Ultrasound Findings
What condition(s) is typically associated with holoprosencephaly?
What is Trisomy 13
Bonus: Smith-Lemli-Opitz Syndrome
Caudal regression is commonly due to which type of teratogen?
What is Maternal Diabetes
In maternal serum screening, what may occur due to incorrect dating of the pregnancy?
What is a False Positive
NIPS may be performed at/after how many weeks gestation?
What is 10 weeks
The most common genetic condition in those with Ashkenazi Jewish ancestry is what?
Hint: Metabolic Disorder
What is Gaucher Disease
What condition is associated with a choroid plexus cyst on ultrasound?
What is Trisomy 18
A pediatric patient has microcephaly, developmental delays, and a heart defect. Mom has a metabolic disorder that was not managed during pregnancy. What condition does the mom likely have?
What is PKU
What two levels are measured in a first trimester screen?
What are hCG and PAPP-A
When can chorionic villi sampling be performed?
What is between 10-12.6 weeks
What is the carrier rate of Cystic Fibrosis in those with Caucasian ancestry?
What is 1/25
What condition is associated with a molar tooth sign on ultrasound?
What is Joubert Syndrome
A baby with salt and pepper retinopathy, a congenital heart defect, cataracts, and deafness was likely impacted by which teratogen?
Hint: TORCH
What is Rubella
What levels are measured in a Quad screen?
What are hCG, AFP, inhibin A, and estriol (uE3)
Which diagnostic testing sample collection method has a risk for confined placental mosaicism?
What is Chorionic Villi Sampling
What is the carrier rate of sickle cell in those with African American ancestry?
What is 1/12
What condition is an omphalocele typically associated with?
What is Beckwith-Wiedemann Syndrome
What are IgM Antibodies
True or False: A quad screen incorporates NT measurement?
What is False
(This is in the first trimester screen)
What are the two methods used for NIPS/cfDNA screening?
What are the Counting Method and SNP based Method
True or False: Carrier screening for SMA includes both CNV and sequence variants in SMN1
What is False
(Does not look at sequence variants typically)
What non-aneuploidy condition is a cystic hygroma associated with?
What is Noonan Syndrome
Severe anomalies of the CNS, ear, heart, and thymus may be due to which prescription medication?
High hCG and high inhibinA may be due to which aneuploidy?
What is Trisomy 21
Genetic testing for methylation conditions must be done after how many weeks?
What is 16 weeks (methylation patterns are not set)
What is the most common variant responsible for cystic fibrosis?
What is Delta F508del