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https://www.readbyqxmd.com/read/29785155/the-volume-of-the-cerebellum-in-the-second-semester-of-gestation
#1
Damiana Vulturar, Alexandru Fărcăşanu, Flaviu Turcu, Dan Boitor, Carmen Crivii
Background and aims: The cerebellum ("little brain"), the largest part of hind brain, lies in the posterior cranial fossa, beneath the occipital lobe and dorsal to the brainstem. It develops over a long period: it is one of the first structures in the brain to begin to differentiate, but one of the last to mature. The use of ultrasonography has significantly improved the evaluation of fetal growth and development and has permitted prenatal diagnosis of a variety of congenital malformations...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#2
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#3
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#4
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29754832/ondansetron-in-pregnancy-and-the-risk-of-congenital-malformations-a-systematic-review
#5
Melissa Lavecchia, Radha Chari, Sandra Campbell, Sue Ross
OBJECTIVE: Ondansetron, not approved for use in pregnancy, is increasingly being prescribed for nausea and vomiting in pregnancy and hyperemesis gravidarum. A number of recent lawsuits have highlighted the possibility that ondansetron may cause congenital malformations. The aim of this study was to systematically review epidemiological evidence on the potential association of prenatal exposure to ondansetron and congenital malformations. METHODS: Systematic searches in Medline and Embase were performed in June 2017 using controlled vocabulary and key words, and references of search results were reviewed...
May 10, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29754396/the-upper-pouch-in-oesophageal-atresia-shows-proportional-growth-during-late-fetal-life
#6
R B Tröbs, M Nissen, J Wald
Oesophageal atresia with trachea-oesophageal fistula is a rare foregut malformation that requires surgery soon after birth. Prenatal ultrasound diagnosis is based on the presence of polyhydramnios, a small or non-visible fetal stomach and the blind ending oesophagus, called the upper pouch (1). Neonates present with salivation, coughing, choking and attacks of cyanosis. A diagnosis of oesophageal atresia is confirmed by inserting a nasogastric tube and a thoraco-abdominal X-ray. This article is protected by copyright...
May 12, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29749239/a-novel-fetal-sequence-patogenesis-resulting-in-oral-meningoencephalocele
#7
M Gabor, P Papcun, Jr M Krizko, Z Cierna, V Ferianec
OBJECTIVES: To analyze a rare triad of intracranial fetal pathologies and clinical study of the novel defined sequence pathogenesis based on prenatal and postmortem findings. METHODS: Complex multidisciplinary clinical analysis and review of up-to-date literature. RESULTS: In an 18-gestational-week fetus the screening ultrasound scan resembled the semilobar type of holoprosencephaly and oral tumor. After the indicated termination of pregnancy, the histopathology results confirmed another pathologies - oral meningoencephalocele, teratoma of the sellar area and large arachnoidal cyst of the anterior cerebral fossa...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29744644/an-epigenetic-association-of-malformations-adverse-reproductive-outcomes-and-fetal-origins
#8
Mark Lubinsky
VACTERL, the prototype for associated congenital anomalies, also has connections with functional issues such as pregnancy losses, prematurity, growth delays, perinatal difficulties, and parental subfertility. This segues into a broader association with similar connections even in the absence of malformations. DNA methylation disturbances in the ovum are a likely cause, with epigenetic links to individual components and to folate effects before conception, explaining diverse fetal and placental findings and providing a link to fetal origin hypothesis-related effects...
May 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29743740/evaluation-of-the-fetal-abdomen-by-magnetic-resonance-imaging-part-1-malformations-of-the-abdominal-cavity
#9
Ana Paula Pinho Matos, Luciana de Barros Duarte, Pedro Teixeira Castro, Pedro Daltro, Heron Werner Júnior, Edward Araujo Júnior
Although ultrasound continues to be the mainstay modality for the evaluation of fetal disorders, fetal magnetic resonance imaging (MRI) has often been used as a valuable adjunct in recent years. The exponential growth of the use of fetal MRI has been facilitated by technological advancements such as ultrafast T2-weighted sequences and diffusion-weighted imaging. Fetal MRI can achieve results that are comparable to or better than those of ultrasound, particularly in cases of maternal obesity, severe oligohydramnios, or abnormal fetal position...
