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Trisomy 18

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https://www.readbyqxmd.com/read/28646728/evaluation-of-the-impact-of-vasa-previa-on-feto-placental-hormonal-synthesis-and-fetal-growth
#1
Yaakov Melcer, Ron Maymon, Marina Pekar-Zlotin, Orna Levinsohn-Tavor, Josef Tovbin, Eric Jauniaux
INTRODUCTION: A vasa previa (VP) refers to aberrant chorionic vessels which can either connect the chorionic plate to a velamentous cord (type I) or a succenturiate or accessory lobe to the main placental mass (type II). METHODS: We performed retrospective cohort study of 32 singleton pregnancies diagnosed with VP. The levels of maternal serum alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) were measured at 15-18 weeks as part of the triple test screening for Trisomy 21...
June 16, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28641631/-characteristics-and-prognostic-significance-of-cytogenetic-abnormalities-in-diffuse-large-b-cell-lymphoma-patients-with-bone-marrow-involvement
#2
Wei Liu, Rui Lyu, Wen-Yang Huang, Cheng-Wen Li, Hong Liu, Jian Li, De-Hui Zou, Lu-Gui Qiu, Shu-Hua Yi
OBJECTIVE: To investigate the cytogenetic abnormalitis in patients with diffuse large B-cell lymphoma(DLBCL) patients with bone marrow involvement and their influence on prognosis. METHODS: Conventional karyotyping was performed on bone marrow specimens in 47 DLBCL patients with histologically confirmed bone marrow involvement(BMI). The karyotyping results of bone marrow, the characteristics and clinical effect of chromosomal abnormalities were analysed. RESULTS: In 47 DLBCL cases with BMI, the chromosomal abnormalities were detected in 25(53%) cases...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#3
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28640401/two-stage-approach-for-risk-estimation-of-fetal-trisomy-21-and-other-aneuploidies-using-computational-intelligence-systems
#4
A C Neocleous, A Syngelaki, K H Nicolaides, C N Schizas
OBJECTIVE: To estimate the risk for fetal trisomy 21 (T21) and other chromosomal abnormalities at 11-13 week's gestation using computational intelligence classification methods. METHODS: As a first step, we train the artificial neural networks with 72054 euploid pregnancies, 295 cases of T21 and 305 of other chromosomal abnormalities (OCA). Then, we sort the cases into two categories of "no-risk" and "risk". The cases of "no-risk" are no further examined, while the cases with "risk" are forwarded in Stage 2 for further examination where we classify them in three types of risk, namely "no-risk", "moderate-risk" and "high-risk"...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28638969/introduction-childhood-and-disability
#5
EDITORIAL
Erica K Salter
From growth attenuation therapy for severely developmentally disabled children to the post-natal management of infants with trisomy 13 and 18, pediatric treatment decisions regularly involve assessments of the probability and severity of a child's disability. Because these decisions are almost always made by surrogate decision-makers (parents and caregivers) and because these decision-makers must often make decisions based on both prognostic guesses and potentially biased quality of life judgments, they are among the most ethically complex in pediatric care...
June 21, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28638671/prenatal-diagnosis-of-atrioventricular-block-and-qt-interval-prolongation-by-fetal-magnetocardiography-in-a-fetus-with-trisomy-18-and-scn5a-r1193q-variant
#6
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome
We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28636094/characterization-of-clonal-philadelphia-negative-cytogenetic-abnormalities-in-a-large-cohort-of-chronic-myeloid-leukemia
#7
Xiangjun Chen, Jine Zheng, Kaiwei Liang, Yanli He, Wen Du, Juan Li, Wei Liu, Yanjie Hu, Junxia Yao
OBJECTIVES: Clonal Philadelphia-negative Cytogenetic Abnormalities (CPCA) have been reported in chronic myeloid leukaemia (CML) patients treated with either interferon or tyrosine kinase inhibitor (TKI). However, the incidences and types of these cytogenetic abnormalities after treatment vary due to the limited populations enrolled. METHODS: We analysed the frequency and types of CPCA in a cohort of 607 CML patients in the chronic phase after TKI treatment. We also followed up these CPCA with a median of 31...
