Prenatal Diagnostics
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| Define prenatal diagnostics. | Used to verify the presence or absence of genetic, structural, or metabolic birth defects. | |
| What is Maternal Serum Alpha-Fetoprotein Screening? | Alpha-fetoprotein (AFP) is produced by the fetus and can be found in the amniotic fluid and crosses into the maternal serum, high false positive rate. | |
| What is indicated by AFP increases? | Neural tube defects of multiple pregnancies. | |
| What is indicated by AFP decreases? | Chromosomal defects such as Down’s syndrome. | |
| What is ultrasound (sonography) used to determine? | Physical structure, size, growth, and large birth defects of fetus, least risky diagnostic procedure. | |
| What are the indications for amniocentesis? | Risk of chromosomal abnormality, increased maternal age. | |
| What analysis can be done with amniocentesis? | Karyotyping, enzymes, and DNA, can identify chromosomal abnormalities. | |
| What are the risks/drawbacks associated with amniocentesis? | Risk of spontaneous abortion (1%), may stick fetus, may cause early contractures leading to premature birth, results available in 2-3 weeks. | |
| What is chorionic villi sampling? | A procedure used to obtain a small biopsy from the outermost membrane surrounding the embryo, the chorion. Chorionic cells do not have to be cultured. | |
| What analysis can be done with chorionic villi sampling? | Chromosomal and enzymatic. | |
| What are the advantages of chorionic villi sampling? | Can be performed earlier than amniocentesis, results are available within a few days, due to earlier diagnosis less risk for mother if pregnancy is terminated. | |
| What are the risks associated with chorionic villi sampling? | Risk of spontaneous abortion (1%), abnormal, shortened limbs, false positive or false negatives. | |
| What is fetoscopy? | Insertion of a telescopic device through the uterine wall to directly visualize the placenta and fetus, allows sampling of fetal blood from placenta. | |
| What is a risk associated with fetoscopy? | Infection. |
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