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Chapter 3 Genetics, Conception, Fetal Development, and Reproductive Technology

Terms in this set (98)

what part of the mother's body will the fetus match?
the mother's pelvis
what are autosomal disorders that occur when you have one defective gene and can pass the disorder on to a child but you, yourself do not have the disorder?
autosomal-recessive disorders
cystic fibrosis, sickle cell anemia, thalassemia, and tay-sachs disease are all examples of what autosomal disorders?
autosomal-recessive disorders
what type of autosomal disorder is present when one or both genes in a pair carries the defect?
autosomal-dominant disorder
huntington's disease is an example of what kind of autosomal disorder?
autosomal-dominant disorder
female children who have one X chromosome with a sex-linked trait disorder do not present with the trait but...
are carriers of the trait
male children Who receive an X chromosome with a mutated gene present with the disorder when the Y chromosome does not carry the gene, so the gene becomes
dominant
what is the only way Y-linked inherited diseases can be passed on?
from father to son
what is the most common genetic disease among people of African ancestry?
sickle cell anemia
what disease is characterized as sick-cell hemoglobin forms rigid crystals that distort and disrupt red blood cells; oxygen-carrying capacity of the blood is diminished?
sickle cell anemia
what is the most common genetic disease among people of European ancestry?
cystic fibrosis
what disease is characterized as the production of thick mucous clogs in bronchial tree and pancreatic ducts; most severe effects of chronic respiratory infections and pulmonary failure?
cystic fibrosis
what disease is the most common genetic disease among people of jewish ancestry?
tay-sachs disease
what disease is characterized as the degeneration of neurons and the nervous system results in death by age of 2 years?
tay-sachs disease
what disease is characterized by the lack of enzyme to metabolize the amino acid phenylalanine leads to severe mental and physical retardation (these effects may be prevented by the use of a diet (beginning at birth) that limits phenylalanine)?
phenylketonuria
what disease is characterized by the uncontrollable muscle contractions between ages of 30 and 50 years, followed by loss of memory and personality?
huntington disease
what disease is characterized by the lack of factor VIII impairs chemical clotting and may be controlled with the factor VIII from donated blood?
hemophilia
what disease is characterized by the replacement of muscle by adipose or scar tissue with progressive loss of muscle function; often fatal before 20 years due to involvement of cardiac muscle?
duchenne's muscular dystrophy
what defines genomic medicine as an emerging medical discipline that involves using genomic information about an individual as part of their clinical care and the health outcomes and policy implications of that clinical use?
The National Human Genome Research Institute
what is used to identify individuals who carry one copy of a gene mutation when there is a family history of a genetic disorder?
carrier testing
what is used to detect genetic changes in embryos created using assisted reproductive techniques?
preimplantation testing
what is used for early detection of genetic disorders such as trisomy 21, hemophilia, and Tay-Sachs disease?
prenatal testing
what is used to detect genetic disorders that can be treated early in life?
newborn screening
maternal age over 35, history of previous pregnancies resulting in genetic disorder, and a family history are all risks that can result is what?
genetic disorders
the developing human is most vulnerable to the effects of teratogens during the period of what?
organogenesis; the first 8 weeks of gestation
exposure to teratogens after 13 weeks of gestation may cause what?
fetal growth restriction or reduction of organ size
what are drugs, viruses, infections, or other exposures that have the potential to cause embryonic fetal developmental abnormality?
teratogens
these newborn characteristics are specific to what syndrome: low birth weight, microcephaly, mental retardation, cardiac defects?
fetal alcohol syndrome
what is influenced by the ovarian cycle and endometrial cycle?
menstrual cycle
what pertains to the maturation of the ova and consists of three phases?
ovarian cycle
what are the three phases of the ovarian cycle?
follicular, ovulatory, and luteal
which ovarian cycle phase begins the first day of menstruation and lasts 12-14 days?
follicular phase
What does the Graafian follicle produce?
estrogen
during what ovarian cycle phase does the graafian follicle mature under the influence of two pituitary glands?
follicular phase
what two pituitary hormones influence the maturation of the graafian follicle during the follicular phase?
luteinizing and follicle stimulating hormone
what ovarian cycle phase begins when estrogen levels peak and ends with the release of the oocyte (egg) from the mature graafian follicle?
ovulatory phase
what is it called when there is a release of the oocyte from the mature graafian follicle?
ovulation
before the surge of ovulation in the ovulatory phase, does estrogen and progesterone increase or decrease?
estrogen levels decrease, progesterone levels increase
which ovarian cycle phase begins after ovulation and lasts approximately 14 days?
luteal phase
During which ovarian cycle phase does the cells of the empty follicle morph to form the corpus luteum, which produces high levels of progesterone and low levels of estrogen?
luteal phase
during the luteal phase, if pregnancy occurs, the corpus luteum releases which hormones until the placenta matures enough to assume function?
estrogen and progesterone
if pregnancy does not occur during the luteal phase, the corpus luteum degenerates, resulting in a decrease in progesterone and the beginning of what?
menstruation
what cycle pertains to the changes in the endometrium of the uterus in response to the hormonal changes that occur during the ovarian cycle?
endometrial cycle
what phase occurs following menstruation and ends with ovulation?
proliferative phase
endometrium prepares for implantation by becoming thicker and more vascular in response to the increasing levels of estrogen produced by graafian follicle in which phase?
proliferative phase
which phase begins after ovulation and ends with the onset of menstruation?
secretory phase
which phase occurs in response to hormonal changes and results in the sloughing off/expulsion of endometrial tissue?
menstrual phase
the primary hormone during the secretory phase is progesterone secreted from what?
the corpus luteum
corpus luteum and endometrium degrades during the secretory phase if what?
