The skin loses its elasticity. Stretch marks are permanent scars. However, innovative treatments can reduce the appearance of stretch marks. During the consultation, your doctor will recommend the appropriate treatment for your type of stretch marks. PRP stimulates the production of collagen and elastin, treats acne scars and stretch marks and generates hair growt…. Please leave this field empty. Stretch marks. The color and appearance of stretch marks differ.
There are 2 types : Red stretch marks striae rubrainflammatory: following the stretching of the epidermal layer, the blood vessels of the dermal layer become visible. Such programs are more demanding of resources and highly trained staff than are programs for basic reproductive health care; but, when introduced after basic reproductive health care services have reduced mortality, they too can be cost-effective. Genetic screening of populations identifies clinically normal individuals who have genotypes associated with a birth defect or who are at high risk of producing offspring with a birth defect.
It aims to identify as many affected individuals as possible, but screening alone does not detect all individuals at high risk. Diagnosis usually follows a positive screening test and it provides a high level of accuracy.
Genetic screening programs can involve preconceptional detection of risk factors associated with birth defects, also prenatal and neonatal screening and diagnosis of birth defects. The criteria for establishing screening programs for genetic disorders are presented in the next section, followed by a discussion of the important role of genetic counseling in any screening effort.
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The specific goals and methods of preconceptional, prenatal, and neonatal screening for birth defects follow, then ethical considerations of screening, diagnosis, and prevention or treatment. Screening programs need to be tailored to the health priorities of each community as determined by epidemiology, demographics, resources, and the capacity of health care services.
The following prerequisites guide the determination of which birth defects can benefit from genetic screening Simpson and Golbus, ; Cuckle and Wald, :. Blood transfusions combined with iron chelating therapy allow many people with the disorder to survive into their twenties and thirties. A more expensive and higher-risk option—stem cell transplant from bone marrow or cord blood—can cure the disorder but is not affordable gateau regime banane low-income populations.
Control of Thalassemia in Iran. Iran has a population of 67 million, is a middle-income country, and spends 6 percent of its gross national product on health services, which are exemplary United Nations Children's Fund, ; Shadpour, Thirty more Hospital-based prenatal screening programs in Thailand Jaovisidha et al. At-risk couples are offered prenatal diagnosis and, if severe thalassemia is diagnosed, the option to terminate the pregnancy.
More than 60 percent of all births of children with SCD or other major hemoglobin disorders occur in Africa, the region with the most limited resources for addressing these conditions Angastiniotis et al. Thus, while there are treatments for SCD, cost-effective measures to educate at-risk couples and communities about SCD and reduce the number of children born with sickle cell anemia HbSS appear to be important, but have not been recognized as a priority.
To date, Cuba is the only country in Latin America Angastiniotis et al. National Genetic Screening in Cuba. Inin response to the increasing proportion of infant mortality and morbidity attributable to birth defects and the local development of appropriate diagnostic screening tests, Cuba initiated a national program more As with thalassemia, primary prevention of SCD can be achieved through preconceptional genetic screening and counseling of couples at risk for having a child with the disease, while secondary prevention can be provided through prenatal screening and counseling, which may be followed by prenatal diagnosis and the possibility of terminating affected pregnancies.
Where genetic screening is not available, couples who have given birth to a child with SCD should be advised on the risk for future pregnancies. Where screening for sickle cell trait and disease is undertaken, neonatal screening permits the early treatment of SCD.
It also provides the opportunity to educate parents on the care of affected children and the risk for future pregnancies. The potential harm that could result from false-positive and false-negative results should be carefully considered. Treatments for SCD include measures to reduce the symptoms and severity of anemia and prevent potentially fatal infections penicillan prophylaxis and pneumococcal vaccineto which SCD patients are especially susceptible Lees et al.
Hydroxyurea can prevent vaso-occlusive crises Koren et al. Bone marrow transplantation is available in high-resource settings Kate,but rarely in developing countries. Some homozygotes with high levels of fetal hemoglobin may need little more than long-term folate supplementation, while others require aggressive supportive care, frequent hospitalizations, pain relief, and transfusions Steensma et al. Pulmonary symptoms require immediate attention since acute chest syndrome is a major cause of death Vichinsky et al.
