Show:
What Syndrome Do I have?
Testing
True/False
Good To Know
A Little Xtra
100

I have clenched hands with over-lapping fingers, my belly is <10% for my gestational age, and I have rocker-bottom feet. What syndrome do I have?

Trisomy 18- Edwards Syndrome

100

When is the best gestational age for an amnio to be performed?

14-20 wks

100

An individual who has turner syndrome and is born alive at birth are severely affected and will not live to see middle age

False

100
Placenta appears cystic and there is a baby measuring growth restricted. What chromosomal anomaly might this be?

Triploidy

100

What syndrome might I have if I have low unconjugated estriol, hCG and AFP on triple screen

Trisomy 18-Edward Syndrome

200

My kidneys and liver are very large and I have a large tongue. What syndrome do I have?

Bechwith-Weidemann Syndrome

200

What is a diagnostic test that a sample the placenta to identify T13, T18, and T21

CVS (chorionic villus sampling)

200

T21 individuals commonly have heart anomalies

True

200

What is the most common syndrome in humans?

Trisomy 21 - Downs syndrome

200

What can be a complication from a CVS if they are done early?

Limb reduction, SAB, Infection

300

I have a thickened nuchal fold, a double bubble appearing stomach, and short femurs. What syndrome do I have?

Trisomy 21 - Down Syndrome

300

What test can be used to test lung maturity?

Amniocentesis

300

The transmission of a genetic code from parents to offspring is called sequence

False - Inheritance

300
What is it called when there is an amnion rupture that reattaches to the embryo?

Limb-body wall complex

300

What gestational age is a CVS commonly performed?

10-13 wks

400

I have a very large cystic hygroma. What syndrome do I possibly have?

Turner's syndrome

400

What test takes maternal blood to screen fetal DNA?

Free cell DNA (AKA -harmony)

400

An amniocentesis can rule out T21 in at-risk patients

True

400

What syndrome has a 16% association with maternal diabetes?

Caudal Regression Syndrome

400

What is the the name of a finding where there is a single flexion crease?

Simian Crease

500

I am measuring small, have microcephaly, cleft lip/palate, AVSD, fused thalami, and small orbits. What syndrome do I potentially have?

Trisomy 13-Patau Syndrome

500

What procedure samples blood from the umbilical cord and is not used as often?

PUBS - Percutaneous Umbilical Cord Sampling

500

The most common cause of fetal demise in the first trimester is maternal diabetes

False - chromosomal anomalies

500

What syndrome is often associated with holoprosencephaly?

Trisomy 13 - Patau Syndrome

500

What syndrome might I have if testing showed low unconjugated estriol, PAPP-A and AFP

Trisomy 21 - Down syndrome