Read by QxMD icon Read

fetal malformation

Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
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
Eyal Sheiner, Tamar Wainstock, Daniella Landau, Asnat Walfisch
OBJECTIVE: To evaluate the association between sex and long-term pediatric cardiovascular morbidity. STUDY DESIGN: A population-based cohort study was performed that compared the risk of long-term cardiovascular morbidity (up to the age of 18 years) of children according to sex. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center. Multiple pregnancies and fetal congenital malformations were excluded. Kaplan-Meier survival curves were constructed to compare cumulative cardiovascular morbidity incidence...
October 13, 2016: Journal of Pediatrics
Lucilla Poston, Rishi Caleyachetty, Sven Cnattingius, Camila Corvalán, Ricardo Uauy, Sharron Herring, Matthew W Gillman
Obesity in women of reproductive age is increasing in prevelance worldwide. Obesity reduces fertility and increases time taken to conceive, and obesity-related comorbidities (such as type 2 diabetes and chronic hypertension) heighten the risk of adverse outcomes for mother and child if the woman becomes pregnant. Pregnant women who are obese are more likely to have early pregnancy loss, and have increased risk of congenital fetal malformations, delivery of large for gestational age infants, shoulder dystocia, spontaneous and medically indicated premature birth, and stillbirth...
October 10, 2016: Lancet Diabetes & Endocrinology
Chandni Prakash, Susan Hatters-Friedman, Charmian Moller-Olsen, Abigail North
INTRODUCTION: Pregnancy is a vulnerable period for recurrence of bipolar disorder. Discontinuation of mood stabilisers during pregnancy and the postpartum period can significantly increase the risk of recurrence of bipolar disorder. Lamotrigine is an anti-epileptic drug that has been approved for the maintenance treatment of bipolar disorder. Epilepsy literature has indicated that lamotrigine has a reassuring safety profile in pregnancy but there is little information on its effectiveness and safety in pregnant women with mental disorders...
August 15, 2016: Psychopharmacology Bulletin
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
Jessica Eleanor Stokes, Matthew Baylis, Jennifer Sarah Duncan
In 2011-2012, northern European livestock faced a threat from a newly emerged virus, Schmallenberg virus (SBV), only a few years after a major outbreak of bluetongue serotype 8 (BTV-8). Like BTV-8, SBV is transmitted by Culicoides biting midges to ruminants and spread throughout Europe. SBV, however, spread faster, reaching the UK within three months of initial discovery. Adult ruminants show only mild, if any, clinical signs; however, infection of naive ruminants by SBV during the vulnerable period of gestation leads to abortions, stillbirths and fetal malformations...
October 11, 2016: Veterinary Record
Blanka Vasak, Jessica J Verhagen, Steven V Koenen, Maria P H Koster, P A O M de Reu, Arie Franx, Jan G Nijhuis, Gouke J Bonsel, Gerard H A Visser
BACKGROUND: Twin pregnancies are at increased risk for perinatal morbidity and mortality, due to many factors including a high incidence of preterm delivery. Compared to singleton pregnancies overall perinatal mortality risk is higher in twin pregnancies, however for the preterm period perinatal mortality has been reported to be lower in twins. OBJECTIVE: To compare perinatal mortality in relation to gestational age at birth between singleton and twin pregnancies, taken into account socioeconomic status, fetal sex and parity...
October 8, 2016: American Journal of Obstetrics and Gynecology
Mark Lubinsky
An association between congenital malformations and fetal growth restriction (FGR) can be largely explained by a relationship with early embryonic hypocellularity. The malformations include the VACTERL association, which is exceptional as a Mendelian syndrome, but is commonly associated with monozygotic twinning, maternal diabetes, and some forms of aneuploidy, all characterized by a small embryo early in development. Parsimony suggests that these different links to VACTERL are related to the hypocellularity as a single common factor, rather than as an expression of three independent pathogenetic processes...
September 22, 2016: American Journal of Medical Genetics. Part A
Catharina Rydberg, Katarina Tunón
INTRODUCTION: This study assessed the sensitivity of routine ultrasound examination for the detection of abnormal chromosomes and structural malformations in fetuses in the second trimester in a non-selected population. MATERIAL AND METHODS: Prenatal diagnoses of fetal abnormalities in 10 414 fetuses and newborns were reviewed and compared with all postnatal diagnoses of congenital abnormalities between 2006 and 2013. RESULTS: Overall, 243 fetuses and newborns had confirmed congenital abnormalities, with a prevalence of 2...
