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Trisomy 13

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https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#1
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#2
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#3
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28514881/trisomy-13-and-the-risk-of-gestational-hypertensive-disorders-a-population-based-study
#4
Sarah K Dotters-Katz, Whitney M Humphrey, Kayli L Senz, Vanessa R Lee, Brian L Shaffer, Jeffrey A Kuller, Aaron B Caughey
PURPOSE: To describe the rate and severity of gestational hypertensive disorders (GHD) in pregnancies complicated by trisomy 13 (T13). MATERIALS AND METHODS: Retrospective cohort study of singleton deliveries in California from 2005-2008 using vital statistics and ICD-9 data. We were interested in gestational hypertension (gHTN), preeclampsia with and without severe features (sPREX and PREX), and gestational age at delivery. Pregnancies and maternal complications affected by prenatally diagnosed T13 were compared to unaffected pregnancies...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28511174/noninvasive-prenatal-detection-of-trisomy-21-by-targeted-semiconductor-sequencing-a-technical-feasibility-study
#5
Yanwei Xi, Aryan Arbabi, Amy J M McNaughton, Alison Hamilton, Danna Hull, Helene Perras, Tillie Chiu, Shawna Morrison, Claire Goldsmith, Emilie Creede, Gregory J Anger, Christina Honeywell, Mireille Cloutier, Natasha Macchio, Courtney Kiss, Xudong Liu, Susan Crocker, Gregory A Davies, Michael Brudno, Christine M Armour
OBJECTIVE: To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. METHODS: A customized AmpliSeq panel was designed with 1,067 primer pairs targeting specific regions on chromosomes 21, 18, 13, and others. A total of 235 samples, including 30 affected with T21, were sequenced with an Ion Torrent Proton sequencer, and a method was developed for assessing the probability of fetal aneuploidy via derivation of a risk score...
May 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28499441/chromosomal-abnormalities-subgroup-analysis-by-maternal-age-and-perinatal-features-in-zhejiang-province-of-china-2011-2015
#6
Xiao-Hui Zhang, Li-Qian Qiu, Ying-Hui Ye, Jian Xu
BACKGROUND: Recently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features. METHODS: A retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed...
May 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#7
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28493447/the-outcomes-and-prognostic-factors-of-fetal-hydrothorax-associated-with-trisomy-21
#8
Yasuo Yumoto, Seung Chik Jwa, Seiji Wada, Yuichiro Takahashi, Keisuke Ishii, Kiyoko Kato, Noriaki Usui, Haruhiko Sago
OBJECTIVES: To determine the characteristics, outcomes and prognostic factors of fetal hydrothorax (FHT) with trisomy 21. METHODS: A nationwide survey was conducted on FHT fetuses with trisomy 21 delivered after 22 weeks' gestation between January 2007 and December 2011 at perinatal centers. RESULTS: The 91 cases of FHT with trisomy 21 included 28 (30.8%) diagnosed in utero and 63 (69.2%) diagnosed after birth. The natural remission rate was 6...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28488311/left-ventricular-noncompaction-cardiomyopathy-in-a-patient-with-trisomy-13-a-report-and-review-of-the-literature
#9
Anri Hayashi, Tomohiro Kumada, Fumihito Nozaki, Ikuko Hiejima, Minoru Shibata, Takashi Kusunoki, Tatsuya Fujii
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28486223/novel-unbalanced-translocations-affecting-the-long-arms-of-chromosomes-10-and-22-cause-complex-syndromes-with-very-severe-neurodevelopmental-delay-speech-impairment-autistic-behavior-and-epilepsy
#10
Emanuele G Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lücke, Thomas Liehr
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth...
May 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28485265/massively-parallel-sequencing-mps-of-cell-free-fetal-dna-cffdna-for-trisomies-21-18-and-13-in-twin-pregnancies
#11
Erqiu Du, Chun Feng, Yuming Cao, Yanru Yao, Jing Lu, Yuanzhen Zhang
Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton pregnancies. This study assessed the performance of MPS testing of cell-free fetal DNA (cffDNA) from maternal plasma for trisomies 21, 18, and 13 in twin pregnancies. Ninety-two women with twin pregnancies were recruited. The results were identified through karyotypes of amniocentesis or clinical examination and follow-up of the neonates. Fluorescent in-situ hybridization was used to examine the placentas postnatally in cases of false-positive results...
