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Prenatal array

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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/29765129/intrauterine-smoke-exposure-deregulates-lung-function-pulmonary-transcriptomes-and-in-particular-insulin-like-growth-factor-igf-1-in-a-sex-specific-manner
#2
Stefan Dehmel, Petra Nathan, Sabine Bartel, Natalia El-Merhie, Hagen Scherb, Katrin Milger, Gerrit John-Schuster, Ali Oender Yildirim, Machteld Hylkema, Martin Irmler, Johannes Beckers, Bianca Schaub, Oliver Eickelberg, Susanne Krauss-Etschmann
Prenatal exposure to tobacco smoke is a significant risk-factor for airway disease development. Furthermore, the high prevalence of pregnant smoking women requires the establishment of strategies for offspring lung protection. Therefore, we here aimed to understand the molecular mechanism of how prenatal smoke exposure affects fetal lung development. We used a mouse model recapitulating clinical findings of prenatally exposed children, where pregnant mice were exposed to smoke until c-section or spontaneous delivery, and offspring weight development and lung function was monitored...
May 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29753200/substance-exposed-newborn-infants-and-public-health-law-differences-in-addressing-the-legal-mandate-to-report
#3
Jordan J Hoerr, Anthony M Heard, Meredith M Baker, Joshua Fogel, Anne Elizabeth Glassgow, William C Kling, Maureen D Clark, James P Ronayne
Prenatal exposure to illicit substances is a finding that typically requires reporting to a child protective services agency. We examine whether there is differential reporting to two public agencies, and whether it varies by race/ethnicity and region. We also study predictors of indicating a maltreatment report as credible. Data on positive neonatal toxicology reports were obtained from the Illinois Department of Public Health (IDPH) and the Illinois Department of Children and Family Services (DCFS). Variation in reporting rates by race/ethnicity and region were compared with Pearson chi-square analysis...
May 9, 2018: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#4
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29723752/prenatal-lead-cadmium-and-mercury-exposure-and-associations-with-motor-skills-at-age-7-years-in-a-uk-observational-birth-cohort
#5
Caroline M Taylor, Alan M Emond, Raghu Lingam, Jean Golding
BACKGROUND: Lead and mercury are freely transferred across the placenta, while cadmium tends to accumulate in the placenta. Each contributes to adverse neurological outcomes for the child. Although prenatal heavy metal exposure has been linked with an array of neurodevelopmental outcomes in childhood, its association with the development of motor skills in children has not been robustly studied. AIMS/OBJECTIVE: The aim of the present study was to investigate the association between prenatal exposure to lead, cadmium and mercury, measured as maternal blood concentrations during pregnancy, and motor skills, measured as subtests of the Movement Assessment Battery for Children (Movement ABC) at age 7 years in a large sample of mother-child pairs enrolled in a UK observational birth cohort study (Avon Longitudinal Study of Parents and Children, ALSPAC)...
April 30, 2018: Environment International
https://www.readbyqxmd.com/read/29721103/-mest-mediates-the-impact-of-prenatal-bisphenol-a-exposure-on-long-term-body-weight-development
#6
Kristin M Junge, Beate Leppert, Susanne Jahreis, Dirk K Wissenbach, Ralph Feltens, Konrad Grützmann, Loreen Thürmann, Tobias Bauer, Naveed Ishaque, Matthias Schick, Melanie Bewerunge-Hudler, Stefan Röder, Mario Bauer, Angela Schulz, Michael Borte, Kathrin Landgraf, Antje Körner, Wieland Kiess, Martin von Bergen, Gabriele I Stangl, Saskia Trump, Roland Eils, Tobias Polte, Irina Lehmann
Background: Exposure to endocrine-disrupting chemicals can alter normal physiology and increase susceptibility to non-communicable diseases like obesity. Especially the prenatal and early postnatal period is highly vulnerable to adverse effects by environmental exposure, promoting developmental reprogramming by epigenetic alterations. To obtain a deeper insight into the role of prenatal bisphenol A (BPA) exposure in children's overweight development, we combine epidemiological data with experimental models and BPA-dependent DNA methylation changes...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29666952/utility-of-diffusion-weighted-mr-imaging-in-the-diagnosis-of-placenta-accreta-spectrum-abnormality
#7
Bhagya Sannananja, Anna Ellermeier, Daniel S Hippe, Thomas C Winter, Stella K Kang, Susanna I Lee, Mark R Kilgore, Manjiri K Dighe
PURPOSE: The aim of this study was to evaluate the utility of added DWI sequences as an adjunct to traditional MR imaging in the evaluation of abnormal placentation in patients with suspicion for placenta accreta spectrum abnormality or morbidly adherent placenta (MAP). MATERIALS AND METHODS: The study was approved by local ethics committee. The subjects included pregnant women with prenatal MRI performed between July 2013 to July 2015. All imaging was performed on a Philips 1...
April 17, 2018: Abdominal Radiology
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
#8
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/29609228/-prenatal-diagnosis-of-women-with-an-adverse-reproductive-history-using-both-traditional-karyotyping-and-snp-array
#9
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/29569732/unusual-twinning-additional-findings-during-prenatal-diagnosis-of-twin-zygosity-by-single-nucleotide-polymorphism-snp-array
#10
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Yanmin Luo
OBJECTIVE: To evaluate the incidence and characteristics of unusual twinning by using single nucleotide polymorphism (SNP) array to identify twin zygosity. METHODS: This study reviewed 386 twin pairs who were seen for prenatal or postnatal diagnosis and underwent SNP array to detect zygosity. RESULTS: The incidence of monozygotic (MZ) twins was 11.36% (25/220) in the assisted reproductive technology (ART)-conceived group. Monochorionic dizygotic twins represented 3 of 24 monochorionic ART-conceived twin pairs (3/24, 12...
