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Prenatal ultrasound

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https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#1
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647786/mosaic-embryo-transfer-after-oocyte-in-vitro-maturation-in-combination-with-non-invasive-prenatal-testing-nipt-first-report-of-a-euploid%C3%A2-live-birth
#2
Naomi Inoue, Rosmary Lopez, Andrea Delgado, Denisse Nuñez, Jimmy Portella, Luis Noriega-Hoces, Luis Guzmán
PURPOSES: The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). METHODS: Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied. RESULTS: One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#3
Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller, Jean-François Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in two genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a hyperechoic colon (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28646194/magnetic-resonance-imaging-of-fetal-persistent-left-superior-vena-cava
#4
Su-Zhen Dong, Ming Zhu
This study aimed to evaluate the diagnostic accuracy of fetal magnetic resonance imaging (MRI) for persistent left superior vena cava (LSVC). Prenatal echocardiography (echo) and/or ultrasound (US) and MRI data for 49 fetuses with persistent LSVC, confirmed via postnatal diagnoses between January 2010 and October 2015, were retrospectively reviewed. All prenatal MRI was performed at 1.5 T. Imaging sequences included steady-state free-precession (SSFP), single-shot turbo spin echo (SSTSE), and other sequences...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#5
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28643667/can-we-perform-a-prenatal-diagnosis-of-vasa-previa-to-improve-its-obstetrical-and-neonatal-outcomes
#6
E Nohuz, E Boulay, D Gallot, D Lemery, F Vendittelli
INTRODUCTION: Vasa previa (VP) is defined as a condition in which the fetal blood vessels, unsupported by the placenta or the umbilical cord, run through the membranes of the lower uterine segment. It is associated with a high risk of stillbirth by exsanguination. This study aimed to assess the clinical context of diagnosis of VP in order to elaborate a strategy for its prenatal diagnosis and to improve its obstetrical and neonatal outcomes. MATERIAL AND METHODS: This historical cohort study covered the period from January 1, 2011 to December 31, 2015...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28641751/fetal-imaging-and-therapy-for-cdh-current-status
#7
Titilayo Oluyomi-Obi, Tim Van Mieghem, Greg Ryan
In congenital diaphragmatic hernia (CDH), herniation of the abdominal organs into the fetal chest causes pulmonary hypoplasia and pulmonary hypertension, the main causes of neonatal mortality. As antenatal ultrasound screening improves, the risk of postnatal death can now be better predicted, allowing for the identification of fetuses that might most benefit from a prenatal intervention. Fetoscopic tracheal occlusion is being evaluated in a large international randomized controlled trial. We present the antenatal imaging approaches that can help identify fetuses that might benefit from antenatal therapy, and review the evolution of fetal surgery for CDH to date...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#8
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28638671/prenatal-diagnosis-of-atrioventricular-block-and-qt-interval-prolongation-by-fetal-magnetocardiography-in-a-fetus-with-trisomy-18-and-scn5a-r1193q-variant
#9
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome
We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28637734/pregnancy-specific-stress-fetoplacental-haemodynamics-and-neonatal-outcomes-in-women-with-small-for-gestational-age-pregnancies-a-secondary-analysis-of-the-multicentre-prospective-observational-trial-to-optimise-paediatric-health-in-intrauterine-growth-restriction
#10
Terri A Levine, Ruth E Grunau, Ricardo Segurado, Sean Daly, Michael P Geary, Mairead M Kennelly, Keelin O'Donoghue, Alyson Hunter, John J Morrison, Gerard Burke, Patrick Dicker, Elizabeth C Tully, Fergal D Malone, Fiona A Alderdice, Fionnuala M McAuliffe
OBJECTIVES: To examine associations between maternal pregnancy-specific stress and umbilical (UA PI) and middle cerebral artery pulsatility indices (MCA PI), cerebroplacental ratio, absent end diastolic flow (AEDF), birthweight, prematurity, neonatal intensive care unit admission and adverse obstetric outcomes in women with small for gestational age pregnancies. It was hypothesised that maternal pregnancy-specific stress would be associated with fetoplacental haemodynamics and neonatal outcomes...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28631308/association-between-inadequate-antenatal-care-utilisation-and-severe-perinatal-and-maternal-morbidity-an-analysis-in-the-precare-cohort
#11
M Linard, B Blondel, C Estellat, C Deneux-Tharaux, D Luton, J F Oury, T Schmitz, L Mandelbrot, E Azria
OBJECTIVE: Because the effectiveness of antenatal care in reducing pregnancy complications is still discussed despite widespread recommendations of its use, we sought to assess the association between utilisation of recommended antenatal care and severe maternal (SMM) and perinatal morbidity (SPM). DESIGN: Prospective cohort study. SETTING: Four maternity units around Paris in 2010-2012. SAMPLE: 9117 women with singleton pregnancies...
