Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome

2013 ◽  
Vol 164 (2) ◽  
pp. 559-560 ◽  
Author(s):  
Rosilene da S. Betat ◽  
Jorge A. B. Telles ◽  
Amanda M. Gobatto ◽  
Anna M. de H. Bicca ◽  
Camila P. Arcolini ◽  
...  
Keyword(s):  
Edwards Syndrome ◽  
Ruptured Omphalocele

Postnatal ultrasound diagnosis of middle interhemispheric variant of holoprosencephaly in a newborn with Edwards syndrome

2019 ◽  
Author(s):  
M.V. Kubrina, T.N. Melnik
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Ultrasound Diagnosis ◽  
Resonance Imaging ◽  
Edwards Syndrome ◽  
Literary Sources

A case of postnatal ultrasound diagnosis the middle interhemispheric variant of holoprosencephaly in a newborn with Edwards syndrome is presented. The characteristic postnatal ultrasound signs of this variant of holoprosencephaly and signs of magnetic resonance imaging of this pathology according to literary sources are presented.

scholarly journals A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

2021 ◽  
Vol 11 (01) ◽  
pp. e41-e44
Author(s):  
Ravindran Ankathil ◽  
Foong Eva ◽  
Zulaikha Abu Bakar ◽  
Nazihah Mohd Yunus ◽  
Nurul Alia Nawi ◽  
...  
Keyword(s):  
Birth Weight ◽  
Blood Sample ◽  
Cell Line ◽  
Apgar Score ◽  
Cytogenetic Analysis ◽  
Rare Case ◽  
Trisomy 18 ◽  
Normal Female ◽  
Conventional Cytogenetic Analysis ◽  
Edwards Syndrome

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

scholarly journals P05.08: Prenatal diagnosis of triplet pregnancy discordant for Edwards syndrome

2006 ◽  
Vol 28 (4) ◽  
pp. 561-561
Author(s):  
D. F. Albu ◽  
C. Albu ◽  
E. Severin ◽  
A. Toma ◽  
M. Dumitrescu
Keyword(s):  
Prenatal Diagnosis ◽  
Triplet Pregnancy ◽  
Edwards Syndrome

Ocular Pathology in Trisomy 18 (Edwards’ Syndrome)

1986 ◽  
Vol 192 (3) ◽  
pp. 176-178 ◽  
Author(s):  
Jacob Pe’er ◽  
John T. Braun
Keyword(s):  
Trisomy 18 ◽  
Ocular Pathology ◽  
Edwards Syndrome

scholarly journals Amniotic band syndrome: etiology, clinical features, diagnosis

2005 ◽  
Vol 54 (2) ◽  
pp. 79-82
Author(s):  
V. G. Vakharlovsky ◽  
А. A. Koryukov ◽  
N. V. Belyak ◽  
А. А. Shikhmagomedov
Keyword(s):  
Birth Defects ◽  
Ultrasound Examination ◽  
Fetal Surgery ◽  
Clinical Heterogeneity ◽  
Congenital Diseases ◽  
Amniotic Band ◽  
Meckel Syndrome ◽  
Amniotic Band Syndrome ◽  
Edwards Syndrome ◽  
Limb Deformities

The article presents the problem of birth defects caused by amniotic bands (AB) amniotic band syndrome (ABS). This syndrome is of multifactorial origin, the incidence of diagnosis is 7,7:10 000 newborns. ABS is characterized by clinical heterogeneity: limb deformities (occur most frequently), head and brain abnormalities, rare cases of body disorders, omphalocele, etc. Fetal surgery through laser release of AB is described. In some cases ABS should be differentiated from Meckel syndrome, Edwards syndrome and other congenital diseases as well as neural tube defects. In case of ABS diagnosis in fetus as a result of ultrasound examination of a pregnant woman consultation of physicians (obstetriciangynaecologist, medical geneticist, specialist in ultrasound prenatal diagnostics, neonatologist surgeon) including pediatric orthopedist is needed to determine proper tactics of pregnancy management. Recurrence risks for future offspring of a woman whose child (or fetus in history) has had ABS as well as for the persons with ABS do not exceed 2 %.

Edwards Syndrome

2009 ◽  
pp. 565-565
Author(s):  
Kei Inai ◽  
Alexander K. C. Leung ◽  
Jouni Uitto ◽  
Gerhard-Paul Diller ◽  
Michael A. Gatzoulis ◽  
...  
Keyword(s):  
Edwards Syndrome

A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin

2008 ◽  
Vol 52 (1) ◽  
pp. 56-60 ◽  
Author(s):  
Claus Højbjerg Gravholt ◽  
Merete Bugge ◽  
Helle Strømkjaer ◽  
Monna Caprani ◽  
Ulrik Henriques ◽  
...  
Keyword(s):  
Chromosome 18 ◽  
Paternal Origin ◽  
Edwards Syndrome

Chromosomes

2017 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst
Keyword(s):  
Clinical Features ◽  
Support Groups ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Deletion Syndrome ◽  
Special Focus ◽  
22Q11 Deletion Syndrome ◽  
Chromosomal Disorders ◽  
Edwards Syndrome ◽  
Ring Chromosomes

This chapter lists a range of chromosomal disorders: the 22q11 deletion syndrome, Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), ring chromosomes, sex chromosome mosaicism, triploidy, Turner syndrome, and others. For each of the syndromes, special focus is given to the main clinical features. The chapter goes on to outline the main clinical features and management, as well as listing the support groups.

scholarly journals Complex Cardiac Defect in a Fetus with Trisomy 18: A Case Report

2017 ◽  
Vol 02 (01) ◽  
pp. 068-071
Author(s):  
Shagun Aggarwal
Keyword(s):  
Case Report ◽  
Bladder Outlet Obstruction ◽  
Outlet Obstruction ◽  
Esophageal Stenosis ◽  
Trisomy 18 ◽  
Cardiac Defect ◽  
Edwards Syndrome ◽  
The Family ◽  
Syndromic Diagnosis ◽  
Antenatal Detection

AbstractThis is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appropriate genetic counseling of the family and guidance for prenatal diagnosis in subsequent pregnancies.

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