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Fetal diagnosis

Flavia Westphal, Suzete Maria Fustinoni, Vânia Lopes Pinto, Patrícia de Souza Melo, Anelise Riedel Abrahão
Objective: To identify the profile of women seen in a Fetal Medicine unit, diagnosed with fetal abnormality incompatible with neonatal survival in their current pregnancy, and to check the association of gestational age upon diagnosis with the option of pregnancy termination. Methods: This is a retrospective cohort study carried out in the Fetal Medicine Outpatients Clinic of a university hospital, in the city of São Paulo (SP), Brazil, using medical records of pregnant women with fetus presenting abnormalities incompatible with neonatal survival...
July 2016: Einstein
Margaret Loyet, Amy McLean, Karen Graham, Cheryl Antoine, Kathy Fossick
BACKGROUND: Women carrying a fetus with a suspected or known fetal anomaly have complex needs such as emotional and informational support and help with the logistical aspects of arranging care and treatment from numerous specialists. IMPROVEMENT IN QUALITY OF CARE FOR WOMEN CARRYING A FETUS WITH A SUSPECTED OR KNOWN FETAL ANOMALY:: Our fetal care team was initiated in 2012 to meet the needs of this high-risk pregnant population. The fetal care team nurse coordinator supports the woman and her family through all aspects of care during the pregnancy and neonatal period including scheduling appointments with multiple specialists, being there with her as a support person, keeping her updated, making sure she has accurate information about the fetal diagnosis, and helping her to navigate the complex healthcare system...
November 2016: MCN. the American Journal of Maternal Child Nursing
Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishnan, Sunil Jaiman, Meenu Batra, Gopinathan Kannoly
The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity...
October 18, 2016: Journal of Clinical Ultrasound: JCU
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Marta Ferro, Hada C Macher, Pilar Noguerol, Pilar Jimenez-Arriscado, Patrocinio Molinero, Juan M Guerrero, Amalia Rubio
Fetal and Neonatal alloimmune thrombocytopenia (FNAIT) is a condition which could occur when pregnant women develop an alloimmunization against paternally inherited antigens of the fetal platelets. Approximately 80 % of FNAIT cases are caused by anti-HPA-1a, about 15 % by anti-HPA-5b and 5 % by other HPA antibodies. Only 2 % of the total population is HPA-1a negative (HPA-1b1b). The HPA-1a allele differs by one single nucleotide from HPA-1b allele, yet it represents around 27 % of total severe thrombocytopenias...
2016: Advances in Experimental Medicine and Biology
Pramod K Guru, Devon M Ramaeker, Arundhathi Jeybalan, Nirav A Shah, Sheldon Bastacky, Kelly V Liang
Pregnancy-related renal diseases are unique and need special attention, both for diagnosis and management. The major confounding factors for diagnosis are the physiological multiorgan changes that occur throughout the gestational period. Proper diagnosis of the renal disease is also important, given the impact of varied management options both on the maternal and fetal health. A young middle-aged female with a long-standing history of diabetes presented to the hospital with worsening proteinuria in her second trimester of pregnancy...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
A Mekinian, J Cohen, G Kayem, L Carbillon, P Nicaise-Roland, B Gaugler, E Darai, M Bornes, O Fain
About 1-3% of women experience early recurrent miscarriages, defined by ≥3 fetal loss before 14 weeks of gestation. About half of these recurrent early miscarriages could be related to a genetic cause. Pre-implantation genetic diagnosis is used in several European countries, but it is still prohibited in France except for couples at risk for transmission of severe genetic diseases. The immune dysregulation, and in particular allo-immune excessive response, could be responsible for fetal loss in remaining cases, although currently we lack biomarker to confirm the immune-mediated fetal loss...
October 14, 2016: La Revue de Médecine Interne
Ayaka Kawabe, Liangcheng Wang, Atsuko Kikugawa, Yuko Shibata, Kenichi Kuromaki, Akiyoshi Takagi
OBJECTIVE: Uterine rupture is a rare but serious obstetric complication. However, prediction and diagnosis at an early stage remain difficult. Herein, we report a case of primary uterine rupture found earlier by a specific symptom. CASE REPORT: A 29-year-old patient was scheduled to undergo a cesarean section (CS) due to placenta previa. However, at Week 35, she began experiencing abdominal pain and uterine contractions. Subsequently, she began experiencing severe pain, which was enhanced by fetal movements...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. MATERIALS AND METHODS: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Emire Seyahi
PURPOSE OF REVIEW: Takayasu arteritis has long been considered as an uncommon disease, rather specific to the Far-East; however recent surveys show that the disease can be seen in all ethnicities around the world with increasing prevalence rates. Nowadays, it would not be fair to consider Takayasu arteritis as a rare disease. RECENT FINDINGS: Although involvement of the thoracic aorta and its branches was more common among females, males had a tendency toward limited involvement of the abdominal aorta and its branches...
September 29, 2016: Current Opinion in Rheumatology
Anna E Austin, Catherine J Vladutiu, Kathleen A Jones-Vessey, Tammy S Norwood, Scott K Proescholdbell, M Kathryn Menard
INTRODUCTION: Injuries, including those resulting from violence, are a leading cause of death during pregnancy and the postpartum period. North Carolina, along with other states, has implemented surveillance systems to improve reporting of maternal deaths, but their ability to capture violent deaths is unknown. The purpose of this study was to quantify the improvement in ascertainment of pregnancy-associated suicides and homicides by linking data from the North Carolina Violent Death Reporting System (NC-VDRS) to traditional maternal mortality surveillance files...
