Ch. 6: Genetics Flashcards
Recent advances in molecular biology and genomics have revolutionized the field of healthcare by providing the tools needed to determine the hereditary component of many diseases as well as improve our ability to predict susceptibility to disease onset and progression of disease and response to medications while genes are the basic physical units of inheritance The genome is the entire set of genetic instructions found in each cell genetic services are rapidly becoming an integral part of routine Healthcare and are super important things like preconception counseling and palliative care for infants and neonatal genetic testing
Provides the tools to determine the hereditary component of many diseases
Improves our ability to predict susceptibility, onset, progression, and response to treatment
Advances in genetic testing and genetically based treatments have altered care
A gradual shift from genetics to genomics
What is the Human Genome Project?
Genetics
The Human Genome Project was a publicly funded International effort coordinated by the NIH and the department of energy believe it or not his initiated back in the early 90s with the goal of mapping the entire Human Genome it’s that complete set of genetic instructions in the nucleus of each human cell and through this two key findings from that project were that number one all human beings are 99.9% identical at the level of DNA and number two there’s over 20,000 genes in the human genome the finding that human beings are 99.9% identical at the DNA level should help discourage the use of science as a justification for drawing precise racial boundaries around certain groups of people
All same at molecular level
What is the Human Genome Project?
Some of the competencies most relevant to nurses in maternity nursing when it comes to genetics and genomics include pedigrees being able to construct a pedigree collected from family history information developing plans of care that incorporate genetic and genomic assessment information providing patients with credible accurate appropriate and current genetic and genomic information resources services and Technologies recognizing when one’s own attitudes and values related to genetic and genomic science may affect care this is looking more into our implicit bias or even confirmation bias when it comes to genetics and nurses can facilitate referrals for specialized genetic and genomic services for patients as needed
Preconception counseling and testing
Neonatal genetic screening and testing
Palliative care for infants with life-threatening conditions
The identification and care of individuals with genetic conditions
Specialized care of women with genetic conditions during prengnacy
Nursing expertise in genetics and genomics
Congenital heart disease
Cystic fibrosis
Factor V Leiden
Specialized care of women with genetic conditions during prengnacy
Development from conception to birth of a normal healthy baby occurs without incident in most cases occasionally however anomalies in the genetic code of the embryo can create a birth defect or disorder
Chromosomal abnormalities
Multifactorial
Clinical genetics
These are major causes of reproductive loss congenital problems and gynecologic disorders so what that means is that if there is an error at the level of the genetic code during cell division from the very first days after conception then many times the pregnancy will not keep so you’ll end up with an early first trimester lost some of these losses can actually happen before a woman even realizes that she’s pregnant the incidence of abnormalities is approximately 0.6% in newborns 6% and still births and 60% and spontaneous abortions so what we’re saying here is that most of the time the spontaneous abortions/miscarriages are happening 60% of the time because there is a chromosomal abnormality that happens at the time of conception errors resulting in chromosomal abnormalities can occur in either mitosis or meiosis and they can occur in either the autosomes or the sex chromosomes small deviations in chromosomes can cause problems in fetal development
A major cause of reproductive loss, congenital problems, and gynecologic disorders
That when it comes to pregnancy loss and abnormalities and a lot of gynecologic conditions actually that it’s at the level of the DNA
Can occur during mitosis (somatic cell) or meiosis (sex cells)
Chromosomal abnormalities
Chromosome number: Down Syndrome
A single gene controlling a trait/disorder/defect
Sex chromosome abnormalities
Can occur during mitosis (somatic cell) or meiosis (sex cells)
Patterns of genetic transmission
Most common congenital malformations result from a multifactorial inheritance so this is a combination of genetic and environmental and so I listed for you a couple of examples and these can be mild to severe this can be when it comes to neural tube defects this could be something as spina bifida or it can be something as fatal as anencephaly so we’re looking at environmental factors when it comes to neural tube defects we’re looking at nutrition of the mother and that can absolutely affect fetal development women who drink women who smoke women who are exposed to chemicals so that’s what the environmental Factor comes into that paired with a genetic Factor can cause this list of conditions
