NDLI: Natural history of fetal trisomy 13 after prenatal diagnosis.

Please wait, while we are loading the content...

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2015 Volume: 167A

Year: 2015 Volume: 167A Issue: 12

Year: 2015 Volume: 167A Issue: 11

Year: 2015 Volume: 167A Issue: 10

Year: 2015 Volume: 167A Issue: 9

Year: 2015 Volume: 167A Issue: 8

Year: 2015 Volume: 167A Issue: 5

Year: 2015 Volume: 167A Issue: 4

Year: 2015 Volume: 167A Issue: 3

Year: 2015 Volume: 167A Issue: 2

Year: 2015 Volume: 167A Issue: 1

A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.

Echogenic: a poem.

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation?

Prader-Willi syndrome can be diagnosed prenatally.

Transposition of the great arteries in a neonate with Klinefelter syndrome-an incidental finding or a true association.

Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

Disease-specific growth charts for Korean infants with Prader-Willi syndrome.

Ring 18 molecular assessment and clinical consequences.

Natural history of fetal trisomy 13 after prenatal diagnosis.

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

Neuroblastoma in a 17-week fetus: a stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages.

Getting the heart into shape by the influence of cell death machinery.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate.

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.

International guidelines for the management and treatment of Morquio A syndrome.

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Is Tel Hashomer camptodactyly a distinct clinical entity?

Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia.

4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.

Myocardial fat overgrowth in Proteus syndrome.

Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder.

Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

Immune mediated disorders in women with a fragile X expansion and FXTAS.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.

Mosaicism for trisomy 21: a review.

Phenotypes of AKT3 deletion: a case report and literature review.

A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics.

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

A novel mutation in FGFR2.

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.

Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Geneticists offer recommendations for sharing unexpected consanguinity findings with parents: guidance on approaching counseling sessions, protecting child's best interests.

NIH policy supports broader sharing of genomic data, strengthens informed-consent rules: research participants must give consent for secondary sharing, even if data are de-identified.

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2013 Volume: 161A

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2010 Volume: 152A

Year: 2009 Volume: 149A

Year: 2008 Volume: 146A

Year: 2007 Volume: 143A

Year: 2006 Volume: 140

Year: 2005 Volume: 139

Year: 2005 Volume: 139A

Year: 2005 Volume: 138

Year: 2005 Volume: 138A

Year: 2005 Volume: 137A

Year: 2005 Volume: 137

Year: 2005 Volume: 136

Year: 2005 Volume: 135

Year: 2005 Volume: 134

Year: 2005 Volume: 134A

Year: 2005 Volume: 133A

Year: 2005 Volume: 132A

Year: 2004 Volume: 128A

Year: 2004 Volume: 124A

Year: 2003 Volume: 123A

Year: 2003 Volume: 121A

Year: 2003 Volume: 118A

Year: 2003 Volume: 116A

Natural history of fetal trisomy 13 after prenatal diagnosis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Barry, Sinead C. Walsh, Colin A. Burke, Annette L. McParland, Peter McAuliffe, Fionnuala M. Morrison, John J.
Description	Country affiliation: Ireland Author Affiliation: Barry SC ( Department of Obstetrics and Gynecology, Galway University Hospital, National University of Ireland Galway, Newcastle Road, Galway, Ireland.)
Abstract	There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis.
File Format	HTM / HTML
ISSN	15524825
Issue Number	1
Volume Number	167A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-01-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Disorders Diagnosis Prenatal Diagnosis Trisomy Chromosomes, Human, Pair 13 Female Fetus Gestational Age Humans Infant, Newborn Karyotyping Perinatal Death Pregnancy Ultrasonography, Prenatal Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in