Trisomy QF-PCR

Question 1

Trisomy QF-PCR stands for…

Answer 1

quantitative fluorescence polymerase chain reaction for trisomy

Question 2

A neonate

Answer 2

is a newborn infant, specifically one that is four weeks old or younger. The neonatal period is a very important time in a baby’s life, as it is a period of rapid development and adjustment to life outside the womb.

Question 3

POC

Answer 3

-refers to the genetic analysis of tissue samples obtained from a pregnancy that has ended in miscarriage, called products of conception (POC).

-These tests are performed to identify chromosomal abnormalities in the foetus that may have contributed to the miscarriage.

Question 4

Trisomy 21

Answer 4

-Down Syndrome
- genetic condition caused by the presence of all or part of a third copy of chromosome 21

Question 5

Cause of Trisomy 21 (Down Syndrome)

Answer 5

-Extra copy of chromosome 21 (most common cause)
-Translocation (extra chromosome material attached to another chromosome) - less common
-Mosaic Down syndrome (some cells have three copies, others have two) - least common

Question 6

Symptoms of Tris 21

Answer 6

-Mild to moderate intellectual disability
-Developmental delays
-Distinctive facial features (e.g., flattened bridge of the nose, upward slanting eyes)
-Short stature
-Low muscle tone
-Heart defects (common)
-Increased risk of certain health conditions (e.g., thyroid problems, leukemia)

Question 7

Diagnosis of Tris 21

Answer 7

-Prenatal testing (amniocentesis, chorionic villus sampling) - can detect trisomy 21 before birth
-Newborn screening - shortly after birth to check for common genetic conditions