health

1. Case scenario 2: Study of a new born baby with Down’s Syndrome
Mrs.Qureshi married one year ago visited Gynae & Obs. Department .She
was diagnosed to have her first pregnancy. At 16 weeks' gestation, a triple screen
blood test was normal, indicating a 1/275 risk of Down Syndrome; based on this
test result, prenatal diagnosis was not considered. An ultrasound examination
performed at 18 weeks' gestation
revealed no abnormalities. Mrs. Qureshi s family history is significant for a 12-
yearold maternal first cousin with Down syndrome. At birth, Mr. and Mrs. Qureshi
s infant daughter was noted to have hypotonia, a heart murmur, and facial features
suggestive of Down syndrome. Mrs. Qureshi's physician met with her and her
husband to discuss the suspicion that the infant had Down syndrome. Blood was
obtained then for chromosomal studies; one week later, trisomy 21 (47, XX, +21)
was confirmed.
Learning Objectives
Participants will be able to:
Understand Genetic Trisomy
List the major medical complications in newborns with Down syndrome
Breaking the news of a newborn suffering from Down,s syndrome to the parents
Related Questions
a.What is the Typical Appearance of a patient suffering from Down,s syndrome?
Ans : some of the more common features include:
 Flattened face.
 Small head.
 Short neck.
 Protruding tongue.
 Upward slanting eye lids (palpebral fissures)
 Unusually shaped or small ears.
 Poor muscle tone.
 Broad, short hands with a single crease in the palm.
b.What is the Importance of Prenatal maternal serum screening?

2. Ans : It helps determine the chance of their unborn child having Down syndrome
(trisomy 21), Edward syndrome (trisomy 18) or a neural tube defect.
c. How can we support a child with Down,s syndrome in performing daily life
activities?
Ans : The medical students can support a child with Down s Sydrome by
First of all having a clear concept of the disease
Councelling of the parents
Proper referral to the physicians and psychotherapists