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Prenatal disability

Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Jun Udagawa, Kodai Hino
Epidemiological studies suggest that exposure to prenatal stressors, including malnutrition, maternal immune activation (MIA), and adverse life events, is associated with increased risks of schizophrenia, autism spectrum disorder (ASD), and attention-deficit hyperactivity disorder (ADHD). However, the underlying pathophysiological mechanisms are unclear. The first trimester of pregnancy is particularly a vulnerable period. During this period, the self-renewal of neural stem cells and neurogenesis vigorously occur, and synaptic connections are partially formed in the telencephalon...
2016: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Zoe H Larsen, Praveen Chander, Jason A Joyner, Crina M Floruta, Tess L Demeter, Jason P Weick
BACKGROUND: Prenatal alcohol exposure (PAE) in animal models results in excitatory-inhibitory (E/I) imbalance in neocortex due to alterations in the GABAergic interneuron (IN) differentiation and migration. Thus, E/I imbalance is a potential cause for intellectual disability in individuals with fetal alcohol spectrum disorder (FASD), but whether ethanol (EtOH) changes glutamatergic and GABAergic IN specification during human development remains unknown. Here, we created a human cellular model of PAE/FASD and tested the hypothesis that EtOH exposure during differentiation of human pluripotent stem cell-derived neurons (hPSNs) would cause the aberrant production of glutamatergic and GABAergic neurons, resulting in E/I imbalance...
September 26, 2016: Alcoholism, Clinical and Experimental Research
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Penha Cristina Barradas, Tiago Savignon, Alex C Manhães, Frank Tenório, Alan P da Costa, Marta C Cunha-Rodrigues, Juliana Vaillant
Hypoxic-ischemic (HI) injury is an important cause of death and disabilities. Despite all improvements in neonatal care, the number of children who suffer some kind of injury during birth has remained stable in the last decade. A great number of studies have shown alterations in neural cells and many animal models have been proposed in the last 5 decades. Robinson et al. (2005) proposed an HI model in which the uterine arteries are temporarily clamped on the 18th gestation day. The findings were quite similar to the ones observed in postmortem studies...
2016: Advances in Experimental Medicine and Biology
Annie T G Chiu, Lixing Zhu, Gary T K Mok, Gordon K C Leung, C B Chow, Brian H Y Chung
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing...
October 2, 2016: European Journal of Medical Genetics
Cecilia Magnusson, Michael Lundberg, Brian K Lee, Dheeraj Rai, Håkan Karlsson, Renee Gardner, Kyriaki Kosidou, Stefan Arver, Christina Dalman
BACKGROUND: Maternal vitamin D deficiency may increase risk of autism spectrum disorder (ASD), but direct evidence is lacking. AIMS: To clarify the relationship between maternal vitamin D deficiency and offspring risk of ASD with and without intellectual disability. METHOD: Using a register-based total population study (N=509 639), we calculated adjusted odds ratios (aORs) and 95% confidence intervals (CIs) of ASD with and without intellectual disability in relation to lifetime diagnoses of maternal vitamin D deficiency...
March 2016: BJPsych Open
M Phan, F Conte, K D Khandelwal, C W Ockeloen, T Bartzela, T Kleefstra, H van Bokhoven, M Rubini, H Zhou, C E L Carels
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia...
December 2016: Human Genetics
Christie L M Petrenko, Mary E Pandolfino, Rachael Roddenbery
BACKGROUND AND AIMS: Limited research has focused on parenting practices used by caregivers raising children with fetal alcohol spectrum disorders (FASD). The current study hypothesized that parental attributions of children's misbehavior would relate to the parenting strategies caregivers utilize with children with FASD. This study also aimed to develop a coding scheme to allow quantification of these treatment-relevant constructs in future intervention trials. METHODS: Thirty-one caregivers of children with FASD (age 4-8) were interviewed with the Parenting Practices Interview (PPI), a study-developed qualitative interview...
September 20, 2016: Research in Developmental Disabilities
Kristen Wigby, Cheryl D'Epagnier, Susan Howell, Amy Reicks, Rebecca Wilson, Lisa Cordeiro, Nicole Tartaglia
Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing...
