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"Trisomy 18"

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https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#1
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28192554/using-patient-centered-care-after-a-prenatal-diagnosis-of-trisomy-18-or-trisomy-13-a-review
#2
Shelly Haug, Mitchell Goldstein, Denise Cummins, Elba Fayard, T Allen Merritt
Importance: Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants...
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28185147/incompatible-with-care-examining-trisomy-18-medical-discourse-and-families-counter-discourse-for-recuperative-ethos
#3
Megan J Thorvilson, Adam J Copeland
Parents whose child is diagnosed with a serious disease such as trisomy 18 first rely on the medical community for an accurate description and prognosis. In the case of trisomy 18, however, many families are told the disease is "incompatible with life" even though some children with the condition live for several years. This paper considers parents' response to current medical discourse concerning trisomy 18 by examining blogs written by the parents of those diagnosed. Using interpretive humanistic reading and foregrounding Cathryn Molloy's recuperative ethos theory (2015), we find that parents demonstrate recuperative ethos in response to physicians' descriptions of trisomy 18, particularly in rhetoric addressing survival, medicalized language, and religious and/or spiritual rhetoric...
February 10, 2017: Journal of Medical Humanities
https://www.readbyqxmd.com/read/28164510/the-status-of-quality-control-investigation-and-analysis-for-maternal-serum-marker-of-prenatal-screening-laboratories-in-china
#4
Falin He, Wei Wang, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. METHODS: Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD)...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28056858/the-impact-of-national-prenatal-screening-on-the-time-of-diagnosis-and-outcome-of-pregnancies-affected-with-common-trisomies-a-cohort-study-in-the-northern-netherlands
#5
Katelijne Bouman, Marian K Bakker, Erwin Birnie, Lies Ter Beek, Caterina M Bilardo, Irene M van Langen, Hermien E K de Walle
BACKGROUND: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). METHODS: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy cases born between 2005 and 2012. Screening tests and invasive procedures, timing of diagnosis and pregnancy outcome were compared between the period before (2005-2006) and after introduction (2007-2012) using X (2) tests...
January 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28041665/should-extracorporeal-membrane-oxygenation-be-offered-an-international-survey
#6
Kevin W Kuo, Ryan P Barbaro, Samir K Gadepalli, Matthew M Davis, Robert H Bartlett, Folafoluwa O Odetola
OBJECTIVES: To assess the current attitudes of extracorporeal membrane oxygenation (ECMO) program directors regarding eligibility for ECMO among children with cardiopulmonary failure. STUDY DESIGN: Electronic cross-sectional survey of ECMO program directors at ECMO centers worldwide within the Extracorporeal Life Support Organization directory (October 2015-December 2015). RESULTS: Of 733 eligible respondents, 226 (31%) completed the survey, 65% of whom routinely cared for pediatric patients...
December 30, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/28040147/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-18-associated-with-a-favorable-fetal-outcome
#7
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
No abstract text is available yet for this article.
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27987078/heterogeneous-diagnoses-underlying-radial-ray-anomalies
#8
Rosalba Sevilla-Montoya, Mónica Aguinaga, Alejandro Martínez, Guadalupe Razo, Bertha Molina, Sara Frías, Patricia Grether
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy...
December 17, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27981672/performance-evaluation-of-the-neobona-test-a-new-paired-end-massive-parallel-shotgun-sequencing-approach-for-cfdna-based-aneuploidy-screening
#9
Vincenzo Cirigliano, Elena Ordoñez, Laura Rueda, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To assess the performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using a new method based on paired-end massive parallel shotgun sequencing (MPSS). METHODS: Blind study of 1000 plasma samples (1 mL) obtained from women undergoing screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation. The study included 50 cases with confirmed fetal trisomy 21, 30 with trisomy 18, 10 with trisomy 13 and 910 unaffected pregnancies...
