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2 Impact and Paherns of Occurrence Birth defects are, in the aggregate, a significant health problem for infants worldwide. The prevalence of individual conditions in differ- ent populations varies with the health care system; use and coverage of preventive strategies; and access to prenatal screening, diagnosis, and possible termination of pregnancy for severe birth defects (Kuliev and Modell, 1990; World Health Organization, 1997, 19991. Data on birth defects in several countries are given in Appendix A (Table A-11. At birth the prevalence is generally in the range of 10-60 per 1,000 live births depending on the conditions included. This number increases when assess- ments are made at one or five years. To understand the patterns of occurrence of birth defects, a system for collecting and monitoring reliable data is needed. Many developing countries lack health-related statistics and registries, and about one-third of all births in these countries an estimated 40 million each year are not registered (Murray and Lopez, 1996; World Health Organization, 1997, 1999; United Nation Children's Fund, 19981. Thus in much of the world, it is difficult to calculate the birth prevalence of birth defects with any precision because the number of infants afflicted and the total num- ber of surviving infants born within a specified time period is not mea- sured. In these circumstances, birth rates and the birth prevalence of disease are approximated from hospital- and community-based studies, which are not necessarily representative of the population as a whole or even the broader community. Notwithstanding these limitations, several studies have established that birth defects are a public health problem in developing countries. In addi- 22
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IMPACT AND PATTERNS OF O CCURRENCE 23 tion, some large-scale programs monitor the occurrence of birth defects in specific regions of the world. These include the International Clearinghouse for Birth Defects Monitoring System (ICBDMS) (see Box 2-11; the Latin American Collaborative Study of Congenital Malformations (ECLAMC) (see Box 2-21; the Chinese Birth Defects Monitoring Program (CBDMP); and the European Register of Congenital Abnormalities and Twins (EURO- CAT), a network of 20 regional registries. Data from these programs and from the research literature inform this chapter's descriptions of the pathol- ogy of birth defects and their patterns of occurrence in developing coun- tries. In this chapter and the next, three categories of causes of birth defects are discussed: genetic, environmental, and complex genetic and unknown (defined in Chapter 11. GENETIC BIRTH DEFECTS Of the birth defects for which a cause has been established, most are due to chromosomal disorders and single-gene mutations. Chromosomal Disorders Sporadic (nonhereditary) losses or rearrangements of genetic material affect at least 10 percent of conceptions, 90 percent of which end in spon- taneous abortion. Surviving infants may have a congenital malformation, mental retardation, and/or disorders in sexual differentiation (WorId Health Organization, 19991. Data from the United States, Canada, and Germany show a birth prevalence of chromosomal abnormalities of 5 per 1,000 live
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24 REDUCING THE IMPACT OF BIRTH DEFECTS births (Hook, 1982); however, the birth prevalence may be higher in popu- lations in which women continue to have children after age 35. This occurs more commonly in countries that lack family planning and access to con- traceptives (WorId Health Organization, 19991. As Table 2-1 shows, the risk of chromosomal abnormalities, and of Down syndrome in particular, increases rapidly with advancing maternal age (Hook, 19811. Chromosomal nondisjunction an error in cell division that admits three, rather than two, copies of one of the chromosome 21 into the cells of the affected zygote causes Down syndrome, in which three copies (tri- somy) of chromosome 21 are present. Trisomies of chromosomes 13 and 18 are also relatively common in live-born infants. Advanced maternal age is the only well-documented risk factor for nondisjunction; however, the mechanism behind the age effect is not well understood (Nicolaidis and Petersen, 19981. Young maternal age (Croen and Shaw, 1995) and ad- vanced paternal age (Kuliev and Modell, 1990) have also been associated with increased risk for birth defects in some, but not all, developed coun- tries. Maternal age-adjusted risks for chromosomal numerical anomalies show little variation across racial and ethnic groups (Carothers et al., 20011.
