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Karyotyping
a sample of peripheral venous blood or a scraping of cells from the buccal membrane is taken. Cells are then stained, placed under a microscope, and photographed.
Maternal Serum Screening
Alpha-fetoprotein (AFP) is a glycoprotein produced by the fetal liver that reaches a peak in maternal serum between the 13th and 32nd week of pregnancy.
fetal spinal cord disease = elevated
fetal chromosomal disorder = decreased
Chorionic Villi Sampling
is a diagnostic technique that involves the retrieval and analysis of chorionic villi from the growing placenta for chromosome or DNA analysis.
The test is highly accurate and yields no more false-positive results than does amniocentesis.
Amniocentesis
is the withdrawal of amniotic fluid through the abdominal wall for analysis at the 14th to 16th week of pregnancy.
acetylcholinesterase
a breakdown product of blood or a substance indicating the presence of blood.
Percutaneous Umbilical Blood Sampling.
or cordocentesis, is the removal of blood from the fetal umbilical cord at about 17 weeks using an amniocentesis technique. This allows analysis of blood components as well as more rapid karyotyping than is possible when only skin cells are removed.
Fetal Imaging
Magnetic resonance imaging (MRI) and ultrasound are diagnostic tools used to assess a fetus for general size and structural disorders of the internal organs, spine, and limbs.
Fetoscopy
is the 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.
Preimplantation Diagnosis
is possible for in vitro fertilization procedures. It may be possible in the future for a naturally fertilized ovum to be removed from the uterus by lavage before implantation and studied for DNA analysis this same way.
salpingitis
inflammation of the fallopian tube
endometriosis
occurs when endometrial tissue grows outside of the uterus.
pelvic adhesions
bands of scar that bind organs that can form after pelvic infection, appendicitis, endometriosis, or abdominal/pelvic surgery.
prolactin
which hormone stimulates breast milk production.