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Prenatal genetic diagnosis

Beth M Kline-Fath, Arnold C Merrow, Maria A Calvo-Garcia, Usha D Nagaraj, Howard M Saal
Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex...
March 14, 2018: Pediatric Radiology
Yan Hao, Dawei Chen, Zhiguo Zhang, Ping Zhou, Yunxia Cao, Zhaolian Wei, Xiaofeng Xu, Beili Chen, Weiwei Zou, Mingrong Lv, Dongmei Ji, Xiaojin He
Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...
April 2018: Oncology Letters
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
Teresa Victoria, Xiaowei Zhu, Ralph Lachman, Monica Epelman, Edward R Oliver, N Scott Adzick, David M Biko
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure...
March 12, 2018: AJR. American Journal of Roentgenology
Rahul Mahajan, Shamsudheen Karuthedath Vellarikkal, Sanjeev Handa, Ankit Verma, Rijith Jayarajan, Anoop Kumar, Dipankar De, Jaswinder Kaur, Inusha Panigrahi, Vineeth VSl, Sridhar Sivasubbu, Vinod Scaria
Epidermolysis Bullosa (EB) encompasses a number of genetic conditions caused by mutations in genes involved in the formation of basement membrane resulting in blistering of the epidermis on trauma or pressure. At least 18 genes and 30 distinct subtypes of the disease are presently known[1]. Here-in, we report two un-related children with recessive dystrophic EB (RDEB) with novel compound heterozygous variations in collagen VII, one of whom had a fatal outcome and the other with a better sequel. This article is protected by copyright...
March 6, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
Dong-Xiao Li, Xi-Yuan Li, Hui Dong, Yu-Peng Liu, Yuan Ding, Jin-Qing Song, Ying Jin, Yao Zhang, Qiao Wang, Yan-Ling Yang
BACKGROUND: Classical homocystinuria (homocysteinemia type 1, MIM# 236200) is a rare inherited disorder in Mainland China. This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients. METHODS: Nine Chinese patients were diagnosed at the age of 5 years 4 months to 18 years by plasma total homocysteine and blood methionine determination. CBS gene analysis was performed for the patients and their families...
March 5, 2018: World Journal of Pediatrics: WJP
Aviad E Raz, Yael Amano, Stefan Timmermans
This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015-2017 with 34 Israeli parents whose child was screen positive...
March 5, 2018: Journal of Community Genetics
Ratna Dua Puri, Seema Kapoor, Priya S Kishnani, Ashwin Dalal, Neerja Gupta, Mamta Muranjan, Shubha R Phadke, Anupam Sachdeva, Ishwar C Verma, Pramod K Mistry
JUSTIFICATION: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD has paucity of information and optimal management guidelines for Indian patients. PROCESS: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics...
February 15, 2018: Indian Pediatrics
José Rocha, C Nunes, A Leonardo, M J Correia, M Fernandes, M C Paúl, V Almeida
We have defined a psychological intervention based on cognitive narrative therapy and the Ottawa decision framework to reduce adjustment problems following a termination of pregnancy (TOP) after a positive prenatal diagnosis (PND). The intervention is composed of four sessions: decision, subjectivation, metaphorization, and projecting. This study aims to assess the effectiveness of a cognitive narrative intervention to prevent depression and anxiety symptoms after TOP. The intervention was accepted by 24 participants...
March 3, 2018: Archives of Women's Mental Health
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos
BACKGROUND: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. METHODS: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context...
March 1, 2018: Journal of Medical Genetics
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Moshe Bronshtein, Zvi Leibovitz, Gaby Laham, Sandro Egenburg, Igal Wolman, Ron Bardin
We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia...
February 26, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Hongguo Zhang, Ruixue Wang, Linlin Li, Haibo Zhu, Hao Zhang, Ruizhi Liu
Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed...
February 23, 2018: Turkish Journal of Medical Sciences
Simi Gupta, Mackenzie Naert, Jennifer Lam-Rachlin, Ana Monteagudo, Andrei Rebarber, Daniel Saltzman, Nathan S Fox
OBJECTIVE: Early onset fetal growth restriction is associated with poor pregnancy outcomes, but frequently is due to fetal structural or chromosomal abnormalities. The objective of this study was to determine outcomes in patients with early onset fetal growth restriction without diagnosed fetal or genetic anomalies and to identify additional risk factors for poor outcomes in these patients. METHODS: This was retrospective cohort study of singleton pregnancies in women with early onset growth restriction defined as a sonographic estimated fetal weight < 10% diagnosed between 16-28 weeks' gestation...
February 25, 2018: Journal of Maternal-fetal & Neonatal Medicine
Dipty Jain, Dipika Mohanty
PURPOSE OF REVIEW: In the past, milder clinical manifestations of sickle cell disease (SCD) have been described from India. However, recent data from some parts of India suggest that the severity of the disease can be compared to that of African phenotypes. This review therefore describes the varied clinical manifestation of SCD, the success of newborn screening programme, prenatal diagnosis and low dose hydroxyurea therapy in India. RECENT FINDINGS: The varied clinical manifestations such as anemia, vaso-occlusive crisis, acute chest syndrome, renal involvement, stroke and so on vary from one part of the country to the other and also among different communities of India...
February 19, 2018: Current Opinion in Hematology
Giovanni Monni, Cristina Peddes, Ambra Iuculano, Rosa Maria Ibba
The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years...
February 20, 2018: Journal of Clinical Medicine
Chiu-Chi Wang, Chen-Yu Wang, Yu-Ju Lai, Tung-Yao Chang, Her-Young Su
No abstract text is available yet for this article.
February 2018: Taiwanese Journal of Obstetrics & Gynecology
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