March 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29551096/review-ontology-and-endocrinology-of-the-reproductive-system-of-bulls-from-fetus-to-maturity
#11
M McGowan, M K Holland, G Boe-Hansen
This review focuses on current understanding of prenatal, prepubertal and post-pubertal development of the male reproductive system of cattle. The critical developmental events occur during the first 3 to 4 months of gestation and the first ~6 to 9 months after birth. The Wilms Tumor-1 and SRY proteins play critical roles in early development and differentiation of the fetal testis, which in turn drives gestational development of the entire male reproductive system. The hypothalamic-pituitary-gonadal axis matures earlier in the bovine fetus than other domestic species with descent of the testes into the scrotum occurring around the 4th month of gestation...
March 19, 2018: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29546377/the-long-term-impact-of-folic-acid-in-pregnancy-on-offspring-dna-methylation-follow-up-of-the-aberdeen-folic-acid-supplementation-trial-afast
#12
Rebecca C Richmond, Gemma C Sharp, Georgia Herbert, Charlotte Atkinson, Caroline Taylor, Sohinee Bhattacharya, Doris Campbell, Marion Hall, Nabila Kazmi, Tom Gaunt, Wendy McArdle, Susan Ring, George Davey Smith, Andy Ness, Caroline L Relton
Background: It has been proposed that maternal folic-acid supplement use may alter the DNA-methylation patterns of the offspring during the in-utero period, which could influence development and later-life health outcomes. Evidence from human studies suggests a role for prenatal folate levels in influencing DNA methylation in early life, but this has not been extended to consider persistent effects into adulthood. Methods: To better elucidate the long-term impact of maternal folic acid in pregnancy on DNA methylation in offspring, we carried out an epigenome-wide association study (EWAS) nested within the Aberdeen Folic Acid Supplementation Trial (AFAST-a trial of two different doses: 0...
March 12, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29533680/copy-number-variation-in-fetal-alcohol-spectrum-disorder
#13
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29518222/genome-wide-average-dna-methylation-is-determined-in-utero
#14
Shuai Li, Ee Ming Wong, Pierre-Antoine Dugué, Allan F McRae, Eunae Kim, Ji-Hoon Eric Joo, Tuong L Nguyen, Jennifer Stone, Gillian S Dite, Nicola J Armstrong, Karen A Mather, Anbupalam Thalamuthu, Margaret J Wright, David Ames, Roger L Milne, Jeffrey M Craig, Richard Saffery, Grant W Montgomery, Yun-Mi Song, Joohon Sung, Timothy D Spector, Perminder S Sachdev, Graham G Giles, Melissa C Southey, John L Hopper
Background: Investigating the genetic and environmental causes of variation in genome-wide average DNA methylation (GWAM), a global methylation measure from the HumanMethylation450 array, might give a better understanding of genetic and environmental influences on methylation. Methods: We measured GWAM for 2299 individuals aged 0 to 90 years from seven twin and/or family studies. We estimated familial correlations, modelled correlations with cohabitation history and fitted variance components models for GWAM...
March 6, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29517175/mosaic-male-fetus-of-turner-syndrome-with-partial-chromosome-y-a-case-report
#15
Dan Xue, Dong-Hua Cao, Kai Mu, Yuan Lv, Jun Yang
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age...
March 8, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29501611/12q14-microdeletion-syndrome-a-family-with-short-stature-and-silver-russell-syndrome-srs-like-phenotype-and-review-of-the-literature
#16
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29493577/mosaic-maternal-10qter-deletions-are-associated-with-fra10b-expansions-and-may-cause-false-positive-noninvasive-prenatal-screening-results
#17
Karin Huijsdens-van Amsterdam, Roy Straver, Merel C van Maarle, Alida C Knegt, Diane Van Opstal, Frank Sleutels, Dominique Smeets, Erik A Sistermans
PurposeUsing genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→︀qter) deletions started close to the FRA10B fragile site in 10q25, we investigated whether the pregnant women were indeed carriers of FRA10B.MethodsWe performed NIPS analysis for all autosomes using single-read sequencing. Analysis was done with the WISECONDOR algorithm. Culture of blood lymphocytes with bromodeoxyuridine was used to detect FRA10B expansions...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29458884/late-onset-fetal-bilateral-pleural-effusions-associated-with-down-syndrome
#18
Shih-Ting Lai, Chih-Ping Chen, Chen-Ju Lin, Chin Yuan Hsu, Peih-Shan Wu, Chen Chi Lee, Chen Wen Pan, Wayseen Wang
OBJECTIVE: We present two cases of late-onset bilateral fetal pleural effusions associated with fetal Down syndrome. CASE REPORTS: Case 1. A 33-year-old Vietnamese woman had undergone regular sonographic examinations since 23 weeks of gestation and no abnormality had been noted. However, bilateral moderate pleural effusions were found at 33 weeks of gestation, and massive pleural effusion, ascites and polyhydramnios developed at 34 weeks of gestation. Aspiration of the pleural effusion was subsequently performed...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458882/prenatal-diagnosis-of-a-0-7-mb-17p13-3-microdeletion-encompassing-ywhae-and-crk-but-not-pafah1b1-in-a-fetus-without-ultrasound-abnormalities
#19
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar atrophy in the husband. Amniocentesis revealed a karyotype of 46,XX. Simultaneously array comparative genomic hybridization (aCGH) analysis (using 60,000 probes) revealed a 0...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#20
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
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