Preconception + Prenatal Genetic Counseling Flashcards
1
Q
Clinical impact of mosaic embryos
A
when mosaic embryos are transferred, implantation rates are lower and miscarriage rates are higher (compared to euploid transfers), live births have been reported
2
Q
What can be detected during first trimester US (11-13 weeks)
A
Increased nuchal translucency
Cystic hygroma
Abdominal wall defects (omphalocele)
Nueral tube defects (anencephaly)
3
Q
Associations with cystic hygromas
A
Turner syndrome, cardiac defects, Noonan syndrome
4
Q
Examples of soft markers
A
Absent/hypoplastic nasal bone, second trimester nuchal fold, echogenic intracardiac focus, choroid plexus cysts, echogenic bowel, pylectasis
5
Q
When can CVS be preformed
A
11 - 13 weeks
6
Q
When can amnio be performed
A
16- 20 weeks
7
Q
A