In some developing countries, SCD goes largely undiagnosed and leads to high mortality during the first 5 years of life Akinyanju, ; Angastiniotis et al. Under such circumstances, health education is a priority, since there is no chance for prevention or treatment in populations where SCD is not recognized and diagnosed. Where treatment for SCD is unavailable—such as in tribal areas of Maharashtra, India—a combination of health education and genetic screening has been suggested as the most effective means of reducing the impact of SCD Kate, The primary effects of G6PD deficiency are hematological Verjee,so most interventions focus on reducing the occurrence and severity of hemolytic crises.
These episodes can be precipitated by infections such as hepatitis or pneumonia; exposure to certain chemicals and oxidative medications, including some antimalarial drugs; and consumption of fava beans Chatterjea, ; Meloni et al. Avoiding these triggers for hemolysis requires that affected persons be diagnosed and counseled.
Occasionally those with the Mediterranean form of the deficiency and those in hemolytic crisis require a blood transfusion. Elevated bilirubin levels, elevated reticulocyte count, and low red blood cell count and hemoglobin levels are signs of G6PD deficiency. In the neonate, hyperbilirubinemia may be severe and, if left untreated, can cause bilirubin encephalopathy. Screening tests—fluorescent spot test, ascorbate cyanide test, MTT staining test, methemoglobin reduction methods, and dye decolorization Verjee, —are quick, easy, inexpensive, and suitable for large populations.
The diagnosis is confirmed by enzyme assay Meloni,but the definitive assay requires laboratory equipment that is not usually available in the countries where G6PD deficiency is common. Screening the family members of a patient with cystic fibrosis CF can detect the CF gene in 60—90 percent of carriers Grody et al.
An early diagnosis is key for prevention of CF since many high-risk couples have a second affected child before the diagnosis has been established for the first child Rabbi-Bortolini et al. Prenatal screening programs have not become routine even in developed countries Haddow peche blanche regime al.
The most important diagnostic test for CF in developing countries is the sweat electrolytes test Mahashur, Screening tests include DNA testing, fecal fat, upper gastrointestinal and small bowel series, and measurement of pancreatic function. In Latin America, CF is underdiagnosed because of high mortality rates from pulmonary and gastrointestinal diseases and limited access to the sweat test Macri et al. Ideally, treatment of CF would involve a multidisciplinary team physician, physiotherapist, nutritionist, and social worker to provide conventional therapy antibiotics, pancreatic enzyme replacement by ingestion of capsules with meals, and nutritional support and treatment for CF-associated complications Mahashur, ; Zar et al.
Such an intensive approach is not available or cost-effective in many settings. Screening for PKU is done with the relatively inexpensive Guthrie test on filter paper blood specimens. The timing of the screening is critical, so the specimen should be obtained in the hospital of birth as close to discharge as possible. Because second tests are unlikely to detect new cases, resources are best directed at improving the primary screening Cunningham, The number of infants born at home and thus not diagnosed is undetermined.
The mainstay of treatment is a phenylalanine-restricted diet. By limiting daily consumption to only — milligrams of phenylalanine per day, a positive nitrogen balance and safe plasma levels of phenylalanine can be maintained. The amino acid supplements, which are taken with vitamin and mineral supplements are not palatable, which makes compliance with the restricted diet difficult Cunningham, ; Poustie and Rutherford, The diet should begin as soon after birth as possible and be continued as long as the patient is able to comply.
While a phenylalanine-restricted diet has been shown in nonrandomized studies to reduce blood phenylalanine levels and improve IQ and neuropsychological outcome, the evidence is inadequate for determining a safe upper level of phenylalanine and when, if ever, dietary restrictions can be relaxed Poustie and Rutherford, Because early dietary treatment has proven successful, affected women now become potential mothers Cunningham, Avoiding mental retardation and other problems in their offspring requires that they resume the restricted diet prior to and throughout pregnancy to avoid phenylalanine levels that would be toxic to the fetus and cause severe mental retardation, birth defects, heart disease, and low birth weight.
