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prenatal microarray

Adi Reches, Liran Hiersch, Sharon Simchoni, Dalit Barel, Rotem Greenberg, Liat Ben Sira, Gustavo Malinger, Yuval Yaron
OBJECTIVE: We describe our experience with whole-exome sequencing (WES) in fetuses with central nervous system (CNS) abnormalities following a normal chromosomal microarray result. METHODS: During the study period (2014-2017) 7 cases (9 fetuses) with prenatally diagnosed CNS abnormality, whose chromosomal microarray analysis was negative, were offered whole-exome sequencing analysis. RESULTS: A pathogenic or a likely pathogenic variant was found in 5 cases including a previously described, likely pathogenic de novo TUBA1A variant (Case #1); a previously described homozygous VRK1 variant (Case #2); an X-linked ARX variant (Case #3); a likely pathogenic heterozygous variant in the TUBB3 gene (Case #5)...
August 14, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
Ranjit I Kylat
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11...
September 2018: Journal of Pediatric Genetics
Shen Gu, Madison Jernegan, Ignatia B Van den Veyver, Sandra Peacock, Janice Smith, Amy Breman
OBJECTIVE: This study aims to establish the incidence and implications of CPM in the context of prenatal CMA. METHODS: We retrospectively reviewed prenatal array data on 1382 consecutive CVS specimens spanning the past 6 years, focusing on those for which whole CVS biopsy (both cytotrophoblast and mesenchymal cells) was used for CMA and cultured cells (primarily mesenchyme) was also analyzed or AF/newborn blood was used for confirmation, to determine the frequency of mosaic abnormal findings that were the result of CPM...
August 9, 2018: Prenatal Diagnosis
Elena Repnikova, Jennifer Roberts, Alexander Kats, Sultan Habeebu, Caitlin Schwager, Julie Joyce, Michelle Manalang, Shivarajan Amudhavalli
Biparental/androgenetic mosaicism is a rarely diagnosed condition in humans. It is typically ascertained prenatally on the basis of placental mesenchymal dysplasia (PMD). Fetal outcome can range from demise due to intrauterine growth retardation to term delivery. Most of the published cases of liveborns represent females that are either completely normal or have features of Beckwith-Wiedemann syndrome (BWS). Only two healthy liveborn males with mosaicism detected in the placenta have been described to date...
August 7, 2018: Clinical Genetics
Junhui Wan, Ru Li, Yongling Zhang, Xiangyi Jing, Qiuxia Yu, Fatao Li, Yan Li, Lina Zhang, Cuixing Yi, Jian Li, Dongzhi Li, Can Liao
OBJECTIVE: To report the incidence and pregnancy outcome of autosomal aneuploidies other than common trisomy 21, 18 and 13 detected by noninvasive prenatal testing (NIPT) at a single center. METHODS: Pregnant women undergoing NIPT from February 2015 to January 2018 in our center were offered expanded screening to include rare autosomal aneuploidies. Aneuploidies included extra copy chromosomes (most likely trisomies) and decreased copy chromosomes (most likely monosomies)...
August 5, 2018: Prenatal Diagnosis
Erica Schindewolf, Nahla Khalek, Mark P Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Crowley, Elaine H Zackai, Donna M McDonald-McGinn, Julie S Moldenhauer
22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A retrospective chart review was performed on a total of 42 cases with confirmed 22q11.2DS to obtain prenatal findings, perinatal outcomes and diagnostic confirmation...
July 28, 2018: American Journal of Medical Genetics. Part A
Tingting Song, Shanning Wan, Yu Li, Ying Xu, Yinghui Dang, Yunyun Zheng, Chunyan Li, Jiao Zheng, Biliang Chen, Jianfang Zhang
BACKGROUND: With the increasing availability of chromosomal microarray analysis (CMA) for congenital heart defect (CHD), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed to better define the penetrance of genetic variants. The aim of the study was to examine the association between CMA and CHDs in fetuses with normal karyotype. METHODS: This was a retrospective study of 190 fetuses with normal karyotype that underwent CMA after a diagnosis of CHD by fetal ultrasound...
July 25, 2018: Journal of Clinical Laboratory Analysis
Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu, Fang Yang
Background: Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18-32 weeks. Methods: This study includes singleton fetuses with the estimated fetal weight (EFW) using the formula of Hadlock C below the 10th percentile for gestational age. FGRs without structural anomalies were selected, and the ones at high risk of noninvasive prenatal testing for trisomy 13, 18 and 21 would be excluded...
2018: Molecular Cytogenetics
Shama L Bhola, Aggie W M Nieuwint, Kyra E Stuurman
In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected.