March 2018: Radiologia Brasileira
https://www.readbyqxmd.com/read/29742659/anhydramnios-in-the-setting-of-renal-malformations-the-national-institutes-of-health-workshop-summary
#10
Marva Moxey-Mims, Tonse N K Raju
Anhydramnios in the setting of severe malformations of the fetal kidney and urinary tract is associated with a high incidence of stillbirths and life-threatening complications, including severe pulmonary hypoplasia, umbilical cord compression, and perinatal asphyxia. To prevent such adverse outcomes, some centers in the United States and elsewhere are offering amniotic fluid restoration for women diagnosed with anhydramnios in the setting of fetal renal malformations. The procedures include infusions of amniotic fluid substitutes (normal saline), percutaneously or through an amnioport-an implanted system for serial or continuous infusion of normal saline to maintain the desired amniotic fluid volume...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29739244/the-relationship-between-some-neonatal-and-maternal-factors-during-pregnancy-with-the-prevalence-of-congenital-malformations-in-iran-a-systematic-review-and-meta-analysis
#11
Salman Daliri, Hamid Safarpour, Jafar Bazyar, Kourosh Sayehmiri, Arezoo Karimi, Rahman Anvary
INTRODUCTION: Congenital malformations are one of the main causes of death and disability in children. These malformations arise during embryogenesis and fetal development during pregnancy due to exposure to some environmental factors and genetic mutations. Given the high prevalence of congenital malformations in Iran, the current study was conducted to investigate the relationship between some neonatal and maternal factors during pregnancy with the prevalence of congenital malformations in Iran...
May 8, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29737941/are-congenital-urinary-tract-abnormalities-linked-to-maternal-methylenetetrahydrofolate-reductase-polymorphisms-in-fetuses-of-intentionally-terminated-pregnancies-with-oligo-or-anhydramnios
#12
M Sinan Beksac, Alp Tuna Beksac, Melek Buyukeren, Atakan Tanacan, Hatice Bektas, Safak Gucer
OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases...
May 8, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29734144/long-term-neurodevelopmental-and-respiratory-outcome-after-intrauterine-therapy-for-fetal-thoracic-abnormalities
#13
Ruben S G M Witlox, Enrico Lopriore, Monique Rijken, Frans J C M Klumper, Dick Oepkes, Jeanine M M van Klink
INTRODUCTION: The aim of this study is to evaluate long-term neurodevelopmental and respiratory outcome after fetal therapy for fetal pleural effusion, congenital cystic adenomatoid malformation, and bronchopulmonary sequestration. METHODS: Children ≥18 months of age underwent an assessment of neurologic, motor, and cognitive development. Medical records were reviewed to determine respiratory outcome. Behavioral outcome was assessed using the Child Behavioral Checklist...
May 7, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29728721/characterization-of-the-placenta-in-the-newborn-with-congenital-heart-disease-distinctions-based-on-type-of-cardiac-malformation
#14
Jack Rychik, Donna Goff, Eileen McKay, Antonio Mott, Zhiyun Tian, Daniel J Licht, J William Gaynor
The placenta is a complex organ that influences prenatal growth and development, and through fetal programming impacts postnatal health and well-being lifelong. Little information exists on placental pathology in the presence of congenital heart disease (CHD). Our objective is to characterize the placenta in CHD and investigate for distinctions based on type of malformation present. Placental pathology from singleton neonates prenatally diagnosed and delivered at > 37 weeks gestation was analyzed. Placental findings of absolute weight, placental weight-to-newborn birth weight ratio, chorangiosis, villus maturity, thrombosis, and infarction were recorded and analyzed based on four physiological categories of CHD: (1) single ventricle-aortic obstruction, (2) single ventricle-pulmonic obstruction, (3) two-ventricle anomalies, and (4) transposition of the great arteries (TGA)...