December 15, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#10
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27889224/fetal-megacystis-a-systematic-review
#11
REVIEW
K Taghavi, C Sharpe, M D Stringer
: Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and outcomes. This yielded a total of 18 primary references and eight secondary references. Fetal megacystis has an estimated first-trimester prevalence of between 1:330 and 1:1670, with a male to female ratio of 8:1. In the first trimester, megacystis is most commonly defined as a longitudinal bladder dimension of ≥7 mm...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27818252/associated-anomalies-in-cases-with-anotia-and-microtia
#12
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Infants with anotia and microtia (AM) often have other non-AM 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 infants with AM 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. Of the 146 cases with AM registered during this period, representing a prevalence of 3...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27816335/developmental-changes-in-aortic-mechanical-properties-in-normal-fetuses-and-fetuses-with-cardiovascular-disease
#13
Mio Taketazu, Masaya Sugimoto, Hirofumi Saiki, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
BACKGROUND: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development. METHODS: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks)...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27760457/factors-affecting-parental-decisions-to-terminate-pregnancy-in-the-presence-of-chromosome-abnormalities-a-japanese-multicenter-study
#14
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27739366/clinical-experience-of-non-invasive-prenatal-chromosomal-aneuploidy-testing-in-190-277-patient-samples
#15
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing on average...
2016: Current Molecular Medicine
https://www.readbyqxmd.com/read/27694391/using-targeted-sequencing-of-paralogous-sequences-for-noninvasive-detection-of-selected-fetal-aneuploidies
#16
Christopher K Ellison, Youting Sun, Grant Hogg, Jesse Fox, Helen Tao, Erin McCarthy, Bright Sagoe, Mostafa A Azab, Amin R Mazloom, John Tynan, Timothy Burcham, Sung K Kim, Dirk van den Boom, Mathias Ehrich, Taylor J Jensen
BACKGROUND: Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed a NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma...
December 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27686549/-the-study-of-relationship-between-fetal-radius-loss-and-chromosomal-abnormality
#17
R Q Yang, Z Y Liu, J Hu, Y Nan, L M Fan
Objective: To explore the relationship between fetal radius loss and chromosomal abnormalities. Methods: Collect data of 3 100 cases pregnant women who had been checked in the second hospital of Jilin University from 2012 to 2015.There were 8 cases of absent radius, except 1 case of fetal lost follow-up, the remaining 7 cases had complete ultrasound, chromosome examination and the result of induction.The relationship between fetal radius loss and chromosomal abnormalities were analysed. Results: There were 1 case of 21 trisomy syndrome, 1 case of trisomy 13 syndrome, 2 cases of trisomy 18, 2 cases of chromosome translocation, 1 case of normal chromosome result and 1 case was lost to follow-up of the 8 absent radius fetuses...
September 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27668198/screening-for-chromosomal-abnormalities-using-combined-test-in-the-first-trimester-of-pregnancy
#18
Soo Yeon Park, In Ae Jang, Min Ah Lee, Young Ju Kim, Sun Hee Chun, Mi Hye Park
OBJECTIVE: This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital. METHODS: All women admitted for routine antenatal care between January 1st 2008 and December 31st 2012 with a known pregnancy outcome were included in this study, totaling 1,156 women with singleton pregnancies presenting at 10 to 13 weeks of gestation. Women were offered screening using a combination of maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and fetal nuchal translucency thickness...
September 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27643592/perspectives-on-the-care-and-advances-in-the-management-of-children-with-trisomy-13-and-18
#19
John C Carey, Tomoki Kosho
The trisomy 13 and trisomy 18 syndromes are important and relatively common chromosome conditions each consisting of a recognizable pattern of multiple congenital anomalies, an increased neonatal and infant mortality, and a marked cognitive and motor disability in older children. Because of the medically serious nature of the outcomes, the traditional approach to management in the newborn and early infancy periods has been to withhold technological support and surgery. In the last decade a rich dialogue has emerged in the literature; one view makes the case for pure comfort care for the benefit of the child while the other view supports full intervention in appropriate situations...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27636887/dna-genotyping-of-suspected-partial-hydatidiform-moles-detects-clinically-significant-aneuploidy
#20
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
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