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Development, Pregnancy, and Heredity
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Overview of the Prenatal Period
Begins with fertilization Secondary oocyte and sperm unite Ends 38 weeks later with birth Composed of three shorter periods Pre-embryonic period Embryonic period Fetal period
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Prenatal period (continued)
Pre-embryonic period First 2 weeks after fertilization Zygote, cell produced by fertilization, becomes spherical multicellular structure blastocyst Ends when blastocyst implants in uterine lining
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Prenatal period (continued)
Embryonic period 3rd through 8th weeks of development Rudimentary versions of major organs appear Now called an embryo Fetal period Remaining 30 weeks prior to birth Organism is now called a fetus Continues to grow and increase in complexity Embryogenesis, developmental period of pre-embryonic and embryonic periods
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Figure 29.1
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Fertilization Fertilization Two gametes fuse to form new diploid cell
Contains genetic material derived from both parents Restores diploid number of chromosomes Determines the sex of the organism Initiates cleavage Occurs in widest part of uterine tube, ampulla Oocyte viable for 24 hours following ovulation Sperm remain viable for 3 to 4 days
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Capacitation Physiological conditioning undergone by sperm to become capable of fertilizing the secondary oocyte Occurs in female reproductive tract Glycoprotein coat and some proteins Removed from sperm plasma membrane Lasts several hours
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Sperm Millions deposited in vagina during intercourse
Few hundred with a chance at fertilization Attracted to oocyte by chemicals it releases Bound by progesterone released by cumulus cells around oocyte Causes influx of Ca2+ Necessary for capacitation, acrosome reaction, fertilization Attempt fertilization when reaching secondary oocyte Only one sperm able to fertilize
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Corona radiata penetration
First phase of fertilization Sperm reaching secondary oocyte Initially prevented entry by corona radiata and zona pellucida
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Zona pellucida penetration
Acrosome reaction Release of digestive enzymes from acrosomes Allows sperm to penetrate zona pellucida After penetration of secondary oocyte Immediate hardening of zona pellucida Prevents other sperm from entering this layer Ensures only one sperm fertilizes the oocyte Polyspermy, if two sperm enter simultaneously Immediately fatal with 23 triplets of chromosomes
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Fusion of sperm and oocyte plasma membranes and fusion of sperm and ovum pronuclei
Contact of sperm and oocyte plasma membranes Immediately fuse Only sperm nucleus enters oocyte Secondary oocyte completing second meiotic division Forms an ovum Nucleus of sperm and ovum, pronuclei Each with haploid number of chromosomes Fuse to become diploid nucleus Zygote, the single diploid cell formed
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Cleavage Cleavage Series of mitotic divisions of zygote
Increases cell number but not overall size of structure Size only increases after implantation in uterine wall Before 8-cell stage Cells not tightly bound together Become tightly compacted after third cleavage divisions Compaction, process by which contact between cells is increased to the max
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Cleavage (continued) Morula, 16-cell stage
Cells of morula continue to divide Develops fluid-filled cavity, blastocyst cavity At this stage, pre-embryo is a blastocyst Trophoblast, outer ring of cells surrounding cavity Will form the chorion Embryoblast, packed cells within one side of blastocyst Will form embryo proper Cells pluripotent, able to develop into any tissue
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Cleavage in the Pre-Embryo
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Implantation Implantation steps
Blastocyst enters lumen of uterus by end of first week Zona pellucida around blastocyst breaks down Blastocyst burrows into the endometrium, implantation Begins by about day 7 Trophoblast subdividing into 2 layers Cytotrophoblast, inner layer Syncytiotrophoblast, outer layer By day 9, blastocyst completely burrowed into uterine wall Contacts nutrients in uterine glands
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Human chorionic gonadotropin (hCG)
Produced by syncytiotrophoblast Signals reproductive system that implantation occurred Promotes maintenance of corpus luteum Produces estrogen and progesterone to build uterine lining Detected in urine by end of 2nd week Basis of most pregnancy tests Levels high for first 3 months of pregnancy Then decline, causing corpus luteum degeneration By then placenta producing own estrogen to maintain pregnancy
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Hormone Levels During Pregnancy
Figure 29.6
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Formation of the Bilaminar Germinal Disc and Extraembryonic Membranes
Changes to embryoblast By day 8 Cells of embryoblast starting to form two layers Hypoblast layer adjacent to blastocyst cavity Epiblast layer adjacent to amniotic cavity Together form flat disc, bilaminar germinal disc
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Extraembryonic membranes