Because hemophilias A and B are relatively uncommon, prenatal screening should be restricted to families with a history of the disorder. A fetal blood sample can be used for diagnosis of genetic disorders of red cells, white cells, or platelets and for identification of clotting factor deficiencies. Amniocentesis, chorionic villus surpoids et douleurs abdominales, or a placental biopsy are used to obtain cells for cytogenetic or biochemical analysis and to isolate fetal DNA Weatherall and Letsky, Male patients with severe hemophilia are often diagnosed shortly after birth because of an extensive cephalohematoma or profuse bleeding at circumcision.
Neonates suspected of having hemophilia should receive screening tests for hemostasis, including a platelet count, bleeding time, and blood clotting ability Handin, Treatment is complicated and expensive, which limits its usefulness for most developing countries. In Turkey, a program using intermediate concentrates rather than high-purity concentrates or recombinants and a twice-weekly regimen instead of three times a week reduced the cost of therapy Kavakli et al.
A rehabilitation center in India has reported a program for preventing and treating acute hemarthrosis in which the patient is taught a series of exercises that facilitate absorption of the hematoma to improve joint range and maigrir à tout prix m6 neuve muscles, which reduces the frequency of bleeding Kale, Many centers have organized home care programs so that patients can administer their own factor VIII infusions with the onset of symptoms Handin, Local health clinics can give injections to hemophiliacs.
Home and local care spare limited health personnel resources and solve problems of transportation and absenteeism from school and work. An alternative may be to import blood products. Counseling, an integral component of screening for genetic risk, assists couples or mothers by educating them about genetic risks and reproductive choices, thereby allowing them to make free and informed decisions Hogge and Hogge, ; Biesecker, Prior to screening, counselors describe the conditions that can be identified and the available screening tests, diagnostic methods, and options for preventing or treating birth defects.
The limitations of screening tests are explained, along with the goal of identifying high-risk pregnancies that may require invasive follow-up tests to obtain a diagnosis.
Women or couples who do not see an advantage in having the diagnosis or do not wish to confront the options raised by the results of the screening process may decline to be screened.
If they request screening, the counselor explains the test results and answers questions. When counseling those who had a positive screening test, the counselor provides information on the diagnosis, etiology, prognosis, and consequences; describes options for prevention; and responds to questions or concerns. Counselors must be able to obtain accurate information and communicate clearly and respectfully. Printed explanations can be used as a reference and to convey information to family and friends.
The counselor should avoid judgments and provide factual knowledge that empowers women or couples to make their own decisions. Counseling those with a previous abnormal pregnancy can be particularly challenging because anxiety can interfere with the ability to understand and retain information. These cases may require extra time to review the genetic history and answer questions. Where possible, families need to be reassured that they could not have prevented an abnormal pregnancy and to receive guidance on the risk for future pregnancies.
When a birth defect does not carry a risk for future pregnancies, counseling can relieve much of the anxiety. With appropriate training, a variety of health care professionals may serve as genetic counselors. In some settings, primary care workers are well positioned to counsel because they are known in the community, which can increase the trust and respect with which they are received Christianson et al.
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Regardless of their previous medical qualifications, genetic counselors need to be trained and tested in the content and delivery of information. The content of each consultation should be documented and monitored. Genetic counselors provide an important linkage between health care and the social, religious, and legal underpinnings of society, which together determine the availability of reproductive choices.
Preconceptional screening has the advantage of identifying and counseling couples at high risk for producing a child with a birth defect before conception. The screening has three components: recording and evaluation of a genetic history, laboratory testing where indicated, and counseling.
Genetic histories can identify clinically normal couples at risk for passing an inherited birth defect to their offspring and carriers of abnormal recessive genes who are at risk of passing a disorder to their children.
Individuals at high risk can be screened and, if determined to be at risk, should receive counseling and other appropriate care see Box Indications for Preconceptional Genetic Consultation.
Indication — Previous pregnancy history. A genetic history explores whether a couple is at risk for inherited disorders or for chromosomal abnormalities or mutations that could result in birth defects. Maternal age over 35 years is the most common risk factor for chromosomal abnormalities. Paternal age over 40 years increases the risk of certain dominant mutations McIntosh et al.
Exposure to mutagenic agents should also be determined. Abnormal reproductive outcomes repeated spontaneous abortions, stillbirths, and infants born with birth defects among first-degree relatives siblings, parents, offspringsecond-degree relatives uncles, aunts, nephews, nieces, and grandparentsand third-degree relatives first cousins are reviewed.
