The Basic Concepts of Human Reproduction Heredity is the mechanism for the transmission of human characteristics from one generation to the next. Each person carries a genetic code or genome, & complete set of coded instructions for making and maintaining an organism. The genome is inherited from both parents. The genome is described as the blueprint or book of human life. It carries and determines all the characteristics of a person yet to be born. The genome is located within each of the one hundred trillion cells in the human body. ‘The nucleus inside the cell contains a complete set of the body's genome that is twisted into forty-six packets of threadlike microscopic structures called chromosomes. The chromosomes come in twenty-three pairs. Each pair is composed of one chromosome from the male (Y) and female (X) parents, respectively. Each set has twenty-two single chromosomes called autosomes that carry the physical, mental and personality characteristics, Meanwhile, the twenty third pair, the XY chromosomes, determines the sex of the organism. A normal female will have a pair of XX chromosomes while a normal male will have an XY pair of chromosomes. Inside the chromosome is the long threadlike molecule and genetic substance called the deoxyribonucleic acid or DNA, The DNA is a complex molecule that contains the genome. The DNA molecule consists of two strands of twisted ladder-shaped structure called the double helix that wrap around each other, The double helix was discovered in 1953 by American biochemist James Watson and British biophysicist Francis Crick. The discovery of the double helix launched tn em of molecular genetics, The genetic code can be read in the rung of the adder, ‘The code is spelled out by four chemicals or nucleotide bases, namely, Adenine, Thymine, Guanine and Cystosine, Adenine paits with Thymine, while Guanine pairs with Cystosine to form the rungs of the ladder. There are three billion chemical pairs in the DNA that contain the human genetic code, Each DNA molecule contains many asic physical and func- tional units of hereditary information. A gene is a specific sequence of the four nucleotide bases whose sequences carry the information for constructing proteins. Proteins provide the structural components of the cells, tissues and enzymes for essential biochemical reactions. Genes act as blueprint for cells to reproduce them- selves and manufacture the proteins that maintain life. Scientists estimate that there are 80,000 to 140,000 or so genes that largely determine every physical characteristic in the human body (Human Genome Project 2000). nes, the Some Principles of Genetic Determination Genetic determination is a complex affair. Much is unknown about the way genes work. Buta number of genetic principles have been discovered, among them the principles of dominant-recessive genes, sex-linked genes, polygenically inherited characteristics, reaction range and canalization. 53 ‘Scanned with CamScanneriach ff one gene of the pair is do, : rinciple. I re i Dominant-recessive genes P! its effect, overriding the nant and eae the dominant ae waa eyes, farsightedness, i essive gene. For examp'¢, . nearsighte freckles, i if the genes of a pair are p A recessive gene exerts its influence only if tl it are recessive, Ifa recessive gene is inherited from only one times es im show. The person may never know that he or one ecesive gene, Cy ‘wo brown-eyed parents have a blue-eyed baby? Yes, they ares x Prey carries a dominant gene for brown eyes and a recessive gene blue eyes. Ty Parents have brown eyes because brown eyes are dominant over blue eyes, By, both are carriers of blueness and can pass on their recessive genes for blue eyes With no dominant genes to override them, the recessive genes will make the child’; eyes blue. » the XX chromosome results that make the orgar one female X chromosome combines with the Mosome results that make the organism a male. nism a female. Mean- Y male chromosome, while, when ~ the XY chro: Polygenic inheritance principle. Genetic transmission is usually more complex than the simple examples mention ed earlier. Poly (many) genic (genes) inheritance describes the interaction of many genes to produce a particular charac- teristic. Considering that th , lere are as many as 140,000 genes, the huge number of combinations possible is hard to imagine. Traits that are Produced by the mixing of genes are said to be polygenically determined, ‘Scanned with CamScannerGenotype and phenotype genetic heritage. Nobody possesses all the characteristics that the genetic structure makes possible. Genotype refers to the person's genetic heritage or the actual genetic material. The genotype is estab- fished at conception