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https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#1
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29227690/effect-of-the-induction-of-transgenerational-obesity-on-maternal-fetal-parameters
#2
Thaigra Sousa Soares, Ana Paula Andreolla, Carolina Abreu Miranda, Eduardo Klöppel, Luhara Silva Rodrigues, Rafaianne Queiroz Moraes-Souza, Débora Cristina Damasceno, Gustavo Tadeu Volpato, Kleber Eduardo Campos
Maternal obesity can cause complications for both women and their offspring for generations. Therefore, we intended to verify the repercussions of induction of transgenerational obesity on biochemical parameters, reproductive performance, and congenital anomaly frequency in Wistar rats. Female rats were used from successive generations. The female rats of parental generation (F0, n=10) were mated to obtain their offspring (F1 generation). F1 female rats received a monosodium glutamate (MSG) solution to induce obesity (n=07) or vehicle (control, n=06) during the neonatal period...
December 11, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29221468/fever-in-pregnancy-and-the-risk-of-congenital-malformations-a-cohort-study
#3
L Sass, S K Urhoj, J Kjærgaard, J W Dreier, K Strandberg-Larsen, A-M Nybo Andersen
BACKGROUND: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester was associated with an increased risk of congenital malformations in the offspring...
December 8, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29215158/congenital-diaphragmatic-hernia-with-heart-defect-has-a-high-risk-for-hypoplastic-left-heart-syndrome-and-major-extra-cardiac-malformations-10-year-national-cohort-from-finland
#4
Johanna Hautala, Emma Karstunen, Annukka Ritvanen, Risto Rintala, Ilkka P Mattila, Juha Räsänen, Pertti K Suominen, Tiina Ojala
INTRODUCTION: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. MATERIAL AND METHODS: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies...
December 7, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29207745/bilateral-persistent-hyperplastic-primary-vitreous-a-rare-case-report
#5
Rashmi Kumari, Bhawesh Chandra Saha
Persistent Hyperplastic Primary Vitreous (PHPV), now-a-days referred to as Persistent Fetal Vasculature (PFV), is a rare congenital anomaly of the eye that typically presents unilaterally with white pupillary reflex and microphthalmia without systemic associations. Bilateral presentations are rare. Here we report a case of 15-year-old male with bilateral PFV without leucokoria who was misdiagnosed as congenital esotropia with amblyopia, treated for refractive errors and referred to higher centre for squint corrections...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200473/effect-of-premature-rupture-of-membranes-on-induction-of-labor-a-historical-cohort-study
#6
Sven Kehl, Christel Weiss, Ulf Dammer, Friederike Baier, Florian Faschingbauer, Matthias W Beckmann, Marc Sütterlin, Jutta Pretscher
Objective: The aim of this study was to assess the influence of premature rupture of membranes (PROM) on the induction of labor. Material and Method: This historical cohort study analyzed 1861 inductions of labor at term using misoprostol which occurred between 2010 and 2015. Exclusion criteria included intrauterine fetal death, previous cesarean section, and fetal structural or chromosomal anomalies. Induction of labor for PROM (PROM group) was compared to induction for other indications (no-PROM group); the primary outcome measure was the cesarean section rate...
November 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/29198999/society-for-fetal-urology-classification-versus-urinary-tract-dilation-grading-systems-for-prognostication-in-prenatal-hydronephrosis-a-time-to-resolution-analysis
#7
Luis H Braga, Melissa McGrath, Forough Farrokhyar, Kizanee Jegatheeswaran, Armando J Lorenzo
PURPOSE: The Urinary Tract Dilation (UTD) grading system for prenatal hydronephrosis (HN) was introduced to address potential shortcomings of the SFU classification. HN resolution is an important patient outcome and frequently discussed during family counselling. Herein we compare these two grading systems and their ability to predict time to HN resolution. MATERIALS AND METHODS: 855 prospectively screened patients between 2009-2015 with prenatal HN due to uretero-pelvic junction-like, primary non-refluxing megaureter or vesico-ureteral reflux; with 454 being excluded due to surgeries, late referrals, absence of postnatal dilation and presence of other anomalies, resulting in 401 eligible patients to be included for analyses...
