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Prenatal genetic testing

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https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#1
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#2
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#3
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#4
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#5
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29737065/-clinical-application-assessment-of-karyolite-bobs-combined-with-qf-pcr-in-the-detection-of-products-of-conception
#6
Hang Su, Hong-Mei Zhu, Ling-Ping Li, Ze Du, Yang Zeng, Ting Hu, Zhu Zhang, Shan-Ling Liu, He Wang
OBJECTIVE: To assess the accuracy and discuss the feasibility of KaryoLite bacterial artificial chromosome on beads (KL-BoBs) and quantitative fluorescent polymerase chain reaction (QF-PCR) in genetic testing of products of conception (POC) by comparing with the chromosomal microarray analysis (CMA) test results. METHODS: Eighty-one cases of abortion samples were collected in the prenatal diagnosis center of West China Second University Hospital in Sichuan University from May to August 2016,including 61 cases of placenta tissues,19 cases of fetal muscle tissues and 1 case of fetal liver tissue...
March 2018: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29733704/genetic-test-availability-and-spending-where-are-we-now-where-are-we-going
#7
Kathryn A Phillips, Patricia A Deverka, Gillian W Hooker, Michael P Douglas
Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome in 2003. However, it is not widely known how many tests there are, how they are used, and how they are paid for. Little evidence from large data sets about their use has emerged. We shed light on the issue of genetic testing by providing an overview of the testing landscape. We examined test availability and spending for the full spectrum of genetic tests, using unique data sources on test availability and commercial payer spending for privately insured populations, focusing particularly on tests measuring multiple genes in the period 2014-17...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29726320/preferences-for-prenatal-testing-among-pregnant-women-partners-and-health-professionals
#8
Ida Charlotte Bay Lund, Naja Becher, Olav Bjørn Petersen, Melissa Hill, Lyn Chitty, Ida Vogel
INTRODUCTION: Cell-free DNA testing (cfDNA testing) in maternal plasma has recently been implemented in Danish healthcare. Prior to that we wanted to evaluate the preferences among pregnant women, partners and health professionals regarding cfDNA testing compared with invasive prenatal diagnostics. METHODS: Responders were recruited at public hospitals in the Central and North Denmark Regions. Stated preferences for prenatal testing were obtained through an online questionnaire incorporating a discrete choice experiment...
May 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29726057/mutations-and-common-variants-in-the-human-arginase-1-arg1-gene-impact-on-patients-diagnostic-and-protein-structure-considerations
#9
Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, Ralph Fingerhut, Johannes Häberle
The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment and persistent growth retardation. Interestingly, in contrast to other urea cycle disorders, hyperammonemia is rare. We report here 66 mutations (12 of which are novel), including 30 missense mutations, 7 nonsense, 10 splicing, 15 deletions, two duplications, one small insertion and one translation initiation codon mutation...
May 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29720104/prenatal-diagnosis-in-a-hereditary-peutz-jeghers-syndrome-family-with-high-cancer-risk
#10
Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis is important for patients' psychological status, as well as for clinical management, genetic counseling and possible prenatal family planning...
May 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29714113/noninvasive-prenatal-testing-a-survey-of-young-future-parents-in-flanders
#11
Pascal Borry, Maddalena Favaretto, Ann Batthyany, Eline Boey, Sophie Van Tongerloo, Marc Dooms, Isabelle Huys
AIM: To explore the opinions of young (future) parents toward noninvasive prenatal testing. MATERIALS & METHODS: A questionnaire was administrated. RESULTS:  A total of 1006 surveys were completed by visitors of 40 secondhand clothing fairs spread equally over Flanders (Belgium). The respondents expressed an overall positive opinion toward the use and implementation of a noninvasive prenatal test (NIPT). Most respondents claimed that they would test their unborn child for genetic disorders, even if this was to result in a termination of the pregnancy...
January 2018: Personalized Medicine
https://www.readbyqxmd.com/read/29712489/sensitivity-of-prenatal-ultrasound-for-detection-of-trisomy-18
#12
David A Becker, Ying Tang, Adam P Jacobs, Joseph R Biggio, Rodney K Edwards, Akila Subramaniam
OBJECTIVES: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA. MATERIALS AND METHODS: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004-October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal-fetal medicine specialist performed at our institution...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#13
Barbara Scelsa, Mariangela Rustico, Andrea Righini, Cecilia Parazzini, Marina Antonella Balestriero, Paola Introvini, Luigina Spaccini, Massimo Mastrangelo, Gianluca Lista, Gian Vincenzo Zuccotti, Pierangelo Veggiotti
OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29695406/a-novel-association-of-campomelic-dysplasia-with-hydrocephalus-due-to-an-unbalanced-chromosomal-translocation-upstream-of-sox9
#14
Prince Antwi, Christopher S Hong, Daniel Duran, Jin Sheng Chih, Weilai Dong, Michael DiLuna, Kristopher T Kahle
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre-Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long arm of chromosome 17 harboring the SOX9 locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the CNS. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21...
April 25, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#15
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29675757/fetal-methotrexate-syndrome-and-antley-bixler-syndrome-should-not-be-confused
#16
REVIEW
C Richards, Christine M Hall, D Johnson, Amaka C Offiah
Exposure to methotrexate in utero can result in fetal methotrexate syndrome - a condition characterised by prenatal-onset growth retardation, craniosynostosis, dysmorphic facies and multiple limb abnormalities. A literature review was prompted by the findings in a girl who is presented here with full consent from her guardian. She is the third child of unrelated parents and was 4 years old at the time of this report. Her mother took 15 mg methotrexate on two occasions during early pregnancy for juvenile idiopathic arthritis, unaware that she was pregnant...
April 19, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29664026/prenatal-screening-for-genetic-disorders-suggested-guidelines-for-the-indian-scenario
#17
REVIEW
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29661182/women-s-perspectives-on-the-ethical-implications-of-non-invasive-prenatal-testing-a-qualitative-analysis-to-inform-health-policy-decisions
#18
Meredith Vanstone, Alexandra Cernat, Jeff Nisker, Lisa Schwartz
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values...
April 16, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29655594/no-effect-of-prenatal-vitamin-d-deficiency-on-autism-relevant-behaviours-in-multiple-inbred-strains-of-mice
#19
M Langguth, M Fassin, S Alexander, K M Turner, T H J Burne
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders commonly characterised by verbal and non-verbal communication deficits, impaired social interaction and repetitive, stereotypic behaviours. The aetiology of ASD is most likely a combination of genetic and environmental factors. Epidemiological evidence suggests that prenatal vitamin D deficiency is associated with an increased incidence of ASD. The overall aim of this study was to investigate prenatal vitamin D deficiency on ASD-related behavioural phenotypes in multiple inbred strains of mice...
April 12, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29652985/-mutation-analysis-and-prenatal-diagnosis-for-50-pedigrees-affected-with-duchenne-becker-muscular-dystrophy
#20
Huanzheng Li, Chenyang Xu, Yijian Mao, Jinfang Lu, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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