21-week pregnancy with trisomy 18 (Edwards syndrome) − bone malformations highlighted

2018 ◽  
Vol 20 (2) (1) ◽  
pp. 34-37
Author(s):  
Bogdan Botezatu ◽  
Mihai Mitran
Keyword(s):  
Cleft Lip ◽  
Genetic Disorder ◽  
Trisomy 18 ◽  
Therapeutic Abortion ◽  
Fetal Dna ◽  
Edwards Syndrome ◽  
Genetic Abnormalities ◽  
Small Head ◽  
Ocular Hypertelorism ◽  
Absent Radius

Edwards syndrome, also known as Trisomy 18 (T18) or Trisomy E, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes; clubfoot; and in males, undescended testicles. The diagnosis of Trisomy 18 is  by ultrasound and amniocentesis, the fetal DNA being examined for genetic abnormalities. Therapeutic abortion can be done.

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.

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

Multidisciplinary Approach for Treating Malocclusion of Patient With Basal Cell Nevus Syndrome: A Case Report

2019 ◽  
Vol 57 (2) ◽  
pp. 255-262
Author(s):  
Sayuri Inoue ◽  
Hiroshi Kurosaka ◽  
Donghoon Lee ◽  
Takashi Yamashiro
Keyword(s):  
Basal Cell ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Multidisciplinary Approach ◽  
Genetic Disorder ◽  
Dental Arch ◽  
Class Iii ◽  
Basal Cell Nevus Syndrome ◽  
Skeletal Class ◽  
Craniofacial Features

Basal cell nevus syndrome (BCNS) is a rare genetic disorder that can be caused by mutation of multiple genes, including PTCH1, PTCH2, and SUFU, in an autosomal dominant manner. The symptoms include some craniofacial features such as keratocystic odontogenic tumors (KCOTs), macrocephaly, and cleft lip and/or palate. Although comprehensive orthodontic treatment is frequently required for some of these craniofacial deformities, there are few reports that show the outcomes of comprehensive orthodontic treatment. Here, we report a case of BCNS with multiple KCOTs, macrocephaly, skeletal class III malocclusion, asymmetric dental arch, and mandibular crowding, which was successfully treated with comprehensive orthodontic treatment.

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.

Antenatal ultrasonographic diagnosis of trisomy 18 (Edwards syndrome)

1987 ◽  
Vol 26 (4) ◽  
pp. 353-358 ◽  
Author(s):  
M.J. Stevens ◽  
J. Dumon ◽  
Y. Jacquemyn ◽  
B. Van Roy ◽  
L. Delbeke ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Ultrasonographic Diagnosis ◽  
Edwards Syndrome

The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

1973 ◽  
Vol 116 (1) ◽  
pp. 13-22 ◽  
Author(s):  
K. Shibata ◽  
C. Waldenmaier ◽  
W. Hirsch
Keyword(s):  
Trisomy 18 ◽  
Edwards Syndrome

scholarly journals Early Identification of DMD in the Setting of West Syndrome

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110365
Author(s):  
Ahmed Razeq ◽  
Samiya Ahmad
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Disorder ◽  
Male Infant ◽  
Symptomatic Treatment ◽  
West Syndrome ◽  
Progressive Muscle Weakness ◽  
Pathogenic Variants ◽  
Genetic Abnormalities ◽  
Duchene Muscular Dystrophy ◽  
Dmd Gene

Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. We present a male infant with West syndrome, and multiple pathogenic variants, the ominous one being in the DMD gene. This case adds to confirming that West syndrome expands the spectrum of epilepsy that may be present in DMD patients. Additionally, this case can identify how the early use of steroids may shed light on effects of early symptomatic treatment of DMD.

scholarly journals Methods of detection and isolation of trophoblast cells from trans-cervical specimens – a historical overview

2021 ◽  
Vol 9 (4) ◽  
pp. 170-176
Author(s):  
Rafal Sibiak ◽  
Ewa Wender-Ożegowska
Keyword(s):  
Pregnancy Termination ◽  
First Trimester ◽  
Prenatal Diagnostics ◽  
Trophoblast Cells ◽  
Maternal Circulation ◽  
Fetal Dna ◽  
Trophoblastic Cells ◽  
Cervical Cell ◽  
Genetic Abnormalities ◽  
Planned Pregnancy

Abstract Trophoblast cells can be detected and isolated from the cervical epithelial cells obtained via various techniques of trans-cervical samples collection such as a mucus aspiration, endocervical lavage, or standard cervical brushing in the early first trimester, even from the 5 weeks’ gestation. Isolated fetal cells can be used in the early prediction of fetal sex, prenatal diagnostics of the most common aneuploidies, and any other genetic abnormalities. Nevertheless, the collection of trophoblastic cells has limited efficacy compared to currently used methods of detection of free fetal DNA in maternal circulation or other protocols of invasive prenatal diagnostics available at later stages of pregnancy. In the past years, trans-cervical cell samples were collected mainly in women before planned pregnancy termination. The early trophoblastic cells isolation from women in ongoing pregnancies opens new perspectives for further studies focused on the elucidation of pathophysiology of numerous pregnancy-related complications.

scholarly journals Trisomy 18 Case, with and without Cardiac Surgery

2020 ◽  
Vol 2 (3) ◽  
pp. 405-409
Author(s):  
Herlina Dimiati ◽  
Cut Nanda Feby Ayulinda
Keyword(s):  
Cardiac Surgery ◽  
Poor Prognosis ◽  
Congenital Heart ◽  
Heart Defects ◽  
Common Factors ◽  
Trisomy 18 ◽  
Chromosomal Disorder ◽  
Edwards Syndrome ◽  
Reduction Of Mortality ◽  
One Year

Trisomy 18, known as Edwards Syndrome, is the second-largest chromosomal disorder with a poor prognosis with the survival rate from 5 to 10% at one year of age. The most common factors underlying death are congenital heart defects, heart failure, and pulmonary hypertension. Cardiac surgery performed to patients with Trisomy 18 is associated with a reduction of mortality. This case report presents two cases of Trisomy 18, in which one of them underwent cardiac surgery.

Sign in / Sign up

Export Citation Format

Share Document