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prenatal microarray

Leslie Durham, Ramesha Papanna, Blair Stevens, Sarah Noblin, David Rodriguez-Buritica, S Shahrukh Hashmi, Nevena Krstic
OBJECTIVE: We evaluated what prenatal genetic counselor's (GCs) practices, attitudes, and barriers are in regards to prenatal microarray since the publication of the ACOG and SMFM guidelines for microarray use. METHODS: This was a survey based cross-sectional study of English-speaking, board certified or eligible genetic counselors who currently practice prenatal genetic counseling. RESULTS: Of 192 respondents, 183 (95%) have incorporated CMA into clinical practice with 64% believing that the benefits of CMA outweigh the harms, and 52% agreeing that CMA should be offered to all women regardless of indication...
February 8, 2019: Prenatal Diagnosis
Jia-Chi Wang, Jeff Radcliff, Sandra J Coe, Loretta W Mahon
OBJECTIVE: We evaluated the effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray (CMA) on the detection of copy number variants (CNVs) and uniparental disomy (UPD) in prenatal diagnosis. METHODS: Five thousand twenty-six consecutive prenatal specimens (>98% high-risk pregnancy) were studied by high-resolution CMA, with cutoffs of 50 kb for losses and 200 kb for gains in nontargeted regions and 20 kb for losses and 100 kb for gains in targeted regions...
February 8, 2019: Prenatal Diagnosis
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey, Rhiannon Mellis, Sarah Robart, Ian R Berry, Kate E Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L Edwards, Carol Gardiner, Alex Henderson, Simon T Holden, Tessa Homfray, Tracy Lester, Rebecca A Lewis, Ruth Newbury-Ecob, Katrina Prescott, Oliver W Quarrell, Simon C Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine J Tooley, Pradeep C Vasudevan, Astrid P Weber, Diana G Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H Scott, Mark D Kilby, Lyn S Chitty, Matthew E Hurles, Eamonn R Maher
BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting...
January 31, 2019: Lancet
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra, Zhong Ren, Xiaolin Zhu, Caroline Mebane, Odelia Nahum, Quanli Wang, Sitharthan Kamalakaran, Colin Malone, Kwame Anyane-Yeboa, Russell Miller, Brynn Levy, David B Goldstein, Ronald J Wapner
BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies...
January 31, 2019: Lancet
W J Wu, L T Yeh, G C Ma, S P Chang, D J Lee, M Chen
BACKGROUND/PURPOSE: With the evolution of assisted fertility and prenatal diagnostic technology, the prevalence of multi-fetal pregnancy increased, followed by the demand for prenatal intervention if genomic aberration was detected. How to distinguish the affected foetus from the normal co-twin before selective fetal reduction is therefore challenging. OBJECTIVES: We retrospectively reviewed the cases of dichorionic twins at our centre during 2004-2018, where selective fetal reduction was requested because one foetus carried a pathogenic genomic aberration...
January 29, 2019: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Diana W Bianchi
In some parts of the world, prenatal screening using analysis of circulating cell-free (cf) DNA in the plasma of pregnant women has become part of routine prenatal care with limited professional guidelines and without significant input from the Turner syndrome community. In contrast to the very high positive predictive values (PPVs) achieved with cfDNA analysis for trisomy 21 (91% for high-risk and 82% for low-risk cases), the PPVs for monosomy X are much lower (~26%). This is because the maternal plasma sample contains both maternal cfDNA and placental DNA, which is a proxy for the fetal genome...
January 31, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Hagit Daum, Vardiella Meiner, Nuphar Hacohen, Naama Zvi, Avital Eilat, Revital Drai-Hasid, Simcha Yagel, Shamir Zenvirt, Ayala Frumkin
BACKGROUND: Chromosomal microarray analysis (CMA) in pregnancy is the modality of choice for prenatal diagnosis of fetal malformations, diagnosing microdeletion/duplication syndromes. We demonstrate further utilities of CMA, by diagnosing monogenic disease, imprinting disorders and uniparental disomy (UPD). METHODS: We performed CMA using Affymetrix CytoScan array for 6995 pregnancies for all indications since November 2013 in a tertiary referral hospital. RESULTS: Four fetuses had an unforeseen CMA result, shedding light on the clinical presentation...
