Infancy Development from Birth to Age 3, 2nd Edition By Dana Gross – Test Bank

 

 

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Chapter 3: Genetics, Conception, and Prenatal Development

 

CHAPTER 3 AT-A-GLANCE

Key Topics	Detailed Outline	Readings & Activities	Media Supplements	Professor Notes
Genetics and the Human Genome		Gottlieb et al. (2006); Johnson (2005)	Video: “The Genetic Gamble”
	Genetics and Disease	Hands On #1: Digging Deeper
	Genetics and Prenatal Development
Conception			Video: “Life’s Greatest Miracle”
	Twins and Other Multiples
	Sex Chromosome Abnormalities
	Infertility and Assisted Reproduction		Video: “18 Ways to Make a Baby”
Prenatal Development		Johnson (2000); Nelson et al (2006)	Video: “Secret Life of the Brain: The Baby’s Brain”
	The Germinal Stage, Fertilization to 2 Weeks	Lecture Launcher: Prenatal Brain Development
	The Embryonic Stage, 2-8 Weeks
	The Fetal Stage, 8 Weeks to Birth (38 Weeks)
Birth Defects
	Neural Tube Defects
	Congenital Heart Defects
Prenatal Diagnosis and Treatment			Video: “Childhood, Part 1: Great Expectations”
	Preimplantation Genetic Diagnosis (PGD)		Video: “Childbirth From Inside Out: Part 1 – Pregnancy and the Prenatal Period”
	Ultrasound
	Maternal Blood Screening
	Chorionic Villus Sampling (CVS)
	Amniocentesis
	Fetal Therapy
Prenatal Influences		Hands On #2: Change Your Ways?	Video: “Unnatural Causes: When the Bough Breaks”
	Nutrition
	Alcohol and Drugs
	Disease
	Stress
	Environmental Hazards
	Paternal Influences

Chapter Outline

Genetics and the Human Genome Genetics and Disease

·         Most diseases and complex characteristics are influenced by multifactorial transmission.

Genetics and Prenatal Development

·         Genes determine the development of specialized body structures and parts of the brain.

Conception

Twins and Other Multiples

·         Siblings resulting from two different eggs are known as fraternal or dizygotic (DZ) twins. • Siblings resulting from a single egg are known as identical monozygotic (MZ) twins.

Sex Chromosome Abnormalities

·         If a problem occurs during meiosis, there may be an abnormal number of X or Y chromosomes.

Infertility and Assisted Reproduction

·         Assisted reproductive technologies (ART) are associated with a higher rate of multiple births.

Prenatal Development

The Germinal Stage, Fertilization to 2 Weeks – Key events include:

·         Formation of the zygote

·         Formation of blastocyst (hollow sphere made out of ~lOO identical cells formed through mitosis)

The Embryonic Stage, 2 to 8 Weeks

·         The placenta forms from trophoblast and uterine lining.

·         The umbilical cord connects the embryo to the placenta.

·         Three distinct layers begin to form – the ectoderm, endoderm, and mesoderm.

·         Growth follows the cephalocaudal principle and the proximodistal principle.

The Fetal Stage, 8 Weeks to Birth (38 Weeks)

·         With intensive care, a fetus born at 24 weeks may survive.

·         The fetal stages is the most rapid prenatal period of brain development and neuron production.

·         Unlike other major organs, the brain is not completely developed at birth.

Birth Defects – less common than in the past, but still the leading cause of infant death

       Neural Tube Defects

·         Rates of neural tube defects have been reduced through folic acid fortification of food products.

Congenital Heart Defects

·         New diagnostic and treatment options have increased chances of survival.

Prenatal Diagnosis and Treatment

Pre implantation Genetic Diagnosis — Couples with a known high risk of having a child with a serious genetic disorder may consider using pre implantation genetic diagnosis (PGD)

Ultrasound – a low-risk widely used procedure

Maternal Blood Screening — the maternal serum alpha fetoprotein (MSAFP) test is used on most pregnant women

Chorionic Villus Sampling — used only in specific circumstances to diagnose or rule out defects and chromosomal abnormalities

Amniocentesis — used only in specific circumstances to diagnose or rule out defects and chromosomal abnormalities

Fetal Echocardiography – an ultrasound test used in cases of suspected cardiac defects

 

 

 

Fetal Therapy

·         Many fetal problems are treated or prevented by giving drugs to the mother or by choosing a cesarean delivery.

·         Fetal surgery has been perfected for some defects but is still considered experimental for most other conditions.