June 20, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28626857/fetal-intracranial-hemorrhage-role-of-fetal-mri
#12
Laura Sanapo, Matthew T Whitehead, Dorothy I Bulas, Homa K Ahmadzia, Lindsay Pesacreta, Taeun Chang, Adre du Plessis
OBJECTIVE: To date, prenatal diagnosis of intracranial hemorrhage (ICH) is mainly based on ultrasound (US) findings rather than magnetic resonance imaging (MRI). We aimed to: investigate the role of MRI in the diagnosis of fetal ICH among pregnancies referred to fetal MRI and to characterize the topography of fetal ICH using MRI. METHODS: We retrospectively identified fetal ICH cases diagnosed by MRI from 2008-2015, and reviewed their prenatal and postnatal medical records...
June 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28623846/sonocad-a-software-to-solve-the-dilemma-of-the-prenatal-diagnosis-of-fetal-syndromes
#13
Mahmoud Abdelnaby, Abdulmeneam Fawzi, Manal Swelem, Hisham Elgammal, Hamdy Elgammal
OBJECTIVE: The aim of this work is to develop an efficient, user friendly, time saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. MATERIALS AND METHOD: SonoCAD (Sonographyic Computer Assisted Diagnosis) program was developed in 4 phases. Phase I, data gathering phase. Phase II the software development phase in which the source code of the software was developed. Phase III, system testing phase, was divided into 2 steps...
June 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#14
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28619624/fetal-stem-cell-and-gene-therapy
#15
REVIEW
Russell Witt, Tippi C MacKenzie, William H Peranteau
Advances in our understanding of stem cells, gene editing, prenatal imaging and fetal interventions have opened up new opportunities for the treatment of congenital diseases either through in-utero stem cell transplantation or in-utero gene therapy. Improvements in ultrasound-guided access to the fetal vasculature have also enhanced the safety and efficacy of cell delivery. The fetal environment offers accessible stem cell niches, localized cell populations with large proliferative potential, and an immune system that is able to acquire donor-specific tolerance...
June 12, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28618098/pre-labor-fetal-cardiac-function-and-its-relationship-with-intrapartum-fetal-compromise-and-neonatal-status-at-term
#16
Amal A Alsolai, Larissa N Bligh, Ristan M Greer, Sailesh Kumar
OBJECTIVES: To prospectively investigate the relationship between fetal cardiac function and Doppler parameters with intrapartum fetal compromise (IFC) in term appropriately grown fetuses prior to labour. Secondary outcomes were to correlate prenatal cardiac function with neonatal acid base status, intrapartum fetal heart rate abnormalities adverse neonatal outcomes. METHODS: This was a blinded, prospective, observational, cohort study, at the Mater Mother's Hospital, Brisbane, Australia...
June 15, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#17
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#18
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28615305/prenatal-markers-and-longitudinal-follow-up-in-simple-and-complex-gastroschisis
#19
Annelieke Hijkoop, Hanneke IJsselstijn, René M H Wijnen, Dick Tibboel, Joost van Rosmalen, Titia E Cohen-Overbeek
OBJECTIVE: We aimed to identify gestational-age corrected prenatal ultrasound markers of complex gastroschisis, and to compare physical growth and neurodevelopment between children with simple and complex gastroschisis. DESIGN: We included prenatally diagnosed gastroschisis patients from 2000 to 2012 who joined our longitudinal follow-up programme. Associations between complex gastroschisis and prenatal ultrasound markers collected at 30 weeks' gestation and prior to delivery were tested using logistic regression...
June 14, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28614975/prenatal-diagnosis-of-fetal-right-and-left-congenital-ventricular-aneurysms
#20
Mamatha Gowda, Shree Bharathi, Monica Thiagarajan, Tripti Aneja
Congenital ventricular aneurysm is a rare cardiac malformation characterized by protrusion or out-pouching of a portion of the ventricular wall. The aneurysm usually has a broad based communication with the ventricular cavity and has to be differentiated from a diverticulum. Herein described are two such cases of left and right ventricular aneurysm each, diagnosed on prenatal ultrasound at 38 and 36 weeks of gestation respectively.
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
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