January 28, 2019: Ultrasound in Obstetrics & Gynecology
Mehmet Tunç Canda, Latife Doğanay Çağlayan, Ayşe Banu Demir, Namık Demir
Peters plus syndrome is a rare congenital disorder that includes ocular anterior segment defects of the classic Peter's anomaly, and is mostly associated with craniofacial and skeletal defects. A 21-week fetus was referred for further evaluation due to a suspicion of fetal hydrocephalus. An ultrasound examination revealed hyperechogenic lenses, microphthalmia, hypotelorism, retrognathia, mild ventriculomegaly, absence of the cavum septum pellucidum, and short stature. Amniocentesis and further microarray analysis revealed normal chromosomal copy numbers including the gene B3GALTL ...
December 2018: Turkish Journal of Obstetrics and Gynecology
Xin-Rong Zhao, Li Gao, Yi Wu, Yan-Lin Wang
OBJECTIVE: To evaluate submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency (NT) and normal karyotype. METHODS: A total of 319 fetuses with increased NT (≥3.0 mm) were tested using conventional karyotyping. When cytogenetic analysis showed normal chromosomes, the parents then received a consultation for chromosomal microarray (CMA) analysis, and a subsequent morphology scan was performed between 20 and 24 weeks gestation. Submicroscopic chromosomal abnormalities were assessed and compared between the fetuses with and without structural defects...
January 27, 2019: Journal of Maternal-fetal & Neonatal Medicine
Brynn Levy, Rachel D Burnside
Microarray testing is the recommended first-tier diagnostic test for women who undergo invasive prenatal diagnostic procedures. It is well established that microarray analysis provides information regarding copy number for changes (or copy number variants, CNVs) that may be below the resolution level of standard chromosome analysis, and that such CNVs are not related to maternal age. What may not be appreciated by ordering providers, however, are the technical differences among laboratories with respect to the established laboratory cutoff values for reporting, the definition of targeted versus non-targeted regions, and how these differences may affect the interpretation and reporting of findings which, in turn, affects counseling and possible follow up testing of family members...
January 23, 2019: Prenatal Diagnosis
Yunyun Zheng, Biliang Chen, Shanning Wan, Hui Xu, Yinghui Dang, Tingting Song, Yu Li, Jianfang Zhang
BACKGROUND: Non-invasive prenatal testing (NIPT) is extensively used in the detection of fetal trisomies 21, 18, and 13, which is promptly becoming a common clinical practice. Concerned about the clinical application of non-invasive detection of the fetal autosomal duplications or deletion. CASE PRESENTATION: A 34-year-old, healthy pregnant woman was referred to the First Affiliated Hospital of the Air Force Medical University. The ultrasound examination indicates that low-lying placenta, the fetus has a left ventricular bright spot and small amount of pericardial effusion...
January 21, 2019: Journal of Clinical Laboratory Analysis
Dong-Zhi Li, Hai-Shen Tang
OBJECTIVE: The aim of this study was to evaluate the utility of chromosomal microarray (CMA) in patients who were solely referred for a molecular diagnosis. METHODS: During a 2-year period, CMA was the patients' choice whether to opt it or not for those at risk for fetal hemoglobin Bart's disease or β-thalassemia major who were referred for invasive prenatal diagnosis and had a normal fetal genotype. CytoScan 750 K array (Affymetrix Inc, Santa Clara, CA, USA) was used for CMA...
January 16, 2019: Journal of Maternal-fetal & Neonatal Medicine
Shuyuan Li, Xu Han, Yanlin Wang, Songchang Chen, Jianmei Niu, Zhaoxia Qian, Pin Li, Li Jin, Chenming Xu
OBJECTIVE: To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared to standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: A prospective cohort study and systematic review of the literature were conducted. In the prospective cohort study, 123 fetuses with CAKUT, as detected by prenatal ultrasound at our center, were enrolled and evaluated using karyotyping and CMA...
