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 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

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

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.

scholarly journals A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

2020 ◽  
Author(s):  
Stefania Triunfo ◽  
Marta Bonollo ◽  
Priska Gaffuri ◽  
Manuela Viviano ◽  
Daniele Satta ◽  
...  
Keyword(s):  
Maternal Age ◽  
Extra Chromosome ◽  
First Trimester ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Comfort Care ◽  
Autopsy Findings ◽  
Balanced Approach ◽  
Edwards Syndrome ◽  
The Impact

Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.

scholarly journals P041 Moral dilemmas and ethical discomfort in paediatric pharmacists

2019 ◽  
Vol 104 (7) ◽  
pp. e2.47-e2
Author(s):  
Nicola Wilson ◽  
Elaine Liston ◽  
Lauren Williams
Keyword(s):  
Intensive Care ◽  
Moral Distress ◽  
Pharmacy Practice ◽  
Moral Dilemmas ◽  
Trisomy 18 ◽  
Paediatric Intensive Care ◽  
Trisomy 13 ◽  
List Type ◽  
Comfort Zone ◽  
Edwards Syndrome

SituationA five week old infant admitted to a tertiary paediatric hospital with coryzal symptoms on a background of Edwards Syndrome (Trisomy 18) and congenital cardiac disease. Despite her grave prognosis, she was intubated and ventilated. She spent many months in hospital, eventually having surgical repair of her cardiac defect which had little or no effect on her clinical condition. She was discharged to a children’s hospice after seven months in our hospital (with short periods at home and her local hospital), at the age of eight months, for end of life care. As pharmacists actively involved in her care, but with limited input to her ethical situation, we suffered moral distress.BackgroundEdwards Syndrome is a rare genetic condition which occurs in 1 in 5000 live births. Infants are severely disabled. Accurate figures for miscarried or terminated pregnancies are not available. Only 8% of babies survive beyond one year unless they have a less severe form (mosaic or partial).1 Our patient had a post-natal diagnosis and her parents were determined that she be given every opportunity that would be offered to a non-Edwards child. We are three pharmacists who work in paediatric intensive care and paediatric cardiology. We were actively involved in the care of this patient and her family for several months. Although we work closely with the multidisciplinary team, we were not included in discussions about appropriateness of interventions. We were however, expected to speak to her parents about medicines on a regular basis, including during a very difficult and prolonged wean of sedation which was causing physical distress to the patient and her parents.OutcomeBeing involved in interventions which are unlikely to improve or extend a patient’s life is difficult, but especially so when you have had little or no influence on the original decision. The eventual outcome was exactly as predicted on admission: she was discharged to a hospice and expected to deteriorate slowly. Her discharge was written by one of the PICU pharmacists and her parents were counselled by another, so we were involved until the end of her admission.DiscussionAs a pharmacy team, we only have each other to talk to: our distress cannot compare to that of medical or nursing staff who are more closely involved in the patient. We are limited in what we can discuss outside of work due to patient confidentiality. With the relatively recent introduction of pharmacist independent prescribing in our PICU and cardiology wards, we are often asked to prescribe outwith our comfort zone and are able to refuse. As our prescribing roles become more embedded, our comfort zone will expand and we will be expected to prescribe in morally ambiguous situations such as this one. Studies have shown that community pharmacists are prone to moral distress,2 as they work in a highly regulated profession and their actions are often bound by laws and contracts over which they have little control, and in hospital we suffer the same fate.3ReferencesWu J, Springett A, Morris JK. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011. Am J Med Genet Part A 2013;161A:2512–2518.Astbury JL, Gallagher CT, O’Neill RC. The issue of moral distress in community pharmacy practice: background and research agenda. International Journal of Pharmacy Practice 2015;23(5);361–6.Prentice T, Janvier A, Gillam L, et al. Moral distress within neonatal and paediatric intensive care units: a systematic review. Archives of Disease in Childhood 2016;1012(8):701–8.

Triple Test for Prenatal Detection of Edwards Syndrome (Trisomy 18)

1996 ◽  
Vol 22 (1) ◽  
pp. 57-60 ◽  
Author(s):  
M. J. Sinosich ◽  
B. Cameron ◽  
R. D. Robertson ◽  
D. M. Saunders
Keyword(s):  
Trisomy 18 ◽  
Prenatal Detection ◽  
Triple Test ◽  
Edwards Syndrome

scholarly journals A Case of Prenatal Diagnosis of Trisomy 18 with Ultrasound

2016 ◽  
Author(s):  
Yusrawati Yusrawati ◽  
Yudha M Kartika
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Hernia ◽  
Chromosome Analysis ◽  
Serum Markers ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Term Pregnancy ◽  
Edwards Syndrome ◽  
Umbilical Hernia Repair ◽  
Female Baby

Objective: To report a case of trisomy 18 diagnosed in prenatal care. Methods: Case report. Case: A 24 years old primigravida woman was diagnosed with term pregnancy (37-38 weeks) with an intrauterine singleton live fetus with Edwards syndrome. In 15-16 weeks of pregnancy the omphalocele was discovered using ultrasound. Subsequently, amniocentesis was performed and the chromosome analysis result showed Edwards syndrome (47, XX +18). The patient chose to continue the pregnancy until term. In this patient, elective CS was performed at term pregnancy, involving teamwork between obstetrics and perinatology. A female baby was born weighing 1720 grams, 40 cm body length, and APGAR score of 5/7. The congenital anomalies discovered include umbilical hernia, rocker bottom feet, clenched hands, low set malformed ears, and a single umbilical artery. The baby was born with asphyxia, improved after resuscitation, and required treatment in the NICU. Pediatric surgeons planned umbilical hernia repair. Furthermore, because of the presence of suspected esophageal atresia, the baby was planned for gastrotomy, which was delayed because the baby was experiencing desaturation. Because of the unstable condition of the baby, echocardiography and gastrotomy were not done until the 18th day of treatment. At the 18th day, the baby’s condition deteriorated and the baby died with metabolic acidosis. Conclusion: Edwards syndrome can be diagnosed in the prenatal period by risk factors consideration, maternal serum markers, and ultrasonographic identification of organ abnormalities. [Indones J Obstet Gynecol 2015; 3-4: 234-238] Keywords: Edwards syndrome, prenatal diagnosis, trisomy 18, ultrasound

Sign in / Sign up

Export Citation Format

Share Document