INTRODUCTION Newborn Screening is a practice of testing every newborn for certain harmful or potencially fatal disorder that are

otherwise apparent at birth. Many of these metabolic disorders, inborn errors of metabolism which interfere with the bodys use of nutrients to maintain healthy tissues and produce energy. It is a practice of simple procedure to find out if the newborn baby has a congenital metabolic disorder that may lead to mental retardation and even death if unthreatened. Almost every woman notices some immediate feelings of sadness after childbirth. The puerperium is the period beginning after delivery and ending when the womans body has returned as closely as possible to its pre-pregnant state. This

probably occurs as a response to the anticlimactic feeling after birth and probably is related to hormonal shifts as estrogen, progesterone and corticotrophin-releasing hormone levels in her body decline. This research study is entitled the factors affecting awareness of postpartum mothers about newborn screening, and the survey is done in Fabella Hospital wanted to show the post-partum mothers behavior for their childs newborn screening and their care for their newborns. This will further show their activities after giving birth, their reasons for their behaviors, and their knowledge about the importance of newborn screening.

CONCEPTUAL FRAMEWORK

INPUT

PROCESS The problem of the research is going to be solve by interviewing and researching about the Awareness og post partum mothers about newborn screening.

OUTPUT

the factors affecting awareness of postpartum mothers about newborn screening

The factors affecting awareness of postpartum mothers about newborn screening is proven in this thesis.

The researchers want to find out the factors affecting awareness of postpartum mothers about newborn screening in Fabella Hospital. The table shows how the

researchers researched, surveyed and solved their thesis statement.

STATEMENT OF TH EPROBLEM This research sought to assess the factors affecting awareness of postpartum mothers about newborn screening in Fabella Hospital. Specifically it tried to answer the following questions: 1. What is the profile of the respondents as to: 1.1 age 1.2 civil status 1.3 educational attainment 1.4 occupation 2. Are you familiar with newborn screening? 3. Are you well informed about the newborn screening act that every newborn baby

has to go through within 48 hours? 4. Do you think that newborn screening is really needed for the sake of your childs health? 5. Does the newborn screening costs much? 6. Can you provide your child the newborn screening to make sure about his health? 7. does your doctor told you about the importance of newborn screening? 8. Do you take care of your infant yourself?

9. Can you be a mother at your age? 10. Are there people who support you as a young mother?

HYPOTHESIS

That there are significant relationship on the health of a child born with postpartum mother and the babys newborn screening, for there are stage that a mother who had just gone childbearing cannot take care of her infant in the same way that an ordinary mother without postpartum blues can take care of theirs.

SIGNIFICANCE OF THE STUDY This study entitled the factors affecting awareness of postpartum mothers about newborn screening in Fabella Hospital aim to know factors that affects their health, the following will benefit from this study: Students. They will gain knowledge and understanding about the newborn screening act and how to take care of a post-partum mother. Clinical Instructors. They would be guided accordingly on how to teach their students about the importance of life and the meaning of newborn screening and post partum.

SCOPE AND LIMITATION

This study deals mainly with the factors affecting awareness of postpartum mothers about newborn screening in Fabella Hospital. 1. to be able to indicate the meaning of newborn screening and the behaviors of a post partum teenage mother; 2. they also visited website of this problem and the meaning of newborn screening and the behaviors of a post partum teenage mother and its causes and effects; 3. also the researchers has able to spread questionnaires to people that is involved in their topic; 4. listing only important information is the first thing they do; 5. secondly the researchers edited the data they gathered;

