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Prenatal microarrays

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https://www.readbyqxmd.com/read/29771170/cgh-array-and-karyotype-as-complementary-tools-in-prenatal-diagnosis-prenatal-diagnosis-of-a-4q-derivative-chromosome-from-maternal-4q-11q-translocation
#1
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29752043/application-of-molecular-cytogenetic-techniques-to-characterize-the-aberrant-y-chromosome-arising-de-novo-in-a-male-fetus-with-mosaic-45-x-and-solve-the-discrepancy-between-karyotyping-chromosome-microarray-and-multiplex-ligation-dependent-probe-amplification
#2
Shin-Yu Lin, Chien-Nan Lee, Ai-Ying Peng, Ti-Jia Yuan, Dong-Jay Lee, Wen-Hsiang Lin, Gwo-Chin Ma, Ming Chen
We present a rare male fetus with karyotype of mosaic 45,X that comprises two types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are expected to result in oligospermia but unaffected male external genitalia. Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting results. Additional molecular cytogenetics tools including fluorescence in situ hybridization (FISH) and multicolor banding (mBAND) were performed, which help resolving the discrepancy and delineated the composition of the aberrant Y chromosomes...
May 8, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#3
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
#4
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/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#5
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/29705191/society-for-maternal-fetal-medicine-smfm-consult-series-45-mild-fetal-ventriculomegaly-diagnosis-evaluation-and-management
#6
Nathan S Fox, Ana Monteagudo, Jeffrey A Kuller, Sabrina Craigo, Mary E Norton
Ventriculomegaly is defined as dilation of the fetal cerebral ventricles and is a relatively common finding on prenatal ultrasound. The purpose of this document is to review the diagnosis, evaluation, and management of mild fetal ventriculomegaly. When enlargement of the lateral ventricles (≥10 mm) is identified, a thorough evaluation should be performed, including detailed sonographic evaluation of fetal anatomy, amniocentesis for karyotype and chromosomal microarray analysis (CMA), and a workup for fetal infection...
April 26, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29704544/prenatal-exposure-to-benzophenone-3-bp-3-induces-apoptosis-disrupts-estrogen-receptor-expression-and-alters-the-epigenetic-status-of-mouse-neurons
#7
Agnieszka Wnuk, Joanna Rzemieniec, Ewa Litwa, Władysław Lasoń, Małgorzata Kajta
Current evidence indicates that benzophenone-3 (BP-3) can pass through the placental and blood-brain barriers and thus can likely affect infant neurodevelopment. Despite widespread exposure, data showing the effects of BP-3 on the developing nervous system are scarce. This study revealed for the first time that prenatal exposure to BP-3 led to apoptosis and neurotoxicity, altered the levels of estrogen receptors (ERs) and changed the epigenetic status of mouse neurons. In the present study, multiple subcutaneous injections of pregnant mice with BP-3 at 50 mg/kg, which is an environmentally relevant dose, evoked activation of caspase-3 and lactate dehydrogenase (LDH) release as well as substantial loss of mitochondrial membrane potential in neocortical cells of their embryonic offspring...
April 25, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29675757/fetal-methotrexate-syndrome-and-antley-bixler-syndrome-should-not-be-confused
#8
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/29663692/profiles-of-gene-expression-in-the-hippocampal-formation-of-rats-with-experimentally-induced-brain-dysplasia
#9
Michal Kielbinski, Zuzanna Setkowicz, Kinga Gzielo, Krzysztof Janeczko
Malformations of cortical development (MCD) are a common cause of intractable seizures in humans. Among these, focal cortical dysplasia (FCD) poses an outstanding challenge. There are several subtypes of FCD that show significant variation in pathology and clinical presentation. All types exhibit disturbed cortical cytoarchitecture and increased propensity for seizures. The etiology is likely heterogenous, with mutations, specifically in genes related to mammalian target of rapamycin (mTOR), identified in only a subset of cases...
