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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/28938413/prenatal-diagnosis-of-resistance-to-thyroid-hormone-and-its-clinical-implications
#1
Theodora Pappa, João Anselmo, Sunnee Mamanasiri, Alexandra M Dumitrescu, Roy E Weiss, Samuel Refetoff
Context: Resistance to thyroid hormone beta (RTHβ) is an autosomal dominant disorder characterized by reduced sensitivity of target tissues to thyroid hormones (TH). Individuals with RTHβ have high TH levels usually due to mutations in the TH receptor beta (THRB) gene. The management of RTHβ during pregnancy is challenging as wild-type (WT) fetuses born to RTHβ mothers have low birth weight and suppressed postnatal TSH, due to intrauterine exposure to excess TH. Objective: To determine birth weight and postnatal TSH of WT fetuses carried by mothers with RTHβ whose fT4 levels were maintained below 20% the upper limit of normal (ULN)...
August 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28924289/knowledge-attitude-and-practices-kap-of-the-families-of-b-thalassaemia-children-in-thalassaemia-centers-of-rawalpindi-and-islamabad-pakistan
#2
Aamir Shahzad, Nazia Rafiq, Ikram Ullah, Muhammad Javaid Asad, Muhammad Sheeraz Ahmad, Usman Waheed
The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28905883/acceptable-applications-of-preimplantation-genetic-diagnosis-pgd-among-israeli-pgd-users
#3
Shachar Zuckerman, David A Zeevi, Sigal Gooldin, Gheona Altarescu
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28903905/the-pathogenicity-of-genomic-genetic-variant-of-x-chromosomal-genes-in-males-with-intellectual-disability
#4
Ji-Ping Peng, Fang Liu, Hua Xie, Xiao-Li Chen
Intellectual Disability (ID, previously named mental retardation) is a group of common pediatric neurology disorders characterized by extensive genetic and phenotypic heterogeneity. About 25%-50% of ID was caused by genomic/genetic variants, in which genomic/genetic variants of X-chromosome are one of key pathogenic causation (25%-30%), resulting in X-linked ID (XLID). The epidemiological data showed that the male to female ratio is 1.3: 1 in ID patients. The prevalence of XLID in the whole ID population is 10%-15%, and this prevalence reaches 20%-25% in the male ID population...
June 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28903583/prenatal-genetic-diagnosis-of-neu-laxova-syndrome
#5
Amber M Wood, Amy T Mottola, Eleanor H Rhee, Jeffrey A Kuller
No abstract text is available yet for this article.
September 14, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28901406/fgfr2-mutations-and-associated-clinical-observations-in-two-chinese-patients-with-crouzon-syndrome
#6
Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Yi Zhu, Chuan Chen, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Yonghao Li, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901398/application-of-next%C3%A2-generation-sequencing-for-molecular-diagnosis-in-a-large-family-with-osteogenesis-imperfecta-type-i
#7
Mengxia Ni, Hao Ding, Shuaimei Liu, Peiran Zhu, Qiuyue Wu, Weiwei Li, Jing Zhang, Weijun Jiang, Xinyi Xia
Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#8
Rabab E El Hawary, Safa S Meshaal, Dalia S Abd Elaziz, Marwa A Elsharkawy, Radwa S Alkady, Sohilla Lotfy, Ahmad El-Sheikhah, Amr Hassan, Nermeen M Galal, Jeannette A Boutros, Aisha M Elmarsafy
BACKGROUND: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28883988/the-current-state-of-genetic-counseling-and-newborn-screening-an-interview-with-megan-tucker
#9
Megan Tucker
Megan Tucker talks to Francesca Lake, Managing Editor: A certified genetic counselor for over 10 years, Megan is currently the director of the Indiana State University Genetic Counseling Graduate Program and the Genetic Counseling Clinic at Union Hospital (Terre Haute, IN, USA). She began her career split between the Center for Prenatal Diagnosis and the Medical Genetics and Neurodevelopmental Center at St Vincent Hospital (Indianapolis, IN, USA). During this time she was instrumental in both the development of the statewide Perinatal Loss Evaluation Program and a hospital protocol to ensure collection of cord blood to allow time to effectively genetically evaluate babies...