NEW BORN SCREENING In few women, these normal feelings continue beyond the immediate postpartal period. In addition to an overall feeling of sadness, the woman may notice extreme fatigue, an inability to stop crying, increased anxiety about her own or her infants health, insecurity, psychosomatic symptoms and either depressive or manic mood fluctuations. Depression that continues in this way is termed postpartal depressions and reflects a more serious problem. Risk factors for postpartal depression include a history of depression, a troubled childhood, stress in the home or at work, lack of self-esteem, or lack of effective support people. Low seld-esteem may be a major contributing factor. Differences between a woman wanting a pregnancy and her partner not wanting it could play a major role. It is difficult to predict which women will develop postpartal depression before birth of their baby because birth can result in varied reactions; if they can be identified, pregnancy counseling may be able to prevent symptoms. For women who have not been identified as at risk, the discovery of the problem as soom as symptoms develop is a nursing priority. The woman will need counseling and possibly antidepressant therapy to integrate the experience of childbirth into her life. This is crucial to development of a healthy maternal-infant bond, to the health of any other children in the family, and to overall family functioning. As many as 1 woman in 500 presents enough symptoms in the year after birth of a child to be considered psychiatrically ill. This statistic represents the current rate of overall mental illness. Because the illness coincides with the postpartal period it has been called postpartal psychosis. Rather than being a response to the physical aspects

of child bearing. However, it is probably a response to the crisis of childbearing. The majority of these women will have had symptoms of mental illness before the pregnancy. If the pregnancy had not precipitated the illness, a death in the family, the loss of husbands job, a divorce or osme other major life crisis would probably have precipitated the same recurrence. The woman usually appears exceptionally sad. By definition, psychosis exists when a person has lost contact with reality. The woman with a childbearing psychosis may deny that she has had a child and, when the child is brought to her, insist that she was never pregnant. She may voice thoughts of infanticide or that the infant is

possessed. When observation tells you that a woman is not functioning in reality, you cannot improve her concept of reality by a simple measure such as explaining what a correct perception is. Her sensory input is too disturbed to comprehend this. In

addition, she may interpret your attempts as threatening.

A psychosis is a severe

mental illness that requires referral to a professional psychiatric counselor and antipsychotic medication. Always keep in mind that, although rare, postpartum psychosis does exists. Remembering that childbearing can lead to this degree of mental illness helps you to put childbearing into perspective. For some people, childbearing is such a crisis in their lives that it can trigger mental illness. Certainly, it cannot be considered an everyday incident in anyones life. In the case of genetic disease, options often exist for presymptomatic diagnosis that is, diagnosis of individuals at risk for developing a given disorder, even though at the time of diagnosis they may be clinically healthy. Options may even exist for carrier

testing, studies that determine whether an individual is at increased risk of having a child with a given disorder, even though he or she personally may never display symptoms. Accurate predictive information can enable early intervention, which often prevents the clinical onset of symptoms and the irreversible damage that may have already occurred by waiting for symptoms and then responding to them. In the case of carrier testing, accurate information can enable prospective parents to make moreinformed family-planning decisions. Unfortunately, there can also be negative aspects to early detection, including such issues as privacy, individual responses to potentially negative information, discrimination in the workplace, or discrimination in access to or cost of health or life insurance. While some governments have outlawed the use of presymptomatic genetic testing information by insurance companies and employers, others have embraced it as a way to bring spiraling health-care costs under control. Some communities have even considered instituting premarital carrier testing for common disorders in the populace. Genetic testing procedures can be divided into two different groups: (1) testing of individuals considered at risk from phenotype or family history and (2) screening of entire populations, regardless of phenotype or personal family history, for evidence of genetic disorders common in that population. Both forms are currently pursued in many societies. Indeed, with the explosion of information about the human genome and the increasing identification of potential risk genes for common disorders, such as cancer, heart disease, or diabetes, the role of predictive genetic screening in general medical practice is likely to increase.

