risk-factors-to-predict-adverse-outcomes-in-gestational-diabetes-mellitus-a-10-year-experience-from-2006-to-2015-in-a-single-tertiary-center
#2
Minji Kim, Juyoung Park, Soo Hyun Kim, Yoo Min Kim, Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Cheong-Rae Roh
Objective: To investigate the change of maternal characteristics, delivery and neonatal outcomes in gestational diabetes mellitus (GDM) over recent 10 years and to identify the risk factors associated with adverse outcome. Methods: Consecutive GDM patients (n=947) delivered in our institution were included. Research period was arbitrarily divided into 2 periods (period 1: from 2006 to 2010, period 2: from 2011 to 2015). Multiple pregnancies or preexisting diabetes were excluded...
May 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29753919/epidemiology-of-orofacial-clefts-in-a-danish-county-over-35-years-before-and-after-implementation-of-a-prenatal-screening-programme-for-congenital-anomalies
#3
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29720002/early-prenatal-ultrasound-diagnosis-of-congenital-thoracic-malformations
#4
Lea Bentur, Michal Gur, Mordechai Pollak, Kamal Masarweh, Ido Solt, Moshe Bronshtein
OBJECTIVES: To evaluate and describe the spectrum and rate of congenital thoracic malformations (CTMs) diagnosed by early prenatal sonography (gestational age (GA) less than 16 weeks). METHODS: A retrospective, cross-sectional analysis of prenatal ultrasound screening tests in a community-based clinic. RESULTS: In 2001-2017, 31 261 prenatal ultrasound tests detected 31 CTMs at a gestational age of 15.2 (range, 11.6-16.0) weeks. The most common malformation was congenital pleural effusion (CPE) (15 fetuses, 0...
May 2, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29606013/evaluation-of-pre-and-postnatally-diagnosed-gastrointestinal-tract-obstructions
#5
Gokcen Orgul, Tutku Soyer, Murat Yurdakok, Mehmet Sinan Beksac
PURPOSE: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. MATERIALS AND METHODS: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations...
April 12, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29572747/severe-nasomaxillary-hypoplasia-binder-phenotype-on-prenatal-us-mri-an-important-marker-for-the-prenatal-diagnosis-of-chondrodysplasia-punctata
#6
Anna R Blask, Eva I Rubio, Kimberly A Chapman, Anne K Lawrence, Dorothy I Bulas
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017...
March 23, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29489402/abnormalities-associated-with-the-cavum-septi-pellucidi-on-fetal-mri-what-radiologists-need-to-know
#7
Usha D Nagaraj, Maria A Calvo-Garcia, Beth M Kline-Fath
OBJECTIVE: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities...
May 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29462630/pitfalls-in-assessing-chorioamnionicity-novel-observations-and-literature-review
#8
REVIEW
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in 1 fetus, or dizygotic twins forming a monochorionic placenta; (2) separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) false-negative and false-positive λ sign can arise for various reasons, and in partial monochorionic/dichorionic placentas both T and λ sign may co-exist; (4) intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; and (5) errors in ascertaining amnionicity by the visualization of thin intertwin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29405964/new-insights-in-the-pathophysiology-of-complete-hydatidiform-mole
#9
Eric Jauniaux, Maria Memtsa, Jemma Johns, Jackie A Ross, Davor Jurkovic
OBJECTIVE: The majority of complete hydatidiform moles (CHM) are detected on ultrasound examination by the end of the first trimester when they present as multiple sonolucent cysts. To better understand the pathophysiology of this unique placental pathology and improve its prenatal diagnosis and management we have reviewed the ultrasound features of CHM before the appearance of cystic changes. STUDY DESIGN: We searched our database to identify all women diagnosed with a complete hydatidiform mole confirmed by histopathology who had an ultrasound examination before 9 weeks' gestation...
February 2018: Placenta
https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#10
Ying Zhou, Su-Zhen Dong, Yu-Min Zhong, Ai-Min Sun
OBJECTIVE: To examine the features of cardiac rhabdomyomas and tuberous sclerosis in fetuses and infants using magnetic resonance imaging (MRI) and to determine whether MRI is an effective tool to facilitate early detection of tuberous sclerosis complex (TSC). METHODS: Fifteen patients with TSC were evaluated by ultrafast or standard MRI between June 2005 and September 2016. Fifteen patients were divided into two groups. Group A included five cases in utero and followed in infancy with gestational ages from 26 + 1 to 38 + 2 wk...