during the process of fertilization and usually remains con- stant and does not change. On rare occasions, the constancy is disturbed when mutation takes place or errors in cell division alter subsequent cell division. Geno- type is not readily available for actual inspection. : Phenotype refers to the person’s observable traits that may be used to draw inferences about the genotype. The phenotype is the observable result between the genotype and the environment. The Biological Sources of Developmental Disabilities Basic terms in human reproduction Gametes are the human reproduction cells which are created in the reproductive organs. The ovaries of the female produce the ovum (ova) or egg cells while the testicles or testes of the male produce the spermatozoa or sperm cells. Meiosis is the process of cell division in which each. pair of chromosomes in the cell separates, with one member of each pair going into each gamete or daughter cell. Thus, each gamete, the ovum and the sperm, has twenty-three unpaired chromosomes. * The ovum is only about one-fourth the size of a period, but it is the largest cell in the human body. When a female is born, she already has about 400,000 immature ova in her two ovaries. Each ovum is contained in its own small sac or follicle. After a female matures sexually (as early as age nine to as late as sixteen) and until menopause, ovulation takes place once every twenty-eight days when a mature follicle in one of her ovaries ruptures and expels its ovum. The ovum is about 90,000 times as large as the sperm cell. Thousands of sperm cells must com- bine to break down the ovum’s membrane barrier to allow even a single sperm cell to penetrate it. In contrast to the ovum, the sperm, which is tadpole like and only one six- hundredth (1/600th) inch from head to tail is one of the smallest cells in the body. Furthermore, sperms are much more numerous, several millions, and more active than the ova. A mature male testicle normally produces several hundred million sperms a day which are ejaculated in the semen at sexual climax, An estimated twenty million sperms must enter a woman's ovary at one time to make fertiliza~ tion likely. The fertilization of a female's ovum by a male’s sperm starts the process of human reproduction. SS ‘Scanned with CamScanner— 1 Fertilization results in the formation of a single cell oe eee h the zygote, two sets of twenty-three unpaired chromosomes, one set each from th. male and the female combine to form one set of paired chromosomes. In thy manner, cach parent contributes fifty percent or half of the zygote’s genetic cog. or genome. Critical periods and developmental vulnerability during pregnancy Certain periods of development during pregnancy are critical for both the growth and the organism’s vulnerability to injury and developmental risks, Vulnerability refers to how susceptible the organism is to being injured or altered by a traumatic incident, A traumatic incident includes such broad occurrences as teratogens or toxic agents, cell division mutation and other deviations from the uusual sequence of development, Deviancy from the normal course of prenatal development results to the occurrence of developmental disabilities. The organism in utero, the zygote, the embryo and the fetus are vulnerable to injuries and developmental risks, After birth during ‘postnatal development, the newborn, the infant and the child are all vulnerable and susceptible to injuries that can persist for the dura- tion of the person’s life. The Course of Prenatal Development Development in utero covers about thirty-eight (38) weeks or two hun- Cred eighty (280) days ornine months of gestation or growth in the mother’s womb, Prenatal development is divided into three phases, ificant developments during , continuous is differentiation and implantation or attachment of the . Creation of the zygote. Reproduct female's ovum by a male sperm, Ovulation occurs once every swenty. ovum out of hundreds of ova matures and the from its follicle. The ovum is drawn ninth to the sixteenth day of the me period. Ovulation sends a chemical g sequence of biochemical substances, thejllyikeveilsurounding the ovum, Anctherchensae nes oe ens the ovunns tough outer shell. Millions of spore snes male race fo penetrate the ovun's shell, Only one ye see sperm succeeds. Once it enters the oyu ‘change fy . ‘ m, ane the membrane and 8 signal eauses the ov of other sperms. Zygote to the uterine wall. ion begins with the fertilization of a cight days or so, as an single ripe ovum bursts fallopian tube during the " ‘ele which is the fertile "shal to unleash a carefully tuned One chemical substance dissolves ‘nstrual ¢ lectric charge fires across 4M lo close, blocking