Prenatal Influences – most pregnancies in the United States end with the birth of a healthy, full-term baby Nutrition – a healthy, nutritious prenatal diet may prevent a range of birth defects and problems

       Alcohol and Drugs

·         Alcohol and drugs damage the embryo by crossing the cell membranes of the placenta.

·         Prenatal exposure to alcohol may cause fetal alcohol syndrome (FAS).

Disease

·         Development can be affected by pre-existing chronic conditions and infectious diseases.

Stress

·         Prenatal exposure to stress has been linked to complications during pregnancy as well as behavioral abnormalities after birth.

Environmental Hazards

·         Environmental hazards may exist in the mother’s workplace or in the foods she eats.

Paternal Influences

·         Illicit substances used by the father, as well as environmental hazards in the father’s workplace, may harm the developing child.

 

Key Words

Amniocentesis (81)                                 A procedure for prenatal diagnosis in which a small sample of fluid is taken from the amniotic sac and used to detect any genetic or chromosomal abnormalities.

Assisted reproductive                              Fertility treatments in which both egg and sperm are handled.

technology (ART) (68)

Autosomes (62)                                       Any of the chromosomes other than the sex-determining chromosomes.

Blastocyst (71)                                         The hollow, spherical structure comprised of approximately one hundred identical cells formed through mitosis during the first week after conception.

Cephalocaudal principle (71)                The pattern of growth in which development begins in the anterior (head) and later occurs in the posterior (tail) of the organism.

Chorionic villus sampling                       A procedure for prenatal diagnosis in which cells are collected

(CVS) (81)                                                 from the chorion, the fetal membrane that gives rise to the placenta.

Chromosomes (62)                                 Physical structures consisting of DNA and supporting proteins.

Deoxyribonucleic acid                            Strands of molecules that carry the genetic code of a cell.

(DNA) (62)

Dizygotic twins (67)                                Siblings resulting from two different eggs, also known as fraternal (DZ) twins.

Down syndrome (65)                              A congenital syndrome, also referred to as trisomy 21, in which there is an extra chromosome 21; individuals with Down syndrome have distinctive facial features and physical characteristics and have mild to severe mental retardation.

Ectoderm (72)                                          The upper layer of the inner cell mass, which gives rise to the brain and spinal cord, sensory organs, and skin, nails, hair, and teeth.

Embryonic stage (71)                             The second prenatal stage, lasting from 2 weeks to 8 weeks.

Endoderm (72)                                         The lower layer of the inner cell mass, from which the respiratory and digestive systems develop.

Fetal alcohol syndrome (FAS) (85)      A constellation of physical, behavioral, and cognitive

abnormalities caused by prenatal exposure to alcohol.

Fetal stage (74)                                        The third prenatal stage, lasting from 8 weeks until birth.

Genes (62)                                                 Units of hereditary information; each gene is a segment of DNA in a specific location on a chromosome.

Germinal stage (71)                                 The first prenatal stage, beginning at conception and ending at approximately 2 weeks.

Maternal serum alpha test (81)            A screening test in which the level of alpha fetoprotein in the fetoprotein (MSAFP)                         mother’s bloodstream is measured; also known as the triple

screen because it measures the amount of estriol and HCG

present in the mother’s blood.

Meiosis (66)                                              The process through which sex cells divide at conception.

Mesoderm (72)                                        The middle layer of the inner cell mass, from which the circulatory and excretory systems, muscles and skeleton develop.

Mitosis (62)                                               The life-long process of cell division in which a cell divides into two identical cells.

Monozygotic twins (67)                         Siblings resulting from a single egg, also known as identical (MZ) twins.

Multifactorial transmission (65)           The interaction of genes and the environment that produces most complex human characteristics.

Neural tube defects (76)                         Birth defects that involve abnormal development of the neural tube during the first few weeks of the prenatal period.

Neuron (75)                                              Nerve cell in the brain, comprised of a cell body, axons, and dendrites.

Ovum (66)                                                Female sex cell.

Placenta (72)                                            A network of blood vessels, formed from cells in the trophoblast and from cells in the uterine lining, the function of which is to convey oxygen and nutrients to the embryo and carry away waste products.

Preimplantation genetic                         A procedure in which a biopsy is performed on blastocysts resulting from in vitro

diagnosis (PGD) (79)                               fertilization, with the purpose of selecting blastocysts that are not carriers of genetic mutations for disease for transfer to the woman’s uterus.

Proximodistal principle (72)                  The pattern of growth in which development begins in the center of the body and moves toward the extremities of the organism.

