Term
FIRST
First trimester integrated screening for triosomies |
|
Definition
Performed 11-14 weeks gestation
Maternal serum free hCG and PAP-A
Nuchal measurement
Maternal Age
Detects: 80% fetal Down syndrome
90% of trisomy 18 |
|
|
Term
|
Definition
0.1% procedure risk
16-20 weeks gestation
For DNA or karyotype analysis |
|
|
Term
| Second Trimester maternal Serum Screening |
|
Definition
Triple screen:
Alphafoetoprotein(AFP)
Human chorionic gonadotropin(hCG)
unconjugated estriol(uE3)
Used to detect:
ONTDs, Downsyndrome, trisomy 18
SLO, triploidy, turner syndrome, IUFD
Downs pregnancies:
AFP~70% normal uE3 ~75% hCG elevated
AFP is elevated in NTD |
|
|
Term
| Screening for Genetic Disease by Ethnicity |
|
Definition
African American: Sickle Cell
Jewish: Tay-sach, canavan, gaucher
Mediterranean: B-Thalassaemia
Southeast Asian: a-thalassaemia
Caucasian: Cystic Fibrosis |
|
|
Term
|
Definition
|
|