At present, adults are generally tested for evidence of genetic disease only if personal or family history suggests they are at increased risk for a given disorder. A typical example would be a young man whose father, paternal aunt, and older brother have all been diagnosed with early onset colorectal cancer. Although this person may appear perfectly healthy, he is at significantly increased risk to carry mutations associated with familial colorectal cancer, and accurate genetic testing could enable heightened surveillance (e.g., frequent colonoscopies) that might ultimately save his life. Carrier testing for adults in most developed nations is generally offered only if family history or ethnic origins suggest an increased risk of having a particular disease. A typical example would be to offer carrier testing for cystic fibrosis to a couple including one member who has a sibling with the disorder. Another would be to offer carrier testing for Tay-Sachs disease to couples of Ashkenazic Jewish origin, a population known to carry an increased frequency of Tay-Sachs mutations. The same would be true for couples of African or Mediterranean descent with regard to sickle cell anemia or thalassemia, respectively. Typically, in each of these cases a genetic counselor would be involved to help the individuals or couples understand their options and make informed decisions. Screening of large unphenotyped populations for evidence of genetic disease is currently pursued in most industrialized nations only in the newborn population, although future developments in the identification of risk genes for common adult onset disorders may change this policy. So-called mandated newborn screening was initiated in many societies in the latter quarter of the 20th century in an effort to prevent the drastic and often irreversible damage associated with a small number of relatively

common genetic disorders whose sequelae can be either prevented or significantly relieved by early detection and intervention. The general practice is to collect a small sample of blood from each newborn, generally by pricking the infant's heel and collecting drops of blood on special filter paper, which is then analyzed. Perhaps the best-known disorder screened in this manner is phenylketonuria (PKU), an autosomal recessive inborn error of metabolism discussed in the section Autosomal recessive inheritance. With early diagnosis and dietary intervention that is maintained throughout life, children with PKU can escape mental retardation and grow into healthy adults who lead full and productive lives. Although many of the genetic disorders currently tested by mandated newborn screening are metabolic in nature, this trend is beginning to change. For example, in some communities newborns are screened for profound congenital hearing loss, which is now known to be frequently genetic in origin and for which effective intervention is now available (e.g., through cochlear implants). Genetic tests themselves can take many forms, and the choice of tests depends on a number of factors. For example, screening for evidence of sickle cell anemia, a hemoglobin disorder, is generally pursued at least initially by tests involving the hemoglobin proteins themselves, rather than DNA, because the relevant gene product (blood) is readily accessible, and because the protein test is currently cheaper to perform than the DNA test. In contrast, screening for cystic fibrosis, a disorder that predominantly affects the lungs and pancreas, is generally pursued in the at-risk newborn at the level of DNA because there is no cheap and accurate alternative. Older persons suspected of having cystic fibrosis, however, can also be diagnosed with a sweat test that measures sweat electrolytes.

Tests involving analysis of DNA are particularly powerful because they can be performed using very tiny samples; also, the DNA tested can originate from almost any tissue type, regardless of whether the gene of interest happens to be expressed in that tissue. Current technologies applied for mutation detection include traditional karyotyping and Southern blotting, as well as a multitude of new tests, including FISH with specific probes or the polymerase chain reaction (PCR), which refers to an enzymatic process by which specific regions of the genome can be amplified for molecular study. Which tests are applied depends on whether the genetic abnormalities are likely to be chromosomal (in which case karyotyping or FISH are appropriate), large deletions or other rearrangements (best tested for by Southern blotting or PCR), or point mutations (best confirmed by PCR followed by oligonucleotide hybridization or restriction enzyme digestion). If a large number of different point mutations are sought, as is often the case, the most appropriate technology may be microarray hybridization analysis, which can test for tens to hundreds of thousands of different point mutations in the same sample simultaneously.

