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107 ch. 8
Genetics, conception, fetal development
| Question | Answer |
|---|---|
| what is genetics? what is genomics? | study of single genes and effects study of fx and interactions of all genes in genome |
| 62% of all miscarriages are caused by what | chromosome abnormalities |
| Tay-Sachs disease is most found in what ethnic groups | jews, french canadians, cajuns, amish |
| B-thalassemia found in which ethnic groups | meditteranean, middle eastern, transcasus, central asian, indian, far eastern |
| sickle cell anemia is found in which ethnic groups | african american |
| a-thalassemia is found in which ethnic groups | southeast asia, south china, phillipine islands, thailand, greece, cyprus |
| NTD's found in ethnic groups | irish, scots, welsh |
| PKU found in which group | irish, scots, scandinavian, icelanders, polish |
| CF found in which group | caucasians, jews, hispanics |
| what is occurence risk? what is recurrence risk? | Occurence: couple at risk for having children and have genetic disease Recurrence: couple has 1 or more children with genetic disease |
| What is autosomal dominant disorder | occurence and recurrence risk is 50% |
| what is risk for autosomal recessive disorder | 25% |
| what is important nursing role in genetics counseling | reinforcing info fam been given and interpret info on level of understanding. |
| what is meant by chance has no memory | each preg is independent event and if risk is 1 in 4 for one child, it's 1 in 4 for each preg. Multifactorial disorder, risk incr |
| how many pairs of DNA are in human genome | 3 billion pairs |
| what were two finding of Human Genome Project | 1. all humans 99.9% identical at DNA level 2. 20-25,000 genes make up human genome 3. humans produce like 3 proteins per gene |
| what is major goal of pharmacogenetics | reduce adverse drug reactions |
| Describe make up of DNA, chromosomes and genes | strand of pearls - DNA string = chromosomes pears - genes |
| How many chromosomes in body | 46 chromosomes in 23 pairs 22 pairs of autosomes- most traits in body 1 pair of sex chromosomes: XX/female, XY/male |
| what are alleles | |
| what is dif bn genotype and phenotype | genotype- genetic make up of whole person, pass on to future phenotype- observable, physical features |
| what is X-inactivation or Lyon hypothesis | whichever gene on X chromosome determines trait expressed. Females have 2X, so only 1 is fxing |
| what is a karyotype | pictorial analysis of number, form, size of ind. chromosomes, largest to smallest, 1-22, sex has letter (x/y), divided in short arm or long arm |
| what is most common id'd chromosome abnormality in humans | aneuploidy, leading cause of pregnancy loss adn mental retardation. |
| what are two most common aneuploidy conditions | monosomy: union of normal gamete and gamete that's missing chromosome(45), dies. trisomies: normal and extra chromosome(47), maternal meiosis error, Down syndrome, trisomy 21 |
| what are other types of structural abnormalities | translocation, duplication, deletion, microdeletion, inversion |
| what is most common sex chromosome abnormals in females | Females: Turner syndrome- webbing of neck, short, lymphedema of hands/feet, low intelligence |
| what is most common sex chromosome abnormals in males | Males: Klinefelter's syndrome, small sex charateristics, small testes, infertile, tall, effeminate, slow |
| what is multifactoria inheritance? what is unifactorial inheritance? | multi: combo of genetic and environment Uni: single gene controls |
| what is autosomal dominant inheritance | only one copy of allele is needed for phenotypic expression. Occurs for first time in fam. |
| what is autosomal recessive inheritance | both genes of a pair must be abnormal for disorder to be expressed. sickle cell, taks, CF |
| what are X linked dominant inheritance | occur in males and heterozygous females, Vit D-resistant rickets and fragile X syndrome |
| what are X linked recessive inheritance | carried on X chromosome. Females are heterozygous becuase have 2 X's. Males are hemizygous cause have 1 X, so most often males. Hemophilia, color blindness, Duchenne MS |
| what is congenital | condition present at birth |
| What is mitosis? what is meiosis? | mitosis: cells replicate to make two identical cells as parent meiosis: germ cells divide and decr chromosome number by half, produce egg/sperm form haploid, unite is diploid and zygote(first cell of new ind.) |
| what is oogenesis | egg, ovum, formation, begins during fetal life of female. Cells needed contained in ovaries at birth. Only 400-500 mature one matures monthly and creates primary oocyte and sm. polar body. Both contain 22 chromosomes and one X |
