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Until recently, infectious diseases and malnutrition-related disorders constituted the major cause of ill health and mortality in the world population. However, advances in treatment of such disorders and increased understanding of the molecular basis of heredity have led to genetically transmitted conditions becoming a major cause of morbidity and mortality. Several disorders, including chromosomal (Down syndrome, Turner syndrome), single-gene (sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, haemophilia, inborn errors of metabolism) and multifactorial disorders (coronary artery disease, arteriosclerosis, diabetes mellitus, hypertension, obesity) are common and becoming increasingly important. As there is no agreed-upon definitive cure with acceptable risk, these disorders are a significant burden on the health care delivery system. This is because the chronic nature of genetic diseases requires lifelong medical attention, expensive supportive and symptomatic therapy and specialist care. This review outlines the genetic disorders, their impact on health care delivery systems and the general framework required to prevent and control these disorders.
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PMID:Spectrum of genetic disorders and the impact on health care delivery: an introduction. 1192 97

Intrauterine tissues (placenta, amnion, chorion, decidua) express hormones and cytokines that play a decisive role in maternal-fetal physiological interactions. The excessive or deficient release of some placental hormones in association with gestational diseases may reflect an abnormal differentiation of the placenta, an impaired fetal metabolism, or an adaptive response of the feto-placental unit to adverse conditions. This review is focused on the applicability of hormone measurements in the risk assessment, early diagnosis, and management of pregnancies complicated by Down's syndrome, fetal growth restriction, preeclampsia, preterm delivery, and diabetes mellitus. Combined hormonal tests or the combination of hormones and ultrasound may achieve reasonable sensitivity, but research continues to simplify the screening programs without sacrificing their accuracy. Only in a few instances is there sufficient evidence to firmly recommend the routine use of hormone tests to predict maternal and fetal complications, but the judicious use of selected tests may enhance the sensitivity of the risk assessment based solely on clinical and ultrasound examination.
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PMID:Predictive value of hormone measurements in maternal and fetal complications of pregnancy. 1194 44

As the child with Down syndrome enters the second decade of life, some of the original medical issues, such as cardiac, vision, and hearing problems, continue to concern parents. Dermatologic and podiatric problems may become particularly bothersome. Although the child may be doing well, monitoring for thyroid and celiac disease continues to be needed. Continued vigilance is needed for arthritis, diabetes, leukemia, neck subluxation, and seizures. Prevention and treatment of dental and obesity problems are important. Psychiatric and behavioral problems may compromise the adolescent's opportunities. Sexuality and the associated issues of abuse, pregnancy, and menstrual hygiene must be addressed.
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PMID:Medical care and monitoring for the adolescent with Down syndrome. 1198 41

A case-control study of 514 infants with confirmed Down's syndrome (DS) was carried out during the period 1 July 1995-30 June 2000 to investigate the risk factors for the occurrence of congenital anomalies among DS cases. Our results showed that the significant risk factors for developing any type of congenital anomalies among DS were: parental consanguinity, grand-maternal consanguinity, use of antibiotics, use of oral contraceptive pills, diabetes mellitus, and maternal fever. The interaction between trisomy 21 genes and consanguinity and/or environmental factors can increase the risk of several additional birth defects.
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PMID:Major birth defects among infants with Down's syndrome in Alexandria, Egypt (1995-2000). 1220 Sep 89

The family planning program is not restricted to population control; it also aims at the wider aspect of family welfare and human health. A large number of human diseases are due to genetic abnormalities. Examples are mongolism (Down's syndrome), ovarian dysgenesis (Turner's syndrome), nonfunctional testes (Klinefelter's syndrome), chronic myeloid leukemia, anemia, thalassemia, congenital malformations, and schizophrenia. Mental defects include imbeciles and the feebleminded. Constitutional diseases include diabetes, idiopathic epilepsy, pernicious anemia, and some thyroid abnormalities. Some chronic diseases also have a significant genetic component in their etiology, such as asthma and other allergies. About half of the stillbirths and embryonic wastage are suspected of being due to genetic malformations. Consanguinity has an important bearing on malformations and developmental anomalies. In India, where consanguinity is more frequent, malformations per 1000 births were 8.6 and 3.1 in 2 centers studied. Neural tube defects, harelip, cleft palate, and malformations of the gut and of limbs were prevalent. The population that needs genetic counseling is not large. Persons suffering from hereditary dise ases having a high risk of transmission should be advised to refrain fro m having children. A correct diagnosis, complete family history, and kn owledge of the literature on inherited disease is needed by the counselo rs. Family planning programs should include genetic counseling.
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PMID:Genetic counselling in family planning. 1225 20