THE LAW ABOUT NEW BORN SCREENING According to Republic Act 9288 which is called The newborn screening Act in the Philippines, it is an act that every newborn Filipinos must be screened within 48 hours, it has only 5 diseases that a child will be screened of, and these are the following: Congenital Hypothyroidism Particularly in human beings, any abnormality of structure, deficiency of function, or disease that is present at the time of birth, whether caused by genetic transmission, accident, or infection. The more restrictive term birth defect denotes abnormalities present at birth apart from diseases, such as syphilis, that can attack the child before birth and damage structures already formed. Among infections possibly only rubella (German measles) affects the embryo during its period of development, producing true malformations. The unborn human infant acquires its essential form, and its organs and tissues are all laid down and defined, within the first eight weeks after conception. This is the period during which the child is often, but not always, described as an embryo; only afterward is it called a fetus. After the first eight weeks there is differentiation and growth, and some anomalies may arise, especially of the brain, eye, and inner ear; but all gross disturbances of form will already have occurred. The distinction between embryo and fetus is useful if it emphasizes the early period of development critical in the production of congenital defects. Many biochemical defects may not be manifest until the metabolism is separated at birth from that of the mother; all such defects, however, have their inception in an earlier failure to develop some enzyme system.

Congenital adrenal hyperplasia Congenital adrenal hyperplasia is a disorder in which the hereditary absence of a single enzyme has far-reaching consequences. In the most common form of this deficiency, an adrenal enzyme called 21-hydroxylase is absent. As a result, the adrenals cannot synthesize aldosterone and cortisol. The low levels of circulating cortisol reduce inhibition of corticotropin secretion by the pituitary. The resulting high levels of corticotropin lead to excessive secretion of adrenal androgens. When this enzyme deficiency is absolute, the child may die at, or soon after, birth from adrenal insufficiency. When the enzyme deficiency is only partial, the child may survive. Because the excess of adrenal androgens begins in utero, however, children are born with striking signs of masculinization (virilization): newborn genetic females have an enlarged clitoris, often mistaken for a penis, and an enlarged vulva, which resembles a bilobed scrotum. These individuals, known as female pseudohermaphrodites, may reach maturity and live out their lives as short, stocky males. They are, of course, infertile since they have vestigial ovaries rather than testes. A variation on this disorder occurs late in adolescence and is diagnosed in women who appear normal except for the development of excessive hair on the face and extremities (hirsutism). In genetic males, the excessive androgens lead to striking muscle development and an enlarged penis, the infant Hercules. Treatment of the juvenile form of this disorder depends upon the time of diagnosis. If the patient is near the age of puberty, it is generally considered wise to permit the genetic female to maintain the male gender role since it has become deeply

embedded. When the diagnosis is made at birth, however, treatment with replacement doses of cortisol permit a reversal of the entire process. Normal levels of cortisol reduce the excessive secretion of corticotropin, which in turn decreases the secretion of male sex hormones (adrenal androgens) to normal. The patient then develops normally, and the ambiguous genitalia can be corrected surgically. For the late-onset type, treatment with cortisol or one of the synthetic glucocorticoids arrests the process. Other enzyme deficiencies in adrenal hyperplasia result in still other dramatic variations. The absence of 17-hydroxylase leads to a stockpiling of steroid precursors, sometimes including a powerful mineralocorticoid called desoxycorticosterone. The result in a child is similar to that seen in primary aldosteronism (hyperaldosteronism) with hypertension and hypokalemic alkalosis. Another genetic defect, 18-hydroxylase deficiency, blocks the formation of aldosterone so that the child shows evidence of mineralocorticoid deficiency, excreting excessive amounts of salt. This is a hereditary form of hyperaldosteronism. These variants are also treated with replacement doses of the deficient hormone. Galactosemia a hereditary defect in the metabolism of the sugar galactose, which is a constituent of lactose, the main carbohydrate of milk. Infants with this condition appear normal at birth, but, after a few days of milk feeding, they begin to vomit, become lethargic, fail to gain weight, and show an enlargement of the liver. Untreated infants who survive are usually malnourished and stunted in growth; cataracts in the eyes and mental retardation may also occur. When their urine is tested for sugars, galactose