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IMPACT AND PATTERNS OF O CCURRENCE TABLE 2-1 Maternal Age and Chromosome Abnormalities in Liveborns 25 Total Risk for Chromosomal Maternal Age Risk for Down Syndrome Abnormalities 20 1/1,667 1/526 21 1/1,667 1/526 22 1/1,429 1/500 23 1/1,429 1/500 24 1/1,250 1/476 25 1/1,250 1/476 26 1/1,176 1/476 27 1/1,111 1/455 28 1/1,053 1/435 29 1/1,000 1/417 30 1/952 1/417 31 1/909 1/385 32 1/769 1/322 33 1/602 1/286 34 1/485 1/238 35 1/378 1/192 36 1/289 1/156 37 1/224 1/127 38 1/173 1/102 39 1/136 1/83 40 1/106 1/66 41 1/82 1/53 42 1/63 1/42 43 1/49 1/33 44 1/38 1/26 45 1/30 1/21 46 1/23 1/16 47 1/18 1/13 48 1/14 1/10 49 1/11 1/8 SOURCE: Hook, 1981. Down syndrome (Trisomy 21 ) This is a common chromosomal disorder in which a child is born with three not two copies of chromosome 21. It causes varying degrees of mental and growth retardation, a characteristic facial appearance, and multiple malformations. It is associated with a major risk for heart malfor- mations, a risk of duodenal atresia in which part of the small intestine is not developed, and a small but significant risk of acute leukemia. It frequently results in spontaneous abortion. Congenital heart disease associated with Down syndrome can be fatal and is the major cause of death. Inadequate
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26 REDUCING THE IMPACT OF BIRTH DEFECTS intellectual development can cause severe, lifelong disability and depen- dence. The estimated birth prevalence of Down syndrome in developing coun- tries is higher than in developed countries (see Appendix A, Table A-2) (Kuliev and Modell, 1990; World Health Organization, 19961. The higher prevalence parallels the greater proportion of births to women over 35 years of age noted above an average of 11-15 percent in developing coun- tries versus 5-9 percent in most developed countries. The rates in Catholic countries, such as Ireland and Italy, are closer to those in developing coun- tries. For example, the higher birth prevalence of Down syndrome in South America (1.5/1,000), compared with the average in developed countries (1/ 1,000), can be explained by the higher mean maternal age in that region (Castilla and Lopez-Camelo, 19901. Early infant and childhood mortality from congenital heart disease and other conditions associated with Down syndrome result in a low popula- tion prevalence of the syndrome in most developing countries (Zhang et al., 19911. In South Africa, three-quarters of children with Down syndrome die before reaching 2 years of age (Christianson, 19961. In South America, 34 percent of Down syndrome infants with congenital heart disease and 21 percent without heart problems die before the age of 1 year, about twice the rate in the United Kingdom (Castilla et al., 19981. Trisomy 18 Children with this syndrome have three instead of two copies of chro- mosome 18. The condition causes multiple malformations, profound men- tal retardation, and usually death in the first few months. It occurs in about 1 per 8,000 live births (Hook, 1992) and among stillborn infants. About three times as many females as males are born with trisomy 18, but the ratios are more equal among stiliborns and spontaneously aborted fetuses. Trisomy 13 Children with this syndrome have three instead of two copies of chro- mosome 13. They have multiple malformations, profound mental retarda- tion, and generally die soon after birth or in infancy. The condition occurs in 1 in 20,000 live-born infants (Hook, 1992) and is frequently observed in spontaneously aborted fetuses. This trisomy results in pronounced retarda- tion of intrauterine and postnatal growth and development. Nearly 50 percent of affected newborns die in their first month, and fewer than 5 percent survive past 3 years of age (Magenis et al., 1968~.