A study of the risks of late pregnancy for mothers and their children indicates that there is still excess risk for mothers over age 35 but the difference is decreasing relative to the general population. National surveys of pregnancy and delivery conducted in France in 1976 and 1981 were the major source of data, supplemented by records of women giving birth in the Clinic Baudelocque, a university clinic in Paris, and by foreign data. Maternal mortality in France among women 35 and over declined from 71.7/100,000 in 1975 to 39.6/100,000 in 1983, at the same time that maternal mortality in the general population declined from 19.9 to 15.5/100,000. The risk of mortality for mothers over 34 was 3.6 times higher in 1975 and 2.6 times higher in 1983 than for the general population. In a series of 3858 pregnancies overall and 544 among women over 34, the rates of hypertension were 9.2% for all mothers and 12.3% for older mothers, while the rate for diabetes was 1.1% for all mothers and 2.4% for older mothers. Rates of proteinuria and urinary infection were about the same for the 2 groups. Rates of stillbirth in 1983 were 13.0/1000 for children of mothers 35 and over 7.6/1000 for the population at large. The frequency of trisomy 21 is very closely related to age, but the excess risk due to age is declining as result of more frequent antenatal diagnosis among older mothers. By 1976, the risk of prematurity of low birth weight was almost the same for infants of older mothers as for the population at large. Rates of prematurity were 5.6% for the general population and 5.9% for older mothers, while rates of birth weight under 2500 g were 5.2% for the general population and 5.6% for older mothers. The number of prenatal visits increased more for mothers over 34 years old than for the general population between 1976-81; in 1981, 46.4% of older mothers but only 32.3% of the general population had more than 7 prenatal consultations. The proportion of older mothers in the labor force and with university education increased considerably between 1976-81. 2 factors appear to have played a role in the improved health of older mothers and their children, improved prenatal surveillance and changes in the characteristics of the older mothers themselves. Data for England indicate that risk of prenatal mortality varies as a function of the father's occupation. The excess risk for infants of older mothers in England tends to disappear for children of the highest social classes.
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PMID:[Pregnancy after 34 years: risks and evolution of risks]. 1228 Dec 43

In 1997, Narchi and Kulaylat, studying the incidence of Down syndrome in infants of gestational diabetic mothers, concluded that maternal diabetes increases the risk for Down syndrome, but failed to control the maternal age in their analysis. Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we analyzed the relationship between Down syndrome and maternal diabetes mellitus, and maternal gestational diabetes, controlling the maternal age through the pair-matching analysis, stratifying by maternal age and logistic regression analysis. The analyses show that maternal age is related either to Down syndrome as well as to both types of maternal diabetes. Thus, the overall analysis could be confounded by maternal age. Once we controlled the maternal age, the risk of maternal diabetes mellitus for Down syndrome is: odds ratio (OR) = 0.92 (0.41-2.07); P = 0.83. Controlling maternal age in gestational diabetes, the risk is OR = 1.18 (0.61-2.35); P > 0.70. Based on our results, we conclude that Down syndrome is related to maternal age, but does not seem to be related to any type of maternal diabetes.
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PMID:Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome. 1291 May 4

Pregnancy-associated plasma protein A (PAPP-A) is an important pregnancy protein. PAPP-A exists in pregnancy serum as a heterotetrameric 2:2 complex with the proform of eosinophil major basic protein (proMBP), forming an approximately 500 kDa and called PAPP-A/proMBP. The gene of PAPP-A has been assigned to human chromosome 9q 33.1. PAPP-A belongs to the metzincin superfamily of metalloproteinases. It contains five short consensus repeats (SCR) and three the lin-notch repeats (LNR) and in addition a putative Zn binding site. The main site of both PAPP-A and proMBP synthesis during pregnancy is the placenta as shown by in situ hybridization. PAPP-A seems to be the predominating IGFBP-4 proteinase in pregnancy serum. In the women the levels of PAPP-A are highest during pregnancy, when plasma levels increase by a factor of about 150 as compared to the nonpregnant state. PAPP-A is the most abundant in the peripheral maternal circulation. Determination of PAPP-A in pregnancy serum has a limited value in some complication in gravidity such as a threatened abortion, ectopic gravidity, preeclampsia or diabetes mellitus. PAPP-A determination will gain increasing importance since this protein seems to be the major biochemical marker of Down syndrome in the first trimester of pregnancy. Maternal serum levels of PAPP-A in the first trimester are significantly reduced when a fetus affected by Down syndrome is present. Low first trimester maternal serum levels were found not only in trisomy 21 but also in non-Down syndrome fetal aneuploidies. Another contribution of PAPP-A determination may be in differentation of stable and unstable angina pectoris. (Tab. 3, Fig. 5, Ref. 78.)
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PMID:Pregnancy-associated plasma protein A (PAPP-A): theoretical and clinical aspects. 1244 65

Celiac disease is a genetically determined, permanent intolerance to gluten, a protein complex found in wheat, rye and barley. As many as 1:163 people are affected by it, but only a small percentage are aware of the condition, which begins either in infancy, with gastrointestinal symptoms, or in childhood and later years with non-Gl signs and symptoms, such as fatigue, depression, anxiety, anemia, stunted growth, and delayed puberty. A strong association with Type 1 diabetes and Down syndrome is also found, thus making screening mandatory for these subjects. Celiac disease is often entirely clinically silent, yet it must be detected in order to prevent long-term complications.
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PMID:Celiac disease. 1268 13

We evaluated the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy to increase the risk for birth anomalies in Down syndrome infants in Alexandria, Egypt. A case-control study on 514 infants with confirmed Down syndrome was carried out from 1 July 1995 to 30 June 2000. Genetic, biological, environmental and reproductive factors were analysed. Multiple logistic regression analysis showed the following factors to be independently associated with increased risk of congenital heart diseases among Down syndrome patients: parental consanguinity, maternal parents' consanguinity, mother's antibiotics use in pregnancy, oral contraceptive use and diabetes in the mother. Fever in the mother during pregnancy was associated with increased risk of gastrointestinal anomalies.
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PMID:Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors. 1269 Jul 65


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