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Fetal malformations

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https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#1
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of Magnetic Resonance Imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following an ultrasound diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28915123/placental-examination-in-nonmacerated-stillbirth-versus-neonatal-mortality
#2
Jerzy Stanek
AIM: To retrospectively statistically compare clinical and placental phenotypes of nonmacerated fetuses and live-born perinatal deaths in 3rd trimester pregnancies. METHODS: Twenty-five clinical and 47 placental phenotypes were statistically compared among 93 cases of nonmacerated (intrapartum, or recent antepartum death) 3rd trimester fetal deaths (Group 1), 118 3rd trimester neonatal deaths (Group 2) and 4285 cases without perinatal mortality (Group 3). RESULTS: Sixteen clinical and placental phenotypes were statistically significantly different between Group 3 and the two groups of perinatal deaths, which included eight placental phenotypes of fetal vascular malperfusion and eight other placental phenotypes of various etiology (amnion nodosum, 2-vessel umbilical cord, villous edema, increased extracellular matrix of chorionic villi, erythroblasts in fetal blood and trophoblastic lesions of shallow placentation)...
September 18, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#3
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904658/prenatal-diagnosis-of-caudal-regression-syndrome-and-omphalocele-in-a-fetus-of-a-diabetic-mother
#4
Haifa Bouchahda, Houda El Mhabrech, Hechmi Ben Hamouda, Sobhi Ghanmi, Rim Bouchahda, Habib Soua
The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28903546/cellular-and-molecular-mechanisms-of-viral-infection-in-the-human-placenta
#5
Moises León-Juárez, Macario Martínez-Castillo, Luis Didier González-García, Addy Cecilia Helguera-Repetto, Verónica Zaga-Clavellina, Julio García-Cordero, Arturo Flores-Pliego, Alma Herrera-Salazar, Edgar Ricardo Vázquez-Martínez, Enrique Reyes-Muñoz
The placenta is a highly specialized organ that is formed during human gestation for conferring protection and generating an optimal microenvironment to maintain the equilibrium between immunological and biochemical factors for fetal development. Diverse pathogens, including viruses, can infect several cellular components of the placenta, such as trophoblasts, syncytiotrophoblasts and other hematopoietic cells. Viral infections during pregnancy have been associated with fetal malformation and pregnancy complications such as preterm labor...
September 29, 2017: Pathogens and Disease
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#6
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28885423/early-second-trimester-fetal-growth-restriction-and-adverse-perinatal-outcomes
#7
Lorene A Temming, Jeffrey M Dicke, Molly J Stout, Roxane M Rampersad, George A Macones, Methodius G Tuuli, Alison G Cahill
OBJECTIVE: To estimate the risk of adverse perinatal outcomes among women with isolated fetal growth restriction from 17 to 22 weeks of gestation. METHODS: This was a retrospective cohort study of all singleton, nonanomalous pregnancies undergoing ultrasonography to assess fetal anatomy between 17 and 22 weeks of gestation at a single center from 2010 to 2014. After excluding patients with fetal structural malformations, chromosomal abnormalities, or identified infectious etiologies, we compared perinatal outcomes between pregnancies with and without fetal growth restriction, defined as estimated fetal weight less than the 10th percentile for gestational age...
September 5, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28884206/neonatal-congenital-lung-tumors-the-importance-of-mid-second-trimester-ultrasound-as-a-diagnostic-clue
#8
Stephan L Waelti, Laurent Garel, Dorothée Dal Soglio, Françoise Rypens, Michael Messerli, Josée Dubois
BACKGROUND: The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. OBJECTIVE: The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors...
September 7, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28883820/decidual-macrophage-functional-polarization-during-abnormal-pregnancy-due-to-toxoplasma-gondii-role-for-lilrb4
#9
Zhidan Li, Mingdong Zhao, Teng Li, Jing Zheng, Xianbing Liu, Yuzhu Jiang, Haixia Zhang, Xuemei Hu
During gestation, Toxoplasma gondii infection produces a series of complications including stillbirths, abortions, and congenital malformations. The inhibitory receptor, LILRB4, which is mainly expressed by professional antigen-presenting cells (especially macrophages and dendritic cells) may play an important immune-regulatory role at the maternal-fetal interface. To assess the role of LILRB4 during T. gondii infection, LILRB4(-/-) and T. gondii infected pregnant mouse models were established. Further, human primary-decidual macrophages were treated with anti-LILRB4 neutralizing antibody and then infected with T...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28883729/maternal-exposure-to-nanosized-titanium-dioxide-suppresses-embryonic-development-in-mice
#10
Fashui Hong, Yingjun Zhou, Xiaoyang Zhao, Lei Sheng, Ling Wang
Although nanoscale titanium dioxide (nano-TiO2) has been extensively used in industrial food applications and daily products for pregnant women, infants, and children, its potential toxicity on fetal development has been rarely studied. The main objective of this investigation was to establish the effects of maternal exposure of nano-TiO2 on developing embryos. Female imprinting control region mice were orally administered nano-TiO2 from gestational day 0 to 17. Our findings showed that Ti concentrations in maternal serum, placenta, and fetus were increased in nano-TiO2-exposed mice when compared to controls, which resulted in reductions in the contents of calcium and zinc in maternal serum, placenta, and fetus, maternal weight gain, placental weight, fetal weight, number of live fetuses, and fetal crown-rump length as well as cauda length, and caused an increase in the number of both dead fetuses and resorptions...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28882078/detection-of-fetal-duplication-16p11-2q12-1-by-next-generation-sequencing-of-maternal-plasma-and-invasive-diagnosis
#11
Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang, Min-Yue Dong
OBJECTIVE: The objective of study is to report the feasibility of non-invasive prenatal screening (NIPS) combined with invasive detection by chromosomal analysis in identifying fetal duplication, providing clinical performance of NIPS on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm the positive screening result. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA)...