May 9, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28480529/acne-conglobata-in-a-long-term-survivor-with-trisomy-13-accompanied-by-selective-igm-deficiency
#12
Chiyoko N Inoue, Yoshiko Tanaka, Nobuko Tabata
Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Serum IgM levels were extremely low at 10 mg/dl. There were no abnormalities in neutrophil and total B cell number, or in serum IgA and IgG levels...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28463390/sfog-ger-nationella-riktlinjer-f%C3%A3-r-fosterdiagnostik-med-nipt-information-genetisk-v%C3%A3-gledning-och-informerat-val-grunden-f%C3%A3-r-analys-av-foster-dna-i-blodprov-fr%C3%A3-n-kvinnan
#13
Charlotta Ingvoldstad Malmgren, Erik Iwarsson, Niklas Juth, Peter Lindgren
NIPT - implentation, counselling and ethical issues It is today possible to analyze cell-free fetal DNA from a blood sample from the pregnant woman, i.e. non-invasive prenatal testing, NIPT. Thus, by a simple blood test from the mother you can detect trisomy 13, 18 and 21 in the fetus with high accuracy. However, NIPT is not a diagnostic test and a positive result should be confirmed by an invasive test, like chorionic villus sampling or amniocentesis. There are national guidelines from the Swedish Society of Obstetrics and Gynaecology (SFOG) on how to implement and use NIPT for trisomies in the Swedish health care...
May 2, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28457107/congenital-absence-of-salivary-glands-in-fetuses-with-trisomy-21
#14
Marwan Odeh, Moshe Bronshtein, Jacob Bornstein
BACKGROUND: The congenital absence of salivary glands has been reported in children but never in fetuses with trisomy 21. OBJECTIVES: To determine whether the congenital absence of salivary glands can be detected prenatally between 13 and 16 weeks of gestation in normal and trisomy 21 fetuses using transvaginal ultrasound. METHODS: We performed a retrospective analysis of recordings of normal and trisomy 21 fetuses. Inclusion criteria were a single viable fetus and good visualization of the anatomic area of the salivary glands on both sides of the fetal face...
January 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28457106/detection-rate-and-sonographic-signs-of-trisomy-21-fetuses-at-14-17-weeks-of-gestation
#15
Eliezer Bronshtein, Ido Solt, Moshe Bronshtein, Ayala Gover, Igal Wolman, Zeev Blumenfeld
BACKGROUND: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. OBJECTIVES: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. METHODS: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa)...
January 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28456396/long-term-outcomes-of-children-with-trisomy-13-and-18-after-congenital-heart-disease-interventions
#16
Jennifer K Peterson, Lazaros K Kochilas, Kirsti G Catton, James H Moller, Shaun P Setty
BACKGROUND: The purpose of this study is to report short- and long-term outcomes after congenital heart defect (CHD) interventions in patients with trisomy 13 or 18. METHODS: A retrospective review of the Pediatric Cardiac Care Consortium (PCCC) identified children with trisomy 13 or 18 with interventions for CHD between 1982 and 2008. Long-term survival and cause of death were obtained through linkage with the National Death Index. RESULTS: A total of 50 patients with trisomy 13 and 121 patients with trisomy 18 were enrolled in PCCC between 1982 and 2008; among them 29 patients with trisomy 13 and 69 patients with trisomy 18 underwent intervention for CHD...
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28453864/impact-on-spina-bifida-screening-of-shifting-prenatal-down-syndrome-maternal-serum-screening-from-the-second-trimester-to-the-first
#17
Emmanuel Spaggiari, Sophie Dreux, Julien J Stirnemann, Isabelle Czerkiewicz, Véronique Houfflin-Debarge, Alexandra Segonne, Jean-Marie Jouannic, Yves Ville, Francoise Muller
OBJECTIVES: Shifting screening for trisomy 21 to the first trimester has resulted in the loss of MSAFP screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. STUDY DESIGN: We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and "not performed")...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453807/attrition-in-patients-with-single-ventricle-and-trisomy-21-outcomes-after-a-total-cavopulmonary-connection
#18
Anastasios C Polimenakos, Sujata Subramanian, Chawki ElZein, Michel N Ilbawi
OBJECTIVES: Data are limited regarding the management of children with trisomy 21 (T21) syndrome and a functional single ventricle (FSV). We evaluated patients with T21 and a FSV who had a total cavopulmonary connection (TCPC). METHODS: From September 1999 to August 2012, 139 patients with a FSV underwent a TCPC. Sixty-five had unbalanced atrioventricular septal defect. Thirteen had T21. Three (of 13) had heterotaxy syndrome. The mean age at the Fontan operation was 27...
May 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#19
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28445808/treatment-results-in-children-with-myeloid-leukemia-of-down-syndrome-in-saudi-arabia-a-multicenter-saphos-leukemia-group-study
#20
Wasil Jastaniah, Abdulrahman Alsultan, Saad Al Daama, Walid Ballourah, Mohammad Bayoumy, Faisal Al-Anzi, Omar Al Shareef, Mohammed Burhan Abrar, Reem Al Sudairy, Ibrahim Al Ghemlas
Despite the high incidence of Down syndrome (DS) in Arab countires, the incidence and outcomes of myeloid leukemia of DS (ML-DS) have not been studied. We evaluated 206 pediatric acute myeloid leukemia (AML) patients diagnosed between 2005 and 2012 and identified 31 (15%) ML-DS. The incidence of ML-DS was 48 per 100,000 compared to 0.6 per 100,000 for AML in non-DS children. Thus, patients with DS had 80-fold increased risk of ML-DS compared to AML in non-DS children. The median age at diagnosis was 1.8 years, male/female ratio was 1...
April 12, 2017: Leukemia Research
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