the entry 56 ‘Scanned with CamScannerFertilization takes place with the union of the genetic materi- als in the ovum and sperm cells, The process occurs in the upper third of the fallopian tube within eighteen to twenty-four hours after sexual intercourse. When fertilization does not take place, “the womb weeps” and the menstrual cycle continues the following month. When an ovum is fertilized, the menstrual cycle ceases. The first sign of pregnancy is amenorrhea or the cessation of menses. The first menses is called menarche; the final cessation of menses is called menopause, while excessive sometimes painful menses is called menorthagia. The zygote is a new cell which results from the transmission of the genetic materials twenty-four to thirty hours after fertilization. The zygote weighs about one twenty-millionth of an ounce. This is one- sixteenth of a pound (2.2 pounds equals one kilo). The zygote carries the human genetic code or genome, the instruction that orchestrates one’s physical and mental traits and sociobiological tendencies and the new person’s entire lifelong blueprint of characteristics. . Continuous cell division and cell tissue differentiation. Chemical reactions occur that cause the zygote to divide repeatedly and generate new cells and tissues of different types. Cell division occurs very rapidly in the first few days and progresses with considerable speed. The zygote divides into two cells after thirty-six hours; four cells after forty-eight hours. In three days, there is a small compact ball of sixteen to thirty-two cells. In four days, a hollow ball has sixty-four to one hundred twenty-eight cells. By approximately one week, the zygote has divided into about one hundred fifty cells. Cell differentiation continues as the inner and outer layers of the organism are formed. The inner layer of cells which develops into the embryo later on is called blastocyst. The outer layer of cells that provides nutrition and support for the embryo is called trophoblast. + Implantation or attachment of the zygote to the uterine wall. Implantation starts on the sixth to the seventh day when the blastocyst starts to attach itself to the uterine wall. Two weeks after, from the elev- enth to the fifteenth day, the blastocyst invades or fully attaches itself into the uterine wall and becomes implanted in it. What can go wrong during the germinal phase? Abnormalities in the genes and chromosomes can occur. Both the speed of cell division and the process of cell differentiation expose the zygote to trauma, Genetic disorders can be transmitted, such as: 1. dominant and recessive diseases like Tay Sachs disease, galactosemia, phenylketonuria (PKU), genetic mutations; 57 ‘Scanned with CamScanner2. sex-linked inheritances such as Lesch Nyhan Syndrome, Fragile x Syndrome; 3. polygenic inheritances; 4. chromosomal deviations, the most common of which is Down Syndrome, 5. other sex chromosomal anomalies like Klinefelter Syndrome, Ture; Syndrome; and 6. cranial or skull malformations such as anencephaly or absence of major Portions of the brain, microcephaly and hydrocephaly. Biological causes of, developmental disabilities are traceable to congeni- tal or inherited genetic material Is as well as prenatal factors associated with terato- Maternal disorders, substance exposure or too much drugs and too much smoking. The genetic disorders are on mental retardation, Gens or toxic substances, ingestion of alcohol and discussed in the chapter small compact haay of 16-32 eel oliow bal of 128 ces 3-24-30 hoor air tz i {enilization mate ek (Sperm) and female S oS 9. 4Sdays Oster wl of wt inner cel! mas Amuse) sill free inverse 10.67 days basocye Sato term nner wall of wer on {Glands and blood vere : becoming implaee i! Figure 18. Significant Developments in the Germinal Period ,e The Embryonic Phase. The second from the end of the germinal phase tothe second mest development occurs cells is now called the embryo. The three neg: roca PreBnANcy. The mass of intensification of cell differenti i i “S during this phase are ation, development i this phase continued cell development and organogenesye Or the w® SUpport systems for organs of the body. Peat tance of the differept + Intensification of cell ditte entiation, During ; of cells form three layers from whieh every pa ™plantation, the mass develop. ofthe human body will 58 ‘Scanned with CamScannersells that will develop skin or the epidermis nails and lens of the The ectoderm is the outermost layer of ¢ into the surface body parts, such as the outer including the cutancous glands - the hair, eye. ‘The mesoderm is the middle layer that will develop into the body parts surrounding the intemal areas, such as the