Prenatal Diagnosis And Fetal Therapy Flashcards
What is the goal of pre-natal diagnosis:
provide counseling and optimize outcome
The science of identifying STRUCTURAL or FUNCTIONAL abnormalities in the developing fetus
Prenatal diagnosis
3 categories of diagnostic evalutation:
☑️ Fetuses at high risk for a genetic or congenital disorder
☑️ Fetuses at unknown risk for common congenital abnormalities
☑️ Fetuses discovered ultrasonographically to have structural or developmental abnormalities
Fetuses at high risk for genetic or congenital disorders:
- Fetal aneuploidy
- Isolated structural anomalies
- Familial Genetic disease
An intrinsic abnormality “programmed” in development, regardless of whether a precise genetic etiology is known
Malformation
When a genetically normal fetus develops abnormally because of MECHANICAL forces imposed by the uterine environment
Deformation
Occurs when genetically normal tissue is modified as the result of a specific insult
Disruption
A cluster of several anomalies or defects, wherein all the abnormalities have the same cause
Syndrome
Anomalies also may develop sequentially as result of one initial insult
Sequence
Particular anomalies occur together frequently but DONT SEEM to be linked etiologically
Association
What is the meaning of VATER:
association of: Vertebral defects Anal atresia Tracheoesophageal fistula with Esophageal atresia Radial dysplasia
The second most common class of birth defect
Neural tube defects
Open neural tube defects includes:
Anencephaly
Spina bifida
Cephalocele
Other rare spinal fusion (schisis) abnormalities
Risk factors of NTDs
- Family history of NTDs
- Exposure to certain environmental agents
- History of a genetic syndrome or anatomical anomalies associated with NTDs
- Belonging to a high-risk racial or ethnic group, living in a high-risk geographical region, or both
- Production of anti-folate receptor antibodies
Medications that can cause NTD
Valproic acid Carbamazepine Coumadin Aminopterin Thalidomide Efavirenz