Identification of second- and third-degree relatives with birth defects generally does not increase a couple's risk significantly unless the couple is consanguineous. The ethnic origin of each potential parent should be noted because of the higher risk for certain birth defects among particular groups. Genetic histories can be recorded efficiently using a questionnaire that requires only positive responses Simpson and Golbus, Preconceptional screening of national populations or high-risk groups has been undertaken in countries where serious recessive birth defects are prevalent, a reliable test is available, and the condition is amenable to prevention.
Conditions that are common in the developing world and amenable to prevention include thalassemia and SCD. Family planning services provide an ideal setting for genetic screening and the use of genetic histories for the preconceptional prevention of birth defects. Prenatal screening identifies pregnancies at high risk for genetic disorders but is not able to exclude the possibility of a birth defect. Prenatal diagnosis, which generally follows a positive result from prenatal screening, determines with more certainty the presence or absence of a birth defect.
Prenatal screening programs can effectively address populations at high risk for Down syndrome, NTDs, and single-gene disorders Baird, Screening and diagnosis take place before 20 weeks' gestation to allow parents to consider the option of pregnancy termination in the case of severe birth defects or to plan the time and place of delivery in cases where surgery is necessary at birth.
The following procedures are widely used in developed countries for diagnosis and are increasingly available in the larger cities of developing countries. Identification of those at risk for Down syndrome, NTDs, and other fetal abnormalities should involve noninvasive screening methods for those at low risk—younger couples with no family history of these disorders.
This single screen can identify more than 90 percent of first-occurring NTDs in a family, missing only 10—15 percent of all cases Ross and Elias,which are closed NTDs.
Only this selected group rather than all then undergoes the invasive procedures, amniocentesis or chorionic villus sampling, to obtain a definitive diagnosis. Ultrasound technology can be used to identify signs or markers indicating increased risk of a birth defect e. For most high-risk couples, the report of normal ultrasound findings provides considerable relief.
Screening for structural malformations is done at 18—20 weeks' gestation, when fetal abnormalities are large enough to be recognized. Although ultrasonography can detect more than different fetal abnormalities, its appropriate use is limited to those conditions that can be addressed with an effective intervention.
Depending on the setting, these conditions may include serious abnormalities that cause a severe disability for which termination of pregnancy is generally agreed to be justified, fatal abnormalities in which termination of pregnancy avoids waiting until the end of an unproductive pregnancy, and abnormalities where arrangements need to be made for treatment of the neonate immediately after birth. This option is offered only after appropriate, nondirective counseling.
Ultrasound technology is not universally available for population screening because of its expense and requirement for trained staff, but it is increasingly available in the larger cities of developing countries. The quality of screening varies widely with the experience of the operator and the resolution obtainable by the equipment.
Ultrasound-based prenatal screening programs need to be carefully planned and monitored to ensure they are appropriate, viable, and cost-effective. The basic requirements for a cost-effective program include well-maintained instruments, staff who are fully trained in the instrumentation, guidelines on the number and timing of ultrasound examinations, a protocol or checklist of conditions to be examined, and guidelines on the level of screening for each condition.
Screening services must also be adequately supported with counseling services and with diagnostic services for cytogenetic, biochemical, and molecular genetic analyses, all of which also have to be monitored for their cost and effectiveness. It is important to develop and refine pilot screening projects before implementing ultrasound screening nationwide.
Well-planned screening programs are likely to be cost-effective since the treatment and rehabilitation of individuals with severe birth defects are expensive and since many couples choose to terminate a pregnancy if a severe birth defect is identified Baird, These sampling procedures provide cells of fetal origin that can used to identify a chromosomal condition by karyotyping or DNA analysis or a genetic disorder by enzymatic or DNA analysis. Amniocentesis involves the aspiration of amniotic fluid and is the most commonly used procedure.
Chorionic villus sampling CVS involves aspiration of villi using a flexible cannula passed through the uterine cervix or a hollow needle inserted into the maternal abdomen.
Both procedures are guided by ultrasound. Amniocentesis is usually undertaken in the fourteenth to sixteenth week of pregnancy, while CVS can be performed from the beginning of the tenth week until the end of the twelfth week of gestation. Since second-trimester amniocentesis is easier to perform than CVS, particularly for inexperienced operators, it is the more widely used procedure.