invariably is present. In all affected infants, the symptoms of galactosemia regress after milk and milk products are eliminated from their diet. Normally, galactose is metabolized in the body to glucose, each step in the metabolic pathway being carried out by a specific organic catalyst, or enzyme. In galactosemia, the enzyme that catalyzes the second step, converting galactose-1phosphate to glucose-1-phosphate, is not active. As a result of this metabolic block, there is an accumulation of galactose-1-phosphate in body tissues, and this compound is believed to be the cause of the cataracts and liver damage. Galactose is present in the blood and urine of persons suffering from galactosemia, and there is decreased formation of glucose in the body, which may result in a lowering of the blood glucose level. The mental retardation that is sometimes observed in galactosemic children may be caused by the high galactose level, the low glucose level, or both. It has been estimated that hereditary intolerance to galactose occurs in approximately one in 18,000 infants. Galactosemia is transmitted by an autosomal recessive gene. Unaffected carriers of the trait who mate can expect, on the basis of chance, to have one galactosemic child, two children who are unaffected but are carriers, and one normal child for each four children born. Reliable and simple tests are available to detect carriers of galactosemia and galactosemic newborn infants. The condition can be detected before birth by collecting sample fluid from the amniotic sac. When a lactosegalactose-free diet is initiated early in infancy and maintained during the first three years of life, the

development of liver disease, cataracts, and mental retardation may usually be prevented. In time, an increased tolerance to galactose may develop. Phenylketonuria Is also called phenylpyruvic oligophrenia hereditary inability of the body to normally metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in individuals who have phenylketonuria. As a result of this metabolic block, abnormally high levels of phenylalanine accumulate in the blood plasma, cerebrospinal fluid, and urine. Abnormal products of phenylalanine breakdown can also be detected in the urine. In the tissues, the excess amino acid and its abnormal metabolites interfere with various metabolic processes. The central nervous system, notably, is affected; impairment of some facet of nerve cell function manifests itself by mental retardation, epileptic seizures, and abnormal brain wave patterns, but the mechanism of injury is not known. The first behavioral signs of nerve cell damage are usually evident in an affected child from four to six months old. The retention of phenylalanine in body tissues also inhibits the course of tyrosine metabolism and leads specifically to a decrease in the formation of a product of tyrosinemelanin, the pigment found in the skin, hair, and eye. This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and a fair skin. Phenylketonuria is transmitted by an autosomal recessive gene. About one person in 60 is a carrier of this gene. Statistically, two unaffected carriers of the gene can expect a 25 percent chance of having a child who is phenylketonuric, a 50 percent

chance of having a child who is unaffected but is a carrier, and a 25 percent chance of having a completely normal child. Reliable tests are available to detect carriers of phenylketonuria, as well as infants who have the disorder. Approximately one in 10,000 newborn infants will show abnormally high plasma phenylalanine levels; out of these, about two-thirds will have the classic form of phenylketonuria, which, if untreated, will cause severe mental retardation. In the treatment of phenylketonuria, a diet low in phenylalanine is effective in controlling the body level of this amino acid. Such a diet, which should be maintained until adolescence, is best achieved by the total avoidance of meat, dairy, and other foods high in protein, whose intake is supplied by a special phenylalanine-free protein drink. Pregnant women who have phenylketonuria must resume the diet because the abnormally high levels of phenylalanine in their blood can severely damage an unborn child. Glucose-6-Phosphate Dehydrogenase Is a hereditary metabolic defect characterized by an increased tendency of the red blood cells to break and release their hemoglobin (hemolysis), especially after the intake of certain drugs. The condition is caused, as the name indicates, by the markedly reduced activity in the red blood cells of a particular organic catalyst, or enzyme, called glucose-6-phosphate dehydrogenase. This low enzyme activity is associated with a decrease in the formation of certain substances that normally help to prevent the oxidative destruction of the red blood cell membrane. Under normal conditions, the affected red blood cells are only slightly more fragile than usual, but more than 40 drugs, including chloramphenicol and sulfonamides, all of which are converted in the

body to oxidant compounds, have been shown to produce hemolysis in susceptible persons. There seem to be several variants of the disorder, all of which appear to be sex-linked and fully expressed in males only. The most common form is found chiefly in persons whose ancestors inhabited either Africa or the Eastern Mediterranean basin. A possible protective effect of this metabolic abnormality against malaria has been suggested.

