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Trisomy 18: Edwards Syndrome

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Questions and Answers

What is the incidence of trisomy 18 in live births?

1:5,000

1:1,500

1:10,000

1:3,300 (correct)

Which of the following congenital heart defects is commonly associated with trisomy 18?

Hypoplastic left heart syndrome

Tetralogy of Fallot (correct)

Transposition of the great arteries

Coarctation of the aorta

What is the main reason for the low survival rate of individuals with trisomy 18?

Multisystem organ failure (correct)

Congenital heart defects

Respiratory distress

Severe intellectual disability

What is the name of the syndrome caused by trisomy 18?

Edwards syndrome Signup and view all the answers

What is the significance of the quadruple test in the diagnosis of trisomy 18?

It detects decreased levels of free estriol and AFP Signup and view all the answers

What is the abbreviation of the acronym PRINCE Edward, which helps in remembering the clinical features of trisomy 18?

Prominent occiput, Rocker-bottom feet, Intellectual disability, Nondisjunction, Clenched fists, low-set Ears, and chromosome 18 Signup and view all the answers

What is the survival rate of individuals with trisomy 18 beyond 12 months of age?

Approximately 13% Signup and view all the answers

Study Notes

Trisomy 18 (Edwards Syndrome)

Karyotype: ♀: 47,XX,+18, ♂: 47,XY,+18
Incidence: approximately 1 in 3,300 live births

Pathogenesis

Caused by meiotic nondisjunction

Clinical Features

Characteristic facial anomalies:
- Low-set ears (malformed auricle)
- Micrognathia (congenital mandibular hypoplasia)
- Prominent occiput
- Microcephaly
- Broad nose
- Cleft lip and palate, high palate
Limb anomalies:
- Clenched fists with flexion contractures and overlapping fingers
- Rocker-bottom feet:
  - Convex deformity of the plantar side of the foot
  - Vertical talus
  - Prominent calcaneus
Congenital heart defects:
- Ventricular septal defect (VSD)
- Atrial septal defect (ASD)
- Tetralogy of Fallot
Malformations of internal organs:
- Diaphragmatic hernia
- Ureter and kidney malformations (horseshoe kidneys)
- Myelomeningocele
- Omphalocele
Severe intellectual disability

Diagnosis

Quadruple test in the second trimester:
- Decreased free estriol
- Decreased AFP
- Decreased β-HCG
- Normal or decreased inhibin A

Prognosis

Approximately 13% of patients survive past 12 months of age

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Description

Learn about the characteristics and features of Trisomy 18, also known as Edwards syndrome, including its incidence, pathogenesis, and clinical features. Test your knowledge of this genetic disorder!