Sex-linked inheritance (64)                    Transmission of characteristics via the mother’s X chromosome; sons but not daughters inherit the trait.

Sex chromosomes (62)                           The pair of sex-determining chromosomes each human possesses: XX in females and XY in males.

Sperm (66)                                                Male sex cell.

Teratogens (70)                                        Substances, such as alcohol, drugs, nicotine, and radiation, that are known to cause harm to the developing fetus.

Ultrasound (80)                                        A prenatal diagnostic tool, also referred to as sonography, that uses sound waves to create moving images of the fetus and detect any structural abnormalities.

Umbilical cord (72)                                 The structure through which the embryo is connected to the placenta.

Zygote (67)                                               The cell that results when an ovum is fertilized by a sperm cell.

 

 

Think About It:  Questions for Reading & Discussion

1.    How would you respond to parents seeking out a particular sperm donor in order to produce biologically related siblings? Based on the information in this chapter, would you encourage or discourage the couple?

 

2.    Would you want to know if you, your parents, or your future spouse/partner carry genetic mutations for disease? Why or why not? If so, when would you want to have this information and how would you use it?

 

3.    Discuss the ART options available to couples facing infertility. If friends of yours were considering ART or other methods of becoming parents, what advice and information would you give them?

 

4.    Many prohibitions placed on pregnant women in the past are now known to be unnecessary. Besides those discussed in the chapter, what other “old wives tales” have you heard about things women should avoid during pregnancy? Did you find any support in this chapter for those ideas?

 

5.    Compare the three stages of the prenatal period in terms of length, major events, and vulnerability to teratogens.

 

6.    If you were asked to make a Top Ten List of steps that expectant parents could (or should) take to help their baby have a health start in life, what would be on that list and why?

 

7.    Compare the relative importance of nutrition, alcohol and drugs, disease, and environmental hazards on prenatal development. If you could focus on only one of these influences, which would it be, and why?

 

8.    What assessment, diagnostic, and treatment options are available for expectant parents today? Which options would you want to take advantage of, if you and your spouse/partner were expecting a child?  If there are some options that you would avoid, why would you avoid them?

 

Lecture Launcher: Prenatal Brain Development – An Unfinished Story

All of the major organs are developed by the end of the prenatal period except one – the brain. Drawing on recent summaries of brain development (Johnson, 2000, 2005; Nelson et al., 2006), describe the major stages of brain development (Nelson et al., p. 7):

 

Neurulation                                       18-24 prenatal days                        Cells differentiate into one of three layers.

Neuronal migration                         6-24 prenatal weeks                        Neurons migrate toward the cerebral cortex, in an inside-out pattern, resulting in six layers.

Synaptogenesis                                3^rd trimester-adolescence               Neurons develop dendrites and are connected via synapses, with connections strengthened by neuronal activity.

Myelination                                      3^rd trimester-middle age                  Neurons become more efficient at communicating via action potentials as they are enclosed in a myelin sheath.

Gyrification                                      3^rd trimester-adulthood                   The characteristic folds begin to appear on the initially smooth brain tissue.

Neurochemical development        Prenatal period-adolescence         Neurotransmitters are developed.

 

Synaptic pruning                             Birth-adulthood                               Synapses are overproduced during the prenatal period and then pruned away as a function of experience and stimulation.  Pruning occurs at different times in different regions of the brain.

 

Understanding of these major stages can be reinforced through visual images, such as those that are found on the website of the Society for Neuroscience (http://www.sfn.org/).

 

 

Hands-On Learning Activities

 

1.    Digging Deeper: Select one of the genetic diseases described in Chapter 3 and search for websites about that disease. Try to find out if there is a support group for families whose children have the disease. Based on the information that you find, determine whether the disease has its greatest impact during the first 3 years of life or at a later age. As part of your research, try to find out the current status of research on the disease: can it be prevented? If not, how close are we to finding an effective treatment or cure?

 

2.    Change Your Ways? Keep a detailed record of your activities for 2 days. Then, review all of your behaviors, including the food you ate, the beverages you consumed, any medication you took, the quality of your environment, and any stressors to which you were exposed. Regardless of whether you are male or female, evaluate these behaviors in terms of (a) how typical they are for you, and (b) whether you would need to change your ways if you were pregnant.