September 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28881510/-clinical-phenotypes-of-hepatocyte-nuclear-factor-1-homeobox-b-associated-disease
#12
F Wang, Y Yao, H X Yang, C Y Shi, X X Zhang, H J Xiao, H W Zhang, B G Su, Y Q Zhang, J F Guo, J Ding
Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28880692/clinical-outcome-of-pregnancies-with-the-prenatal-double-bubble-sign-a-five-year-experience-from-one-single-centre-in-mainland-china
#13
Yu Yang, Ping He, Dong-Zhi Li
The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks...
September 7, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28872652/rutinunders%C3%A3-kning-med-ultraljud-kan-ge-besked-om-avvikelser-vid-diagnostiserad-missbildning-kr%C3%A3-vs-multidisciplin%C3%A3-rt-omh%C3%A3-ndertagande-av-b%C3%A3-de-foster-och-f%C3%A3-r%C3%A3-ldrar
#14
Jenny Hammarqvist Vejde, Annika Dellgren, Michaela Granfors
Routine pregnancy ultrasound scans can detect malformations. Multidisciplinary care of both the foetus and parent is required following diagnosed malformations In Sweden, all women are invited to at least one ultrasound examination during pregnancy. The »Routine ultrasound screening« is usually performed by a midwife around 18 weeks of gestation. There are several aims of the examination: to check viability, to detect multiple fetuses, to determine the location of the placenta, to check the amount of amniotic fluid, to estimate the date of delivery (if this had not been done earlier) and to detect structural fetal malformations...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28872650/obstetriskt-ultraljud-och-prenatal-diagnostik-i-f%C3%A3-rsta-trimestern-tidig-uppt%C3%A3-ckt-av-kromosomavvikelser-missbildningar-och-graviditetskomplikationer-ger-f%C3%A3-rdelar
#15
Peter Malcus, Peter Conner
Prenatal first trimester fetal diagnosis in Sweden today and in the future The combined first trimester test for detection of trisomy 21 has been available in Sweden the last 10 years but the uptake among pregnant women is still less than 50% and varies largely between different regions. The non-invasive prenatal test (NIPT) has been introduced and is currently recommended to be used as a secondary test only in those women who have an increased risk following the combined test. With falling costs for NIPT and a general offer of this test as a primary screening tool to all women there is concern that the first trimester ultrasound scan will be abandoned...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28865601/relationship-of-the-mthfd1-rs2236225-enos-rs1799983-cbs-rs2850144-and-ace-rs4343-gene-polymorphisms-in-a-population-of-iranian-pediatric-patients-with-congenital-heart-defects
#16
Mehri Khatami, Farzaneh Morteza Ratki, Saba Tajfar, Fatemeh Akrami
Congenital heart defects are structural cardiovascular malformations that arise from abnormal formation of the heart or major blood vessels during the fetal period. To investigate the association of 4 single nucleotide polymorphisms (SNPs) in the MTHFD1, eNOS, CBS and ACE genes, we evaluated their relationship with CHD in Iranian patients. In this case-control study, a total of 102 children with CHD and 98 control children were enrolled. Four SNPs including MTHFD1 G1958A, eNOS G894T, CBS C-4673G and ACE A2350G were genotyped by PCR-SSCP, Multiplex ARMS PCR and PCR-RFLP methods and confirmed by direct sequencing...
September 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#17
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28856023/body-stalk-anomaly-antenatal-sonographic-diagnosis-of-this-rare-entity-with-review-of-literature
#18
Amandeep Singh, Jasmeet Singh, Kamlesh Gupta
Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk. We present a case of body stalk anomaly diagnosed during antenatal sonographic evaluation at the first visit with the review of literature regarding this phenomenon. Sonographic features of the fetus included a severe midline defect of the fetal abdominal wall with a large extra-abdominal mass containing bowel and liver inside...
June 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28845622/for-debate-does-cannabis-use-by-the-pregnant-mother-affect-the-fetus-and-newborn
#19
EDITORIAL
Paul Merlob, Bracha Stahl, Gil Klinger
Cannabis, commonly called marijuana, is often used during pregnancy, likely due to the perception that it is a "safe" drug. Changes in legislation in many countries have lead to the increased availability of this drug and to its increasing use during pregnancy, often with other concomitant exposures such as alcohol, tobacco, and other drugs. Herein, we review the medical literature regarding effects of marijuana on the fetus and newborn. Possible effects of in utero exposure to marijuana focus on fetal growth, increase in the rates of stillbirth and preterm delivery, congenital malformations, and neurodevelopmental effects on the child...
September 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28840519/neighborhood-disadvantage-is-associated-with-high-cytomegalovirus-seroprevalence-in-pregnancy
#20
Paul M Lantos, Kate Hoffman, Sallie R Permar, Pearce Jackson, Brenna L Hughes, Amy Kind, Geeta Swamy
BACKGROUND: Cytomegalovirus (CMV) is the most common infectious cause of fetal malformations and childhood hearing loss. CMV is more common among socially disadvantaged groups, and geographically clusters in poor communities. The Area Deprivation Index (ADI) is a neighborhood-level index derived from census data that reflects material disadvantage. METHODS: We performed a geospatial analysis to determine if ADI predicts the local odds of CMV seropositivity. We analyzed a dataset of 3527 women who had been tested for CMV antibodies during pregnancy...
August 24, 2017: Journal of Racial and Ethnic Health Disparities
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