keyword
MENU ▼
Read by QxMD icon Read
search

Prenatal array

keyword
https://www.readbyqxmd.com/read/27891191/birth-weight-for-gestational-age-is-associated-with-dna-methylation-at-birth-and-in-childhood
#1
Golareh Agha, Hanine Hajj, Sheryl L Rifas-Shiman, Allan C Just, Marie-France Hivert, Heather H Burris, Xihong Lin, Augusto A Litonjua, Emily Oken, Dawn L DeMeo, Matthew W Gillman, Andrea A Baccarelli
BACKGROUND: Both higher and lower fetal growth are associated with cardio-metabolic health later in life, suggesting that prenatal developmental programming determines long-term cardiovascular disease risk. Epigenetic mechanisms, which orchestrate fetal growth and development, may offer insight on the early programming of health and disease. We investigated whether birth weight-for-gestational is associated with DNA methylation at birth and mid-childhood, measured via the Infinium 450K array...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27885054/impact-of-uteroplacental-insufficiency-on-postnatal-rat-male-gonad
#2
Valentina Pampanini, Daniela Germani, Antonella Puglianiello, Jan-Bernd Stukenborg, Ahmed Reda, Iuliia Savchuk, Kristin Ros Kjartansdóttir, Stefano Cianfarani, Olle Soder
BACKGROUND: Prenatal events such as intrauterine growth restriction can affect gonadal development of the offspring and have an impact on reproductive health. PURPOSE: To investigate the effects of intrauterine growth restricted induced by uterine artery ligation on the postnatal rat testis. METHODS: Pregnant rats underwent uterine artery ligation at day 19 of gestation. Offspring were sacrificed at 5, 20 and 40 days post-partum (dpp). At sacrifice, one gonad was snap frozen in liquid nitrogen and processed for RNA and steroid extraction...
November 24, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#3
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27883173/clinical-application-of-snp-array-analysis-in-first-trimester-pregnancy-loss-a-prospective-study
#4
Yan Wang, Qing Cheng, Lulu Meng, Chunyu Luo, Huanran Hu, Jingjing Zhang, Jian Cheng, Tianhui Xu, Tao Jiang, Dong Liang, Ping Hu, Zhengfeng Xu
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using SNP array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27846804/clinical-utility-of-array-comparative-genomic-hybridisation-in-prenatal-setting
#5
Luca Lovrecic, Ziga Iztok Remec, Marija Volk, Gorazd Rudolf, Karin Writzl, Borut Peterlin
BACKGROUND: The objective of reported study was to evaluate the clinical utility of prenatal microarray testing for submicroscopic genomic imbalances in routine prenatal settings and to stratify the findings according to the type of fetal ultrasound anomaly. METHODS: From July 2012 to October 2015 chromosomal microarray testing was performed in 218 fetuses with varying indications for invasive prenatal diagnosis: abnormal karyotype, ultrasound anomalies, pathogenic variant in previous pregnancy or carriership in a parent...
November 15, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27828986/plasma-mirna-profiles-in-pregnant-women-predict-infant-outcomes-following-prenatal-alcohol-exposure
#6
Sridevi Balaraman, Jordan J Schafer, Alexander M Tseng, Wladimir Wertelecki, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Christina D Chambers, Rajesh C Miranda
Fetal alcohol spectrum disorders (FASD) are difficult to diagnose since many heavily exposed infants, at risk for intellectual disability, do not exhibit craniofacial dysmorphology or growth deficits. Consequently, there is a need for biomarkers that predict disability. In both animal models and human studies, alcohol exposure during pregnancy resulted in significant alterations in circulating microRNAs (miRNAs) in maternal blood. In the current study, we asked if changes in plasma miRNAs in alcohol-exposed pregnant mothers, either alone or in conjunction with other clinical variables, could predict infant outcomes...
2016: PloS One
https://www.readbyqxmd.com/read/27822319/effect-of-prenatal-dha-supplementation-on-the-infant-epigenome-results-from-a-randomized-controlled-trial
#7
Susan J van Dijk, Jing Zhou, Timothy J Peters, Michael Buckley, Brodie Sutcliffe, Yalchin Oytam, Robert A Gibson, Andrew McPhee, Lisa N Yelland, Maria Makrides, Peter L Molloy, Beverly S Muhlhausler
BACKGROUND: Evidence is accumulating that nutritional exposures in utero can influence health outcomes in later life. Animal studies and human epidemiological studies have implicated epigenetic modifications as playing a key role in this process, but there are limited data from large well-controlled human intervention trials. This study utilized a large double-blind randomized placebo-controlled trial to test whether a defined nutritional exposure in utero, in this case docosahexaenoic acid (DHA), could alter the infant epigenome...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27812507/gene-expression-in-the-mouse-brain-following-early-pregnancy-exposure-to-ethanol
#8
Christine R Zhang, Suyinn Chong
Exposure to alcohol during early embryonic or fetal development has been linked with a variety of adverse outcomes, the most common of which are structural and functional abnormalities of the central nervous system [1]. Behavioural and cognitive deficits reported in individuals exposed to alcohol in utero include intellectual impairment, learning and memory difficulties, diminished executive functioning, attention problems, poor motor function and hyperactivity [2]. The economic and social costs of these outcomes are substantial and profound [3], [4]...
