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The montana fetal genetic pathology program and a review of prenatal death in humans

Identifieur interne : 00E739 ( Main/Exploration ); précédent : 00E738; suivant : 00E740

The montana fetal genetic pathology program and a review of prenatal death in humans

Auteurs : T. Opitz [États-Unis] ; Joan M. Fitzgerald [États-Unis] ; James F. Reynolds [États-Unis] ; Susan O. Lewin [États-Unis] ; Art Daniel [États-Unis] ; Linda S. Ekblom [États-Unis] ; Sandra Phillips [États-Unis] ; Jay Bernstein

Source :

RBID : ISTEX:F11F4A191FD8C0865192AFFC59D25505B9B49F72

Abstract

Western medicine is being sensitized to the enormous extent of prenatal death in humans at a time when such deaths, occurring after the first missed period, involve to an ever increasing degree wanted pregnancies conceived by women with rising mean maternal age, decreasing mean fertility, and ever greater desire and intention to assure a good pregnancy outcome. Available data suggest that about two‐thirds of human ova, embryos, and fetuses fail to reach birth or the end of the first year of life, with infant mortality of 1.06%, stillbirth rate of 8/1,000, abortion rate of about 15%, and death rate around the time of implantation estimated at 34%. Based on limited data on sperm, ova aspirated from Graafian follicles in infertile women, direct observation of a few implanting ova, the low rate of human fecundity, and the high failure rate of in vitro fertilization, it seems reasonable to suppose that about 30% of human ova perish at the time of fertilization and before implantation. Most of this prenatal death is attributable to chromosome abnormalities (aneuploidy and polyploidy), estimated to be present at the beginning of development in about half of all human ova or embryos. Parent's anguish about prenatal death and their desire to understand its causes and to prevent recurrence is putting the medical profession under severe pressure to provide diagnostic and counseling services and make available prenatal diagnosis and preventive approaches; this comes at a low point in the ability of Western medicine to respond adequately, especially in the fields of embryology and developmental genetics, clinical teratology, anatomical pathology, and genetic pathology. Unless drastica ameliorative measures are taken, the situation is likely to get much worse, since health insurance pays for only a minute fraction of costs involved and the number of pediatric pathologists devoting major effort to this work in North America has dwindled to a small number without great hope for replacement from younger ranks, primarily as a result of the lack of incentive by the tertiary centers to make fetal genetic pathology (“morphology”) an attractive field to work in. Here we report an effort by a secondary care center to provide such a service—presently more on demand than as systematic effort to reach all at need—in a huge, underpopulated state with birthrate of less than 13,000 and lacking any psecially trained pathologist with a strong interest int he field. The reson this is less quixotic than might appear at first is because the Montana Fetal Genetic Pathology Program is being conducted in collaboration with the Pediatric Pathology Program of the University of Wisconsin directed by Dr. Enid F. GIlbert, a world leader in the field, to guarantee the highest standards of performance and interpretation of findings. Preliminary data on the first 400 cases studied over the past 5 years suggest that cause of death is identifiable in over three‐fourths of all cases; in 56% a fetal cause and in 21% a suspected placental or uterine cause is postulated. Cerain advances of this appraoch—a combined attempt to provide service and to advance the field—are suggested, provided that practical requirements for such a program are met and adquately funded from ancillary sources.

Url:
DOI: 10.1002/ajmg.1320280512


Affiliations:


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<div type="abstract" xml:lang="en">Western medicine is being sensitized to the enormous extent of prenatal death in humans at a time when such deaths, occurring after the first missed period, involve to an ever increasing degree wanted pregnancies conceived by women with rising mean maternal age, decreasing mean fertility, and ever greater desire and intention to assure a good pregnancy outcome. Available data suggest that about two‐thirds of human ova, embryos, and fetuses fail to reach birth or the end of the first year of life, with infant mortality of 1.06%, stillbirth rate of 8/1,000, abortion rate of about 15%, and death rate around the time of implantation estimated at 34%. Based on limited data on sperm, ova aspirated from Graafian follicles in infertile women, direct observation of a few implanting ova, the low rate of human fecundity, and the high failure rate of in vitro fertilization, it seems reasonable to suppose that about 30% of human ova perish at the time of fertilization and before implantation. Most of this prenatal death is attributable to chromosome abnormalities (aneuploidy and polyploidy), estimated to be present at the beginning of development in about half of all human ova or embryos. Parent's anguish about prenatal death and their desire to understand its causes and to prevent recurrence is putting the medical profession under severe pressure to provide diagnostic and counseling services and make available prenatal diagnosis and preventive approaches; this comes at a low point in the ability of Western medicine to respond adequately, especially in the fields of embryology and developmental genetics, clinical teratology, anatomical pathology, and genetic pathology. Unless drastica ameliorative measures are taken, the situation is likely to get much worse, since health insurance pays for only a minute fraction of costs involved and the number of pediatric pathologists devoting major effort to this work in North America has dwindled to a small number without great hope for replacement from younger ranks, primarily as a result of the lack of incentive by the tertiary centers to make fetal genetic pathology (“morphology”) an attractive field to work in. Here we report an effort by a secondary care center to provide such a service—presently more on demand than as systematic effort to reach all at need—in a huge, underpopulated state with birthrate of less than 13,000 and lacking any psecially trained pathologist with a strong interest int he field. The reson this is less quixotic than might appear at first is because the Montana Fetal Genetic Pathology Program is being conducted in collaboration with the Pediatric Pathology Program of the University of Wisconsin directed by Dr. Enid F. GIlbert, a world leader in the field, to guarantee the highest standards of performance and interpretation of findings. Preliminary data on the first 400 cases studied over the past 5 years suggest that cause of death is identifiable in over three‐fourths of all cases; in 56% a fetal cause and in 21% a suspected placental or uterine cause is postulated. Cerain advances of this appraoch—a combined attempt to provide service and to advance the field—are suggested, provided that practical requirements for such a program are met and adquately funded from ancillary sources.</div>
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