Formed by bilaminar germinal disc and trophoblast Mediate between them and environment Protects embryo Assist in nutrition, gas exchange, and removal of waste Yolk sac 1st extraembryonic membrane to develop Continuous with hypoblast layer Does not store yolk (as it does in birds and reptiles) Important site for early blood cell and blood vessel formation
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Extraembryonic membranes (continued)
Amnion Membrane continuous with epiblast layer Eventually encloses entire embryo in fluid-filled sac, amniotic cavity Protects membrane from drying out Specialized to secrete amniotic fluid bathing embryo
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Extraembryonic membranes (continued)
Chorion Outermost extraembryonic membrane Formed from cytotrophoblast cells and syncytiotrophoblast Cells blend with functional layer of endometrium Eventually form placenta Site of nutrient exchange between embryo and mother
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Development of the Placenta
Highly vascular structure Functions: Site of exchange of nutrients, wastes, and respiratory gases between maternal and fetal blood Transmits maternal antibodies to developing embryo or fetus Produces estrogen and progesterone Maintains and builds the uterine lining Begins to form during 2nd week
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Placental components Fetal portion developing from chorion
Maternal portion from functional layer of uterus Connecting stalk Connects early embryo to placenta Eventually contains umbilical arteries and veins Precursor to future umbilical cord
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Placental components (continued)
Chorionic villi Fingerlike structures formed from chorion Contain branches of umbilical vessels Gas and nutrient exchange Functional layer of endometrium with maternal blood vessels Maternal blood does not mix with fetal blood Bloodstreams so close that nutrients and gases mix O2 diffusing from maternal blood to fetal blood CO2 diffusing from fetal to maternal blood
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Placental characteristics
Most growth during fetal period Adheres firmly to wall of uterus Expelled from uterus after the baby is born Afterbirth Selectively permeable structure E.g., respiratory gases passing freely Microorganisms and certain maternal hormones prevented
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Placental characteristics (continued)
Some harmful substances able to cross E.g., viruses, bacteria, drugs, alcohol, toxins May cause birth defects or death Dose and timing affecting fetus susceptibility Pregnant women urged to quit smoking, refrain from taking drugs and drinking alcohol
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Gastrulation Critical period of development; occurs during third week
Epiblast forms three primary germ layers Cells from which all body tissues develop Ectoderm, mesoderm, endoderm Three-layered structure called an embryo
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Gastrulation and Formation of the Primary Germ Layers
Gastrulation (continued) Begins with formation of primitive streak Thin depression on surface of epiblast Primitive node Cephalic end of streak Consists of elevated area surrounding small primitive pit Invagination Cells detaching from epiblast layer Migrate through primitive streak between epiblast and hypoblast layer
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Gastrulation (continued)
Epiblast, source of 3 primary germ layers All body tissues and organs derived from these layers Endoderm Epiblast cells that displace hypoblast Mesoderm New primary germ layer of cells formed by epiblast cells Ectoderm Cells remaining in epiblast
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The Role of the Primitive Streak In Gastrulation: Early Week 3, Superolateral View
Figure 29.8a
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Differentiation of ectoderm
On external surface of cylindrical embryo Responsible for forming nervous system tissue Neurulation Forms Epidermis, sense organs, pituitary gland, adrenal medulla, enamel of teeth, lens of eye
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Differentiation of Mesoderm
Figure 29.12
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Differentiation of mesoderm Five categories of mesoderm
Notochord Formed by tightly packed midline group of mesodermal cells Basis for central body axis and axial skeleton Induces formation of neural tube Paraxial mesoderm Found on both sides of neural tube Forms somites, blocklike masses Forms axial skeleton, muscle, and cartilage, dermis, and connective tissues
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Differentiation of mesoderm (continued)
Intermediate mesoderm Lateral to paraxial mesoderm Forms most of kidneys, ureters, and reproductive system Lateral plate mesoderm Most lateral layers of mesoderm Forms spleen, adrenal cortex, and cardiovascular system Serous membranes and connective tissue of limbs Head mesenchyme Forms connective tissues and musculature of face
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Differentiation of endoderm
Becomes innermost tissue after transverse folding Forms Linings of GI, respiratory, urinary, and reproductive tracts Tympanic cavity, auditory tube Liver, gallbladder, pancreas, palatine tonsils, thyroid and parathyroid glands, thymus
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Organogenesis Organogenesis Organ development
Begins once layers have formed and folding complete By week 8 Upper/lower limbs have adult shape and most organ systems have rudimentary form Particularly sensitive to teratogens during this time Substances causing birth defects or death Include: alcohol, tobacco, drugs, and some viruses