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IMPACT AND PATTERNS OF O CCURRENCE Single-Gene Disorders 27 More than 6,000 single-gene (Menclelian or monogenic) clisorclers have been clescribeci (World Health Organization, 1997; Online Menclelian In- heritance in Man, 2002), and many more are suspected. These clisorclers are incliviclually rare but, taken together, are estimated to account for a global birth prevalence of 10 per 1,000 live births (World Health Organization, 19991. Single-gene clisorclers are classified by mocle of inheritance as auto- somal recessive or dominant or as X-linkeci recessive or dominant. For autosomal recessive traits to be expressed, two copies of the mutated gene must be present; thus, if both parents are carriers of the same clisease- causing recessive gene, each chilci has a 25 percent chance of having the disease. Pregnancies from consanguineous marriages marriages generally of first cousins and inclucling second cousins have an increased birth preva- lence of autosomal recessive diseases, which increases the risk of stillbirth, neonatal and chilc~hooci cleath, mental retardation, and birth defects com- pareci with pregnancies among unrelated couples (Jaber et al., 1992~. In most Western urban populations, the frequency of consanguineous mar- riages (Castilla et al., 1991) and of births procluceci from these marriages (Liascovich et al., 2001) is between 1 per 1,000 and 1 per 100. In areas . . . . . . . . w" here consanguineous marriage Is Intrinsic to t" be cu." sure, Inca uc sing parts of the Micicile East, South Asia, and Africa (Bittles et al., 1991; Khiat and Khoury, 1991; Khiat et al., 1997; Durkin et al., 1998; Mokhtar et al., 1998), 20-60 percent of all marriages involve consanguineous unions. Woric~wicle, consanguineous marriages occur regularly in at least 20 per- cent of the population, and as many as 8 percent of all children woric~wicle have parents who are related (Kuliev and Moclell, 1990; World Health Organization, 1996; Hussain and Bittles, 1998; Christianson et al., 2000~. The relationship between consanguinity and birth defects has been explored in several studies. In one stucly, for example, 93 percent of Pales- tinian Arabs who are parents of children with rare autosomal clisorclers were founci to be related, compared with a consanguinity rate of 44 percent among the general population (ZIotogora, 1997~. This stucly also founci higher-than-average rates of consanguinity among parents of children with neural tube defects (NTDs), cleft lip and palate, and other congenital mal- formations. NTDs were shown to be associated with consanguinity in stuci- ies conclucteci in the United Arab Emirates (Al-Gazali et al., 1999) and in Saucli Arabia (Murshici, 2000~. Major malformations (inclucling but not limited to nervous system anomalies) were founci at significantly higher rates among children of consanguineous parents in south India (Kulkarni and Kurian, 1990) and in an Israeli Arab community (Jaber et al., 1992~. The single-gene clisorclers best clocumenteci in cleveloping countries in-
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28 REDUCING THE IMPACT OF BIRTH DEFECTS clude hemoglobin disorders, such as thalassemia and sickle cell disease, and glucose-6-phosphate dehydrogenase deficiency; oculocutaneous albinism, important in Africa; cystic fibrosis, the most common potentially fatal genetic disease among Caucasians, long considered rare in non-Caucasian populations but recently attracting increased attention; phenylketonuria (PKU); and hemophilia A and B. For several hemoglobinopathies, including or- and p-thalassemia and sickle cell disease, the mutation that causes the disorder also interferes with infection by the malaria parasite. This confers a selective advantage on carriers living in malaria-endemic areas, thereby explaining the increased frequency of these hemoglobinopathies in popula- tions of African and Mediterranean ancestry. Thalassemias These are a group of inherited blood disorders in which production of hemoglobin is deficient as a result of mutations in the genes that synthesize the or- and p-globin chains of the hemoglobin. Abnormal hemoglobin (Hb) genes are believed to have originated in Africa, Asia, and the Mediterranean basin and may have remained at high frequencies because of the previously noted selective advantage of malaria resistance conferred on the heterozy- gous carriers of such genes, who do not usually exhibit symptoms of thalas- semia (Weatherall, 1997; Sweeting et al., 19981. Thalassemias are generally more