CVS can, however, be performed earlier in the pregnancy Gosden et al. Amniocentesis or CVS is typically offered for pregnancies at increased risk for chromosomal abnormalities—risks that once coach minceur totalement gratuit 59 determined solely by advanced maternal age and previous adverse obstetric history but are now increasingly identified by abnormal maternal serum markers and ultrasonographic evidence of early fetal abnormalities Ross and Elias, ; Yang et al.
Fetal karyotyping following amniocentesis is successful virtually percent of the time, and the diagnosis is available in the sixteenth to nineteenth week of gestation. Because of the significant risk of maternal mortality and other major complications of abortion at this stage of pregnancy, early amniocentesis procedures have been developed with the aim of diagnosing severe birth defects prior to 15 weeks' gestation.
Although these techniques make amniocentesis at 11 to 12 weeks' gestation possible, this approach is not generally recommended because it is associated with a higher failure rate, greater fetal loss, and increased birth prevalence of talipes compared with standard amniocentesis Gosden et al. For single-gene disorders such as the thalassemias, SCD, and CF, diagnostic testing of amniotic fluid or chorionic villi is appropriate where there is a family history of such disorders or as a follow-up for high-risk pregnancies identified in a screening test.
Although neonatal screening generally plays a smaller role than prenatal screening, it provides an important opportunity to identify birth defects early in the neonatal period and be able to initiate therapy or surgery early in life. Early, appropriate treatment can prevent or reduce some lethal or disabling sequelae of birth defects. For neonates born in hospitals, screening should occur before they leave.
Even when little can be done to help the infant, accurate diagnosis of birth defects can alert parents to the risks they may face in future pregnancies. In Southeast Asian populations in which G6PD deficiency is common it can also be accompanied by neonatal jaundice and kernicterus.
In these populations, early neonatal screening for G6PD deficiency is important. Affected infants are monitored for several weeks with regular tests of the bilirubin level Weatherall and Letsky, For PKU, congenital hypothyroidism, and other inherited metabolic defects, neonatal screening is the only screening available and it allows early dietary intervention for PKU and thyroid replacement therapy for hypothyroidism, both of which are critical to avoid mental retardation.
Neonatal diagnosis of congenital hip dislocation provides the best chance for correcting this disorder through noninvasive techniques. Prevention, diagnosis, and treatment of birth defects can all benefit from the application of genetic knowledge when appropriate consideration is given to the following principles World Health Organization, :.
Women and couples have the right to be appropriately informed and counseled about the screening services provided, to choose whether to accept them, and to receive continuing support independently of their choice. Before undergoing a screening test, they should be informed of the severity and frequency of occurrence of the birth defect being screened for, the detection rate for the test, the probability of being affected if the result is positive, the follow-up diagnostic test, and the choices available if the diagnostic test is also positive.
If one choice is to terminate the pregnancy, this should be made clear, because some women or couples may not wish to face that choice. There is agreement in many countries that pregnancy termination must not be offered for the purpose of gender selection Wald et al. The entire population of a country or region should be offered the most effective and safe screening service possible, provided it is affordable and judged to be cost-effective compared with alternative screening methods.
Priority should be given to genetic tests involving birth defects that impose the heaviest burdens on the population as a whole. In particular, efforts should be directed at the primary care level toward improving access to genetic screening where it has been judged to be cost-effective World Health Organization, Access to diagnostic procedures that are expensive or hazardous should be limited to those for whom the risk for the birth defect justifies the expense and the risk involved in the diagnosis Wald et al.
A genetic screening service should have the resources to provide all components of screening: testing, patient information, staff education, counseling, diagnostic and treatment services, monitoring, and quality and cost control Wald and Hackshaw, The results of genetic tests should be provided with supportive counseling that does not direct women or couples toward either continuing or terminating a pregnancy when the fetus is afflicted with a severe genetic disorder.
Genetic data should be used only to benefit members of a family or ethnic group—it should never stigmatize or discriminate against them— and should be treated as confidential at all times World Health Organization, Genetic screening services provide an opportunity to profoundly reduce the impact of birth defects in developing countries. Such services are, however, expensive for countries with limited resources for health care because they require highly trained staff, sophisticated equipment, and the support of diagnostic and counseling services.