muscles, carti- lage, bone, blood, bone ureter, gonads, genital ducts, suprarenal cortex and the joint cavities. ‘The endoderm is the inner layer of cells that will develop into the epithelium of the pharynx, tongue, auditory tube, tonsils, thyroid, larynx, trachea, lungs, digestive tube, bladder, vagina and urethra. Development of the life support systems. As the embryo’s three layers of cells develop, the life support systems develop from the embryo for the transfer of substances from the mother to the zygote and vice versa. Very small molecules of oxygen, water, salt, and food from the mother’s blood are transferred to the embryo. Carbon dioxide and digestive waste from the embryo’s blood are transferred to the mother’s blood. The placenta is a disk-shaped mass of tissues in which small blood vessels from the mother intertwine. The umbilical cord contains two arteries and one vein that connects the embryo to the placenta. ‘The amnion or amniotic fluid is a bag of water that contains clear fluid where the embryo floats. The amnion provides an environ- ment that is temperature and humidity controlled and shock proof. The amnion comes from the fetal urine that the kidney of the fetus produces at approximately the sixteenth week until the ninth month or the end of pregnancy. Organogenesis is the process of organ formation and the appearance of body organs during the first two months. 1. By the third week, the neural tube forms and eventually becomes the spinal cord. At the same time, the eye buds begin to appear. By the twenty-fourth day, the cells for the heart begin to differen- tiate. The fourth week is marked by the first appearance of the urogeni- tal systems. The arm and leg buds appear. The four chambers of the heart take shape and blood vessels surface. On the fifth to the eighth week, the arms and legs differentiate further. The face starts to form but it is not very recognizable. The intestinal tract develops and the facial structures fuse. The embryo weighs about one-thirtieth of an ounce. 59 ‘Scanned with CamScannerOnce every 28 days or so, an “88 matures in an ovary, bursts Srom its follicle and enters the Fallopian tube. Millions of. Vagina, through th Fallopian tube. A single sperm fertilizes the ©88; the others are locked ou Sperm race from the 3) embryo drifis down the Fallopian ‘tube, reaching the tterus in abony a week, ‘Scanned with CamScannerWhat can go wrong during the embryonic phase? The cells divide very rapidly during organogenesis. The organs and systems that are developing are especially vulnerable to environmental changes. Induced abortion in case of unwanted pregnancy can disturb normal processes of organogenesis. Chromosomal abnormalities can cause spontaneous abortion mostly inthe second or third month. During specific periods, for example, if the central nervous system is the primary system that is developing, the cells that constitute the central nervous system - the brain and the spinal cord - divide more rapidly than the other organs. At this time the central nervous system is most vulnerable to trauma. Ingestion of ‘dermatogens or toxic agents from alcohol, drugs and nicotine, artificial food addi- tives, stress and accidents can cause trauma and affect the development that is taking place. Physical abnormalities can result as well. At birth, there are infants born with extra or missing limbs and fingers, ears and other body parts, a tail-like pro- trusion, heart or brain, digestive or respiratory organs outside the body. Facial development and body shapes can be affected by what scientists describe as “acci- dents in cell development.” Some clusters of cells that are meant to develop into certain organs and parts of the body fail to follow the precise genetic instructions and appear at birth as inhuman, with the face for example, resembling that of a frog or other animals, statues, or even pictures. People tend to attribute such occur- rences to maternal impressions. But it is clear that the scientific explanation goes back to the disturbances in development during pregnancy. The Fetal Phase. The third phase covers seven months that lasts from the third to the ninth month of pregnancy on the average. The length and weight of the fetus mentioned below are for average Caucasian babies. Asians are gener- ally shorter and lighter. I, At three months, the fetus is about three inches long and weighs about ‘one ounce. It is active, moves its arms, legs and head, opens and closes its mouth. The face, forehead, eyelids, nose, chin, upper and lower arms are distinguishable, Genitals can be identified as male or female. 2. At four months, the fetus is five and a half inches long, weighing about four ounces. Growth spurt occurs in the body’s lower parts. Prenatal reflexes are stronger, Arms and leg movements can be felt by the mother. 