April 16, 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29652999/-application-of-single-nucleotide-polymorphism-microarray-and-fluorescence-in-situ-hybridization-analysis-for-the-prenatal-diagnosis-of-a-case-with-pallister-killian-syndrome
#10
Wenling Zhang, Zhichao Guo, Weiwei Wang, Yonghui Sun, Chenxi Zhang, Xiaofei Wang, Liwen Zhang, Chengbin Wang
OBJECTIVE: To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS). METHODS: Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes. RESULTS: G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29643044/-clinical-value-of-genome-wide-chromosome-microarray-technique-in-diagnosis-of-fetal-cerebral-ventriculomegaly
#11
Yi-Xian Peng, Yu-Wen Qiu, Qing-Xian Chang, Yan-Hong Yu, Mei Zhong, Kun-Rui Li
OBJECTIVE: To investigate the clinical value of gnome-wide chromosome microarray (CMA) technique in genetic etiological diagnosis of fetal cerebral ventriculomegaly. METHODS: A retrospective analysis was conducted in 109 women with singleton pregnancy, who were admitted in Nanfang Hospital with the diagnosis of cerebral ventriculomegaly in the fetuses by ultrasound between January, 2014 and December, 2016. Routine karyotype analysis and chromosome microarray analysis were performed to identify the chromosomal abnormalities in the fetuses...
March 20, 2018: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/29626710/prenatal-diagnosis-of-wolf-hirschhorn-syndrome-ultrasonography-and-molecular-karyotyping-results
#12
Li Zhen, Shu-Shu Fan, Lv-Yin Huang, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. STUDY DESIGN: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. RESULTS: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma...
March 31, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29609228/-prenatal-diagnosis-of-women-with-an-adverse-reproductive-history-using-both-traditional-karyotyping-and-snp-array
#13
H S Yu, H Guo, S S Shen, X C Li, L P Zhang, X F Fan
Objective: To explore the occurrence of fetal chromosomal abnormalities among pregnant women with an adverse reproductive history using traditional karyotyping and single nucleotide polymorphism microarray (SNP-array) technology. Methods: Totally 94 in 2 163 (4.35%) cases of singleton pregnant women with an adverse reproductive history were performed amniocentesis in Jinhua Maternal and Child Health Care Hospital from June 2015 to June 2017. Traditional karyotyping and SNP-array were employed simultaneously for prenatal diagnosis, and the detection rates of the two methods were compared...
March 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29595812/rapid-prenatal-diagnosis-using-targeted-exome-sequencing-a-cohort-study-to-assess-feasibility-and-potential-impact-on-prenatal-counseling-and-pregnancy-management
#14
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29575086/application-of-noninvasive-prenatal-testing-in-pregnancies-with-fetal-double-bubble-sign-is-it-feasible
#15
Lv-Yin Huang, Li Zhen, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. METHODS: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies...
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29573438/clinical-application-of-chromosomal-microarray-analysis-for-the-prenatal-diagnosis-of-chromosomal-abnormalities-and-copy-number-variations-in-fetuses-with-congenital-heart-disease
#16
Yu Xia, Yongchao Yang, Shufang Huang, Yueheng Wu, Ping Li, Jian Zhuang
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs and 83 were complex CHDs. CMA was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by qPCR. RESULTS: CMA identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21...
March 24, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29560757/chromosomal-microarray-analysis-detects-trisomy-9-mosaicism-in-a-prenatal-case-not-revealed-by-conventional-cytogenetic-analysis-of-cord-blood
#17
Hai-Shen Tang, De-Gang Wang, Lv-Yin Huang, Dong-Zhi Li
No abstract text is available yet for this article.
March 21, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29522884/microarray-analysis-in-pregnancies-with-isolated-echogenic-bowel
#18
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
April 2018: Early Human Development
https://www.readbyqxmd.com/read/29516345/informed-decision-making-in-the-context-of-prenatal-chromosomal-microarray
#19
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29514395/intrauterine-phenotypic-features-associated-with-16p11-2-recurrent-microdeletions
#20
Shaobin Lin, Shanshan Shi, Yi Zhou, Yuanjun Ji, Peizhi Huang, Jianzhu Wu, Baojiang Chen, Yanmin Luo
OBJECTIVE: To investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion. METHODS: This study reviewed 2262 consecutive fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis between October 2014 and December 2016. Cases carrying the 16p11.2 recurrent microdeletion were further genetically analyzed, and their clinical features were reviewed...
March 7, 2018: Prenatal Diagnosis
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