Down Syndrome

Question 1

How does Down Syndrome transmission occur?

Answer 1

Non disjunction
Translocation
Mosaicism

Question 2

Which mode of transmission is inherited?

Answer 2

Translocation
An extra chromosome 21 is inherited from a parent
Part of chromosome 21 becomes attached (translocated) onto another chromosome before or at conception

Question 3

Which mode of transmission is the most common?

Answer 3

Nondisjunction
***Responsible for the majority of cases (95%) and is not inherited
occurs during cell division and the embryo ends up with 47 chromosomes, with 3 copies of number 21

Question 4

T/F: Down Syndrome occurs more frequently in males than females and across all races and ethnic groups?

Answer 4

TRUE

Question 5

Which genetic test during pregnancy has high sensitivity and specificity for chromosomal disorders and has no risk to the fetus?

Answer 5

NIPT
Non invasive prenatal testing
**maternal blood can be analyzed for pieces of cell-free fetal DNA. The amount of fetal DNA from various chromosomes can provide information about fetal genetics.
done at 10 or more weeks gestation.

Question 6

Which genetic test is performed in the second trimester, includes analysis of chemicals and hormones to assess risk of 3 types of trisomy. It also examines the alpha fetoprotein, which can indicate whether the neural tube has properly fused?

Answer 6

Quad Screen

• ** done at 15-22 weeks gestation
• **detecs neural tube defects, trisomies 13, 18 and 21

Question 7

When is maternal serum screening done and what can it detect?

Answer 7

it is done between 10-14 weeks

It can detect an increased risk for trisomies 13, 18 and 21

Question 8

When is nuchal translucency done and what does it detect?

Answer 8

Done 10-14 weeks gestation (ideally 11 weeks gestation)

• • ultrasound evaluation of the fetal nuchal fold
• *it can detect fetal anomalies and aneuploidy

Question 9

Produced by growing fetus and found in amniotic fluid, fetal blood, and maternal blood

Answer 9

Alpha fetoprotein (AFP)

Question 10

made by placenta and fetal liver

Answer 10

Estriol

Question 11

made by placenta

Answer 11

HCG:

Question 12

What substances does the Quad Screen look for?

Answer 12

Estriol
AFP (alpha fetoprotein)
Inhibin A
hCG

Question 13

What are the two invasive tests that can be performed to check for genetic anomalies?

Answer 13

Chorionic villus samping (CVS): done after 10 weeks

Amniocentesis: performed around 15 weeks

Question 14

What are the three most common physical characteristics seen with Down Syndrome?

Answer 14

hypotonia
epicanthal folds
transverse palmar creases

Question 15

What is the most common cardiac defect seen with Down Syndrome?

Answer 15

Atrioventricular septal defect (ASD)

Question 16

Most Down Syndrome individuals have what form of intellectual developmental disability? (mild, moderate, severe or profound)

Answer 16

Most have MODERATE intellectual developmental disabilities

** IQ of 40 to 55

Question 17

Velocity of linear growth reduced, especially between ______and _________ months and again in ____________.

Answer 17

between 6 and 24 months

adolescence

Question 18

What age does the tendency to being overweight begin

Answer 18

Starts around 2 years of age

Question 19

Results from “loose joint” or laxity between C1 and C2
and has the potential to cause spinal compression. Early signs and symptoms include head tilt, torticollis or deterioration in gait?

Answer 19

Atlantoaxial Instability

Question 20

How do you screen for atlantoaxial instability and when is this screening recommended?

Answer 20

Recommend one set of cervical spine films between 3 and 5 years of age
Also participants in special Olympics need to be screened for this periodically

Question 21

At every age, children with Down syndrome are above _____ for weight?

Answer 21

85%

Question 22

Which defect interferes with gross motor development and causes laxity in the ligament structure?

Answer 22

Hypotonia

Question 23

Can females with Down Syndrome get pregnant?

Answer 23

YES

Question 24

What screening is performed at birth on child with Down syndrome?

Answer 24

EKG

cardiac ultrasound

Question 25

When is hearing screening performed?

Answer 25

six months
twelve months
and then yearly

Question 26

When is Thyroid (TSH and T4) testing performed?

Answer 26

six months and then yearly

Question 27

When are eye screenings performed?

Answer 27

six months and then yearly

Question 28

When are teeth screenings perfomed?

Answer 28

two years and then yearly

Question 29

When should a child with Down Syndrome undergo a sleep study?

Answer 29

Between 3-4 years of age or sooner if there are symptoms

Question 30

What is life expectancy for someone with Down Syndrome?

Answer 30

In 2015, life expectancy was around 60 years of age.