Maternity 6-2 Flashcards
AUTOSOMES - how many?
22 pairs of AUTOSOMES (any chromosome not a sex hormone)
how many sex chromosomes
1 pair of sex chromosomes
chromosome
how you get your genes from your parents. located in nucleus.
genes are a
portion of DNA
GENOTYPE
GENOTYPE = the genetic makeup of an individual when discussing a specific gene pair (can also be used to refer to an individual’s entire genetic makeup)
PHENOTYPE
PHENOTYPE = the observable expression of an individual’s genotype, such as physical features, a biochemical or molecular trait, or a psychological trait.
DOMINANT
DOMINANT = expressed (or phenotypically apparent) when only one copy of an allele is associated with the trait present.
RECESSIVE
RECESSIVE = expressed only when two copies of the alleles associated with the trait are present.
Karyotype (number forms the size of kary)
Pictorial analysis of number, form, and size of an individual’s chromosomes
Commonly uses white blood cells and fetal cells in amniotic fluid. used to test for diseases. what’s individual to you.
how do we get chromosomal abnormalities? (3 things)
Inherited
Spontaneous
Acquired
abnormality of chromosomal number (somi is abnormal)
Monosomies (just one); trisomy’s (one extra, 3)
Polyploidy
abnormality of chromosome structure (dit structure)
Deletions
Inversions
Translocations
sex chrome abnormality
ambiguous gender at birth
Deviations (poly ane is a deviant)
Polyploidy
Aneuploidy
Aneuploidy is the phenomenon in which a cell can have one or a couple of chromosomes missing or present in surplus. On the other hand, polyploidy refers to the presence of extra complete sets of chromosomes
Polyploidy (poly is an incompatible exact copy)
Polyploidy – the deviations is an exact multiple of the haploid number of a set of chromosomes. 3 sets of chromosomes. ( incompatible with life)
Aneuploidy (ana is not exactly a trisomy)
the deviation is not an exact multiple of the haploid set. This is Monosomies and trisomy’s. Trisomy the most common.
chromosome abnormality - how common (666 is abnormal)
Incidence :
0.6 % in newborns
6% in stillbirths
60% in spontaneous abortions
trisomies most
common
chromosomal abnormality structure - translocation
exchange of chromosomal material, can occur in any chromosome.
Autosomal Dominant Inheritance
Only one copy of the variant (the bad one) allele is needed for phenotypic expression.
Heterozygous
you have a 50% chance of passing it on a variant.
Vertical Transmission
the transfer of genetic material is from parents to offspring
Autosomal Recessive Inheritance (you can’t see recessive)
2 carriers of variant, they don’t express it. 25% of offspring are affected, 25% are unaffected, and 50% are carriers.
punnet squares
will be on the test
x-linked inheritence (no X for males)
Mimics autosomal dominant except no male-to-male transmission. (male doesn’t pass on X to male)
multifactoral inheritance - ex.
when more than 1 factor causes a trait or health problem. ex - cleft palate and spinal bifida
Causes of Human Anomalies (the environment is infectious)
environment, maternal conditions (alcoholism - it actually changes your dna), infectious agents, mechanical problems
Genetic Evaluation and Counseling
Genetic counseling: The process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing it, and the options open to them in management and family planning in order to prevent, avoid, or ameliorate it
Variety of reasons an individual should be referred to genetic counseling (see Box 10.2)
Ideal time: before conception
Nursing Roles and Responsibilities - beginnings
Beginning the preconception counseling process and referring for further genetic information
Nursing Roles and Responsibilities - taking (taking the history)
taking a family history
Nursing Roles and Responsibilities - scheduling
schedule genetic testing
Nursing Roles and Responsibilities - explaining
Explaining the purposes, risks/benefits of all screening and diagnostic tests (see Laboratory and Diagnostic Tests 10.1)
Nursing Roles and Responsibilities - answering
Answering questions and addressing concerns
review slide
36
INFERTILITY - definition (don’t forget viability)
Failure to achieve a successful pregnancy after 12 months or more of appropriate, timed, unprotected intercourse or therapeutic donor insemination
OR
Inability to carry pregnancy to viability.
Increase of Infertility - Ovarian disfunction (the ovaries have weight and immune problems)
Advancing age (reduced oocyte quality)
Overweight/ underweight
Immune system disorders
Psychological stress
Increase of Infertility - this has to work for fertility
Normal functioning of an intact hypothalamic-pituitary-gonadal axis
Increase of Infertility - Tubal/Pelvic Pathology (tube ride)
STI’s (scar fallopian tubes)
Fibroids (scarring)
Cervical stenosis (sperm can’t get in)
Endometriosis (bleeding into abdomen)
copy slide
45
Initial Infertility Assessment - what labs?
Complete history and physical exam
Assessment of the reproductive track
Labs - check hormone levels, CBCs, thyroid
Detection of Ovulation - direct proof
Retrieval of an ovum from the uterine tube
Assessment of Cervical Mucus (mucus is spinning)
Low Viscosity
High Spinbarkeit
look at slide
51
hormone analysis - prolactin and thyroid
dx the cause of irregular or absent menstrual cycle