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Organogenesis (continued)
“Peak development” periods at different times Teratogens most dangerous during peak development of particular system
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Fetal Period Fetal period From beginning of 3rd month to birth
Maturation of tissues and organs Rapid growth of body Weight increase most striking during last two months
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The Course of Pregnancy
Pregnancy divided into trimesters First trimester First 3 months of pregnancy Zygote becoming embryo and then early fetus Second trimester Months 4 to 6 of pregnancy Growth of fetus and expansion of maternal tissues Third trimester Months 7 to 9 of pregnancy Fetus growing most rapidly Mother’s body preparing for labor and delivery
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Hormonal Changes Estrogen and progesterone
Produced by corpus luteum during first trimester Mostly produced by placenta in 2nd, 3rd trimesters High levels suppressing FSH and LH secretion Ovarian cycle and follicular development arrested Facilitate Uterine enlargement, mammary gland enlargement, and fetal growth Faster-growing nails, fuller hair Relaxation of ligamentous joints Uterus functional layer growth due to progesterone
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Corticotropin-releasing hormone (CRH)
Relaxin Secreted by corpus luteum and placenta Promotes blood vessel growth in uterus Corticotropin-releasing hormone (CRH) Secreted from placenta in large amounts Role in length of pregnancy and timing of childbirth Responsible for aldosterone rise in mother Promotes fluid retention and edema
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Human chorionic thyrotropin (HCT)
Secreted by placenta Stimulates the thyroid gland Increases woman’s metabolic rate Human placental lactogen (HPL) Secreted from placenta Affects how pregnant woman metabolizes certain nutrients Mother metabolizing more fatty acids instead of glucose Inhibits effects of insulin; more glucose available for fetus
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Prolactin Increased levels (10x) produced by anterior pituitary Ensures lactation occurs after giving birth Oxytocin Increased levels produced by hypothalamus Involved in uterine contractions Involved in milk expulsion from mammary glands Increase in second and third trimesters In response to rising estrogen levels
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Uterine and Mammary Gland Changes
Uterine expansion Begins to enlarge once implantation occurs By 12 weeks Uterus just superior to pubic symphysis Impinges on space of urinary bladder Causes more frequent urination Especially during first and third trimesters Most of enlargement due to Muscle hypertrophy, hyperplasia, placental growth, and amniotic fluid
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Uterine and Mammary Gland Changes
Mammary glands Tender during first trimester Due to increasing levels of estrogen and progesterone Melanocyte-stimulating hormone Secreted by placenta Darkening of areola and nipples Darkens linea alba, now linea nigra Growth of mammary glandular tissue
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Initiation of True Labor
True labor: uterine contractions that increase in intensity and regularity, result in changes to the cervix Mother’s hypothalamus secrets increasing levels of oxytocin Fetus’s hypothalamus also secreting oxytocin Both sources stimulate placenta to secrete prostaglandins Fatty acids and hormonelike substances Stimulate uterine muscle contraction Soften and dilate the cervix Combined maternal and fetal oxytocin initiates true labor
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Characteristics of true labor
Increase in frequency over time Increase in intensity as labor progresses Pain radiating from upper abdomen to lower back Pain not going away in response to movement Contractions facilitate cervical dilation and expulsion of fetus/placenta
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False labor: uterine contractions not resulting in 3 stages of labor
Braxton-Hicks contractions Irregularly spaced and do not become more frequent Relatively weak and do not increase in intensity Pain limited to lower abdomen and pelvic region Pain sometimes stops with movement Do not lead to cervical changes
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Stages of True Labor Dilation stage 1st stage of labor
Begins with onset of regular uterine contractions Ends when cervix is effaced (thinned) and dilated to 10 cm Longest of 3 stages Greatest variability Nulliparous women (who have not given birth) experience longer dilation stage, 8 to 24 hours Parous women (who have given birth) may be in this stage for 4 to 12 hours
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Dilation stage (continued)
Starts with regularly spaced uterine contractions Increases in intensity and frequency Baby’s head against cervix causes effacing and dilation Rupture of amniotic sac and release of amniotic fluid “Water breaking” Manually ruptured if necessary
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Stages of True Labor and Childbirth: Dilation Stage
Figure 29.15a,b
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Expulsion stage Begins with complete dilation of cervix
Ends with expulsion of fetus Usually 30 min to several hours Nulliparous women with longer stage Uterine contractions help push fetus through vagina Facilitated if woman “bears down” Uses Valsalva maneuver to increase abdominal pressure
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Expulsion stage (continued)