| What is spermatocytes | undergo meiosis in male who begins spermatogenesis at puberty. During secondary meiotic division, two gametes with X, two wtih Y to dev into sperm |
| what is sequential process of conception | gamete(egg/sperm) formation, ovulation(release of egg), union of gametes(embryo), implantation in uterus |
| where does meiosis occur in females | in ovarian follicles adn produce ovum. Ova fertile for 24 hours after ovulation |
| what are two protective layers of ovum | inner: zona pellucida, thick outer: corona radiata, elongated cells |
| what is travel time for sperm? what is capacitation? | 5min, or 4-6hrs and viable in woman for 2-3 days Capacitation: remove protective coating from head of sperm(acrosome). |
| Where does fertilization take place | in Ampulla (outer third) of uterine tube |
| what is zona reaction | membrane of ovum becomes impenetrable to other sperm |
| what is cleavage | mitotic cellular replication begins as zygote travels length of uterine tube into uterus - 3-4 days. Morula, solid ball of cells, forms and travels |
| what are two parts that are separated by fluid in morula | trophoblast(placenta) and embryoblast(embryo) Eventually form blastocyst |
| where does blastocyst embed in endometrium | fundal region |
| after implantation, what do the chorionic villi do | fingerlike projections develop out of trophoblast, extend into blood to get O2, nutrients from mom and release CO2 and waste. |
| Pregnancy is tracked how long | 10 lunar months, 9 calendar months, 40 weeks, 280 days. Calculated from LMP, last mentrual period |
| what are three states of intrauterine development | ovum or preembryonic, embryo, fetus |
| embryonic disk after 3rd week moves into three priamry germ layers | 1. ectoderm- epidermis, outer 2. mesoderm- bones/teeth, musles, cardiovascular system, spleen, urogenital 3. endoderm- respiratory/digestive, roof of yolk sac |
| what is critical in embryonic stage | most critical time in dev. of organ systems adn main ext features. |
| what are two membranes that form adn what do they do at time of implantation | chorion: fetal side covering of placenta (shiny shultz) amnion: inner cell membrane that become amniotic sac. |
| what fx does amniotic fluid perform? | maintain constant body temp, oral fluid, repository for waste, cushions fetus, allows mvmt. |
| what is importance of volume of amniotic fluid | <300ml(oligohydramnios)- abnormals >2L(hydroamnios)- gastro and other malformations |
| what is fx of yolk sac | transfer mom nutrients adn O2, hematapoesis here. Gets folded into digestive system |
| In the umbilical cord, how many aa and vv and what carries what? | 2aa carry deoxygenated blood from fetus 1vv carries oxygenated blood to fetus Heart starts beating at day 17 |
| what is nuchal cord | cord wrapped @ fetal neck |
| what is early fx of placenta | endocrine gland to produce 4 hormones: hCG(tells pregnant), hCS- growth of fetus Progesterone, estrogen(estriol) |
| what does progesterone do by placenta | maintains endometrium, decr contractility of uterus, stimulates dev of breast alveoli, maternal metabolism |
| what does estrogen do by placenta | stimulates uterine growth and uteroplacental blood flow, reason for onset of labor |
| what is metabolic fx of placenta | respiration- O2/Co2 diffuses from mom nutrition-stored in placenta excretion storage |
| what is viability | capability of fetus to survive outside of uterus. Now at 20wks based on CNS fx and lungs |
| what conditions accelerate fetal lung maturity | hypertension, placental dysfx, infection, corticosteroids |
| what conditions retard fetal lung maturity | gestational diabetes, chronic glomerulonephritis |
| what is first system to form in fetus | cardiovascular system. Blood vessel and cell start in 3rd wk |
| what is in fetus that allows resp gas exchange | ductus arteriosus |
| what is blood flow to fetus of oxygenated blood | O2 to fetus via vein, at liver, divides into 2. Some goes to liver adn rest thru ductus venosus into inf. vena cava. Mix wtih deO2 from legs thru rt atrium thru foramen ovale into lf atrium. Lf vent to head give O2 |
| what is return of DeO2 blood from fetus to mom | DeO2 from head of fetus to rt atrium thru sup. vena cava. Go to rt vent to pul. aa. Some goes to lung tissue, but most goes thru ductus arteriosus into abd aorta to iliac aa to umb aa to placenta |
| Newborn kidneys are | low glomerular filtration rate, vulnerable to overhydration and dehydration |
| Which immunoglobulin is present that crosses placenta by 3rd tri | IgG, provides passive acquired immunity to bacterial toxins |
| what is diff in dizygotic and monozygotic twins? | monozygotic - identical, 1 egg, placenta dizygotic - fraternal, 2eggs, 2 sperm, 2 placenta |
Created by:
palmerag
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