 

Suggested Videos and DVDs	Description
“The Genetic Gamble,” (1985, 58 mins), WGBH-TV and Beach Media, Inc.	Examines current research and prospects for the future of the controversial gene therapy. Medical scientists describe the need for gene therapy in treating patients suffering from various diseases caused by genetic disorders. Also explores the legal ramifications of genetic engineering.
“Life’s Greatest Miracle,” (2001, 58 mins), NOVA.	When it first aired in 1983, the NOVA program “Miracle of Life” was hailed as revolutionary. Famed Swedish photographer Lennart Nilsson’s stunning endoscopic images of life inside the womb opened up a hidden world that few had ever seen. “Life’s Greatest Miracle” showcases Nilsson’s most recent photography while at the same time touching on the latest advances in our understanding of fertilization and embryonic and fetal development.
“The Odyssey of Life: The Ultimate Journey,” (1996, 58 mins), Swedish Television, WGBH-TV, and ZDF for NOVA.	The micro-photography of Lennart Nilsson takes you into the hidden world of life in the womb, from the dance of the egg and sperm to the emergence of our first tiny features to the thrill of birth.
“The Miracle of Life,” (1985, 58 mins), Swedish Television and WGBH-TV for NOVA.	A classic documentary which shows the actual conception and development of a baby. Looks inside the male and female reproductive organs to show the formation of sperm and the passage of a fertilized egg through the fallopian tube. Uses a microscope to observe DNA, chromosomes, and other minute body details building up to the moment of birth.
“Childhood, Part 1: Great Expectations,” (1991, 57 mins), Thirteen WNET & The Childhood Project, Inc. in association with Channel 4/London & Antelope Films, Ltd., Ambrose Video.	Presents an insightful and richly textured examination of the various influences that shape us as individuals and as members of the families and societies in which we are raised. Through the observation of 12 families on 5 continents, the series looks at childhood from a number of perspectives–personal, scientific, historical, and cultural. Includes documentary sequences, provocative historic films, and vivid clinical illustrations with on-screen commentary by experts.
“18 Ways to Make a Baby,” (2001, 58 mins), NOVA.	Ever since the birth in 1978 of Louise Brown, the first baby conceived outside the womb, the science of assisted reproduction has burgeoned beyond belief. Today, to give just two examples, a woman in her sixties can give birth to a baby using the donated egg of a younger woman, and a baby can have five parents: an egg donor, a sperm donor, a surrogate mother who carries the baby to term, and the parents who will raise the child.
“How Babies Get Made,” (1987, 58 mins), BBC-TV and WGBH-TV.	Examines the processes by which embryos develop from single cells into complex organisms and the efforts of scientists to discover the cellular and genetic mechanisms that account for both normal and abnormal embryological development.
“High Tech Babies,” (1986, 58 mins), WGBH-TV.	This program discusses the triumphs, problems, and controversies surrounding the uses of technology in childbearing.
“The Secret Life of the Brain: The Baby’s Brain: Wider than the Sky,” (2001, 58 mins), PBS.	Examines how the brain builds itself from conception through the first year of life. Neurobiologists study the intricate relationship between genes and the environment, and a study is done to find out if the difficulties premature babies have paying attention and learning later in life can be overcome by providing an environment that imitates the womb.  Also shows the case of an infant with a congenital cataract as an example of a critical period in development.
“Human Brain Development: Nature and Nurture,” (2006, 30 mins), Davidson Films.   With Helen Neville, Ph.D.	Shows the fascinating interplay of genetic predispositions and experience in the development of the brain after birth. Three profiles of plasticity are depicted: (1) systems that are constrained in plasticity very early in development like central vision, (2) systems that are plastic but only within certain time frames like learning the sound system of a language, and (3) systems in which plasticity continues throughout life such as vocabulary development. Compelling footage of behavioral, MRI, and EEG research into the development of visual perception and the various aspects of language acquisition from infancy through old age are also demonstrated. A congenitally deaf young person, university students and lively preschool children participate in a series of controlled studies that illustrate how neuroscience research is achieved, and also how all brains change over time and circumstance. Practical advice for utilizing of sensitive periods and optimal specialization of brain areas make the learning of these important concepts meaningful to students.
“Childbirth From Inside Out: Part 1 – Pregnancy and the Pre-Natal Period,” (n.d., 72 mins), V.I.E.W. Video.	This two-part series presents comprehensive, medically sound information that deals simply and honestly with the many aspects of childbirth. Part I covers pregnancy and the planning stages up to the actual delivery. Areas covered include amniocentesis and ultrasound, morning sickness and a review of drugs.
“Unnatural Causes: When the Bough Breaks,” (2008, 29 mins), California Newsreel.	This episode (part of a 4-hour documentary about the connection between social conditions and population health) examines evidence suggesting that the chronic stress of racism may explain why African American infant mortality and low birthweight rates are twice as high as for white Americans.