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Birth Defects associated with Trisomy 18

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By Victoria Miller Trisomy 18 Foundation
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
Jamile D Correia, Ernani B da Rosa, Daniélle B Silveira, Elisa P E Correia, Marina B Lorenzen, Giovanni M Travi, Rosana C M Rosa, Paulo R G Zen, Tatiana D Zen, Rafael F M Rosa
No abstract text is available yet for this article.
February 2017: American Journal of Medical Genetics. Part A
H-L Tan, D S Urquhart
Prader Willi syndrome, resulting from the partial deletion or lack of expression of a region of genes on the paternal chromosome 15, has a number of phenotypic features which predispose affected patients to ventilatory problems. These include generalised hypotonia, abnormal arousal and ventilatory responses to hypoxia and hypercapnia, scoliosis and frequently, obesity. The spectrum of the resulting respiratory complications thus runs from sleep disordered breathing, to aspiration and respiratory functional impairment...
March 2017: Paediatric Respiratory Reviews
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
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
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
Sarah K Dotters-Katz, Laura M Carlson, Jasmine Johnson, Jacquelyn Patterson, Matthew R Grace, Wayne Price, Catherine J Vladutiu, Tracy A Manuck, Robert A Strauss
Objective The objective of this study was to describe antenatal/intrapartum management and survival of liveborn infants with known trisomy 13 (T13) or trisomy 18 (T18) based on planned neonatal care. Study Design This is a retrospective cohort study of singleton pregnancies complicated by T13/T18 at a tertiary center from 2004 to 2015. We included pregnancies with antenatal or neonatal cytogenetic T13/T18 diagnosis and excluded those which were terminated or had a fetal demise < 20 weeks. We compared antenatal/intrapartum management and neonatal survival by planned neonatal care, defined as either neonatal intervention (INT), including neonatal cardiopulmonary resuscitative measures or comfort care (CC) without resuscitative measures...
October 2016: American Journal of Perinatology
Francesca M Russo, Elisa Pozzi, Maria Verderio, Davide P Bernasconi, Valentina Giardini, Carla Colombo, Silvia Maitz, Patrizia Vergani
Data on the outcome of trisomy T18 (T18) when diagnosed during pregnancy are lacking. We performed a retrospective study of pregnancies complicated by T18 diagnosed at our center and a literature search for publications on the topic, with pooled estimates of survival rates at different gestational and post-natal ages. In our series, all the 60 patients included in the analysis had prenatally detected ultrasound anomalies, which were evidenced in the first trimester or at the second trimester scan in 73% of cases...
February 2016: American Journal of Medical Genetics. Part A
Jennifer Marshall, Jason L Salemi, Jean Paul Tanner, Rema Ramakrishnan, Marcia L Feldkamp, Lisa K Marengo, Robert E Meyer, Charlotte M Druschel, Russel Rickard, Russell S Kirby
OBJECTIVE: To examine the trends in the prevalence, epidemiologic correlates, and 1-year survival of omphalocele using 1995-2005 data from the National Birth Defects Prevention Network in the United States. METHODS: We examined 2,308 cases of omphalocele over 11 years from 12 state population-based birth defects registries. We used Poisson regression to estimate prevalence and risk factors for omphalocele and Kaplan-Meier survival curves and Cox proportional hazards regression to estimate survival patterns and hazard ratios, respectively, to examine isolated compared with nonisolated cases...
August 2015: Obstetrics and Gynecology
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