Obstetrics Flashcards
(704 cards)
How do genetics improve our ability to predict susceptibility, onset, and progression of disease and the response to treatment?
It provides genetic markers, indicating response to medication
Study of a single gene disorder
Genetics
Study of all the genes in the human genome together including including interactions with each other, influence of psychological factors and cultural factors
Genomics
Why are genetic diseases now more difficult to diagnose?
Intermingling of races
What is the nurse’s role in genetics?
Preconception counseling and testing, neonatal screening, palliative care, and specialized care
Which genetic abnormality requires immediate palliative care?
Ancephally
Which genetic test has a high false positive rate for open spinal disorders?
Alfa fetal protein
Why do people not like to do genetic testing?
Insurances can raise their rates or drop them based on the result
When is the heart formed?
3-5 weeks after conception
A major cause of reproductive loss, congenital problems and gynecologic disorders
Chromosomal abnormalities
When do chromosomal abnormalities occur?
During mitosis or meiosis
What are the sex chromosomal abnormalities?
Turner, Klinefelter’s, and XXY
What type of genetic testing is direct or molecular?
Linkage analysis
What type of genetic testing is biochemical?
Cytogenetic testing
What are the types of prenatal genetic testing?
Maternal serum screening, fetal ultrasound, amniocentesis, and chronic villus sampling
What is the chromosomal abnormality associated with Turner syndrome?
Monosomy X
What does Turner’s syndrome present as?
Female has underdeveloped ovaries, is short, has webbing of the neck, a low hairline in the back, low set ears, lymphedema of the hands and feet and may have impaired intelligence
What does Klinefelter’s syndrome present as?
Male has poorly developed secondary sex characteristics and small testes, is infertile, tall, effeminate and slow to learn
What is the XXY abnormality linked to ?
Aggression
Single gene controlling a trait, disorder or defect
Unifactorial
What are examples of unifactorial defects?
Autosomal dominant inheritance, autosomal recessive disorder, inborn errors of metabolism, X-linked dominant inheritance, and X-linked recessive inheritance
Which disease is an inborn error of metabolism?
PKU
What does PKU present as?
Light skin, hair, and eyes, delayed mental and social skills, small head, hyperactivity, intellectual disability, seizures, and rashes
A disease caused by a defective gene that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body
Cystic Fibrosis