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Prenatal microarrays

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https://www.readbyqxmd.com/read/29338128/clinical-experience-of-laboratory-follow-up-with-non-invasive-prenatal-testing-using-cell-free-dna-and-positive-microdeletion-results-in-349-cases
#1
S Schwartz, M Kohan, R Pasion, P R Papenhausen, L D Platt
OBJECTIVE: Screening via non-invasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. METHODS: Patients that were screen positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q, who underwent diagnostic studies by either CVS or amniocentesis were evaluated...
January 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#2
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#3
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29315677/acog-and-smfm-guidelines-for-prenatal-diagnosis-is-karyotyping-really-sufficient
#4
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker
OBJECTIVE: The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with one or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29306563/yield-rate-of-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-defects
#5
Sifa Turan, Mehmet Resit Asoglu, Rinat Gabbay Benziv, Lauren Doyle, Christopher Harman, Ozhan M Turan
OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified...
December 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29304545/prenatal-diagnosis-of-congenital-diaphragmatic-hernia-does-laterality-predict-perinatal-outcomes
#6
Jeffrey D Sperling, Teresa N Sparks, Victoria K Berger, Jody A Farrell, Kristen Gosnell, Roberta L Keller, Mary E Norton, Juan M Gonzalez
OBJECTIVE:  The objective of this study was to examine laterality as a predictor of outcomes among fetuses with prenatally diagnosed congenital diaphragmatic hernia (CDH). METHODS:  This is a retrospective cohort study of pregnancies with CDH evaluated at our center from 2008 to 2016 compared cases with right-sided CDH (RCDH) versus left-sided CDH (LCDH). The primary outcome was survival to discharge. Secondary outcomes included ultrasound predictors of poor prognosis (liver herniation, stomach herniation, lung area-to-head circumference ratio [LHR]), concurrent anomalies, hydrops, stillbirth, preterm birth, mode of delivery, small for gestational age, use of extracorporeal membrane oxygenation, and length of stay...
January 5, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29280190/paediatricians-expectations-and-perspectives-regarding-genetic-testing-for-children-with-developmental-disorders
#7
Isabelle Tremblay, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan, Annie Janvier
AIM: Investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology. RESULTS: Ninety-seven % (73/76) of surveys were completed. Pediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious...
December 27, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#8
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#9
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29232372/attenuated-expression-of-mtr-in-both-prenatally-androgenized-mice-and-women-with-the-hyperandrogenic-phenotype-of-pcos
#10
Lei Lei, Lijun Ding, Jing Su, Mengyuan Liu, Qingqing Shi, Jianjun Zhou, Haixiang Sun, Guijun Yan
Polycystic ovary syndrome (PCOS) is a common endocrine, metabolic and heterogeneous disorder in women of reproductive age, the exact etiology of which remains unknown. To unravel the molecular mechanisms underlying the hyperandrogenic phenotype of PCOS, prenatally androgenized (PNA) mice were used to mimic this phenotype in women with PCOS. Using microarray analysis, 1188 differentially expressed genes, including 671 upregulated and 517 downregulated genes, were identified in ovaries from PNA mice. Five differentially expressed genes (Aldh1a7, Bhmt, Mtr, Nrcam, Ptprg) were validated, and decreased MTR expression was shown in ovaries of PNA mice...
2017: PloS One
https://www.readbyqxmd.com/read/29216801/first-report-of-prenatal-ascertainment-of-a-fetus-with-homozygous-loss-of-the-sox10-gene-and-phenotypic-correlation-by-autopsy-examination
#11
David P LeBel, Daynna J Wolff, Nicholas I Batalis, Tara Ellingham, Natalie Matics, Sanjay C Patwardhan, Iya Y Znoyko, Cynthia A Schandl
The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29188621/-prenatal-diagnosis-of-a-fetus-with-miller-dieker-syndrome
#12
Liangpu Xu, Hailong Huang, Yan Wang, Gang An, Na Lin, Min Zhang, Xiaoqing Wu, Deqin He, Meihuan Chen, Yuan Lin
OBJECTIVE: To report on prenatal diagnosis of a fetus with Miller-Dieker syndrome (MDS) and explore its genotype - phenotype correlation. METHODS: Chromosome karyotyping, bacterial artificial chromosome on beads (BACs-on-Beads, BoBs), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism microarray (SNP array) were applied in conjunction for the prenatal diagnosis of a fetus with abnormal ultrasound findings. RESULTS: A 17p13...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29188616/-prenatal-diagnosis-of-a-tetrasomy-18p-case-using-bacs-on-beads-technology-and-single-nucleotide-polymorphism-array
#13
Huling Jiang, Zepeng Ping, Luming Wang, Yuxia Jin, Suping Li, Xiaodan Liu, Zhengyou Miao
OBJECTIVE: To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays. METHODS: The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray. RESULTS: The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29171036/prenatal-diagnosis-of-posterior-fossa-anomalies-additional-value-of-chromosomal-microarray-analysis-in-fetuses-with-cerebellar-hypoplasia
#14
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Hui Zhu, Yi Zhang, Qun Fang, Yanmin Luo
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). METHODS: This study involved 77 pregnancies with PFAs who underwent CMA. RESULTS: Chromosomal aberrations including pathogenic CNVs and variants of unknown significance (VOUS) were detected in 31.2% (24/77) of all cases by CMA and in 18...
November 23, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29161772/microarray-analysis-of-gene-expression-in-the-cyclooxygenase-cox-knockout-mice-a-connection-to-autism-spectrum-disorder
#15
Ravneet Rai-Bhogal, Eizaaz Ahmad, Hongyan Li, Dorota A Crawford
The cellular and molecular events that take place during brain development play an important role in governing function of the mature brain. Lipid signalling molecules such as prostaglandin E2 (PGE2 ) play an important role in healthy brain development. Abnormalities along the COX/PGE2 signalling pathway due to genetic or environmental causes have been linked to Autism Spectrum Disorders (ASDs). This study aims to evaluate the effect of altered COX/PGE2 signalling on development and function of the prenatal brain using male mice lacking cyclooxygenase-1 and -2 (COX-1(-/-) and COX-2(-/-) ) as potential model systems of ASD...
November 21, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29146387/dilemmas-in-genetic-counseling-for-low-penetrance-neuro-susceptibility-loci-detected-on-prenatal-chromosomal-microarray-analysis
#16
Dana Brabbing-Goldstein, Adi Reches, Ran Svirsky, Anat Bar-Shira, Yuval Yaron
BACKGROUND: Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6% - 4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging, because the significance is often unclear and the clinical implications may be difficult to predict...
November 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29131052/prenatal-screening-for-22q11-2-deletion-using-a-targeted-microarray-based-cell-free-dna-test
#17
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks, Jacques C Jani, Renee Stokowski
OBJECTIVE: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion. METHODS: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing...
November 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#18
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#19
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#20
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
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