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Bruce Budowle, Christina Capt, Ranajit Chakraborty, Jianye Ge
In a criminal paternity case, which involved analysis of the product of conception, a rare circumstance was observed. The product of conception was triploidy, apparently due to an egg fertilized by two sperm. Since there is little guidance on how to calculate the probability of the DNA evidence given some basic hypotheses, the formulae were derived and are presented herein. These approaches could provide guidance for similar situations if they arise.
October 18, 2016: International Journal of Legal Medicine
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
F F Coelho, F K Marques, M S Gonçalves, V C O Almeida, E C C Mateo, A C S Ferreira
Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and enable better genetic counseling for a future pregnancy. Quantitative fluorescent polymerase chain reaction (QF-PCR) has been previously used in the study of chromosomal abnormalities...
September 23, 2016: Genetics and Molecular Research: GMR
Ghayas C Issa, Hagop M Kantarjian, C Cameron Yin, Wei Qiao, Farhad Ravandi, Deborah Thomas, Nicholas J Short, Koji Sasaki, Guillermo Garcia-Manero, Tapan M Kadia, Jorge E Cortes, Naval Daver, Gautam Borthakur, Nitin Jain, Marina Konopleva, Issa Khouri, Partow Kebriaei, Richard E Champlin, Sherry Pierce, Susan M O'Brien, Elias Jabbour
BACKGROUND: The introduction of novel prognostic factors such as minimal residual disease (MRD) and genomic profiling has led to the reevaluation of the role of cytogenetics and other conventional factors in risk stratification for acute lymphoblastic leukemia (ALL). METHODS: This study assessed the impact of baseline cytogenetics on the outcomes of 428 adult patients with Philadelphia chromosome-negative ALL who were receiving frontline chemotherapy. Three hundred thirty patients (77%) were treated with hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone-based regimens, and 98 (23%) were treated with the augmented Berlin-Frankfurt-Munster regimen...
October 3, 2016: Cancer
Susan M Maxwell, Pere Colls, Brooke Hodes-Wertz, David H McCulloh, Caroline McCaffrey, Dagan Wells, Santiago Munné, James A Grifo
OBJECTIVE: To determine whether undetected aneuploidy contributes to pregnancy loss after transfer of euploid embryos that have undergone array comparative genomic hybridization (aCGH). DESIGN: Case-control study. SETTING: University-based fertility center. PATIENT(S): Cases included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in miscarriage. Controls included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in a live birth...
September 27, 2016: Fertility and Sterility
Shuang Jiao, Zhihao Wu, Xungang Tan, Yulei Sui, Lijuan Wang, Feng You
Although chromosome set manipulation techniques including polyploidy induction and gynogentic induction in flatfish are becoming increasingly mature, there exists a poor understanding of their effects on embryonic development. PAX3 plays crucial roles during embryonic myogenesis and neurogenesis. In olive flounder (Paralichthys olivaceus), there are two duplicated pax3 genes (pax3a, pax3b), and both of them are expressed in the brain and muscle regions with some subtle regional differences. We utilized pax3a and pax3b as indicators to preliminarily investigate whether chromosome set manipulation affects embryonic neurogenesis and myogenesis using whole-mount in situ hybridization...
September 27, 2016: Fish Physiology and Biochemistry
Terence J Colgan, Martin C Chang, Shabin Nanji, Elena Kolomietz
The diagnosis of partial hydatidiform mole (PM) is especially difficult early in gestation as the morphology of nonmolar abortus (NMA) may mimic PM. Molecular genotyping analysis can definitively identify diandric triploidy, the genetic basis for PM, whereas NMA cases show a biparental inheritance. This 4-year retrospective study sought to determine what proportion of NMA cases which were initially suspected as being PM was aneuploid, and whether this knowledge of aneuploidy status is clinically useful. Cases with atypical villous morphology on histopathology suggestive of PM were subjected to molecular genotyping...
September 15, 2016: International Journal of Gynecological Pathology
Yan Ouyang, Yueqiu Tan, Yan Yi, Fei Gong, Ge Lin, Xihong Li, Guangxiu Lu
STUDY QUESTION: Do early pregnancy losses (EPLs) with and without embryos differ in chromosomal distributions? SUMMARY ANSWER: The chromosomal abnormality rate is significantly higher in miscarriages with embryos than without after in vitro fertilization (IVF)-embryo transfer. WHAT IS KNOWN ALREADY: Chromosomal abnormalities are the main causes of EPLs, the rate of which is up to 24-30% in the IVF population. Little research has been conducted on the correlations between the chromosomal distributions of EPL and the existence of an embryo or with the postmortem embryonic pole length, and the existing results have been inconsistent...
October 2016: Human Reproduction
Malgorzata I Srebniak, Merel C de Wit, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Maarten F C M Knapen, Marnix J Bos, Gerda A G Looye-Bruinsma, Mieke Koningen, Attie T J I Go, Robert Jan H Galjaard, Diane Van Opstal
BACKGROUND: Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. METHOD: 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array...
2016: Molecular Cytogenetics
Danielius Serapinas, Daiva Bartkeviciene, Emilija Valantinaviciene, Egle Machtejeviene
The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants...
October 1, 2016: Archivos Argentinos de Pediatría
Michail I Gladyshev, Valentina S Artamonova, Alexander A Makhrov, Nadezhda N Sushchik, Galina S Kalachova, Yury Y Dgebuadze
Triploid fish has become an important item of commercial aquaculture, but data on its fatty acid (FA) composition are still controversial, especially regarding essential polyunsaturated fatty acids, eicosapentaenoic acid (20:5n-3, EPA) and docosahexaenoic acid (22:6n-3, DHA). We studied FA composition and content of diploid and triploid pink salmon Oncorhynchus gorbuscha, reared in aquaculture in a bay of the White Sea (Russia). FA composition, measured as percentages of total FA of triploids and immature diploid females significantly differed from that of mature diploid fish...