January 16, 2019: Prenatal Diagnosis
Shirley Shuster, Johannes Keunen, Patrick Shannon, Nicholas Watkins, Karen Chong, David Chitayat
OBJECTIVES: To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK). STUDY DESIGN: Pregnancies with IBHK on prenatal ultrasound identified and followed by us between January 1, 2000 and January 1, 2015, were evaluated regarding the etiology and outcome by evaluation of family history, targeted AR-PKD and AD-PKD DNA analysis and microarray analysis, according to renal size and amniotic fluid volume. RESULTS: Of the 52 identified cases, there were 34 cases with enlarged kidneys, 16 with normal size kidneys and 2 with small kidneys...
January 16, 2019: Prenatal Diagnosis
Waliul Chowdhury, Pooja Patak, Farjahan J Chowdhury, Hasnan M Ijaz, Tehmina Zafar, Nick Chatla, Ahmad Khiami
Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome...
November 5, 2018: Curēus
Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li, Aihua Yin
Background: Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases. Case presentation: A 26-year-old healthy woman was referred to our centre at 24 weeks of gestation age. Ultrasound examination indicated she was pregnant with imbalanced development of twins...
2019: Molecular Cytogenetics
Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S W S Shaw, Peter Benn
OBJECTIVE: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). CASE REPORT: We present a pregnancy where the fetus was affected with 22q11.2DS based on chromosome microarray analysis. Discordant results were obtained through two different NIPT methodologies. The pregnancy was identified as high risk by a SNP-based approach but low risk using a genome-wide counting methodology...
January 2019: Taiwanese Journal of Obstetrics & Gynecology
Gabriele Tonni, Marcella Palmisano, Ana Cristina Perez Zamarian, Ana Carolina Rabachini Caetano, Eduardo Félix Martins Santana, Alberto Borges Peixoto, Edecio Armbruster-Moraes, Rodrigo Ruano, Edward Araujo Júnior
The aim of the current review is to report a-CGH abnormalities identified in fetuses with prenatally diagnosed fetal malformations in whom a normal karyotype was diagnosed with conventional cytogenetic analysis. A systematic electronic search of databases (PubMed/Medline, EMBASE/SCOPUS) has been conducted from inception to May, 2017. Bibliographic analysis has been performed according to PRISMA statement for review. The following keywords were used: 'array-CGH' and 'fetal malformations" and "prenatal diagnosis"; alternatively, "microarray", "oligonucleotide array", "molecular biology", "antenatal diagnostics", "fetal diagnostics", "congenital malformations" and "ultrasound" were used to capture both "a-CGH" and "prenatal"...
January 2019: Taiwanese Journal of Obstetrics & Gynecology
Xiang-Yi Jing, Lv-Yin Huang, Li Zhen, Jin Han, Dong-Zhi Li
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. The aim of this study was to present the experience on prenatal diagnosis of 17q12 deletion to further define the prenatal phenotypes of this syndrome. Eleven pregnancies with foetal 17q12 deletion detected by chromosomal microarray (CMA) were retrospectively included at a single Chinese tertiary medical centre. Clinical data were reviewed for these cases, including the maternal demographics, foetal ultrasound findings, CMA results and pregnancy outcomes...
January 11, 2019: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Stacy M Yadava, Elena Ashkinadze
Whole exome sequencing (WES) for prenatal diagnosis has a reported diagnostic yield of 6.2%-57%. Our aim was to identify patients with a high likelihood of genetic diagnosis using WES in cases with fetal ultrasound anomalies. This is a series of five selected cases for prenatal WES at our institution. Pregnant couples were initially identified due to fetal ultrasound anomalies. Candidates for WES for fetal diagnosis had a normal fetal karyotype and negative microarray with at least one of the following: parental consanguinity, large regions of homozygosity on fetal microarray, or high likelihood of single gene disorder based on ultrasound findings...
December 12, 2018: Journal of Genetic Counseling
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