Most common genetic malfunction
Combination of environmental and genetic factors
Multifactorial
Cleft lip and palate
Congenital heart disease
Neural tube defects
Pyloric stenosis
Combination of environmental and genetic factors
The goal of screening is to detect or Define risk for disease and low risk populations and identify those for whom diagnostic testing may be appropriate genetic counseling is a professional service that provides genetics information education and support individuals and families with ongoing or potential genetic health concerns regardless of the setting or the individuals and family stage of Life genetic counseling should be offered and available to all individuals and families who have questions about genetics and their health most families with the history of genetic disease won an answer to the following question what is the chance that our future children will have XYZ disease because the answer to this question may have profound implications for individual family members and the family as a Whole Health Care Professionals must be able to answer this question is accurately as they can in a timely manner
Standard practice in obstetrics
Goal is to identify risk
Genetic hx should be obtained using a questionnaire or checklist
Information
Education
Support
Genetic counseling
Not as an isolated event but as part of a sequential process
at ovulation the ovum is released from the ruptured ovarian follicle so when we go back and think about the menstrual cycle this is approximately mid cycle (difference depending on the length of a woman’s cycle as to which day she’s going to be ovulating) so when the ovum is erupts from the follicle the Cilia will capture that in the fallopian tubes because the egg cannot move on its own so it’s relying solely on the motility of the fallopian tube
Ova considered fertile for about 24 hours after ovulation so there’s a very finite period of time that the sperm can fertilize if it is not fertilized within about 24 hours of rupturing from the follicle the ovum will start to degenerate and be reabsorbed into the uterine tissue ejaculation during sexual intercourse normally propels about a teaspoon of semen containing as many as 200 to 500 million sperm into the vagina some sperm can reach the site of fertilization within 5 minutes; some sperm viable for about 2 to 3 days;
most sperm are lost in the vagina within the cervical mucus or in the endometrium or they enter the tube that contains no ovum
fertilization takes place in the ampulla: right inside the outer aspect of that fallopian tube in the in the ampulla
when the sperm successfully penetrates the membrane the membrane becomes impenetrable to any other sperm or anything else to get inside mitotic cellular replication called cleavage begins as the zygote travels the uterine tube into the uterus this is taking days from the time that the sperm penetrates the ovum to the time it actually gets out of the fallopian tube it has traveled into a safe place for item is taking absolute days at least three to four days
a solid ball of cells is produced within three days and you can see that and the figure there when the cavity becomes unracked the blastocyst cavity as we’re starting to continue to divide and divide the cavity becomes unrecognizable or the whole structure of the developing embryo is known as the blastocyst that’s it day four
Fertilization starts doing some cleavage and then marola and then some differentiation into a blastocyst before it implants approximately 6 days from the time that it’s fertilized the time it’s actually starting to implant into the endometrium is almost a week
Conception
Zona pellucida degenerates the trophoblast cells displays endometrial cells at the implantation site and the blast assist embeds in the endometrium so from the time that we have a blast assist the blastocyst is going to start to embed into that thick Rich endometrial tissue so think back to the menstrual cycle we’ve had that proliferative that secretive phase of the end where the thickness of the endometrium is at its peak that is where the that’s when the glass assist is going to embed and it’s usually in the anterior posterior funnel so towards the top half of the of the uterus between 6 and 10 days after conception the truth of blast secretes enzymes that enable it to burrow into that endometrium until the entire blast is covered this is implantation chorionic villi develop out of the trophoblast extend into the blood-filled spaces of the endometrium these Villi are vascular processes that obtain oxygen and nutrients from the maternal bloodstream after implantation the endometrium is called the decidua the portion directly under the glasses where the chorionic villi tap into the maternal blood vessels is the decidua solace
Endometrium - becomes thick and vascular
Decidua - after implantation
Morula and blastocyst develops the trophoblast which ultimately becomes the chorion
This layer produces pregnancy hormone HCG. HCG is what causes a pregnancy test to be in both serum and urine
Chronic villi develop out of the trophoblast and extend into the blood - filled spaces of the endometrium (very vascular and rich in glycogen)
Process of implantation
Special area of blastocyte called the trophoblasts make contact with the endometrium
