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Biomedical subjects

E B Hook

Publications and source records attributed to E B Hook.

16 recordsLinked to original sources

Differences in maternal age-specific rates of Down syndrome between Jews of European origin and of North African or Asian origin.

Rates of Down syndrome in livebirths in West Jerusalem in 1964-1975 were studied in relation to the mother's continent of birth or, if she was born in Israel, to the maternal grandfather's continent of birth. In women of European origin the crude livebirth rate of Down syndrome was 1.3 per 1,000 livebirths. This crude rate and the maternal age-specific rates in this group were very close to those observed in a Swedish study and two studies of white livebirths in the United States. For West Jerusalem women of North African or Asian origin the crude rate was about 2.4 per 1,000 livebirths, and at all maternal ages except the youngest their rates were higher than for women of European origin. The summary adjusted relative risk for a Down syndrome livebirth for all those of North African or Asian origin, compared to those for women of European origin, was about 1.56. If attention is restricted to mothers born outside of Israel, the adjusted relative risk for mothers born in Europe, the Americas or English speaking countries of the British commonwealth compared to those born in North Africa or Asia was 1.97, consistent with a two-fold difference in the likelihood of a Down syndrome livebirth between thes two groups. To our knowledge this is the first report of ethnic differences in maternal age specific rates of Down syndrome that cannot be plausibly explained by differences in ascertainment.

Africa

Maternal alcohol and tobacco consumption and their association with nausea and vomiting during pregnancy.

Nausea and vomiting during pregnancy (NVP) has been associated with favorable pregnancy outcome, though little is known about factors influencing its occurrence. In this study, information on NVP in 210 patients at a west coast health maintenance organization was obtained. Smoking and alcohol consumption before and during pregnancy were also estimated in two personal interviews during gestation. In all, 72% of the subjects had NVP in the first 4 months of pregnancy. Smokers had significantly less NVP than non-smokers (52% vs. 79%). Furthermore, NVP in smokers was negatively associated with alcohol consumption before and during pregnancy, with the stronger relation being for alcohol reported in the 6 months before pregnancy; only 46% of smokers drinking more than 1/2 fl. oz. of absolute alcohol daily in this period reported NVP, while 68% of smokers drinking less had NVP. For non-smokers, there was no relation between alcohol use in any period and NVP. The risk of NVP associated with pre-pregnancy drinking was not related to any change in alcohol consumption after conception. These results suggest an interaction between NVP, smoking, and reported alcohol consumption. The association of favorable pregnancy outcome with NVP may be in part a reflection of moderation in maternal alcohol and tobacco use.

Alcohol Drinking

Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally.

In a survey of pregnancies, in which a chromosomal abnormality was diagnosed by amniocentesis but in which the mother did not undergo an abortion, the spontaneous fetal death rate after amniocentesis for 21 fetuses with Down's syndrome was 24 per cent (or 21 per cent, considering 19 singletons only). This rate is significantly greater than the rate of 2.7 per cent among 73 fetuses with less seriously abnormal genotypes reported in this survey or of 3.3 per cent and 3.5 per cent in the Canadian and United States studies of amniocentesis. After midtrimester there is about a sixfold higher risk of spontaneous fetal death for a fetus with Down's syndrome than for one with a normal genotype. At least some (and probably a major fraction) of the discrepancy observed between maternal-age-specific rates of Down's syndrome in live births and those found after amniocentesis is due to spontaneous fetal loss. A similar inference may be drawn for trisomy 18.

Abortion, Induced

Frequency of Down syndrome in livebirths by single-year maternal age interval: results of a Massachusetts study.

An analysis of rates of intra-state Down syndrome livebirths to Massachusetts residents by single-year maternal age interval in 1958-1965 inclusive was carried out. A gradual increase of rate of the Down syndrome occurred from age 20 to about age 31, and a steeper increase thereafter. Different regression equations were derived in the 20-31 and the 33-45 age group. The regression equations were ln y = 0.04515 x -1.45759 for those age 20-31 and ln y = 0.24302x-7.57870, for those age 33-45, where y = rate per 1,000 and x = maternal age. The regression-derived rates are slightly lower than those reported in similar analyses of data from Sweden and New York State, but they are not markedly discrepant.

Adolescent

The ratio of de novo unbalanced translocation to 47, trisomy 21 Down syndrome. A new method for human mutation surveillance and an apparent recent change in mutation rate resulting in human interchange trisomies in one jurisdiction.

The Down syndrome phenotype may be associated with, among other genotypes, an unbalanced Robertsonian translocation producing an "interchange trisomy" with 46 chromosomes, or 47, trisomy 21. Translocations, like specificlocus point mutations, result from a direct change in structural chromosome elements. In contrast 47, trisomy 21 results from meiotic non-disjunction. Mutation rates for interchange trisomies may be followed indirectly by determining the ratio of instances of Down syndrome associated with a new translocation mutation to those produced by 47, trisomy 21, which accounts for the bulk of the Down syndrome phenotype. This genotypic ratio can be analyzed in data from cytogenetic laboratories, clinics, and chromosome registries and does not depend upon intensive chromosome screening of newborn populations. A similar approach can be adopted to follow trends in Patau syndrome. The genotypic ratio, stratified by maternal age, may in addition, provide a sentinel index for changes in human specific-locus mutations and perhaps other adverse health consequences. Analysis of data from the New York State-North-eastern chromosome registry revealed a two- to three-fold increase in the genotypic ratio for both Down syndrome and Patau syndrome for individuals born in 1973, 1974 and 1975 compared to those born in earlier years.

Down Syndrome

Dietary cravings and aversions during pregnancy.

Interviews of 250 women concerning dietary changes during pregnancy were undertaken immediately after delivery. With regard to beverages, of women who regularly drank coffee or alcoholic items prior to conception, almost 30% reported a significant drop in ingestion during pregnancy. For coffee this change was attributed primarily to "endogenous" factors e.g., provocation of nausea or a loss of taste for the beverage. Concern regarding maternal or infant health was the most frequent reason for decrease in alcoholic beverages, although endogenous factors were also mentioned. Soda beverages were also ingested less frequently, predominantly because of dieting. The main increase was in milk consumption, primarily attributed to concern for the infant, but many mothers cited only a craving for the beverage. Other foods for which specific cravings were frequently cited were ice cream, sweets, and candy (particularly chocolate), fruits, and fish. Foods for which aversions outnumbered cravings were meats, poultry, and sauces flavored with oregano. Possible explanations for these changes associated with pregnancy are discussed.

Adolescent