November 30, 2017: Journal of Urology
https://www.readbyqxmd.com/read/29197487/no-352-technical-update-the-role-of-early-comprehensive-fetal-anatomy-ultrasound-examination
#8
Ori Nevo, Richard Brown, Phyllis Glanc, Ken Lim
OBJECTIVE: This guideline presents an evidence-based technical update and recommendations for the performance of early comprehensive fetal anatomic scanning (ECFAS) at 11 to 16 weeks' gestation. OPTIONS: Patients at high risk for fetal anomalies and in whom traditional mid-second trimester transabdominal imaging may be challenging or who may benefit from earlier identification of fetal anomalies may be suitable for early fetal anatomy scanning. OUTCOMES: This practice may result in earlier identification of fetal anomalies and provide earlier intervention options in high-risk populations and/or in populations where mid-second trimester transabdominal scanning is challenging...
December 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29194579/targeted-gene-sequencing-and-whole-exome-sequencing-in-autopsied-fetuses-with-prenatally-diagnosed-kidney-anomalies
#9
M Rasmussen, L Sunde, M L Nielsen, M Ramsing, A Petersen, T D Hjortshøj, T E Olsen, A Tabor, J M Hertz, I Johnsen, L Sperling, O B Petersen, U B Jensen, F G Møller, M B Petersen, D L Lildballe
Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney-panel...
November 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29193896/in-utero-ultrasound-diagnosis-of-corpus-callosum-agenesis-leading-to-the-identification-of-orofaciodigital-type-1-syndrome-in-female-fetuses
#10
Caroline Alby, Lucile Boutaud, Maryse Bonnière, Sophie Collardeau-Frachon, Laurent Guibaud, Estelle Lopez, Ange-Line Bruel, Bernard Aral, Pascale Sonigo, Philippe Roth, Claude Vibert-Guigue, Vanina Castaigne, Bruno Carbonne, Nicole Joyé, Laurence Faivre, Marie-Pierre Cordier, Antoinette Bernabe Gelot, Maurizio Clementi, Isabella Mammi, Michel Vekemans, Féréchté Razavi, Marie Gonzales, Christel Thauvin-Robinet, Tania Attié-Bitach
BACKGROUND: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis...
November 28, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29193240/intracranial-fetus-in-fetu-with-numerous-fully-developed-organs
#11
Kuntharee Traisrisilp, Kasemsri Srisupundit, Songkiet Suwansirikul, Thunya Norasetthada, Shanika Kosarat, Theera Tongsong
Fetus in fetu (FIF) is an extremely rare anomaly featuring a monozygotic, diamniotic, parasitic twin, enclosed within its host twin. It is characterized by the presence of vertebrae and well-developed organs in a fetiform mass. Only 18 cases of intracranial FIF have been published. Of them, only five cases were prenatally detected. This study prenatally demonstrated triplet FIFs at 31 weeks within amniotic-like sac in the fetal skull, consisting of multiple well-defined organs. The FIF attached to the host twin via body stalk containing a single main feeding artery and vein, representing umbilical vessels...
November 28, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#12
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#13
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29187580/computer-aided-recognition-of-facial-attributes-for-fetal-alcohol-spectrum-disorders
#14
Matthew Valentine, Dustin C J Bihm, Lior Wolf, H Eugene Hoyme, Philip A May, David Buckley, Wendy Kalberg, Omar A Abdul-Rahman
OBJECTIVES: To compare the detection of facial attributes by computer-based facial recognition software of 2-D images against standard, manual examination in fetal alcohol spectrum disorders (FASD). METHODS: Participants were gathered from the Fetal Alcohol Syndrome Epidemiology Research database. Standard frontal and oblique photographs of children were obtained during a manual, in-person dysmorphology assessment. Images were submitted for facial analysis conducted by the facial dysmorphology novel analysis technology (an automated system), which assesses ratios of measurements between various facial landmarks to determine the presence of dysmorphic features...