Even after the initial high cost to establish such services, continued delivery of good quality services requires comment utiliser le corset minceur staff training and rigorous maintenance of the equipment. There is, however, a time for each country when more affordable interventions have substantially reduced infant and neonatal mortality due to more preventable conditions and birth defects become a priority.
By that time treating birth defects can be taking up a substantial and increasing share of health costs and hospital beds, and genetic screening—for common and severe conditions—has been found, even by countries with limited resources, to be cost-effective relative to other health interventions. Examples of national genetic screening programs that have been discussed in this chapter are found in Cyprus, Greece, Iran, and Sardinia for thalassemia, and in Costa Rica and Cuba for a wider set of locally prevalent genetic disorders.
There are more examples of genetic screening programs that have been undertaken in regions of a country, such as the Northern Province of South Africa. Each country will have its own timing on the introduction of genetic screening programs, which is influenced by national and local priorities, the prevalence of preventable birth defects in the population, health care capacity, financial and human resources, and the ability to dedicate substantial additional resources. For many countries, this is likely to become important when other health interventions have reduced the infant mortality rate to the range of 20—40 per 1, live births.
Countries with comprehensive systems of basic reproductive health care that have lowered infant mortality rates to the range of 20 to 40 per 1, can further reduce infant mortality by establishing genetic screening programs. These programs should address severe, locally prevalent conditions with clear screening and diagnostic tests; effective, acceptable strategies for prevention or treatment; and be cost-effective. Counseling, with the goal of enabling individuals to make free and informed health care decisions, including the choice, where legal, to terminate a pregnancy in the case of a severe birth defect, should be integral to all screening and diagnostic programs.
The impact of individual birth defects and of birth defects in the aggregate must be known with some accuracy if priority needs are to be identified and addressed. Epidemiological data can establish the prevalence and health burden associated with birth defects and provide information for establishing priorities for interventions. Regular surveillance provides trends and monitors the clinical- and cost-effectiveness of interventions.
The assessment of neonatal mortality due to birth defects is difficult and expensive, however, since most deliveries in developing countries take place at home, and infant deaths that occur during or shortly after childbirth are rarely recorded in official statistics. As a result, data on total infant mortality and mortality due to birth defects vary widely and are almost certainly underestimates.
Developing countries differ widely in their needs and resources for the establishment of data systems. Further, establishment of a monitoring system competes for limited resources with interventions to reduce birth defects. However, even relatively simple efforts to monitor the birth prevalence of common birth defects see Boxalong with associated death and disability, can highlight priority areas and changes in those areas over time.
This information is key to identifying priority interventions and to their success over time. In only 25 percent of the 5, patients seen at genetic clinics were black South Africans, who at that time constituted 75 percent of the population.
Limited epidemiological information more Collection of epidemiological data on birth defects is necessary to understand the extent of the problem and identify intervention priorities. Depending on the infant mortality rate, the capacity of the health care system, and the resources available, countries should incrementally develop the following:.
Many organizations and parts of government can contribute to the strengthening of health care in developing countries. National leadership and coordination of these organizations and capabilities can vastly improve the quality and equity of health care, including reproductive health care and care of birth defects. Each country should develop a strategy to reduce the impact of birth defects, a framework of activities by which this can be accomplished, and the commitment of health leaders to accomplish these goals.
National programs of basic reproductive health should collect and interpret surveillance data, set uniform standards for the training and performance of health care providers, and foster communication among health care providers, researchers, and policy makers. Each country should strengthen its public health capacity for recognizing and implementing interventions that have proven effective in reducing the impact of birth defects.
This includes monitoring and tuning interventions for clinical- and cost-effectiveness in the local setting. Despite the existence of low-cost interventions for preventing and treating a number of birth defects, the human, economic, and social burdens associated with these conditions remain high. Obstacles to improving care for birth defects include financial constraints; lack of knowledge on the part of health care workers; poor access to medical facilities; and issues surrounding ethnicity, language, religion, and culture.
Governments must be educated on the cost-effectiveness of reducing the impact of birth defects through proven methods of prevention and care, which can be adapted to local resources and needs. Providing the best possible care for patients with birth defects begins with the recognition that such care may require significant financial commitment and that the care that can be provided will vary with the setting World Health Organization, ; Carey, Robust programs of basic reproductive health care and public health campaigns provide a framework for new efforts to reduce the impact of birth defects.