February 1, 2017: Food Chemistry
C A Waterman, P Batstone, N Bown, L Cresswell, C Delmege, C J English, G Fews, L Grimsley, S Imrie, A Kulkarni, K Mann, R Johnson, S M Morgan, P Roberts, I Simonic, S Trueman, M Wall, D McMullan
OBJECTIVE: To map the current testing being undertaken following pregnancy loss across the UK and to examine the clinical utility in terms of identifying a cause for the loss and in identifying couples at risk of an unbalanced liveborn child. DESIGN: Retrospective audit. SETTING: UK, for the year 2014. POPULATION: An audit of 6465 referrals for genetic testing of tissue samples following pregnancy loss. METHODS: Data were obtained by questionnaire from 15 UK regional genetics laboratories...
September 5, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Harald Abele, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Markus Hoopmann, Karl Oliver Kagan
OBJECTIVE: To examine the spheno-frontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare it with euploid population. METHODS: First, we searched the database for pregnancies with the diagnosis of trisomy 21, 18, 13, triploidy or Turner syndrome after 15 weeks' gestation. Whenever possible, we selected images that were obtained between 19 and 22 weeks. For the normal population, we randomly selected two euploid fetuses for each aneuploid case and matched them for gestational age...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
Hirokazu Usui, Takako Kiyokawa, Jia Qu, Kyoko Nishikimi, Shinichi Tate, Akira Mitsuhashi, Yukio Nakatani, Makio Shozu
OBJECTIVE: To elucidate the diagnostic accuracy of macroscopic and histopathological diagnoses of molar pregnancy as compared with cytogenetic diagnosis as the gold standard. STUDY DESIGN: Patients were recruited for the molecular diagnostic study of suspected molar pregnancy at Chiba University Hospital between 2007 and 2011. Gynecologists performed macroscopic diagnoses immediately after the evacuation. Pathological diagnoses were then made by pathologists in routine bases without performing p57Kip2 immunostaining...
May 2016: Journal of Reproductive Medicine
Niels Tørring
First trimester combined screening (cFTS) for foetal trisomy 21 has become an established method in many countries. The screening is based on a combination of maternal-age-related risk, ultrasound (nuchal translucency) and two maternal serum biochemical markers, free beta human chorionic gonadotropin (FbhCG) and pregnancy associated plasma protein A (PAPP-A). The concentrations of these biochemical markers are affected by several maternal and pregnancy factors, which are discussed herein. Improvements in the algorithm have extended the screening to include trisomy 21 in mono- and dichorionic twin pregnancies, trisomy 18, trisomy 13 and triploidy...
October 2016: Scandinavian Journal of Clinical and Laboratory Investigation
Kaveh Taghipoor, Saeed Keyvanshokooh, Amir Parviz Salati, Hossein Pasha-Zanoosi, Samad Bahrami Babaheydari
The objective of the present study was to examine the antioxidant status of rainbow trout (Oncorhynchus mykiss) during the early stages of development (fertilized egg, eyed egg, alevin and fry) as an effect of triploidy induction. Eggs and milt were taken from eight females and six males. After insemination, the eggs were incubated at 10°C for 10min. Half of the fertilized eggs were then subjected to heat-shock for 10min submerged in a 28°C water bath to induce triploidy. The remainder were incubated normally and used as diploid controls...
August 2016: Animal Reproduction Science
Rosa A Pardo Vargas, Mariana Aracena, Teresa Aravena, Carolina Cares, Fanny Cortés, Víctor Faundes, Cecilia Mellado, Cristóbal Passalacqua, Patricia Sanz, Silvia Castillo Taucher
INTRODUCTION: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. METHODOLOGY: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it...
May 24, 2016: Revista Chilena de Pediatría
K Wou, Y Hyun, D Chitayat, M Vlasschaert, K Chong, S Wasim, S Keating, P Shannon, E Kolomietz
OBJECTIVE: To evaluate the performance of a laboratory protocol for direct genetic analysis performed on tissues obtained from miscarriages, stillbirth and postnatal death. METHODS: Samples were collected between July 1st, 2011 and June 30th, 2014. QF-PCR analysis was the initial test followed by aCGH analysis performed on the normal QF-PCR specimens. RESULTS: Of the 1195 submitted specimens, a total of 1071 samples were confirmed as true fetal...
August 2016: European Journal of Medical Genetics
HuiMin Zhang, WeiQiang Liu, Min Chen, ZhiHua Li, XiaoFang Sun, ChenHong Wang
AIMS: To demonstrate the value of a whole-genome high-resolution single-nucleotide polymorphism (SNP) array for the elucidation of genetic causes underlying pregnancy loss. METHODS: The SNP array combined with SNPs and oligonucleotide probes was used to examine 60 samples of products of conception, including chorionic villi, fetal parts, and fetal blood. RESULTS: The SNP array yielded a 38.3% (23/60) abnormality rate. In addition to the most common aneuploidy, it detected 16...
July 2016: Genetic Testing and Molecular Biomarkers
Samad Bahrami Babaheydari, Saeed Keyvanshokooh, Salar Dorafshan, Seyed Ali Johari
A proteomic screening approach was employed to achieve a better understanding of the changes that occur in protein expression patterns associated with skeletal deformities in both diploid and triploid rainbow trout larvae. Triploidy was induced through the application of heat shock of 28°C for 10min to eggs 10-min post fertilization in an aquarium equipped with a heater. Percentage of skeletal deformity in heat-shocked larvae (2.88±0.30, mean±S.E.) was significantly (P<0.05) greater than that of the diploids (0...
September 2016: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
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