3. At five months, the fetus is ten to twelve inches long and weighs one- half to one pound or almost half a kilo. Structures of the skin, tocnails and fingernails have formed. The fetus is more active and shows prefer- ence for a particular position in the womb. 4. At six months, the fetus is fourteen inches long and has gained one-half to one pound. The eyes and eyelids are completely formed. A thin layer of hair covers the head. Grasping reflex is present. Irregular breathing occurs, 61 ‘Scanned with CamScanneree SR , has va 5. Atseven months, the fetus is almost seveniee inches long, has gaineg i younds. ‘one pound and weighs about three p* . 6. During the eighth and ninth months, the fetus continues we grow lng to about twenty inches and gains about four Pov | a ts develop and the functioning of the organ are ene Pp. Fetus normally weighs six to cight pounds shortly before \. Figure 20. Genetic Disorders What can go wrong during the fetal phase? The same effects of teratogens can occur and disturb normal develop- ment. The fetus continues to be vulnerable to trauma that can result to the occu” rence of disabilities. Deliberate termination of pregnancy or abortion for whateve! reasons - poor health, rape, incest, out-of-wedlock relations lead to disabilities. Inadequate birth weight due to malnutrition the infant at developmental risks, Birth of the infant. Afier full gestation for thirty-ej, 4 . . thirty- leaves the intrauterine environment of the mother’s aa ae weeks, ie ie outside world. There are changes inthe mother's body that start enna ane qrarth month or mid-pregnancy. These changes are necessary so that the veal birth process can occur normally. Some of the changes ancy? > {it the natural bi 1. rearrangement of the muscle struct i “ ure of t i fetal expulsion or to permit the normal ronal’ uterus to Cat the birth canal, ge of the fetus throug! 2, Shortly before birth and durin; seven to twelve hours on the if unsuccessful can or early birth places ng the onset of labor which lasts foF a8¢, the upper part of the cervi- 62 ‘Scanned with CamScanner_ | cal arca undergoes expansion, By the time the fetus is passing through the birth canal, the muscle structure ‘of the cervix has loos- ened and expanded. The process is called effacement that enables the fetus to be expelled. ‘The normal and desirable position of the fetus when labor begins is with the head toward the cervix. This position occurs in almost 80% of all childbirth. ‘As the fetus begins to move downward into the birth canal, the pelvic girdle or the bony hip structure stretches more. The pressure of the pelvic girdle also molds the head of the fetus. This is the reason why newborn babies have strangely shaped heads. After a few days, the head retums to its natural shape. ‘All the movements during birth are generated by the muscle contractions ofthe uterus called labor. While the fetus is moving downward, it tums clockwise from the effect of labor. ‘A few minutes after the infant is delivered, the placenta is expelled. The respiratory tract is immediately cleared of the remaining amniotic fluid and mucus. The doctor provides the stimulation for the infant to begin to breathe usually by gently patting the buttocks. The infant's first cry expands the lungs with air for the first time and starts the process of respiration. An Example of Breech Fetal Position An Example of Transverse Fetal Position From Childbirth: Family Centered Nursing From Childbirth: Family Centered Nursing (3% Bed.) by J, forio, 1975, St. Louis: C. V. Mosby. ed.) by'J, lorio, 1975, St. Louis: C. ¥. Mosby. Copy Copyright 1975 by the C.V. Mosby Co, right 1975 by the C. V. Masby Co, Reprinted by Reprinted by permission. permission. Figure 22. Abnormal Fetal Position 63 ‘Scanned with CamScannerS? What can go wrong during the birth proces: i i hen potential ther important time w1 ili ‘The birth process represents ano! y Fehen poten to the fetus i infant are high. The birth process is very complex at id at times ma nd Not proceed smoothly. Difficulties can arise that result to developmental disabjy, ties, 1. Physical trauma or mechanical injury during birth may injure « damage the brain and impair intellectual functioning. In precipitous birth where labor is short (less than two hours) sku molding that should be slow and smooth may affect and injure the brain. ‘ In breech birth where the buttocks instead of the head presen itself first poses substantial danger because the head reaches th Pelvic girdle during the later stages of labor when there is mor Pressure exerting on it. The abnormal pressure generated in breech birth rapidly compresses