August 2017: Future Science OA
https://www.readbyqxmd.com/read/28882078/detection-of-fetal-duplication-16p11-2q12-1-by-next-generation-sequencing-of-maternal-plasma-and-invasive-diagnosis
#10
Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang, Min-Yue Dong
OBJECTIVE: The objective of study is to report the feasibility of non-invasive prenatal screening (NIPS) combined with invasive detection by chromosomal analysis in identifying fetal duplication, providing clinical performance of NIPS on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm the positive screening result. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA)...
September 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#11
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28874550/prenatal-neurogenesis-induction-therapy-normalizes-brain-structure-and-function-in-down-syndrome-mice
#12
Akiko Nakano-Kobayashi, Tomonari Awaya, Isao Kii, Yuto Sumida, Yukiko Okuno, Suguru Yoshida, Tomoe Sumida, Haruhisa Inoue, Takamitsu Hosoya, Masatoshi Hagiwara
Down syndrome (DS) caused by trisomy of chromosome 21 is the most common genetic cause of intellectual disability. Although the prenatal diagnosis of DS has become feasible, there are no therapies available for the rescue of DS-related neurocognitive impairment. A growth inducer newly identified in our screen of neural stem cells (NSCs) has potent inhibitory activity against dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) and was found to rescue proliferative deficits in Ts65Dn-derived neurospheres and human NSCs derived from individuals with DS...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28870427/-how-to-deal-with-a-fetal-head-circumference-lower-than-the-third-percentile
#13
P Mace, M Milh, N Girard, S Sigaudy, E Quarello
The prenatal finding of a head circumference (HC) below the 3rd percentile (p) remains, in the same way as short femur or increased nuchal translucency with normal karyotype, one the most difficult situations for the praticionner in the setting of prenatal diagnosis. Microcephaly is a gateway to possible cerebral pathologies, but the main objective is to identify serious prenatal situations. A standardized HC measurement, the use of adapted reference tools and charts, longitudinal following of cephalic biometrics in high-risk situations, and systematic central nervous system analysis can increase the diagnostic performance of ultrasound which is often disappointing for microcephaly...
September 1, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28869276/amniocentesis-and-chorionic-villus-sampling-for-prenatal-diagnosis
#14
REVIEW
Zarko Alfirevic, Kate Navaratnam, Faris Mujezinovic
BACKGROUND: During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood. A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Earlier alternatives are chorionic villus sampling (CVS) and early amniocentesis, which can be performed in the first trimester of pregnancy. OBJECTIVES: The objective of this review was to compare the safety and accuracy of all types of AC (i...
September 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28868251/maternal-and-fetal-tuberous-sclerosis-do-we-know-enough-as-an-obstetrician
#15
Nalini Sharma, Shriram Sharma, Jion Lalnunnem Thiek, Santa Singh Ahanthem, Arnab Kalita, Donboklang Lynser
BACKGROUND: Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome. CASE PRESENTATION: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks...
April 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/28862178/spectrum-of-prenatally-detected-central-nervous-system-malformations-neural-tube-defects-continue-to-be-the-leading-foetal-malformation
#16
Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R Phadke
BACKGROUND & OBJECTIVES: Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#17
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#18
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859766/no-348-joint-sogc-ccmg-guideline-update-on-prenatal-screening-for-fetal-aneuploidy-fetal-anomalies-and-adverse-pregnancy-outcomes
#19
Francois Audibert, Isabelle De Bie, Jo-Ann Johnson, Nanette Okun, R Douglas Wilson, Christine Armour, David Chitayat, Raymond Kim
OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#20
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
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