January 9, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29240037/fetal-anemia-causing-hydrops-fetalis-from-an-alpha-globin-variant-homozygous-hemoglobin-constant-spring
#11
Patcharee Komvilaisak, Ratana Komvilaisak, Arunee Jetsrisuparb, Surapon Wiangnon, Junya Jirapradittha, Pakaphan Kiatchoosakun, Goonapa Fucharoen
BACKGROUND: Fetal anemia is often assumed to be due to red cell alloimmunization and Parvovirus infection, and can lead to hydrops fetalis and death in utero. Other causes, such as mutations of hemoglobin alpha, are less commonly considered. METHODS: We report 7 cases with fetal anemia causing hydrops fetalis. Serial Doppler ultrasound for measurement peak systolic velocity (PSV) of middle cerebral artery (MCA) was used for evaluation of fetal anemia. Fetal anemia is suggested if the MCA/PSV ratio is >1...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29195695/the-diagnosis-and-management-of-morbidly-adherent-placenta
#12
REVIEW
Michael A Belfort, Alireza A Shamshirsaz, Karin A Fox
The incidence of morbidly adherent placenta (MAP) has risen 13-fold since the early 1900s and is directly correlated with the rising rate of cesarean delivery. It is important for clinicians to screen all pregnancies for MAP at the time of routine second-trimester ultrasonography. In addition, patients with risk factors (e.g., multiple prior cesarean deliveries) should undergo targeted screening for MAP. Optimal maternal and fetal outcomes for these high-risk pregnancies result from accurate prenatal diagnosis and comprehensive multidisciplinary preparation and delivery between 34 and 36 weeks of gestation...
February 2018: Seminars in Perinatology
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#13
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29057694/early-unexpected-diagnosis-of-fetal-life-limiting-malformation-antenatal-palliative-care-and-parental-decision
#14
Federico Mariona, Marianne Burnett, Melody Zoma, Janice Blake, Hanna Khouri
INTRODUCTION: Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event. OBJECTIVE: The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal-fetal potential complications, and most likely perinatal outcomes...
November 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29037547/prenatal-diagnosis-of-umbilical-cord-cyst-clinical-significance-and-prognosis
#15
Leyre Ruiz Campo, Ricardo Savirón Cornudella, Francisco Gámez Alderete, Cristina Martínez-Payo, Pilar Pérez Pérez, Pilar Garrido Fernández, Diego Lerma Puertas
OBJECTIVE: Clarify the prognosis of the prenatal ultrasound diagnosis of umbilical cord cysts at any gestation trimester and to assess the ultrasound findings and chromosomal alterations associated to this entity. MATERIALS AND METHODS: Between 2003 and 2015 a multicenter study was carried out, collecting, in five centers in Spain, the associated findings and perinatal outcomes of 27 cases of umbilical cord cysts, regardless of gestational age of diagnosis. A bibliographic review was conducted to identify previous studies in order to compare them with our data...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28913555/outcome-of-intrahepatic-portosystemic-shunt-diagnosed-prenatally
#16
Bérengère Francois, Fréderic Gottrand, Alain Lachaux, Corinne Boyer, Bernard Benoit, Stéphanie De Smet
We analyzed the characteristics of the population with congenital portosystemic shunt diagnosed during the antenatal period and the organization of their perinatal care. This multicentric retrospective study included all the patients with a prenatal diagnosis of congenital portosystemic shunt. Between 1999 and 2015, 12 patients were included. Prenatal diagnosis was done at a median 26.5 weeks of gestation (21-34). All the patients presented intrahepatic CPSS, three of them had associated congenital cardiopathy, and one a Bannayan-Zonana syndrome...
December 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28892921/a-rare-case-of-genital-malformation-with-omphalocele-exstrophy-of-bladder-imperforate-anus-and-spinal-defect-complex-autopsy-findings
#17
K Mamatha, B R Yelikar, Varsha R Deshpande, B S Disha
Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4(th) week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#18
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
December 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28698954/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-other-major-defects-and-pregnancy-complications
#19
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester screening...
October 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#20
Eléonore Blondiaux, Stéphanie Valence, Stéphanie Friszer, Diana Rodriguez, Lydie Burglen, Hubert Ducou le Pointe, Marie Blouet, Catherine Garel
OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data...
July 5, 2017: Fetal Diagnosis and Therapy
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