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Trisomy 13

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https://www.readbyqxmd.com/read/28913147/summary-of-2185-prenatal-invasive-procedures-in-a-single-center-a-retrospective-analysis
#1
Hüseyin Çağlayan Özcan, Mete Gürol Uğur, Seyhun Sucu, Aynur Mustafa, Neslihan Bayramoğlu Tepe, Özcan Balat
OBJECTIVE: To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS: This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28913131/the-significance-of-reverse-flow-in-ductus-venosus-between-sixteen-and-twenty-weeks-gestation
#2
Gökhan Karakoç, And Yavuz, Serenat Eriş Yalçın, Mehmet Özgür Akkurt, Nuri Danışman
OBJECTIVE: To evaluate the correlation between reversed a-wave in ductus venosus at 16-20 weeks' gestation and trisomy 21 and adverse perinatal outcomes. MATERIALS AND METHODS: Our study included 174 pregnant women who were under follow-up at a tertiary center between May and September 2010. Ductus venosus Doppler (DVD) measurements were obtained throughout the 6-month period from women who underwent amniocentesis procedures due to increased risk for trisomy 21 in terms of first or second trimester screening test results...
March 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28899343/genome-wide-gene-expression-analysis-in-the-placenta-from-fetus-with-trisomy-21
#3
Ji Hyae Lim, You Jung Han, Hyun Jin Kim, Dong Wook Kwak, So Yeon Park, Sun-Hee Chun, Hyun Mee Ryu
BACKGROUND: We performed whole human genome expression analysis in placenta tissue (normal and T21) samples in order to investigate gene expression into the pathogenesis of trisomy 21 (T21) placenta. We profiled the whole human genome expression of placental samples from normal and T21 fetuses using the GeneChip Human Genome U133 plus 2.0 array. Based on these data, we predicted the functions of differentially expressed genes using bioinformatics tools. RESULTS: A total of 110 genes had different expression patterns in the T21 placentas than they did in the normal placentas...
September 12, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28894557/clinico-pathological-spectrum-and-novel-karyotypic-findings-in-myelodysplastic-syndrome-experience-of-tertiary-care-center-in-india
#4
Ruchi Gupta, Khaliqur Rahman, Manish Kumar Singh, Surabhi Kumari, Geeta Yadav, Soniya Nityanand
BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS: A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#5
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
September 7, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28887622/non-invasive-prenatal-testing-nipt-europe-s-first-multicenter-post-market-clinical-follow-up-study-validating-the-quality-in-clinical-routine
#6
Anne Flöck, Ngoc-Chi Tu, Anna Rüland, Wolfgang Holzgreve, Ulrich Gembruch, Annegret Geipel
PURPOSE: Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine. METHODS: The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome...
September 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28873375/non-invasive-prenatal-testing-for-sex-chromosome-aneuploidy-in-routine-clinical-practice
#7
Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies...
September 6, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#8
Xiaomei Shi, Lin Li, Xuan Huang, Baojiang Chen, Yi Zhou, Qun Fang
OBJECTIVE: To assess the clinical characteristics of fetal aneuploidy between dichorionic twins (DCT) and monochorionic twins (MCT) undergoing invasive prenatal diagnosis. METHODS: Twin fetuses undergoing invasive prenatal diagnosis were enrolled in this study. All twin fetuses were classified into 2 groups according to chorionicity. The rates of fetal aneuploidy in different groups were compared. RESULT: This study included 1,714 fetuses (857 sets of twin pairs); among them, 1,190 were DCT and 524 were MCT...
September 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#9
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28858551/the-anesthetic-management-for-a-patient-with-trisomy-13
#10
Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama
Trisomy 13 is a chromosomal disorder that occurs in complete or partial mosaic forms. It is characterized by central apnea, mental retardation, seizure and congenital heart disease. The survival of the patients with trisomy 13 is the majority dying before one month. Trisomy 13 is the worst life prognosis among all trisomy syndromes. It is reported the cause of death is central apnea. Special needs patients with mental retardation are recognized to have poorer oral health condition. Oral health related quality of life reflects daily activity and well-being...
2017: Anesthesia Progress
https://www.readbyqxmd.com/read/28856870/factors-related-to-home-health-care-transition-in-trisomy-13
#11
Yuma Kitase, Masahiro Hayakawa, Taiki Kondo, Akiko Saito, Takashi Tachibana, Makoto Oshiro, Kuniko Ieda, Eiko Kato, Yuichi Kato, Tetsuo Hattori, Seiji Hayashi, Masatoki Ito, Reina Hyodo, Yukako Muramatsu, Yoshiaki Sato
Trisomy 13 (T13) is accompanied by severe complications, and it can be challenging to achieve long-term survival without aggressive treatment. However, recently, some patients with T13 have been receiving home care. We conducted this study to investigate factors related to home health-care transition for patients with T13.We studied 28 patients with T13 born between January 2000 and December 2014. We retrospectively compared nine home care transition patients (the home care group) and 19 patients that died during hospitalization (the discharge at death group)...
August 29, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28855395/rare-autosomal-trisomies-revealed-by-maternal-plasma-dna-sequencing-suggest-increased-risk-of-feto-placental-disease
#12
Mark D Pertile, Meredith Halks-Miller, Nicola Flowers, Catalin Barbacioru, Sarah L Kinnings, Darcy Vavrek, William K Seltzer, Diana W Bianchi
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromosomes 21, 18, 13, X, and Y; sequencing results from other chromosomes may be masked. We hypothesized that by systematically analyzing WGS data from all chromosomes, we could identify rare autosomal trisomies (RATs) to improve understanding of feto-placental biology...