prevalent than sickle cell disorders in the Eastern Mediterranean region, North Africa, South Asia, East Asia, and the Pacific. p-Thalassemia, the most common thalassemia, involves a defect in the production of p-globin chains, which decreases production of normal adult hemoglobin (Hb A). It occurs most often among people of Mediterranean descent. Clinically this condition includes p-thalassemia major, the ho- mozygous state, and p-thalassemia minor, the heterozygous (carrier) state, which is usually asymptomatic. Children with p-thalassemia major do not present symptoms in the first months of life, then, in the second 6 months, they often fail to thrive and may suffer from recurrent bacterial infections, severe anemia, hepatosplenomegaly, and bone expansion, which give rise to classical thalassemia facies. Left untreated, severe p-thalassemia is fatal in childhood or early adolescence; with regular transfusions, patients live into their twenties and even longer if treated to prevent iron overload. Because of the difficulty and expense of treatment, children with p-thalassemia in poorer countries rarely receive adequate care and die young (Weatherall and Clegg, 20011. Oc-Thalassemia, the heterozygous state (with a single gene for oc-thalas- semia) is innocuous or harmless. The homozygous state (with both genes for oc-thalassemia) can be lethal before birth. The compound heterozygous forms produce a condition of variable severity known as Hb H disease,
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IMPACT AND PATTERNS OF O CCURRENCE 29 with symptoms that include moderate to severe (transfusion-dependent) anemia and splenomegaly. oc-Thalassemia is most prevalent in Asia. Several populations have been screened to determine the prevalence of thalassemia genes and traits (see Appendix A, Table A-31; or and p-thalas- semia have a high incidence in a broad geographical band extending across the Mediterranean basin and parts of Africa, through the Middle East, and across India, Southeast Asia, and the Pacific Islands (see Figure 2-11. In these areas, carrier frequency for p-thalassemia ranges from 1 to 20 per- cent. Carriers of the milder form of p-thalassemia range from 10 to 20 percent of the population in parts of sub-Saharan Africa to 40 percent or more in parts of the Middle East and India, and higher in northern Papua New Guinea. Carriers of the more severe form of oc-thalassemia occur at i: :~' i ~ Hi, or- and p-Thalassemia W;,.~t~ ma] - use ~ ~~, FIGURE 2-1 Global distribution of or- and p-thalassemia. SOURCE: World Health Organization, 2001. " 'it ~ ': rim
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Representative terms from entire chapter:
30 REDUCING THE IMPACT OF BIRTH DEFECTS high frequencies only in parts of Southeast Asia and the Mediterranean basin; therefore, oc-thalassemias pose less of a global health problem than p-thalassemias (Weatherall and Clegg, 20011. Sickle cell disease This is a genetic blood disease that results from the pairing of an abnormal hemoglobin S (HbS) with another abnormal hemoglobin. Het- erozygote carriers have the largely asymptomatic sickle cell trait (HbAS); homozygotes (HbSS) have variable symptoms and are said to have sickle cell anemia; and HbS compound heterozygotes, the most prevalent being ~1 ID ~ ~ _ ~ ~ _? (A ~ ~ , it' ~~ . ~ ~ S ~ / ~ Jet , ~ - ~ ''' :.-~: J I'
IMPACT AND PATTERNS OF O CCURRENCE 3 hemoglobin C (HbSC) and hemoglobin E (HbSE), have the most severe symptoms. The global distribution of hemoglobins S and E is shown in Figure 2-2. The hemoglobin molecules in red blood cells stick to one an- other and cause the red cells to become crescent or sickle shaped. Sickled cells cannot pass easily through tiny blood vessels. Sickle cell disease affects millions of people worldwide but is particu- larly common among people from sub-Saharan Africa; Spanish-speaking regions; Saudi Arabia; India; and Mediterranean countries. The high fre- quency of sickle cell disease in these populations is attributed to the lower rates of mortality from malaria infection among carriers, who are asymp- tomatic, compared with noncarriers (Ashley-Koch et al., 20001. Relatively high rates of consanguineous marriage in the Eastern Mediterranean region have increased the prevalence of sickle cell disease in that population as well (WorId Health Organization, 1997~. Children with homozygous sickle cell disease or sickle cell anemia are susceptible to episodes of painful vaso-occlusive crises and chronic anemia and are at increased risk for developing infections, particularly