July 2018: Clinical Case Reports
Claire N Singletary, Nevena Cvjetkovic Krstic, Jennifer L Czerwinski, Meagan Giles Choates, Chelsea Wagner
OBJECTIVE: Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a 4-year time period. METHODS: Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information. RESULTS: Nine hundred forty-six diagnostic procedures were performed at our institution over a 4-year time period including 259 CVS and 687 amniocentesis procedures...
July 2, 2018: Prenatal Diagnosis
Fergus Scott, Michael Bonifacio, Rhiannon Sandow, Katie Ellis, Maria-Elisabeth Smet, Andrew McLennan
OBJECTIVE: Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. METHODS: A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. RESULTS: There were 28 RATs identified in 23 388 samples (one in 835), the most common being trisomy 7 (n = 6), followed by trisomy 16 (n = 4) and trisomy 22 (n = 3)...
June 28, 2018: Prenatal Diagnosis
Preeya Desai, Hannah Haber, Jessica Bulafka, Amita Russell, Rebecca Clifton, Julia Zachary, Seonjoo Lee, Tianshu Feng, Ronald Wapner, Catherine Monk, Wendy K Chung
OBJECTIVE: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well-being and perceptions of children's development. METHODS: Parents (n = 138) of 83 children who underwent prenatal chromosomal microarray testing completed questionnaires assessing perception of children's development, parent-child attachment, parental mood, parenting competence, martial satisfaction, satisfaction with the decision to undergo testing, and attitudes about genetics at age 12 and/or 36 months...
June 28, 2018: Prenatal Diagnosis
Patricia Minehart Miron
Amniotic fluid obtained via amniocentesis provides a source of fetal material used in prenatal diagnosis. The fluid may be used directly for biochemical analyses, fluorescence in situ hybridization (FISH), and isolation of DNA for molecular studies, including chromosomal microarray analysis (CMA). The fluid is typically cultured as a source of metaphase cells for chromosome analysis and to provide additional material for biochemical and DNA-based testing. This unit describes an in situ method for the preparation, culture, and harvest of amniotic fluid samples for metaphase chromosome analysis...
June 28, 2018: Current Protocols in Human Genetics
Mingyu Xu, Yiting Ji, Ting Zhang, Xiaodong Jiang, Yun Fan, Juan Geng, Fei Li
Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13...
June 9, 2018: Neuroscience Bulletin
Xinyao Zhou, Natalie Chandler, Linbei Deng, Jia Zhou, Meizhen Yuan, Luming Sun
OBJECTIVE: This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. METHODS: Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray)...
June 15, 2018: Prenatal Diagnosis
Wawrzyniec Rieder, Scott White, George McGillivray, Lisa Hui
Cell-free DNA screening has quickly become established in Australia as an accurate - albeit costly - prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers...
June 13, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Haiyan Sun, Caixia Lei, Shuo Zhang, Min Xiao, Junping Wu, Jialong Wu, Saijuan Zhu, Jing Zhou, Yueping Zhang
OBJECTIVE: To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6). METHODS: Fetal cells were subjected to in situ culturing and G-banded chromosomal analysis. DNA samples of the fetuses and their parents were also analyzed with single nucleotide polymorphism microarray (SNP array). RESULTS: Both fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Emily Lostchuck, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To assess trends in ultrasound-indicated prenatal diagnostic testing over the past two decades, in the context of rapidly-changing practices in aneuploidy screening and chromosome analysis. METHODS: Retrospective analysis of ultrasound-indicated amniocenteses and chorionic villus sampling from the Australian state of Victoria from 1994-2016. Ultrasound-indicated prenatal diagnostic testing included those performed for: fetal structural abnormality, fetal death, fetal growth restriction, abnormal amniotic fluid volume, genetic "soft marker", or unspecified ultrasound abnormality...
June 6, 2018: Ultrasound in Obstetrics & Gynecology
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbing Xie, Yuanyuan Xiao, Hongmei Zhu, Ting Hu, Zhu Zhang, Qian Zhu, Zhiying Liu, Shanlin Liu, He Wang, Mengnan Xu, Zhilin Ren, Fuli Yu, David S Cram, Hongqian Liu
BACKGROUND: Next-generation sequencing is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One next-generation sequencing methodology, copy number variation sequencing, has been shown to deliver high reliability, accuracy, and reproducibility for detection of fetal copy number variations in prenatal samples. However, its clinical utility as a first-tier diagnostic method has yet to be demonstrated in a large cohort of pregnant women referred for fetal chromosome testing...
May 29, 2018: American Journal of Obstetrics and Gynecology
Sau W Cheung, Weimin Bi
In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus...
June 2018: Expert Review of Molecular Diagnostics
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