Pregnancy, breast-cancer risk, and maternal-fetal genetics.
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Biomedical subjects
Publications and source records attributed to D T Janerich.
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The epidemiology of sudden infant death among infants born during 1974 to mothers residing in upstate New York was studied. Death-certificate characteristics for 190 infants with sudden infant death syndrome (SIDS) are compared with those for 434 infants dying of other causes in the same age range. The overall incidence of SIDS was 1.43 per 1,000 live births. No relationship was found between SIDS rate and population density. The SIDS deaths peaked in January, with an overall seasonal pattern compatible with that of viral respiratory infections. The SIDS infants were more likely to die during sleeping hours than infants dying suddenly of other causes. Their age at death distribution is significantly different from that of other infant deaths. Progress in understanding sudden death in infancy is still hampered by the lack of positive diagnostic criteria.
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The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support a genetic aetiology. We found that the full sib recurrence rate (1.8%) was higher than the half sib recurrence rate (0.8%) and the twin concordance rate (6.8%) was higher than the full sib recurrence rate. We found the incidence of ASB in twins to be the same as the incidence of ASB in singletons. Our findings are compatible with polygenic inheritance aetiology for ASB. The genetic molecular pathway of these birth defects may be identifiable through biochemical screening of families with one or more ASB children.
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A random selection of 1,230 upstate New York childbearing women was used to examine the history of oral contraceptive use in women with a clinical diagnosis of benign breast disease. We found that 73 women who had benign breast disease had a reduced duration of pill use. When determining the reason for this reduction, we found that in a significant portion (P less than .05) of our benign breast disease cases, the women had been advised by their physicians to discontinue pill use for breast-related reasons. We then surveyed a large group of upstate New York physicians. One third of them considered benign breast disease a potential contraindication for starting oral contraceptive use. Nearly one half throught the development of benign breast disease to be a potential contraindication for continuing oral contraceptive use. It is premature to conclude that oral contraceptive usage protects against benign breast disease.
One-hundred and four infants with congenital heart disease were identified from their birth certificates and matched with normal controls. Their gestational histories were examined to see whether they had been exposed to exogenous sex hormones. Exposure was 8-5 times more common among the infants with malformations than among controls. A history of hormone exposure was more common among those patients with multiple malformations, and the exposed infants were also more likely to have died (and to have died earlier) than those who had not been exposed, which suggests that hormone exposure causes severe types of malformations. The commonest type of exposure was to hormone pregnancy tests, which was needless exposure. Only two of the mothers of malformed infants had inadvertently used oral contraceptives in the first trimester.
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Investigation of the fertility-rate after discontinuation of use of oral contraceptives shows that the monthly rate consistently follows an oscillatory pattern. This pattern appears to be unique to women who have discontinued the use of oral contraceptives. It may result from synchronisation of a previously unrecognised natural cycle, rebound changes in the reproductive system following steroidal contraception, or an infertile period associated with early intrauterine mortality.
We examined the history of oral contraceptive usage in a group of 103 mothers of infants with Down's syndrome and an equal number of matched normal controls. We found no evidence of increased pill use among mothers of the abnormal infants either during the pregnancy or in the year before pregnancy.
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