Streptococ- cus pneumoniae, which can cause fatal sepsis, meningitis, or pneumonia. In sub-Saharan Africa, many children with sickle cell anemia die early in life (Weatherall and Clegg, 20011. While survival is influenced by several vari- ables, there is a general correlation with the frequency of crises. Extensive vaso-occlusive crises can cause ischemic damage and infarction, with result- ing splenic dysfunction, "acute chest syndrome," impaired renal function, and stroke. Patients with more than three crises per year live to a median age of 35 years, while those with fewer than one per year may live into their forties (Fauci et al., 20011. Epidemiological studies of sickle cell disease have reported a wide range of prevalence rates among, and even within, developing countries (see Ap- pendix A, Table A-41. In Nigeria, sickle cell carrier frequencies have been estimated at 25 percent in the south and 19-33 percent in the north (Akinyanju, 1989~. HbC is less common in this population, but carrier rates of 5-7 percent have been reported in the Yoruba of southwest Nigeria. Combined, these carrier rates would be expected to result in about 90,000 births per year in Nigeria alone. However, the prevalence of the disease in the general population is low because 70 percent of patients with sickle cell anemia (HbSS) die undiagnosed in childhood (Akinyanju, 1989; Anga- stiniotis et al., 19951. Sickle cell disease is also common in countries with a high proportion of African migrants. Thus in Cuba, where 30-40 percent of the population has African ancestry, the carrier frequency is 3-6 percent (Granda et al., 1991, 19941; in Brazil, the carrier frequency among people of mixed ances- try is 4.7 percent and among people of African origin is 6.2 percent (Salzano, 19851.
32 REDUCING THE IMPACT OF BIRTH DEFECTS Glucose-6-phosphate debydrogenase (G6PD) deficiency This enzyme defect results from recessive mutations in the gene for the enzyme G6PD, which is carried on the X chromosome. Hundreds of vari- ants of G6PD deficiency have been identified among the 400 million people estimated to be affected worldwide. Individuals deficient in G6PD are vul- nerable to developing acute hemolytic anemia as a result of infections, exposure to oxidant drugs (the antimalarial, primaquine, and the sulfona- mide antibiotics or sulfones), or chemicals (naphthalene in mothballs), or ingestion of fava beans. Severe hemolysis in these cases can be fatal (Steensma et al., 20011. Some affected newborns develop severe hemolytic jaundice and kernicterus, which can result in death or serious neurologic . . Impairment. The disorder is most prevalent in Central, West, and East Africa; the Eastern Mediterranean; and South and East Asia (Verjee, 1993; El-Hazmi and Warsy, 1 996; World Health Organization, 1 989, 1996, 1997~. As with thalassemias and sickle cell disease, carriers of G6PD deficiency have a selective advantage against infection by malaria (Roth et al., 1983), which increases the frequency of these carriers in populations of African and Mediterranean ancestries (Allison and Clyde, 1961~. About 7.5 percent of the worId's population carry a gene for G6PD deficiency, and about 3 percent are deficient in the enzyme; however, there is large regional variability. In Africa, for example, carrier frequencies as high as 35 percent have been reported (WorId Health Organization, 1989~. Appendix A (Table A-5) lists selected studies of G6PD prevalence among groups ranging from children in a few schools to national surveys of new- borns. Because the condition is X-linked recessive, most of those affected are hemizygous males. However, because of high gene frequency and pa- rental consanguinity in some areas, female homozygosity accounts for nearly 10 percent of cases of G6PD deficiency. In addition, 10 percent of heterozy- gote females are G6PD deficient as a result of unequal X chromosome . . . Inactivation. Oculocutaneous albinism This is an autosomal recessive disorder affecting the pigmentation of skin, hair, and eyes. There are several types of oculocutaneous albinism: in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, the normal tyrosinase cannot enter pigment cells. The compound heterozygote is normal so the two forms are not allelic. This birth defect is rare in many parts of the world, but in subtropical Africa it ranks as the most prevalent single-gene disorder. The high risk of squamous cell carcinoma is the most serious consequence of oculocutaneous albinism. Early mortality from
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