the still soft skull which crushes portions of the brain. Also, te rapid pressure and shifting of cranial bones can damage the circulatory system around the brain and lead to hemorrhage in the skull and brain damage, Usually, a fetus in breech position is delivered by caesarian section. el Surgery is done and the fetus is extracted from the uterine wall. In the transverse position where the fetus lies across the birth canal, the same problems in breech birth are Present. qrogis or Ssbhyi occurs in breech deivery and de ives the infat Of adequate supply of oxygen for a period long enough to damage the brain. The infant must depend cntirely on the umbilical d as a source oromsgen until births completed. Howeres beeen oe ee ee Short to remain attached while he head is beng expelled. The placenta can become the head is stil inside the bin. canal te ee severe brain injury can happen. 'minates oxygen supply a Newborn Screening - Your Retarded ¢| hild ¢ (The Philippine Star, Monday, rd Have Been Norma! ', 2005) A drop of blood can save your baby from mony ay ret Republic At No. 2288 thrive, . ‘nation and death of 2004," isan act promulgating a cone ne 88 the NSive palin, NeWborn Sereening At sive Policy : ‘ ensuring newborn screening. The law was qe toned anda ational system fo" ntly by the Department of “ Depa ‘Scanned with CamScannerHealth and the National Institute of Health of UP Manila. The law institutional- izes the National Newborn Screening System (NBS). It insures that every baby bom in the Philippines is offered newbom screening; the establishment and inte- gration of sustainable newbom screening system within the public health deliv- ery system; that all health practitioners are aware of the benefits of NBS and of their responsibilities in offering it; and that all parents are aware of NBS and their responsibility in protecting their child from any of the disorders. What is newbom screening? Ask any expecting couple if they would want aboy ora girl and they would usually answer: “We don’t really care. We just want our baby to be normal.” Expecting couples (especially first timers) see to it that they visit their doctor regularly to ensure the health of their unborn child. What a lot of people don’t know is that a perfectly healthy looking child at birth may grow up to be mentally retarded or could even die soon after if not given the proper tests immediately after birth. A simple test given 24 to 72 hours after birth can mean the difference between having a normal child or a mentally retarded child. This test is aptly called Newborn Screening. After giving birth, parents should request their attending health practitioner (if not prompted by them) to have their babies go through Newbom Screening. Ideally the test should be a stan- dard operating procedure for hospitals and other birthing facilities. Newbom Screening is a very simple test that should be given to the baby 24 hours after giving birth. Take note that if the test is given too late, the baby can either die or eventually be severely retarded. It is a blood test wherein a blood sample will be taken from the heel of the child. The sample, which is dropped in special paper, is then sent by the hospital to a centralized testing center which is tun by the National Institute of Health at its head office in UP Manila. The test primarily checks for five metabolic disorders that could affect the health of the child within the first few weeks of life. If gone undetected, these disorders may cause severe mental retardation, cataracts, severe anemia Kernicterus oreven death for the child. However, if these disorders are diagnosed early enough, the child can grow up as a normal healthy human being. The five metabolic disorders that Newbom Screening can detect are: Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, and Glucose Six Phosphate Dehydrogenase deficiency. It is estimated that newborn screening can save at least 33,000 babies annually from the disorders. Currently, only 6 percent of the over 1.5 million births Undergo newborn screening. There are about 1,700 hospitals in the country and Currently, only 400 hospitals and birthing facilitics implement NBS. By 2006, all hospitals and birthing facilities must provide NBS services. It shall be a mandatory Fequirement for licensure of hospitals and birthing facilities. ' Lives can be saved by this simple test. If the baby is shown to be positive °F any of the disorders, the parents will be immediately informed and more tests Will be done to the child to confirm the test, Once properly diagnosed, proper frament and care can be given to the baby to correct the disorder, The baby can 'en go on to live a happy and normal life, 65 ‘Scanned with CamScanner