Reducing the impact of birth defects in developing countries can be approached through a three-stage process. The first stage of the process involves low-cost interventions to prevent specific birth defects. The second stage addresses improved treatment and rehabilitation for those with birth defects.
Although generally more costly than the first stage preventive interventions, reducing the disease burden for those with birth defects, is key to providing equitable health care as these individuals can suffer from both the burden of disease and an associated burden of lost social and economic opportunity.
The third stage is important for countries with comprehensive systems of basic reproductive health care and lower IMRs. The screening and diagnosis of genetic disorders can further reduce infant mortality when they are tailored to national health priorities and address common and severe birth defects that can be accurately detected and effectively prevented or managed. Counseling, with the goal of enabling individuals to make free and informed health care decisions, is an essential part of screening and diagnostic programs.
Turn recording back on. National Center for Biotechnology InformationU. Search term. Although the number and severity of birth defects pose a challenge to countries with limited health resources, the process of reducing the impact of birth defects can be undertaken in three stages: 1.
Introduction of low-cost preventive interventions. Family Planning The primary goal of family planning is to provide couples with the knowledge they need to make well-informed decisions concerning whether, when, and under what circumstances to have children. Preconceptional Care Maternal education, literacy, and overall socioeconomic status are powerful influences on the health of both mother and neonate Bicego and Boerma, ; World Bank, ; Rao et al.
Identification of risk factors involves the following assessments Moos, : Medical history to identify preexisting medical conditions, such as insulin-dependent diabetes mellitus, epilepsy, and heart disease, that may pose a threat to the mother and the developing fetus; medications used by the mother; and exposure to rubella and other infectious diseases.
Reproductive history to identify risk factors that have contributed to previous poor pregnancy outcomes, some of which can be addressed through preconceptional and prenatal care. Nutritional profile to determine the overall nutritional status and intake of micronutrients, such as iodine and folic acid. Life-style profile to determine the potential for maternal exposure to infectious agents or recreational drugs such as alcohol.
Prenatal Care An early prenatal visit permits the identification and review of risk factors for the pregnancy and prenatal diagnosis if the fetus is at high risk of having a birth defect. Neonatal Care Where possible, neonatal care should include a complete physical examination at birth or prior to discharge for those born in a clinic or hospital to diagnose detectable conditions. Basic reproductive health care services—an essential component of primary health care in all countries—should be used to reduce the impact of birth defects by providing: Effective family planning.
Effective preconceptional and prenatal care and educational campaigns to stress the importance of such care, and. Neonatal care that permits the early detection and best care locally available for management of birth defects. Discouraging Pregnancy in Women Over 35 The simplest means of preventing Down syndrome and other chromosomal disorders such as trisomies 13 and 18 is to decrease the number of pregnancies among women older than 35 years.
Immunization Against Rubella Rubella infections are common worldwide and are strongly teratogenic. Preventing Other Congenital Infections Primary prevention of maternal infection with herpes simplex virus and Toxoplasma gondii is the only way to prevent mother-to-child transmission of these agents. Herpes simplex virus HSV Where possible and safe, pregnant women with active genital herpes lesions at the time of delivery should deliver by cesarean section to decrease the risk of neonatal HSV.
Toxoplasmosis Pregnant women can avoid exposure to Toxoplasma gondii by washing their hands after handling raw meat, cooking meat until well done, and avoiding contact with cat feces and soil, insects, or other material contaminated with cat feces Essawy et al. Limiting Alcohol Consumption Alcohol consumption during pregnancy causes fetal alcohol syndrome, which is the most common preventable cause of mental retardation Viljoen, Avoiding Teratogenic Medications During Pregnancy Prevention of birth defects due to teratogenic medications such as anticonvulsants, anticoagulants, thalidomide, accutane, and misoprostol requires awareness of the consequences of their use on the part of medical workers and women of childbearing age.
Summing Up The burden imposed by birth defects justifies widespread implementation of the highly cost-effective interventions recommended above. Treatment An important aspect of reducing the impact of birth defects is access to treatment. Talipes or clubfoot Infants with talipes include those whose deformity can be resolved through manipulation and passive stretching, and those who require surgery Porter, Congenital heart disease CHD In developed countries, CHD is diagnosed by ultrasound and repaired during infancy, but most developing countries lack the infrastructure necessary to treat this condition.