November 2016: American Journal of Preventive Medicine
Andrea G Edlow, Brian L Edlow, Jonathan A Edlow
Acute neurologic symptoms in pregnant and postpartum women may be caused by exacerbation of a preexisting neurologic condition, the initial presentation of a non-pregnancy-related problem, or a new neurologic problem. Pregnant and postpartum patients with headache and neurologic symptoms are often diagnosed with preeclampsia or eclampsia; however, other etiologies must also be considered. A team approach with close communication between emergency physicians, neurologists, maternal-fetal medicine specialists, and radiologists is the key to obtaining best outcomes...
November 2016: Emergency Medicine Clinics of North America
Sophia S Yu, Lindsay A Bischoff
Owing to the young median age of diagnosis, thyroid cancer in women can coincide with pregnancy and affect its management. The evaluation of a thyroid nodule in pregnant women is similar to that in nonpregnant women, but special consideration must be taken for the impact of a cancer diagnosis and its sequelae in pregnancy. The initial comprehensive exam for pregnant and nonpregnant women includes evaluation of the biochemical function and structure of the thyroid gland, and then fine-needle aspiration biopsy of any suspicious nodule...
October 14, 2016: Seminars in Reproductive Medicine
Moshe Bronshtein, Zeev Blumenfeld, Asaad Choury, Ayala Gover
OBJECTIVES: To assess the natural history and outcome of fetal pulmonary stenosis [PS] detected at 14 to 16 weeks gestation. METHODS: This is a retrospective study, in the years 2004-2015, with serial follow up during pregnancy. Patients referred for complete early fetal ultrasound including all fetal systems and a fetal echocardiogram. Ninety seven percent of the women were low risk, and 3% had risk factors such as maternal type 1 diabetes mellitus, exposure to teratogenic drugs or anomalies in previous pregnancies or in other family members...
October 14, 2016: Ultrasound in Obstetrics & Gynecology
Hannah B Anastasio, Maureen Grundy, Meredith L Birsner, Karin J Blakemore
BACKGROUND: Gestational alloimmune liver disease, a form of profound liver failure in the newborn, is the main underlying cause of the entity formerly known as neonatal hemochromatosis. Antepartum maternal intravenous immunoglobulin (IVIG) has been shown to prevent gestational alloimmune liver disease, which otherwise has a recurrence risk above 90% in subsequent pregnancies. CASE: A 30-year-old woman, gravida 3 para 0120, presented early in gestation. Her previous pregnancy had been complicated by fetal growth restriction, oligohydramnios, and ultimately fatal fulminant neonatal liver failure...
October 6, 2016: Obstetrics and Gynecology
Guijie Qi, Jianping Yi, Baosheng Han, Heng Liu, Wanru Guo, Chong Shi, Lirong Yin
This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups...
October 2016: Medicine (Baltimore)
Lori A Stolz, Uwe Stolz, J Matthew Fields, Turandot Saul, Michael Secko, Matthew J Flannigan, Johnathan M Sheele, Robert P Rifenburg, Anthony J Weekes, Elaine B Josephson, John Bedolla, Dana M Resop, Jonathan Dela Cruz, Megan Boysen-Osborn, Terrell Caffery, Charlotte Derr, Rimon Bengiamin, Gerardo Chiricolo, Brandon Backlund, Jagdipak Heer, Robert J Hyde, Srikar Adhikari
OBJECTIVES: Emergency ultrasound (EUS) has been recognized as integral to the training and practice of emergency medicine (EM). The Council of Emergency Medicine Residency-Academy of Emergency Ultrasound (CORD-AEUS) consensus document provides guidelines for resident assessment and progression. The Accredited Council for Graduate Medical Education (ACGME) has adopted the EM Milestones for assessment of residents' progress during their residency training which includes demonstration of procedural competency in bedside ultrasound...
October 14, 2016: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
Akwugo A Eziefule, Solafa Elshatanoufy, Mili Thakur, Frederico G Rocha
Background Propofol is a widely known, commonly used drug. Complications can occur with the use of this drug, including propofol-related infusion syndrome (PRIS). PRIS, in the obstetric population, has not been documented; however, we report a case of a patient who developed PRIS after an emergent cesarean delivery of a preterm infant. Case Study A 35-year-old multigravida woman presented complaining of leakage of fluid and decreased fetal movement. Her pregnancy was complicated by methadone maintenance therapy due to a history of opioid abuse...
October 2016: American Journal of Perinatology Reports
Li-Hong Wu, Hong-Ning Xie, Dario Paladini, Ju Zheng, Liu Du, Mei-Fang Lin
OBJECTIVES: To establish fetal azygos vein and descending aorta sonographic Z score formulas based on femur length and gestational age and to determine the value of azygos vein diameter variation for potential use in the diagnosis of fetal venous malformations related to the azygos vein. METHODS: A total of 452 healthy singleton fetuses and 25 fetuses with venous malformations related to the azygos vein underwent prenatal sonography in this retrospective study. Azygos vein and descending aorta diameters were measured offline after spatiotemporal image correlation volume acquisition...
October 13, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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