SYNTHESIS Therefore, the newborn screening can detect chromosomal disorders only. Chromosomal disorder is any syndrome characterized by malformations or malfunctions in any of the body's systems, and caused by abnormal chromosome number or constitution. Normally, humans have 46 chromosomes arranged in 23 pairs; the pairs vary in size and shape and are numbered by convention. Twenty-two of the pairs are autosomes, , and one pair, number 23, is the sex chromosomes. Any variation from this pattern causes abnormalities. A chromosome from any of the pairs may be duplicated trisomy or absent monosomy; an entire set of 23 chromosome pairs can be duplicated three triploidy or more polyploidy times; or one arm or part of one arm of a single chromosome may be missing (deletion). Part of one chromosome may be transferred to another (translocation), which has no effect on the person in which it occurs but generally causes a deletion or duplication syndrome in his or her children. Changes in chromosome number occur during sperm or egg formation or in the early development of the embryo. In the latter case, a mixture of cells, some normal (euploid) and some containing abnormal chromosome complements, may occur, a condition known as mosaicism. In either case, abnormalities of development occur because of the unusual genetic signals transmitted by the chromosomes. Some one of these chromosome imbalances occurs in 0.5 percent of all births. Down syndrome (mongolism), trisomy of chromosome 21, was the first chromosomal disorder identified (in 1959); it is the most common trisomy and the most

common cause of mental retardation. Mental retardation is perhaps the most common manifestation of chromosomal abnormalities, occurring to some extent in all major autosomal abnormalities. Several chromosomal abnormalities, including Down

syndrome, have also been related to heart disease or malformations. Other evidence of chromosome abnormalities include abnormal sexual development, behavioral

disturbances, malignancy (e.g., the Philadelphia chromosome in chronic myelocytic leukemia), and spontaneous abortion. Sex chromosome abnormalities are more common and tend to have less-drastic effects than autosomal abnormalities. Normal females have two X chromosomes and males have an X and a Y; abnormalities in sex chromosome distribution produce Turner's syndrome (XO), Klinefelter's syndrome (XXY), and the so-called supermale (XYY). Turner's and Klinefelter's individuals have female and male genitalia, respectively, with retarded development of sexual characteristics. Supermales tend to be taller than average and to have learning disabilities. In addition, some studies have revealed that the percentage of XYY individuals in institutions for the criminally insane exceeds the incidence of supermaleness in newborn male populations. However, many XYY are socially well adjusted, and the link between supermaleness and criminal behaviour is highly debatable. Several chromosomal disorders can now be diagnosed before birth by examining cells obtained from the amniotic fluid.

BIBLIOGRAPHY A Society of Gentleman in Scotland ; Encyclopedia Britannica ; 2000 edition Funk and Wagnalls Company ; Funk and Wagnalls Encyclopedia ; 2004 edition www.columbiaencyclopedia.com Department of Health Magazine ; 2004 editions Fishbein ; Medical and Health Encyclopedia ; 2000 edition Pilliteri, Adel ; Maternal and Child Health Nursing Wongs ; Pediatric Nursing Black ; Medical-Surgical Nursing American Society of Human Genetics and the American College of Medical Genetics. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. American Journal of Human Genetics 57 (1995): 1233-1241. Annas, George J. Mandatory PKU Screening: The Other Side of the Looking Glass. American Journal of Public Health 72 (1982): 1401-1403. Atkinson, Kathleen, Barry Zuckerman, Joshua M. Sharfstein, Donna Levin, Robin J. R. Blatt, and Howard K. Koh. A Public Health Response to Emerging Technology: Expansion of the Massachusetts Newborn Screening Program. Public Health Reports 116 (2001): 122-131.