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"Trisomy 13"

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https://www.readbyqxmd.com/read/28629247/obstetric-practice-patterns-in-pregnancies-complicated-by-fetal-trisomy-13-or-18
#1
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
#2
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/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#3
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
#4
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
#5
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/28595435/a-fetal-diagnostic-center-s-referral-rate-for-perinatal-palliative-care
#6
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/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#7
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28553771/the-first-trimester-combined-test-for-aneuploidies-a-single-center-experience
#8
Alina Veduta, Ana Maria Vayna, Simona Duta, Anca Panaitescu, Florin Popescu, Maria Bari, Gheorghe Peltecu, Florina Nedelea
PURPOSE: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center. METHODS: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown - rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A and free β-hCG in maternal serum...
May 28, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28550383/-you-can-carry-the-torch-now-a-qualitative-analysis-of-parents-experiences-caring-for-a-child-with-trisomy-13-or-18
#9
Joshua D Arthur, Divya Gupta
Trisomy 13 and 18 (T 13/18) are rare chromosomal abnormalities associated with high morbidity and mortality. Improved survival rates and increased prevalence of aggressive medical intervention have resulted in families and physicians holding different perspectives regarding the appropriate management of children with T 13/18. Families were invited for open-ended interviews regarding their experiences with the medical care of a child with T 13/18 over the past 5 years. Seven of 33 invited families were surveyed; those who had spent more than 40 days in the hospital were most likely to accept the invitation (OR 8...
May 26, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#10
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
#11
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/28514881/trisomy-13-and-the-risk-of-gestational-hypertensive-disorders-a-population-based-study
#12
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/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#13
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/28488311/left-ventricular-noncompaction-cardiomyopathy-in-a-patient-with-trisomy-13-a-report-and-review-of-the-literature
#14
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/28485265/massively-parallel-sequencing-mps-of-cell-free-fetal-dna-cffdna-for-trisomies-21-18-and-13-in-twin-pregnancies
#15
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...
June 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
#16
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
#17
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/28456396/long-term-outcomes-of-children-with-trisomy-13-and-18-after-congenital-heart-disease-interventions
#18
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/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/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#20
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
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