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Prenatal array

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
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
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
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
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
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
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
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
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
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
Jane L Halliday, Cecile Muller, Taryn Charles, Fiona Norris, Joanne Kennedy, Sharon Lewis, Bettina Meiser, Susan Donath, Zornitza Stark, George McGillivray, Melody Menezes, Sian K Smith, Della Forster, Susan Walker, Mark Pertile, David J Amor
This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were recruited in Victoria, Australia. A decision aid for women described 'targeted' analysis as reporting only copy number variants implicated in a highly penetrant and well-described phenotype and 'extended' as additionally reporting variants of uncertain or unknown significance. Participant's choice and demographics were collected by survey before chorionic villus sampling or amniocentesis; psychological data were also collected then and again about 10 days after receiving results...
February 6, 2018: European Journal of Human Genetics: EJHG
Ronit Machtinger, Jia Zhong, Abdallah Mansur, Michal Adir, Catherine Racowsky, Russ Hauser, Kasey Brennan, Oskar Karlsson, Andrea A Baccarelli
Phthalates are endocrine disrupting chemicals (EDCs) that can cross the placenta and affect the fetal epigenome. Among various epigenetic regulators of gene expression, long non-coding RNAs (lncRNAs) are important players that may also be involved in the manifestation of EDC toxicity. We sought to explore the association between maternal urinary phthalate metabolite concentrations and lncRNA expression in human placenta to better understand potential mechanisms through which lncRNAs participate in mediating phthalate toxicity...
January 29, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
Mei-Juan Xie, Zhi-Kun Liang, Dan He, Wei-Wen Xu, Ying-Song Wu, Xue-Xi Yang, Ming Li
Rare autosomal aneuploidies (RAAs) can cause miscarriage or other pregnancy complications and lead to inconsistent results of noninvasive prenatal testing (NIPT), but many NIPT providers have not yet started to provide related services. Our aim was to develop a semiconductor sequencing platform (SSP)-based method for detecting RAAs when pregnant women performed NIPT. Fifty-three aneuploidy samples with verified karyotyping or array comparative genomic hybridization (aCGH) results were collected and subjected to RAAs detection using an SSP to develop a method by genomic sequencing...
January 30, 2018: DNA and Cell Biology
Linbei Deng, Sau Wai Cheung, Eric S Schmitt, Shiyi Xiong, Meizhen Yuan, Zhonghai Chen, Lei Chen, Luming Sun
BACKGROUND: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations...
January 23, 2018: Birth Defects Research
Carina Mallard, Marie-Eve Tremblay, Zinaida S Vexler
Microglial cells are now recognized as the "gate-keepers" of healthy brain microenvironment with their disrupted functions adversely affecting neurovascular integrity, neuronal homeostasis, and network connectivity. The perception that these cells are purely toxic under neurodegenerative conditions has been challenged by a continuously-increasing understanding of their complexity, the existence of a broad array of microglial phenotypes, and their ability to rapidly change in a context-dependent manner to attenuate or exacerbate injuries of different nature...
January 15, 2018: Neuroscience
Alexandre A Lussier, Alexander M Morin, Julia L MacIsaac, Jenny Salmon, Joanne Weinberg, James N Reynolds, Paul Pavlidis, Albert E Chudley, Michael S Kobor
Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD...
2018: Clinical Epigenetics
Susanne E Stalman, Nita Solanky, Miho Ishida, Cristina Alemán-Charlet, Sayeda Abu-Amero, Marielle Alders, Lucas Alvizi, William Baird, Charalambos Demetriou, Peter Henneman, Chela James, Lia C Knegt, Lydia J Leon, Marcel M A M Mannens, Adi N Mul, Nicole A Nibbering, Emma Peskett, Faisal I Rezwan, Carrie Ris-Stalpers, Joris A M van der Post, Gerdine A Kamp, Frans B Plötz, Jan M Wit, Philip Stanier, Gudrun E Moore, Raoul C Hennekam
Context: Small for gestational age (SGA) can be a result of fetal growth restriction, associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective: The aim of the present study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more CNVs and disturbed methylation and sequence variants may be present in genes known to be associated with fetal growth...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity 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
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present fetoplacental cytogenetic discrepancy in a pregnancy with prenatally detected mosaic tetrasomy 12p by amniocentesis. CASE REPORT: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XX,+i(12)(p10)[7]/46,XX[16]. Array comparative genomic hybridization (aCGH) analysis of the DNA extracted from cultured amniocytes revealed arr (12p)×3, (X)×2...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Chih-Heng Hsieh, 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 an interstitial deletion of 18q12.1-q12.3. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q12.1q12.3). The fetal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) using uncultured amniocytes revealed a 10...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
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