May 4, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29720579/congenital-esophageal-atresia-and-microtia-in-a-newborn-secondary-to-mycophenolate-mofetil-exposure-during-pregnancy-a-case-report-and-review-of-the-literature
#15
Musaed Mohammed Alsebayel, Faisal Abdulrahman Abaalkhail, Faisal Mohammed Alsebayel, Dema A Alissa, Ahmed Hamdan Al-Jedai, Hussien Elsiesy
BACKGROUND Mycophenolate mofetil (MMF) is one of the most commonly prescribed drugs to prevent organ transplant rejection in combination with calcineurin inhibitors and steroids. It has a different toxicity profile than tacrolimus and cyclosporine.  Gastrointestinal tract disturbances are the most common adverse effects. The use of MMF in pregnant women, however, holds great risk of miscarriage and fetal development defects such as external ear malformation, ocular anomalies, cleft lip and palate, and abnormality of distal limbs, heart, esophagus, and kidneys...
May 3, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29720002/early-prenatal-ultrasound-diagnosis-of-congenital-thoracic-malformations
#16
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/29717225/experimental-zika-virus-infection-in-the-pregnant-common-marmoset-induces-spontaneous-fetal-loss-and-neurodevelopmental-abnormalities
#17
Maxim Seferovic, Claudia Sánchez-San Martín, Suzette D Tardif, Julienne Rutherford, Eumenia C C Castro, Tony Li, Vida L Hodara, Laura M Parodi, Luis Giavedoni, Donna Layne-Colon, Manasi Tamhankar, Shigeo Yagi, Calla Martyn, Kevin Reyes, Melissa A Suter, Kjersti M Aagaard, Charles Y Chiu, Jean L Patterson
During its most recent outbreak across the Americas, Zika virus (ZIKV) was surprisingly shown to cause fetal loss and congenital malformations in acutely and chronically infected pregnant women. However, understanding the underlying pathogenesis of ZIKV congenital disease has been hampered by a lack of relevant in vivo experimental models. Here we present a candidate New World monkey model of ZIKV infection in pregnant marmosets that faithfully recapitulates human disease. ZIKV inoculation at the human-equivalent of early gestation caused an asymptomatic seroconversion, induction of type I/II interferon-associated genes and proinflammatory cytokines, and persistent viremia and viruria...
May 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29712482/does-pregnancy-interval-after-laparoscopic-sleeve-gastrectomy-affect-maternal-and-perinatal-outcomes
#18
Alper Basbug, Aşkı Ellibeş Kaya, Sami Dogan, Mevlut Pehlivan, Gokhan Goynumer
BACKGROUND: Obesity is a global health epidemic and is associated with many maternal and neonatal complications. Laparoscopic sleeve gastrectomy (LSG) is among the surgical treatments for obesity. The appropriate timing of pregnancy following LSG remains controversial and few studies have evaluated this public health issue. OBJECTIVE: To evaluate the effect of pregnancy timing after LSG on maternal and perinatal outcomes. STUDY DESIGN: We performed a retrospective observational study of 23 pregnant women who underwent LSG at a tertiary hospital in Turkey...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#19
Barbara Scelsa, Mariangela Rustico, Andrea Righini, Cecilia Parazzini, Marina Antonella Balestriero, Paola Introvini, Luigina Spaccini, Massimo Mastrangelo, Gianluca Lista, Gian Vincenzo Zuccotti, Pierangelo Veggiotti
OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29700085/valproate-life-saving-life-changing
#20
Rhys H Thomas
Antiepileptic medications, and valproate principally, are commonly prescribed teratogens. There is significant concern that we are not doing enough to educate clinicians and potential parents about the risks of valproate in pregnancy. There is clear advice from the Medicines and Healthcare products Regulatory Agency and the International League Against Epilepsy about the risks of valproate exposure in utero Reviews and guidelines that are focused on fetal risk, however, fall short in being able to fully replicate the complexity of a real clinical decision...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
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