December 2016: Genomics Data
https://www.readbyqxmd.com/read/27794163/prenatal-diagnosis-of-submicroscopic-chromosomal-aberrations-in-fetuses-with-ventricular-septal-defects-by-chromosomal-microarray-based-analysis
#9
Liu Du, Hong-Ning Xie, Lin-Huan Huang, Ying-Jun Xie, Li-Hong Wu
OBJECTIVES: To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype. METHODS: Fetuses with VSDs and normal karyotypes were investigated by using an Affymetrix CytoScan HD array. The cases were classified as isolated or nonisolated VSDs. RESULTS: Among the 52 VSD fetuses, 22 (42.3%) had isolated defects and 30 (57.7%) had additional other ultrasound anomalies...
October 28, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27783451/therapeutic-and-pathological-roles-of-fibroblast-growth-factors-in-pulmonary-diseases
#10
REVIEW
Elie El Agha, Werner Seeger, Saverio Bellusci
Fibroblast growth factors (FGFs) constitute a large family of polypeptides that are involved in many biological processes, ranging from prenatal cell-fate specification and organogenesis to hormonal and metabolic regulation in postnatal life. During embryonic development, these growth factors are important mediators of the crosstalk among ectoderm, mesoderm and endoderm-derived cells and they instruct the spatial and temporal growth of organs and tissues such as the brain, bone, lung, gut etc. The involvement of FGFs in postnatal lung homeostasis is a growing field and there is emerging literature about their roles in lung pathophysiology...
October 26, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27769567/genome-wide-dna-methylation-changes-in-a-mouse-model-of-infection-mediated-neurodevelopmental-disorders
#11
Juliet Richetto, Renaud Massart, Ulrike Weber-Stadlbauer, Moshe Szyf, Marco A Riva, Urs Meyer
BACKGROUND: Prenatal exposure to infectious or inflammatory insults increases the risk of neurodevelopmental disorders. Using a well-established mouse model of prenatal viral-like immune activation, we examined whether this pathological association involves genome-wide DNA methylation differences at single nucleotide resolution. METHODS: Prenatal immune activation was induced by maternal treatment with the viral mimetic polyriboinosinic-polyribocytidylic acid in middle or late gestation...
August 12, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27761919/genome-wide-copy-number-analysis-on-dna-from-fetal-cells-isolated-from-the-blood-of-pregnant-women
#12
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B Van denVeyver, Laird Jackson, Lotte Hatt, Palle Schelde, Niels Uldbjerg, Else Marie Vestergaard, Li Zhao, Rui Chen, Chad A Shaw, Amy M Breman, Arthur L Beaudet
OBJECTIVE: Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT. METHODS: We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome...
October 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27751426/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-rec-10-dup-10p-inv-10-p11-2q26-3-in-a-fetus-associated-with-paternal-pericentric-inversion
#13
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27751425/molecular-cytogenetic-characterization-of-an-inv-dup-15-chromosome-presenting-as-a-small-supernumerary-marker-chromosome-associated-with-the-inv-dup-15-syndrome
#14
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27751421/mosaic-trisomy-17-at-amniocentesis-prenatal-diagnosis-molecular-genetic-analysis-and-literature-review
#15
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. MATERIALS AND METHODS: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27751420/molecular-cytogenetic-characterization-of-xp22-32%C3%A2-pter-deletion-and-xq26-3%C3%A2-qter-duplication-in-a-male-fetus-associated-with-46-y-rec-x-dup-xq-inv-x-p22-3q26-3-a-hypoplastic-left-heart-short-stature-and-maternal-x-chromosome-pericentric-inversion
#16
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27713767/prenatal-diagnosis-of-1p34-3-interstitial-microdeletion-by-acgh-in-a-fetus-with-jaw-bone-abnormalities
#17
Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis
BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE PRESENTATION: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27699637/cytokine-profile-and-maternal-depression-and-anxiety-symptoms-in-mid-pregnancy-the-finnbrain-birth-cohort-study
#18
Linnea Karlsson, Niko Nousiainen, Noora M Scheinin, Mikael Maksimow, Marko Salmi, Soili M Lehto, Mimmi Tolvanen, Heikki Lukkarinen, Hasse Karlsson
Maternal prenatal psychological symptoms are associated with child health outcomes, e.g., atopic diseases. Altered prenatal functioning of the immune system is a potential mechanism linking maternal symptoms with child health. Research on prenatal distress and cytokines is warranted. The study population comprised consecutive N = 139 women from a general population-based FinnBrain Birth Cohort Study. Standardized questionnaires for depressive, overall anxiety, and pregnancy-related anxiety symptoms were used...
October 4, 2016: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/27642530/novel-hypomorphic-mutation-in-fancd2-gene-observed-in-a-fetus-with-multiple-congenital-anomalies
#19
Radoslava Vazharova, Svetlana Vragaleva, Violeta Dimitrova, Samuil Ivanov, Lubomir Balabanski, Maxim Malinov, Draga Toncheva
Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27631491/noninvasive-prenatal-paternity-testing-nipat-through-maternal-plasma-dna-sequencing-a-pilot-study
#20
Haojun Jiang, Yifan Xie, Xuchao Li, Huijuan Ge, Yongqiang Deng, Haofang Mu, Xiaoli Feng, Lu Yin, Zhou Du, Fang Chen, Nongyue He
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels in order to verify the performance in clinical cases...
2016: PloS One
keyword
keyword
112883
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"