What Syndrome Do I have?
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
When is the best gestational age for an amnio to be performed?
14-20 wks
An individual who has turner syndrome and is born alive at birth are severely affected and will not live to see middle age
False
Triploidy
What syndrome might I have if I have low unconjugated estriol, hCG and AFP on triple screen
Trisomy 18-Edward Syndrome
My kidneys and liver are very large and I have a large tongue. What syndrome do I have?
Bechwith-Weidemann Syndrome
What is a diagnostic test that a sample the placenta to identify T13, T18, and T21
CVS (chorionic villus sampling)
T21 individuals commonly have heart anomalies
True
What is the most common syndrome in humans?
Trisomy 21 - Downs syndrome
What can be a complication from a CVS if they are done early?
Limb reduction, SAB, Infection
I have a thickened nuchal fold, a double bubble appearing stomach, and short femurs. What syndrome do I have?
Trisomy 21 - Down Syndrome
What test can be used to test lung maturity?
Amniocentesis
The transmission of a genetic code from parents to offspring is called sequence
False - Inheritance
Limb-body wall complex
What gestational age is a CVS commonly performed?
10-13 wks
I have a very large cystic hygroma. What syndrome do I possibly have?
Turner's syndrome
What test takes maternal blood to screen fetal DNA?
Free cell DNA (AKA -harmony)
An amniocentesis can rule out T21 in at-risk patients
True
What syndrome has a 16% association with maternal diabetes?
Caudal Regression Syndrome
What is the the name of a finding where there is a single flexion crease?
Simian Crease
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
What procedure samples blood from the umbilical cord and is not used as often?
PUBS - Percutaneous Umbilical Cord Sampling
The most common cause of fetal demise in the first trimester is maternal diabetes
False - chromosomal anomalies
What syndrome is often associated with holoprosencephaly?
Trisomy 13 - Patau Syndrome
What syndrome might I have if testing showed low unconjugated estriol, PAPP-A and AFP
Trisomy 21 - Down syndrome