Crowning When first part of baby’s head distends vagina Head followed by rest of the body Episiotomy sometimes necessary Perineal muscles surgically incised Creates wider opening for body Umbilical cord clamped and tied off
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Stages of True Labor and Childbirth: Expulsion Stage
Figure 29.15c (c) ©D. Van Rossum/Science Source;
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Placental stage Occurs after baby is expelled
Uterus continuing to contract Compresses uterine blood vessels; displaces placenta from uterine wall Afterbirth Placenta and remaining fetal membranes Expulsion completed within 30 minutes Carefully examined to make sure all expelled Complications may occur if fragments are left
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(d) ©INSADCO Photography/Alamy
Figure 29.15d (d) ©INSADCO Photography/Alamy
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Milk letdown (continued)
Prolactin spikes occur in prolactin production each time baby breastfeeds Promotes new breast milk production As infant feeds, dopamine release inhibited by hypothalamus Inhibition stimulates large amounts of prolactin secretion Figure 29.16b
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Overview of Human Genetics
Genetics definitions Heredity Transmission of genetic characteristics from parent to child Genetics Field of biology studying heredity and transmission patterns Karyotype Display of chromosomes pairs, ordered and arranged by size and similar features Homologous chromosomes Paired chromosomes with genes for equivalent biological characteristics Autosomes Twenty-two pairs of chromosomes without genes determining sex
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Karyotype Figure 29.18 ©CNRI/Science Source
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Overview of Human Genetics
Genetics definitions (continued) Sex chromosomes Last two chromosomes containing genes that specify sex Locus Specific space where each gene is located on a chromosome Alleles Variants of one gene found at some locus on homologous chromosomes E.g., alleles determining type A or type O blood Dominant allele Expresses, or physically shows, the trait Represented by capital letter
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Genetics definitions (continued)
Recessive allele Trait is masked Expressed only if present on both homologous chromosomes Represented by lowercase letter Punnett square Box showing specific gene combinations resulting from two parents Gives probability that a particular gene combination can occur Homozygous If identical alleles present
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Genetics definitions (continued)
Heterozygous Both dominant and recessive allele present But only dominant allele expressed Expression of the recessive allele may appear to skip generations Its phenotype is masked by the dominant allele Genotype Genetic makeup of an individual Phenotype Physical expression of genotype
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Dominant Versus Recessive Alleles
Figure 29.19 (Widow's peak) ©Aaron Haupt/Science Source; (Straight hairline) ©Brownstock/Alamy RF
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Patterns of Inheritance
Strict dominant-recessive inheritance Mendelian inheritance Dominant allele always expressed in the phenotype Relatively few traits follow this pattern Most involving interaction of multiple genes May be affected by environmental factors
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Incomplete dominance Two heterozygous alleles E.g., sickle cell trait
Phenotype is intermediate between homozygous dominant or recessive E.g., sickle cell trait Most individuals with two identical alleles, A Code for normal hemoglobin A in erythrocytes Sickling allele (s) produces abnormal hemoglobin (S) Erythrocytes brittle and sickle-shaped Sickle-cell disease if two homozygous recessive alleles Heterozygous individuals carrying sickle-cell trait Under low oxygen conditions some erythrocytes may develop sickle shape
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Codominant inheritance
Two alleles equally dominant Both alleles expressed in the phenotype E.g., ABO blood group Blood types A and B codominant A allele from one parent, B allele from other parent Leads to AB blood type Third allele, i, is recessive ii results in O blood type
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Polygenic inheritance
Multiple genes interacting to produce phenotypic trait Genes on same or different chromosomes Most human traits result from this E.g., eye color, height, skin color, predispositions to many diseases
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Sex-linked traits Traits expressed by genes on X or Y chromosomes
900–1400 genes on X chromosome Most not involved in sex determination 70–200 genes on Y chromosome Mostly for male development Sex-linked traits most often involve X chromosome
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X-linked recessive traits
Always expressed in a male Has only one X chromosome Expressed in a female only if she has two recessive alleles Low probability Carrier, woman with one X-linked recessive allele only Does not exhibit phenotypic effects May pass X-linked allele to children If passed to female, also a carrier If passed to a male, will express X-linked trait
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X-linked recessive traits (continued)
E.g., color blindness Individual has trouble distinguishing red and green Women rarely color-blind Requires recessive allele from both mother and father More often carriers If man inherits allele Lacks normal allele to counteract color-blindness Will be color-blind
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