Maternal side of placenta develops
Decidua - after implantation
3 stages
Ovum or preembryonic stage
Embryonic stage
Fetal stage
Intrauterine development
The pre embryonic stage is the period of time that covers cellular replication blastocyst formation the initial development of the embryonic membranes and establishment of that primary germ layer
Conception - 14 days
Ovum or preembryonic stage
Lasts from day 15 until approximately 10 weeks gestational age; 8 weeks gestation
Most critical time - teratogens
When the embryo measures approximately 3 cm from Crown to rump this is the most critical time in the development of organ systems and the external features of the embryo
Embryonic stage
Lasts from 9-10 weeks (can see human being) until delivery
Changes are not as dramatic because refinement of structure and function is taking place the fetus is less vulnerable to protogens except for those that affect the central nervous system functioning that can affect strategies can affect the central nervous system the entire pregnancy
Fetal stage
Amniotic fluid
Yolk sac
Umbilical cord
Placenta
Fetal maturation
Multifetal pregnancy
Embryo and fetus
Serves numerous functions
Volume is important to fetal well-being
Amniotic fluid
Becomes primitive digestive sys
When the amniotic cavity and amnion are forming another blast is his cavity forms on the other side of the developing embryonic disk this cavity becomes surrounded by a membrane forming the yolk Sac the yolk sack aids in transferring maternal nutrients and oxygen now it does obviously doesn’t persist for the whole pregnancy it’s just early on in that first trimester
Yolk sac
Supplies the embryo with maternal nutrients and oxygen
by day 14 after conception the embryonic disc the amniotic sac and the yolk sack are attached back to the chorionic villi by the connecting stock so from the chorionic villi the umbilical cord arises that chorionic villi is going to go on to become the placenta itself is composed of two arteries that carry blood from the embryo to the chorionic Bell ire placenta later on and one vein which returns blood to the embryo so the two arteries are smaller in diameter and have a little bit of a different texture to them and then the vein is much larger than the two arteries cuz it’s what’s giving the blood to the embryo now on occasion a very rare occasion an umbilical cord could have only two they only have two vessels one artery and one vein children that are born with a two vessel cord are thoroughly assessed many times those are associated with congenital malformation somewhere within the child this cord rapidly increases in length and by the time the pregnancy comes to term the cord can be anywhere from 30 to 90 cm in length so hence the the jump rope it twists spirally on itself and it loops around the embryo and fetus there’s connective tissue called Wharton’s jelly that is that surrounds those vessels to help with compression of the blood vessels and to ensure continued nourishment for the embryo and fetus
Because the placenta develops from this chorionic villi the umbilical cord is usually centrally located within the placenta
Umbilical cord
The placenta begins to form an implantation during the third week after conception the trophoblast cells of the chorionic villi continue to invade the decidua the Silas as a uterine capillaries are tapped the endometrial spiral arteries fill with maternal blood the chorionic villi grow into the spaces with two layers of cells the outer syntium and the inner cytotrophoblast a third layer develops into anchoring SEPTA dividing the projecting decidua into separate areas of the placenta there is typically anywhere from 15 to 20 of these functional units the maternal placental embryonic circulation is in place
by day 17 after conception when the embryonic heart starts beating
Structure
Func
Placenta
Maternal-placental-embryonic circulation by day 17
Functional unit placenta divided into 15-20 cotyledons
Structure - Placenta
early functions of the placenta is an endocrine gland: it produces four hormones necessary to maintain a pregnancy in the in the placenta the first one would be human chorionic gonadotropin HCG; another one is called human chorionic somatomotropin or human placental lactogen this substance is similar to a growth hormone and stimulates maternal metabolism to supply needed nutrients for fetal growth; progesterone which maintains the endometrium and decreases contractility of the uterus and stimulates maternal metabolism and development of the breast; estrogen stimulates uterine growth and utero placental blood flow it causes proliferation of the breast glandular tissue and stimulates myometrial contractility
placenta functions are respiration nutrition excretion and storage oxygen diffuses from the maternal blood into the fetal blood carbohydrates proteins calcium and iron are all stored in the placenta for ready access to meet the fetal needs
the fetal concentration of glucose is lower than the glucose level and the maternal blood because of its rapid metabolism by the fetus therefore maternal glucose moves into the fetal circulation by active transport
Mom excrete waste for both of them through kidneys
Endocrine gland (HCG, human placental lactogen and estrogen)
Metabolic func and waste
Nutrient storage
Func - Placenta