genetic assessment and counseling - Sheet1 Flashcards
What weeks encompass the first trimester of pregnancy?
Weeks 1-12.
What weeks encompass the second trimester of pregnancy?
Weeks 13-27.
What weeks encompass the third trimester of pregnancy?
Weeks 28-40.
What is included in the assessment measures for genetic disorders?
Detailed family history (3 generations), physical exams of parents and affected children, lab blood tests, amniotic fluid, and maternal/fetal cell analysis.
What routine screening is offered in the first trimester to evaluate chromosomal disorders?
Nuchal translucency sonogram and maternal serum analysis of Alpha-fetoprotein, PAPPA-A, and free beta hCG.
Who may be offered additional genetic testing like CVS and amniocentesis?
Women over age 35 or those with abnormal genetic screening results.
What is the purpose of procedures like CVS and amniocentesis?
To diagnose chromosomal genetic disorders.
What roles do nurses play in genetic assessment and counseling?
Obtain family history, assist with physical exams, collect blood serum, and assist with procedures like amniocentesis.
What is the timing for a nuchal translucency test?
Between 11-14 weeks.
What is the process for a nuchal translucency test?
Ultrasound to assess fetal neck thickness and maternal blood analysis.
Is a nuchal translucency test invasive or noninvasive?
Noninvasive (sonogram and blood draw).
What does a nuchal translucency test screen for?
Down syndrome, trisomy 18, and trisomy 13.
When is chorionic villus sampling (CVS) performed?
Between 10-12 weeks (first trimester).
What is the process of CVS?
Biopsy of placental tissue.
Is CVS invasive or noninvasive?
Invasive.
What are the risks of CVS?
Risk of miscarriage.
What does CVS diagnose?
Chromosomal abnormalities.
What is the timing for maternal quadruple marker screening?
Between 15-20 weeks.
What is the process of maternal quadruple marker screening?
Maternal blood draw.
Is maternal quadruple marker screening invasive or noninvasive?
Noninvasive.
What does maternal quadruple marker screening detect?
Down syndrome, trisomy 18, and open neural tube defects.
When is amniocentesis performed?
Between 15-18 weeks.
What is the process for amniocentesis?
Collection of amniotic fluid containing fetal skin cells through the maternal abdomen.
Is amniocentesis invasive or noninvasive?
Invasive.
What are the risks of amniocentesis?
Risk of miscarriage.
What does amniocentesis diagnose?
Down syndrome and other chromosomal abnormalities.
When is a fetal anatomy scan performed?
Between 18-22 weeks (second trimester).
What is the process for a fetal anatomy scan?
Ultrasound of the fetal anatomy.
Is the fetal anatomy scan invasive or noninvasive?
Noninvasive.
What does a fetal anatomy scan screen for?
Delta anomalies (e.g., cleft lip, club foot).
What are common genetic disorders detectable by maternal serum, amniocentesis, or CVS?
Down syndrome (trisomy 21), trisomy 18, trisomy 13, Cri-du-chat syndrome, Fragile X syndrome, Philadelphia chromosome, Turner syndrome, Klinefelter syndrome.
