Screening Procedures for Genetic Abnormalities

Question 1

peripheral venous blood or scraped cells (buccal area)

Answer 1

Karyotyping

Question 2

assesses alpha-fetoprotein (AFP)

Answer 2

assesses alpha-fetoprotein (AFP)

Question 3

chorionic villi (placenta) for DNA analysis Done as early as 5 weeks AOG

Answer 3

Chorionic Villi Sampling

Question 4

WOF: vaginal bleeding, chills, and signs of infection Rh negative: give RhoGAM to prevent isoimmunization

Answer 4

Chorionic Villi Sampling

Question 5

withdrawal of amniotic fluid through the abdominal wall for analysis

Answer 5

amniocentesis

Question 6

“cordocentesis”

Answer 6

Percutaneous Umbilical Cord Blood Sampling

Question 7

removal of blood from the fetal umbilical cord at about 17 weeks AOG using amniocentesis technique

Answer 7

percutaneous Umbilical Cord Blood Sampling

Question 8

Magnetic Resonance Imaging (MRI) and ultrasound are used to assess for general size and structural disorders of
the internal organs, spine, or limbs

Answer 8

Fetal Imaging

Question 9

insertion of a fiberoptic fetoscope through a small incision in the mother’s abdomen into the uterus and membranes to visually inspect the fetus for gross
abnormalities

Answer 9

Fetoscopy