August 30, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28843273/fusion-anomaly-of-the-pancreatic-tail-and-spleen-a-case-report
#13
Ahmad Khalid Omeri, Shunro Matsumoto, Maki Kiyonaga, Ryo Takaji, Yasunari Yamada, Yumiko Ando, Hiromu Mori, Hiroki Uchida, Yukio Iwashita, Masayuki Ohta, Masafumi Inomata
BACKGROUND: Splenopancreatic fusion is a rare anomaly that is often associated with trisomy 13. Its diagnosis can be important in patients scheduled to undergo distal pancreatectomy or splenectomy, to avoid possible intraoperative or postoperative complications. CASE PRESENTATION: An 82-year-old Japanese man was referred to our hospital for further evaluation and treatment for a solitary hepatocellular carcinoma based on liver cirrhosis. Triple-phase contrast-enhanced multidetector-row computed tomography and magnetic resonance imaging showed a splenopancreatic fusion as well as a solitary hepatocellular carcinoma in segment VIII of his liver...
August 27, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28837243/clinical-accuracy-of-abnormal-cell-free-fetal-dna-cfdna-results-for-the-sex-chromosomes
#14
Emily W Scibetta, Stephanie G Valderramos, Rashmi R Rao, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SC). Study Design This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice, from March 2013 to July 2015. CfDNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. RESULTS: Of fifty abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex-discordant on US...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833712/cell-free-fetal-dna-analysis-in-maternal-plasma-as-a-screening-test-for-trisomy-21-18-and-13-in-twin-pregnancies
#15
Grégoire Le Conte, Alexandra Letourneau, Jacques Jani, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Alexandra Benachi
OBJECTIVES: To evaluate the utility of noninvasive prenatal testing using cell-free circulating fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies in twin pregnancies. METHODS: CfDNA testing was offered to 492 patients with twin pregnancies without ultrasound anomalies as a first-line screening test or after serum screening in clinical practice. Data were collected prospectively and a retrospective analysis was performed. CfDNA analysis was performed by massively parallel sequencing...
August 18, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28828329/next-generation-sequencing-and-karyotype-analysis-for-the-diagnosis-of-robertsonian-translocation-type-trisomy-13-a-case-report
#16
Jing Sha, Fumin Liu, Bei Zhang, Yang Huang, Qinglin Zhang, Gao Juan, Jingfang Zhai
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence of 1.23 in 1000 live birth and translocation 13;14 is one of the most frequent Robertsonian translocations (approximately 75%). We sampled umbilical vein blood from a 27-yr-old woman whose ultrasonography findings revealed congenital heart defects, single ventricle, polycystic kidney, median cleft lip and palate and holoprosencephaly at gestational age of 23+6 weeks for karyotype and sequencing during intra-amniotic cavity injection of acrinol for labor induction...
June 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28817202/perinatal-mortality-in-japanese-women-diagnosed-with-gestational-diabetes-mellitus-and-diabetes-mellitus
#17
Mamoru Morikawa, Takashi Sugiyama, Norimasa Sagawa, Yuji Hiramatsu, Hiroshi Ishikawa, Hiromi Hamada, Takashi Kameda, Emiko Hara, Shigeru Toda, Hisanori Minakami
AIMS: The objective of this study was to determine how many pregnant Japanese women with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal mortality in the presence of fetal anomalies. METHODS: Our investigation included data from 205 secondary/tertiary obstetric facilities located widely in Japan. The Japan Ministry of Health, Labour and Welfare Vital Statistics of Japan was used for comparison. RESULTS: Of 237 941 women giving birth at 205 hospitals, 1796 (0...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28804563/count-based-size-correction-analysis-of-maternal-plasma-dna-for-improved-noninvasive-prenatal-detection-of-fetal-trisomies-13-18-and-21
#18
Li Zhang, Qian Zhu, He Wang, Shanling Liu
PURPOSE: Our goal was to derive more sensitive and accurate Z-scores based on combined DNA count- and size-based algorithms to advance molecular diagnostics for noninvasive prenatal testing of fetal trisomies. METHODS: We included 180 cases at high risk for fetal aneuploidy who underwent amniotic fluid cytogenetic analysis. We calculated their traditional count-based Z-scores, as well as their 100-, 130- and 150-, and 166-bp size-corrected Z-scores, and determined each Z-score's reliability based on its comparison to the cases' cytogenetic results...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28777856/-clinical-and-laboratory-features-of-13-cases-of-myeloid-neoplasms-with-double-del-20q
#19
Shuxiao Bai, Chunxiao Wu, Jun Zhang, Suning Chen, Jinlan Pan
OBJECTIVE: To report on clinical and laboratory features of myeloid neoplasms with double del(20q). METHODS: Cytogenetic examination of bone marrow was performed on 13 cases of myeloid neophasms with double del(20q) after 24 hours of cell culture. R-banding was used to analyze the karyotypes. Interphase fluorescence in situ hybridization (FISH) was performed using dual-color probes for 20q11/20q12. RESULTS: Double del(20q) was found to be the sole abnormality in 9 cases, double del(20q) and trisomy 9 was found in 1 case, trisomy del(20q) was found in 1 case, and sole del(20q) clone and double del(20q) clone were found to coexist in 2 cases...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#20
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
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