June 21, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28629247/obstetric-practice-patterns-in-pregnancies-complicated-by-fetal-trisomy-13-or-18
#8
Sarah K Dotters-Katz, Marcela C Smid, Cora Mcelwain, Jeffrey A Kuller, Jay Schulkin
PURPOSE: Describe practice patterns among obstetrician/gynecologists (OB/GYNs) when caring for women with pregnancy complicated by fetal trisomy 13(T13) or 18(T18), and compare these between maternal-fetal-medicine (MFM) and non-MFM providers. MATERIALS AND METHODS: We conducted an electronic survey using the American College of Obstetricians and Gynecologists database. Using simple statistics, we describe demographics and practice patterns among respondents, and compare those of MFM practitioners with non-MFM providers...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28627098/effect-of-concomitant-birth-defects-and-genetic-anomalies-on-infant-mortality-in-tetralogy-of-fallot
#9
Eric G Jernigan, Paula D Strassle, Rebecca C Stebbins, Robert E Meyer, Jennifer S Nelson
BACKGROUND: A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. METHODS: Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies...
June 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#10
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#11
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28608970/effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years
#12
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
OBJECTIVE: To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies. METHODS: The present observational study examined data from genetic counseling sessions performed at the 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary, between September 1, 2013, and September 1, 2015, and retrieved data on patients of advanced maternal age (≥35 years) who had fetal trisomy 21, 18, or 13 confirmed...
June 13, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28608362/chromosomal-microarray-as-a-primary-diagnostic-genomic-tool-for-pregnancies-defined-as-being-at-increased-risk-within-a-population-based-combined-first-trimester-screening-program
#13
Ida Vogel, Olav Bjørn Petersen, Rikke Christensen, Jon Hyett, Stina Lou, Else Marie Vestergaard
OBJECTIVE: To evaluate the impact of using high-resolution chromosomal microarray (CMA) as the standard diagnostic approach to examine for genomic imbalances in pregnancies with increased risk (≥1 in 300) defined through combined first trimester screening (cFTS). METHODS: A cohort of 575 consecutive pregnancies that had cFTS risk ≥1:300 through a publicly funded population based screening program in the Central and Northern Regions of Denmark between September 2015 and September 2016...
June 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#14
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604574/use-of-extracorporeal-membrane-oxygenation-and-mortality-in-pediatric-cardiac-surgery-patients-with-genetic-conditions-a-multicenter-analysis
#15
Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton
OBJECTIVE: Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater. DESIGN: Retrospective cohort study. SETTING: Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014...
June 9, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28603073/rapid-prenatal-diagnosis-of-aneuploidy-for-chromosomes-21-18-13-x-and-y-using-segmental-duplication-quantitative-fluorescent-pcr-sd-qf-pcr
#16
Lei Sun, Zuqian Fan, Ju Long, Xunjin Weng, Weijun Tang, Wanrong Pang
BACKGROUND: In our previous studies, the rapid diagnosis of aneuploidy has been achieved using the segmental duplication molecular markers-based SD-QF-PCR technique. However, it is also insufficient due to the drawbacks including less detection loci and incompetence in single-tube detection. METHODS: In this paper, we developed 13 new segmental duplications as molecular markers, as well as designed 13 pairs of primers and 1 fluorescence-labeled universal primer, which could detect chromosome aneuploidies in one PCR tube...
June 9, 2017: Gene
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#17
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28595435/a-fetal-diagnostic-center-s-referral-rate-for-perinatal-palliative-care
#18
Krishelle L Marc-Aurele, Andrew D Hull, Marilyn C Jones, Dolores H Pretorius
BACKGROUND: Fetal specialists support standardizing the practice of offering women palliative care for life limiting fetal diagnoses. However, there is little data available regarding what fetal specialists do in practice. Since 2003, our center has kept a database of all women referred for fetal complications. METHODS: Retrospective electronic chart review of pregnant women between 2006 and 2012 using UCSD's Fetal Care and Genetics Center referral database. Objectives were to determine: (I) how many high risk pregnancies referred to the University of California San Diego Medical Center (UCSD) over a 6-year period have potentially life limiting fetal diagnoses; (II) pregnancy outcome; and (III) referral rate to perinatal palliative care...
May 4, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/28586143/current-status-of-non-invasive-prenatal-testing-in-japan
#19
Osamu Samura, Akihiko Sekizawa, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazuhisa Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Yasuhiro Kido, Toshiyuki Fukao, Norio Miharu, Takeshi Nagamatsu, Atsushi Watanabe, Naoki Hamajima, Masaya Hirose, Ayako Sanui, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
AIM: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. METHODS: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses...
June 6, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#20
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
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