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fetal anomalies

Erol Arslan, Selim Büyükkurt, Mete Sucu, Mehmet Özsürmeli, Selahattin Mısırlıoğlu, S Cansun Demir, I Cüneyt Evrüke
OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomical screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with a careful examination. MATERIAL AND METHODS: This was a descriptive study retrospective data that was obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
Ramona Weber, Rainer Hospes, Axel Wehrend
The aim of this study was to summarize the current status of the possible causes, clinical symptoms and pathogenesis of abortion in the mare and to evaluate the frequency of varying causes of abortion in German thoroughbred breeding. An analysis of the literature using electronic libraries, journals and textbooks was performed. In addition, the results of examinations of 123 abortions of thoroughbred breeding in central Germany were evaluated. In the literature, bacterial infections are the most frequently described cause of abortion...
February 2018: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Rachel A Pilliod, David R Pettersson, Thomas Gibson, Ladawna Gievers, Amanda Kim, Roya Sohaey, Karen Y Oh, Brian L Shaffer
BACKGROUND: Absence of the CSP on prenatal imaging is historically associated with additional anomalies, however recently cases of isolated, absent CSP have also been identified. This study seeks to assess the accuracy of prenatal imaging in evaluating isolated, absent CSP and to describe the spectrum of clinical outcomes. METHODS: This is a retrospective observational study of all prenatally diagnosed absent CSP cases between 2011 and 2016 at our institution. Cases with additional structural parenchymal abnormalities were excluded...
March 13, 2018: Prenatal Diagnosis
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
Kyle K Jensen, Karen Y Oh, Anne M Kennedy, Roya Sohaey
Intrauterine linear echogenicity (ILE) is a common ultrasonographic finding in the gravid uterus and has variable causes and variable maternal and fetal outcomes. Correctly categorizing ILE during pregnancy is crucial for guiding surveillance and advanced imaging strategies. Common causes of ILE include membranes in multiple gestations, uterine synechiae with amniotic sheets, and uterine duplication anomalies. Less common causes include circumvallate placenta, chorioamniotic separation, and hemorrhage between membranes...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Elizabeth Snyder, Ahmet Baschat, Thierry A G M Huisman, Aylin Tekes
OBJECTIVE: The purpose of this article is to present illustrative cases highlighting the value of fetal MRI as a problem-solving tool in evaluating anomalies of the fetal chest, abdomen, and pelvis that are being evaluated for fetal therapy. CONCLUSION: Fetal MRI is an increasingly valuable noninvasive tool for evaluating fetal anomalies in the age of fetal therapy. Although ultrasound remains the primary diagnostic imaging modality, MRI can provide additional information to assist parental counseling and patient care...
March 12, 2018: AJR. American Journal of Roentgenology
Camille Sauvageot, Jean-Michel Faure, Eve Mousty, Anaïg Flandrin, Dominique Forgues, Olivier Prodhomme, Florent Fuchs
OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care Center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0...
March 12, 2018: Prenatal Diagnosis
S Lindsay Wood, John Owen, Sheri M Jenkins, Lorie M Harper
INTRODUCTION:  Although guidelines recommend repeat ultrasound in the setting of an incomplete fetal anatomic survey, the clinical utility of this practice has not been established. As such, we aimed to assess the yield of repeat ultrasound for anomaly detection following an incomplete survey. MATERIALS AND METHODS:  This is a retrospective cohort study of all singletons who underwent a midtrimester anatomic ultrasound at University of Alabama at Birmingham (UAB) from 2006 to 2014...
February 8, 2018: American Journal of Perinatology
Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
March 6, 2018: Early Human Development
Laura Schummers, Jennifer A Hutcheon, Michele R Hacker, Tyler J VanderWeele, Paige L Williams, Thomas A McElrath, Sonia Hernandez-Diaz
BACKGROUND: First deliveries in women older than 35, 40, or 45 are at increased risk for adverse pregnancy outcomes compared with those in younger women. However, specific relationships between each additional year of maternal age and pregnancy risks remain unclear, and absolute risks at each maternal age are not known. METHODS: Using a population-based cohort of nulliparous women in British Columbia, Canada, from 2004-2014 (n=203,414), We examined relationships between maternal age (modeled flexibly to allow curvilinear shapes) and pregnancy outcomes using logistic regression...
March 6, 2018: Epidemiology
I N Aboobacker, A Krishnakumar, S Narayanan, B Hafeeque, J C Gopinathan, F Aziz
Nail-Patella syndrome (NPS) is an inherited disease with characteristic nail, limb, and renal anomalies. While almost all patients manifest classical skeletal and nail abnormalities, renal involvement is seen in only 40% of patients. Asymptomatic proteinuria is the most common renal presentation. Although a substantial number of patients can progress to nephrotic range proteinuria, development of end-stage kidney disease is rare. Pathological abnormalities are appreciable only by electron microscopy. Our patient who had not been diagnosed with NPS previously presented with new-onset proteinuria during the second trimester of her first pregnancy...
January 2018: Indian Journal of Nephrology
Wilfredo Villamonte-Calanche, Gloria Yabar-Galdos, María Jerí-Palomino, Nathan Andrew Wilson
OBJECTIVE: To describe the 3rd, 10th, 50th, 90th, and 97th percentile of weight, length, ponderal index (PI), head circumference (HC), and head circumference for birthweight index (HCBWI). METHODS: Descriptive, retrospective, and transverse study performed in the Adolfo Guevara Velazco National Hospital (AGVNH) at 3400 m above sea level between January 2005 and December 2010. The main inclusion criteria were singleton pregnancy, term gestational age, and absence of fetal structural anomalies...
March 7, 2018: Journal of Maternal-fetal & Neonatal Medicine
Nischay Mishra, Adrian Caciula, Adam Price, Riddhi Thakkar, James Ng, Lokendra V Chauhan, Komal Jain, Xiaoyu Che, Diego A Espinosa, Magelda Montoya Cruz, Angel Balmaseda, Eric H Sullivan, Jigar J Patel, Richard G Jarman, Jennifer L Rakeman, Christina T Egan, Chantal B E M Reusken, Marion P G Koopmans, Eva Harris, Rafal Tokarz, Thomas Briese, W Ian Lipkin
Zika virus (ZIKV) is implicated in fetal stillbirth, microcephaly, intracranial calcifications, and ocular anomalies following vertical transmission from infected mothers. In adults, infection may trigger autoimmune inflammatory polyneuropathy. Transmission most commonly follows the bite of infected Aedes mosquitoes but may also occur through sexual intercourse or receipt of blood products. Definitive diagnosis through detection of viral RNA is possible in serum or plasma within 10 days of disease onset, in whole blood within 3 weeks of onset, and in semen for up to 3 months...
March 6, 2018: MBio
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
Anilawan Smitthimedhin, Angela Suarez, Ryan L Webb, Hansel J Otero
Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive...
March 3, 2018: Abdominal Radiology
Aamisha Gupta, Dennis VanLoozen, Anastasios C Polimenakos, Kenneth A Murdison
Anomalous origin of one pulmonary artery from the ascending aorta is a rare congenital anomaly. Even more rarely reported is its presence in conjunction with persistent pulmonary hypertension of the newborn (PPHN). We present a case of a full-term infant, initially thought to have PPHN and later found to have anomalous origin of the right pulmonary artery from the ascending aorta. We discuss our management concept which included use of PgE1 infusion to restore fetal circulation prior to surgical treatment in this unique clinical scenario...
March 2, 2018: Pediatric Cardiology
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