October 7, 2016: Acta Obstetricia et Gynecologica Scandinavica
Qingmei Nie, Baohua Su, Jianping Wei
Epilepsy is one of the few neurologic disorders that requires a constant treatment during pregnancy. Epilepsy affects 0.3-0.8% of pregnant women. Prescription of antiepileptic drugs (AEDs) to pregnant women with epilepsy requires monitoring and maintaining a balance between limiting seizures and decreasing fetal exposure to the potential teratogenic effects. AEDs are also commonly used for psychiatric disorders, pain disorders, and migraines. The types of malformations that can result in fetuses exposed to AEDs include minor anomalies, major congenital malformations, intrauterine growth retardation, cognitive dysfunction, low IQ, microcephaly, and infant mortality...
October 2016: Experimental and Therapeutic Medicine
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
Carlo Ticconi, Adalgisa Pietropolli, Giovanni Rezza
Recent data strongly suggest an association between the current outbreak of ZIKA virus (ZIKV) in many countries of Central and South America and a sharp increase in the detection of microcephaly and fetal malformations. The link with brain defect, which has been detected mainly in some areas of Brazil, is supported by the following evidence: (1) ZIKV transmission from infected pregnant women to their fetuses; (2) the potential of ZIKV to determine a specific congenital fetal syndrome characterized by abnormalities involving primarily the developing brain and eye...
September 30, 2016: Pathogens and Global Health
Li-Xia Zhou, Su-Zhen Dong, Ming-Feng Zhang
PURPOSE: To present three fetal vein of Galen aneurysmal malformations (VGAMs), which were diagnosed through magnetic resonance imaging (MRI), and highlight these cardiovascular findings. MATERIALS AND METHODS: We retrospectively reviewed three fetuses with VGAM at 31, 32, and 33 weeks of gestation. Feeding arteries and draining veins were observed by MRI. Secondary changes in the brain and high-output heart failure caused by high blood flow in the lesion were evaluated...
September 30, 2016: Journal of Magnetic Resonance Imaging: JMRI
Aqueel H Pabaney, Richard A Rammo, Rizwan A Tahir, Donald Seyfried
BACKGROUND: Arteriovenous Malformations (AVMs) are hypothesized to be static, congenital lesions developing as early as 4 weeks of fetal life. New literature has shown that AVMs may represent dynamic and reactive vascular lesions arising from cerebral infarction, inflammation, or trauma. A literature search reveals 17 previously reported cases of new AVM formation after previous negative imaging studies. This reactive development or "second hit" theory suggests that at a molecular level, growth factors may play a vital role in aberrant angiogenesis and maturation of an arterio-venous fistula into an AVM...
September 23, 2016: World Neurosurgery
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Shiwen Liu, Chao Li, Yiyan Wang, Tingting Hong, Tiantian Song, Linxi Li, Leping Ye, Qingquan Lian, Ren-Shan Ge
The objective of the present study is to determine whether in utero exposure to methoxychlor (MXC) affects rat fetal Leydig cell number, cell size, or functions. Pregnant Sprague Dawley dams were gavaged with corn oil (control, 0mg/kg/day MXC) or MXC at doses of 10, 50, or 100mg/kg/day from gestational day (GD) 12 to 21. The results show that MXC increased fetal Leydig cell numbers dose-dependently from 95±8×10(3) cells/testis (control, mean±SEM) to 101±6, 148±22, and 168±21×10(3) cells/testis, at the doses of 10, 50, and 100mg/kg, respectively...
September 20, 2016: Toxicology
Hadi Wiputra, Chang Quan Lai, Guat Ling Lim, Joel Jia Wei Heng, Lan Guo, Hwa Liang Leo, Sanah Merchant Soomar, Arijit Biswas, Citra Nurfarah Zaini Mattar, Choon Hwai Yap
0.6-1.9% of US children were born with congenital heart malformations. Clinical and animal studies suggests that abnormal blood flow forces might play a role in causing these malformation, highlighting the importance of understanding the fetal cardiovascular fluid mechanics. We performed Computational Fluid Dynamics simulations of the right ventricles, based on 4D ultrasound scans of three 20 weeks old normal human foetuses, to characterize their flow and energy dynamics. Peak intraventricular pressure gradients were found to be 0...
September 23, 2016: American Journal of Physiology. Heart and Circulatory Physiology
Toshiaki Takahashi, Florian Friedmacher, Julia Zimmer, Prem Puri
PURPOSE: Congenital diaphragmatic hernia (CDH) is presumed to originate from defects in the primordial diaphragmatic mesenchyme, mainly comprising of muscle connective tissue (MCT). Thus, normal diaphragmatic morphogenesis depends on the structural integrity of the underlying MCT. Developmental mutations that inhibit normal formation of diaphragmatic MCT have been shown to result in CDH. Desmin (DES) is a major filament protein in the MCT, which is essential for the tensile strength of the developing diaphragm muscle...
September 20, 2016: Pediatric Surgery International
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"