November 29, 2017: Pediatrics
https://www.readbyqxmd.com/read/29170287/maternal-and-neonatal-outcomes-of-vaginal-breech-delivery-for-singleton-term-pregnancies-in-a-carefully-selected-cameroonian-population-a-cohort-study
#15
Julius Sama Dohbit, Pascal Foumane, Joel Noutakdie Tochie, Fadimatou Mamoudou, Mazou N Temgoua, Ronni Tankeu, Veronica Aletum, Emile Mboudou
BACKGROUND AND OBJECTIVES: Vaginal breech delivery (VBD) is known to be associated with more perinatal and maternal complications. Very few studies on the subject have been carried out in poor-resource settings. The aim of this study was to determine maternal and neonatal outcomes in carefully selected cases of VBD for singleton term pregnancies in a tertiary centre in Cameroon. DESIGN: A retrospective cohort study. SETTING: A tertiary hospital in Yaounde, Cameroon...
November 22, 2017: BMJ Open
https://www.readbyqxmd.com/read/29166819/pregnancy-outcomes-among-women-with-asthma
#16
Haitham Baghlaf, Andrea R Spence, Nicholas Czuzoj-Shulman, Haim Arie Abenhaim
PURPOSE: The purpose of this study is to examine the association between maternal asthma and pregnancy, delivery and neonatal outcomes. MATERIALS AND METHODS: We carried out a retrospective cohort study using the Health Care Cost and Utilization Project-Nationwide Inpatient Sample (HCUP-NIS) database from 2003 to 2011. Among women who delivered during this time period, we compared pregnancy, delivery, and neonatal outcomes in asthmatics versus non-asthmatics. Multivariate logistic regression was used to estimate adjusted odds ratios and 95% confidence intervals...
November 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29166461/presumed-zika-virus-related-congenital-brain-malformations-the-spectrum-of-ct-and-mri-findings-in-fetuses-and-newborns
#17
José Daniel Vieira de Castro, Licia Pacheco Pereira, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar, Joanira Costa Nogueira Maia, Jesus Irajacy Fernandes da Costa, Eveline Campos Monteiro de Castro, Francisco Edson de Lucena Feitosa, Francisco Herlânio Costa Carvalho
OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...
October 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29164364/highlights-on-mri-of-the-fetal-body
#18
REVIEW
Lucia Manganaro, Amanda Antonelli, Silvia Bernardo, Federica Capozza, Roberta Petrillo, Serena Satta, Valeria Vinci, Matteo Saldari, Francesca Maccioni, Laura Ballesio, Carlo Catalano
Fetal MRI is a level III diagnostic tool performed subsequently a level II prenatal ultrasound (US), in cases of inconclusive ultrasonographic diagnosis or when a further investigation is required to confirm or improve the diagnosis, to plan an appropriate pregnancy management. Fetal MRI plays an increasingly important role in the prenatal diagnosis of fetal neck, chest and abdominal malformations, even if its role has been amply demonstrated, especially, in the field of fetal CNS anomalies. Due to its multiparametricity and multiplanarity, MRI provides a detailed evaluation of the whole fetal respiratory, gastrointestinal and genitourinary systems, especially on T2-weighted (W) images, with a good tissue contrast resolution...
November 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/29163993/21-year-old-pregnant-woman-with-mody-5-diabetes
#19
Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail
The term "Maturity-Onset Diabetes of the Young" (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29162956/risk-assessment-at-11-14-week-antenatal-visit-a-tertiary-referral-center-experience-from-south-india
#20
Anusha Vellamkondu, Akhila Vasudeva, Rajeshwari G Bhat, Asha Kamath, Sapna V Amin, Lavanya Rai, Pratap Kumar
Background: Present study carried out in a tertiary referral hospital in South India attempts to determine the predictive value of integrated screening at 11-14-week antenatal visit. Objectives: To determine the detection rate of fetal abnormalities at 11-14 weeks and also to predict the placental dysfunction disorders based on early integrated evaluation. Method: Integrated screening performed on 440 women between 11 and 14 weeks, including detailed maternal history [medical history, bad obstetric history (BOH)], body mass index (BMI), mean arterial pressure (MAP), detailed ultrasound and maternal serum biochemistry as part of combined first-trimester screening for aneuploidy...
December 2017: Journal of Obstetrics and Gynaecology of India
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