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"Trisomy 18"

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...
October 19, 2016: Prenatal Diagnosis
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 in average...
October 13, 2016: Current Molecular Medicine
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 an 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...
September 30, 2016: Clinical Chemistry
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]
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
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
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
A Kusztrich, D Hüseman, L Garten, H Neitzel, C Bührer
BACKGROUND: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life. METHODS: 30-year single-center retrospective chart analysis (1980-2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant's quality of life and talk about their experiences with medical staff. RESULTS: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved...
September 2016: Klinische Pädiatrie
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions...
December 2015: Journal of Pediatric Genetics
Leonardo I Valentin, Luis Perez, Prakash Masand
Very few reports exist in the literature regarding a possible association between trisomy 18 patients and the incidence of hepatoblastoma. Fewer reports exist on patients with multifocal hepatoblastoma. We reviewed our institutional database for the past 10 years and found three cases with this possible association to the tumor.
December 2015: Journal of Pediatric Genetics
Amy M Breman, Jennifer C Chow, Lance U'Ren, Elizabeth A Normand, Sadeem Qdaisat, Li Zhao, David M Henke, Rui Chen, Chad A Shaw, Laird Jackson, Yaping Yang, Liesbeth Vossaert, Rachel H V Needham, Elizabeth J Chang, Daniel Campton, Jeffrey L Werbin, Ron C Seubert, Ignatia B Van den Veyver, Jackie L Stilwell, Eric P Kaldjian, Arthur L Beaudet
OBJECTIVE: The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10-16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next-generation sequencing (NGS). METHOD: Nucleated cells from 30 mL of blood collected at 10-16 weeks' gestation were separated from red cells by density fractionation and then immunostained to identify cytokeratin positive and CD45 negative trophoblasts...
September 12, 2016: Prenatal Diagnosis
Jayne M MacMahon, Maureen J O'Sullivan, Michael McDermott, Feargal Quinn, Thomas Morris, Andrew J Green, David R Betts, Susan M O'Connell
Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed...
September 10, 2016: Hormone Research in Pædiatrics
Marcin Wiechec, Anna Knafel, Agnieszka Nocun, Artur Ludwin, Inga Ludwin, Marek Maczka, Damian Zietek, Marcin Pasternok, Dietmar Moosburger, Sebastian Zalewski, Wioletta Rozmus-Warcholinska
OBJECTIVES: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. METHODS: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening...
September 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
R McDonnell, C Monteith, M Kennelly, A Martin, D Betts, V Delany, S A Lynch, S Coulter-Smith, S Sheehan, R Mahony
BACKGROUND: Chromosomal trisomies are associated with advancing maternal age. In Ireland, information on the total prevalence and outcome of trisomy affected pregnancies is unavailable. This study aimed to ascertain more precise data on Trisomies 21, 18 and 13 in a large Irish region during the period 2011-2013. METHODS: Multiple information sources were used in case finding, including a regional congenital anomaly register, all maternity and paediatric hospitals in the region and the regional Department of Clinical Genetics...
September 2, 2016: Journal of Public Health
Srinivasan Muthuswamy, Sarita Agarwal
BACKGROUND: Aneuploidy screening is becoming an integral part of routine prenatal screening in developing countries like India, and the need for more cheaper and rapid aneuploidy testing methods are required to relive the anxiety and financial burden among the high-risk couples. Segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR) emerged as an alternative aneuploidy diagnostic method. METHODS: This study was conducted to optimize and access the utility of SD-QF-PCR in routine prenatal diagnosis to complement existing short tandem repeats (STR) based QF-PCR...
August 31, 2016: Journal of Clinical Laboratory Analysis
John C Carey, Ann M Barnes
No abstract text is available yet for this article.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Wei Liu, Suhui Qu, Mujun Wang, Wanju Xu, Guangying Zhang, Chengqi Zhang
OBJECTIVE: The aim of this study was to observe whether there existed significant differences in the maxilla-nasion-mandible angle (MNM) between the first- and second-trimester of pregnancy, and to observe its predictive values for trisomy 18. METHODS: Two experienced ultrasonologists used 2D and 3D ultrasound imaging techniques to obtain the facial sagittal sections of fetuses in the first-trimester of pregnancy (crown-rump length 45-84 mm), respectively, so as to measure MNM...
2016: SpringerPlus
Argyro Syngelaki, Leonardo Guerra, Irene Ceccacci, Tunay Efeturk, Kypros H Nicolaides
OBJECTIVE: To examine the prevalence of alobal holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥3.5 mm, the incidence and types of associated chromosomal abnormalities and the overall impact on the rate of invasive testing and performance of screening for chromosomal abnormalities of offering invasive testing for these four fetal conditions. METHODS: Prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test in three maternity units in England...
August 25, 2016: Ultrasound in Obstetrics & Gynecology
Sasha E Andrews, Ann G Downey, David Scott Showalter, Heather Fitzgerald, Vivian P Showalter, John C Carey, Peter Hulac
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during the prenatal, perinatal, and postnatal periods...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Annie Janvier, Barbara Farlow, Keith J Barrington
Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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