November 2016: American Journal of Medical Genetics. Part A
B G Fisher, A Thankamony, I A Hughes, K K Ong, D B Dunger, C L Acerini
STUDY QUESTION: What is the relationship between maternal paracetamol intake during the masculinisation programming window (MPW, 8-14 weeks of gestation) and male infant anogenital distance (AGD), a biomarker for androgen action during the MPW? SUMMARY ANSWER: Intrauterine paracetamol exposure during 8-14 weeks of gestation is associated with shorter AGD from birth to 24 months of age. WHAT IS ALREADY KNOWN: The increasing prevalence of male reproductive disorders may reflect environmental influences on foetal testicular development during the MPW...
September 8, 2016: Human Reproduction
Simone M Karam, Aluísio J D Barros, Alícia Matijasevich, Iná S Dos Santos, Luciana Anselmi, Fernando Barros, Sandra Leistner-Segal, Têmis M Félix, Mariluce Riegel, Sharbel W Maluf, Roberto Giugliani, Maureen M Black
BACKGROUND: Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. AIMS: To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). METHODS: In 2004, maternity hospitals were visited daily and births were identified...
2016: Public Health Genomics
Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen, Yiping Shen
BACKGROUND: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION: Here we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty...
2016: Molecular Cytogenetics
Sasha E Andrews, Ann G Downey, David Scott Showalter, Heather Fitzgerald, Vivian P Showalter, John C Carey, Peter Hulac
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during the prenatal, perinatal, and postnatal periods...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Filip Rybakowski, Izabela Chojnicka, Piotr Dziechciarz, Andrea Horvath, Małgorzata Janas-Kozik, Anetta Jeziorek, Ewa Pisula, Anna Piwowarczyk, Agnieszka Słopień, Joanna Sykut-Cegielska, Hanna Szajewska, Krzysztof Szczałuba, Krystyna Szymańska, Anna Waligórska, Aneta Wojciechowska, Michał Wroniszewski, Anna Dunajska
Autism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite common features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prenatal, perinatal and neonatal period. The role of rare variants with large effect i...
2016: Psychiatria Polska
Kristen Lyall, Lisa A Croen, Andreas Sjödin, Cathleen K Yoshida, Ousseny Zerbo, Martin Kharrazi, Gayle C Windham
BACKGROUND: Polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs) are neurodevelopmental toxicants, but few studies have examined associations with autism spectrum disorder (ASD). OBJECTIVES: To determine whether prenatal exposure to PCBs and OCPs influences offspring risk of ASD and intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study among Southern California births, including children with ASD (N=545) meeting Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR criteria, ID (N=181), and general population (GP) controls (N=418)...
August 23, 2016: Environmental Health Perspectives
Imran S Haque, Gabriel A Lazarin, H Peter Kang, Eric A Evans, James D Goldberg, Ronald J Wapner
IMPORTANCE: Screening for carrier status of a limited number of single-gene conditions is the current standard of prenatal care. Methods have become available allowing rapid expanded carrier screening for a substantial number of conditions. OBJECTIVES: To quantify the modeled risk of recessive conditions identifiable by an expanded carrier screening panel in individuals of diverse racial and ethnic backgrounds and to compare the results with those from current screening recommendations...
August 16, 2016: JAMA: the Journal of the American Medical Association
D Paladini, B Deloison, A Rossi, G E Chalouhi, C Gandolfo, P Sonigo, S Buratti, A E Millischer, G Tuo, Y Ville, A Pistorio, A Cama, L J Salomon
OBJECTIVE: Vein of Galen aneurysmal malformation (VGAM) is a rare anomaly in which an adequate perinatal management may warrant good neurological outcome. However, most fetal series are too scant to allow reliable statistical assessment of poor prognostic factors. Aim of this paper is to assess, in a two-center series of 49 cases, the prognostic value of several prenatal variables. The primary endpoint of the analysis is to identify possible prenatal indicators of poor outcome, in terms of mortality and cerebral disabilities...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
M Sandeva, E Uchikova
Premature birth (PB) remains an unresolved problem, despite progress in prenatal medicine and the introduction of new methods and techniques of prolonged respiratory resuscitation in recent decades. Premature birth is the cause of 70% of neonatal mortality and 50% of long-term neurological complications in newborns, many of whom debilitating. Notwithstanding the significant progress prenatal care in the last twenty years in developed countries is a trend towards a gradual and continuous increase in premature births...
2016: Akusherstvo i Ginekologii︠a︡
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