Developmental dysplasia of the hip DDH Early diagnosis of DDH and simple, noninvasive postural treatments can prevent a severe and crippling condition. Oculocutaneous albinism For affected children, the symptoms of the disorder can be treated, and health education can improve the home care and, eventually, self-care of affected children and dispel misconceptions that surround the condition.
Rehabilitation Many infants with severe birth defects experience lifelong disability requiring long-term treatment or rehabilitation Carey, ; World Health Organization, a, b. School-based models Educational opportunities for children with disabilities are limited in low-income countries. Institution- and hospital-based models Institutional care and hospital-based services for children with birth defects are present in many low-income countries but serve only a small fraction of the children who need them.
Primary health care model The most comprehensive CBR model is based in the primary health care system and is supported by a national strategy for rehabilitation of children and adults with disabilities including those from birth defects. Psychosocial support Birth defects have serious lifelong consequences for both the patient and the family.
Criteria for Establishing Genetic Screening Programs for Genetic Disorders Screening programs need to be tailored to the health priorities of each community as determined by epidemiology, demographics, resources, and the capacity of health care services. The following prerequisites guide the determination of which birth defects can benefit from genetic screening Simpson and Golbus, ; Cuckle and Wald, : The target condition is serious and relatively common.
Since individuals with less serious birth defects can live fulfilling lives, the conditions that are appropriate for screening are those that are serious or life threatening.
Screening takes place at the best possible time. While screening may be conducted in the preconceptional, prenatal, or neonatal periods, the earlier a diagnosis is made, the more opportunities may be available to prevent a birth defect or minimize its severity. The screening assay clearly distinguishes between individuals who have the condition and those who do not. Since each birth defect is relatively rare, the assay should have a low false-positive rate. Effective and acceptable management strategies are available.
The program is cost-effective. Although the technology is available to screen for many disorders, not all screening is likely to be cost-effective in a given population or health care setting. Sickle cell disorder More than 60 percent of all births of children with SCD or other major hemoglobin disorders occur in Africa, the region with the most limited resources for addressing these conditions Angastiniotis et al. Glucosephosphate dehydrogenase deficiency The primary effects of G6PD deficiency are hematological Verjee,so most interventions focus on reducing the occurrence and severity of hemolytic crises.
Cystic fibrosis Screening the family members of a patient with cystic fibrosis CF can detect the CF gene in 60—90 percent of carriers Grody et al. Phenylketonuria Screening for PKU is done with the relatively inexpensive Guthrie test on filter paper blood specimens. Hemophilia A and B Because hemophilias A and B are relatively uncommon, prenatal screening should be restricted to families with a history of the disorder. Genetic Counseling Counseling, an integral component of screening for genetic risk, assists couples or mothers by educating them about genetic risks and reproductive choices, thereby allowing them to make free and informed decisions Hogge and Hogge, ; Biesecker, Preconceptional Screening Preconceptional screening has the advantage of identifying and counseling couples at high risk for producing a child with a birth defect before conception.
Prenatal Screening and Diagnosis Prenatal screening identifies pregnancies at high risk for genetic disorders but is not able to exclude the possibility of a birth defect. Maternal serum screening Identification of those at risk for Down syndrome, NTDs, and other fetal abnormalities should involve noninvasive screening methods for those at low risk—younger couples with no family history of these disorders.
Fetal ultrasonography Ultrasound technology can be used to identify signs or markers indicating increased risk of a birth defect e. Amniocentesis and chorionic villus sampling These sampling procedures provide cells of fetal origin that can used to identify a chromosomal condition by karyotyping or DNA analysis or a genetic disorder by enzymatic or DNA analysis. Neonatal Screening Although neonatal screening generally plays a smaller role than prenatal screening, it provides an important opportunity to identify birth defects early in the neonatal period and be able to initiate therapy or surgery early in life.
Ethical Considerations Prevention, diagnosis, and treatment of birth defects can all benefit from the application of genetic knowledge when appropriate consideration is given to the following principles World Health Organization, : Respecting the autonomy of individuals and protecting those with diminished autonomy.
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