Running Head: EDWARD SYNDROME 1

Edward Syndrome

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Introduction

Edwards syndrome is a chromosomal disorder characterized by having three copies of

chromosome 18 rather than having two copies. It is also called trisomy 18. Edwards

syndrome occurs in about 1 in every 5000live births[ CITATION Kum201 \l 1033 ].

Causes

Most cases of Edwards Syndrome are not inherited from a parent but happens from

random errors in the making of the eggs or sperms. If, during the cell division, a sperm or an

egg gain an extra copy of chromosome 18 and it contributes to pregnancy, the embryo will

have an extra chromosome 18 termed trisomy in each of the body cells. But there is also

Mosaic trisomy 18, where somebody cells have normal chromosomes 18 and others have

trisomy[ CITATION Kum201 \l 1033 ].

Diagnosis

If a doctor suspects trisomy 18 during pregnancy, he may request for an ultrasound,

however ultrasound may not be accurate, and the best way to detect trisomy 18 in utero is by

amniocentesis or chorionic villus sampling and analyze their chromosome. After birth, a

blood sample is drawn from the fetus and studied for chromosome abnormality[ CITATION

Kum201 \l 1033 ].

Signs and Symptoms

Edwards syndrome has primary symptoms such as physical abnormalities, heart

problems, and developmental disorders. Some anomalies are small and abnormally shaped

head(microcephaly), abnormally small jaw and mouth(micrognathia), long overlapping

fingers, underdeveloped fingernails, arched spine, and an abnormally shaped chest crossed

legs, umbilical hernia, and low birth weight. A lot of babies with Edward's syndrome die

before birth. There are 90% chances of death within their first year for those that get to be
EDWARD SYNDROME 3

born. Severe mental and physical handicaps are prominent in babies with lesser forms of

deficiency which may live to see adulthood[ CITATION App181 \l 1033 ].

Treatment and Management

Edwards’ syndrome has no cure and is fatal before birth or within the first year of life.

Treatment focuses on the symptoms. Cardiac management is the most important. The

children require palliative and corrective cardiac surgery, diuretic, and digoxin for congestive

heart failure. Also, orthopedic management of scoliosis is needed secondary to

hemivertebrae, gastrostomy, nasogastric supplementation for feeding difficulties, neonatal

Intensive Care (NICU) management, and respiratory infections such as pneumonia and

bronchitis treated appropriately[ CITATION App181 \l 1033 ].

EDWARD SYNDROME 4

References

Appolo Hospital. (2018, June 16). Appolo hospital. Retrieved from Edwards' Syndrome:

https://www.apollohospitals.com/

Kumar Lal,, M., Rohena, L., & Windle, M. (2020). Trisomy 18 Treatment & Management.

Mediascape. Retrieved from https://emedicine.medscape.com/article/943463-

treatment#d5