if pregnancy does not occur
the endometrium continues to thicken and develop as well as begins to secrete glycogen if what ?
if pregnancy occurs
what is the energy source of blastocysts during implantation?
glycogen
what is the formation of a mature ovum and is regulated by FSH and estrogen?
oogenesis
FSH stimulates the growth of what containing an oogonium (during the oogenesis process)?
the ovarian follicle
what two daughter cells does the oogonium within the ovary form through mitosis (during the process of oogenesis)?
primary oocyte and a new stem cell
through meiosis, the primary oocyte form into what (during the process of oogenesis)?
the secondary oocyte and a polar body
what is the formation of sperm, regulated by FSH, LH, and testosterone?
spermatogenesis
what is another word for fertilization?
conception
what occurs when a sperm nucleus enters the nucleus of the oocyte?
conception/fertilization
where does fertilization normally occur?
outer third of the fallopian tube
a fertilized oocyte is known as what?
zygote
how many chromosomes does a zygote contain?
diploid number of (46)
ovulatory dysfunction caused by hormonal imbalances, hyperthyroidism and high prolactin levels, tubal and pelvic pathology factors; damage to fallopian tubes and uterine fibroids, cervical mucus factors including infection and cervical surgeries such as cryotherapy can all be the causative factors of what?
female infertility
intercourse disorders, blocked or missing sperm transport factors, immune responses that cause a decrease in sperm, gonadotoxins, and endocrine causes that decrease sperm production are all causative factors of what?
male infertility
what is the inability to conceive/maintain pregnancy after 12 months of unprotected sex?
infertility
what connects the fetus to the placenta and consists of two umbilical arteries and one umbilical vein?
umbilical cord
what surrounds the umbilical cord that is made from a collagenous substance that protects the vessels from compression?
whartons jelly
after giving birth, why should the number of vessels in the umbilical cord should be assessed ?
because newborns with only two vessels have a 20% chance of having a cardiac or vascular defect
what are formed by the amniotic and chorionic membranes?
embryonic membranes
what is the inner membrane and develops from the trophoblast; containing the embryo and amniotic fluid?
amniotic membrane
what develops the embryoblast?
chorionic membrane
what helps maintain a sterile environment by forming a barrier that prevents bacteria from entering the amniotic fluid through the vagina?
embryonic membrane
what is mainly composed of water but also contains proteins, carbohydrates, lipids, electrolytes, fetal cells, lanugo, and vernix caseosa?
amniotic fluid
in which trimester is the amniotic fluid produced by the amniotic membrane?
first trimester
in which trimester is amniotic fluid produced by the fetal kidneys?
second and third trimester
amniotic fluids peaks to how many mL around 34 weeks gestation and decreases to how many mL at term?
34 weeks: 800-1000 mL
at term: 500-600 mL
what term is used for the decrease in amniotic fluid (usually related to a decrease in placental function and can cause congenital renal problems)?
oligohydramnios
what term is used for an excess of amniotic fluid (can increase the incidence of chromosomal disorders and GI, cardiac, and neural tube disorders)?
polyhydramnios/hydramnios
what cushions the fetus from sudden maternal movements, prevents the developing human from adhering to the amniotic membrane, allows freedom of fetal movement which aids in symmetrical musculoskeletal development and provides a thermal environment?
amniotic fluid
what develops from the trophoblast, along with the chorionic villi, forming the fetal side of the placenta?
the chorionic membrane
what forms the fetal blood vessels of the placenta?
the chorionic villi
what is referred to as the decidua and consists of three layers called the decidua basalis. decidua capsularis, and decidua vera?
the endometrium
the portion directly beneath the blastocyst, forming the maternal portion of the placenta is known as what layer of the endometrium?
decidua basalis
the maternal side of the placenta is divided into lobules known as what?
cotyledons
the developing human is referred to as what from the time of implantation through 8 weeks of gestation?
embryo
what is the formation and development of body organs, occurring during the time of the embryo development?
organogenesis
primary germ layers that form the organs, tissues, and body structures of the developing human are known as what?
ectoderm, mesoderm, and endoderm
what is the outer, middle and inner germ layer?
ectoderm, mesoderm, endoderm
when does the germ layers start to develop?
around day 14
what week does the heart form and when does it begin to beat/circulate blood?
heart forma around 3rd week of gestation while starting to beat/circulate blood around the 4th week of gestation
by what week is the primary germ layers transformed into a clearly defined human with all organ systems?
8 weeks gestation
what forms the epidermis, hair and nail follicles and sweat glands; the nervous system, lens and cornea, and the mucosa of oral and nasal cavities?
ectoderm
what forms the dermis; bone and cartilage; skeletal muscles, cardiac muscles, smooth muscles, kidneys, bone marrow and blood?
mesoderm
what forms the mucosa of esophagus, stomach, and intestines, epithelium of respiratory tract, liver and mucosa of gallbladder, thyroid gland and pancreas?
endoderm
oxygenated blood enters the fetal circulatory system from the placenta via the umbilical cord during what weeks gestation?
9
what connects the umbilical vein to the inferior vena cava, allowing the majority of the highly oxygenated blood to enter the right atrium?
ductus venosus
what is an opening between the right and left atria (blood high in O2 is shunted to the left atrium and after delivery, the it closes in response to increased blood returning to the left atrium. It may take up to 3 months for full closure)?
foramen ovale
what connects the pulmonary artery with the descending aorta (the majority of oxygenated blood is shunted to the aorta through this with smaller amounts going to the lungs)?
ductus arteriosus
begins around day 5/6 and is the embedding of the blastocyst into the endometrium of the uterus. Progesterone stimulates the endometrium to become thicker and more vascular; enzymes secreted by the trophoblast, now referred to as the chorion, digest the surface of the endometrium.. what is this process?
implantation
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