Maternal serum α-fetoprotein and fetal autosomal trisomies

Doran, T.A.; Cadesky, Ken; Wong, Pui-Yuen; Mastrogiacomo, C.; Capello, Thais da Silva

doi:10.1016/0002-9378(86)90655-1

Cited by 42 publications

(12 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Merkatz et al (1984) and was further supported by the fallowing studies: Tabor et al, 1984;Fuhrmann et al, 1984;Seller, 1984;Guibaud et al, 1984;Murday and Slack, 1985;and Doran et al, 1986, aIl of which found a significant relationship between low MSAFP concentrations and Down syndrome. Cuckle et a1's findinqs.…”

Section: Association Between Msafp Afafp and Trisomysupporting

confidence: 50%

“…Such findings were not reported for trisorny 13 (Doran et al, 1987), althouqh sample sizes were considerably lower in this group. AFAFP levels showed no association with any other trisomy exeept for trisomy 21 (Davis et al, 1985;Nelson and Peterson, 1985;Doran et al, 1986;and Lindenbaum et al, 1987) • 2.3. screening for Down Syndrome with MSAFP Once Cuckle et al (1984) were eonvineed of an association between Down syndrome preqnancies and significantly low MSAFP values, they proposed that this relationship could be used to form the basis of a screening test for mothers at risk of carrying a fetus with trisomy 21. Aecording to Macri (1986), a screening test must result in the identification of a subgroup in which the following criteria are met: (1) screened gravid women should be at a sufficient risk to warrant further offering of a diagnostic test (amniocentesis) and (2) fetuses with the specifie defeet (whether autosomal aneuploidy or neural tube defects) in the screened population should be found within the identified subgroup.…”

Section: Association Between Msafp Afafp and Trisomymentioning

confidence: 99%

“…Nonetheless, trisomy 21 is not the only autosomal trisomy associated with a low MSAFP value in the second trimester. Merkatz et al (1984), Doran et al (1986), and Lindenbaum et al, (1987), have aIl determined that like trisomy 21. trisomy 18 is also associated with low MSAFP values. Such findings were not reported for trisorny 13 (Doran et al, 1987), althouqh sample sizes were considerably lower in this group.…”

Section: Association Between Msafp Afafp and Trisomymentioning

confidence: 99%

See 2 more Smart Citations

Genetic control of the survival of murine trisomy 16 fetuses

Epstein

Vekemans

1990

Teratology

View full text Add to dashboard Cite

A mouse model that allows for the experimental induction of an aneuploid state has been employed to invest "Lgate the factors that control the survi" a~" of trisomy 16 fet.uses. The prevalence of trisomy 16 fetuses on day 15 of gestation was shown to vary significantly with the genetic background of the female parent.The ability to spontaneously abort a trisomy 16 conceptus was shawn to be higher in the mouse strain with a low prevalence of trisomy 16, compared to those mouse strains wi th a high prevalence of trisomy 16. Furthermore, the maternaI ability that selects against, or promotes the survival of a trisomie conceptus was shown to be specifie for the trisomy in question.

show abstract

Section: Association Between Msafp Afafp and Trisomysupporting

confidence: 50%

Section: Association Between Msafp Afafp and Trisomymentioning

confidence: 99%

Section: Association Between Msafp Afafp and Trisomymentioning

confidence: 99%

See 1 more Smart Citation

Genetic control of the survival of murine trisomy 16 fetuses

Epstein

Vekemans

1990

Teratology

View full text Add to dashboard Cite

show abstract

“…The karyotypic data used in these studies were not described in detail, and it is likely that some cases of "chromosomally normal" spontaneous abortions may have had chromosomally abnormal placentas (Qumsiyeh, 1998). Chromosome abnormalities lead to distinct hormonal and protein changes focused on the placenta (Hershey et al, 1985;Doran et al, 1986;Heyl et al, 1990;Zeitune et al, 1991;Barkai et al, 1993;Leporrier et al, 1996;Shulman and Phillips, 1997). How such changes occur is yet to be determined, but part of the answer may be related to cell proliferation and apoptosis.…”

confidence: 99%

Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi

Qumsiyeh

Kim

Ahmed

et al. 2000

Cytogenet Genome Res

View full text Add to dashboard Cite

Genetic defects of the zygote, such as chromosome aberrations, are the most frequent causes of abnormal embryonic development and spontaneous abortion. However, the underlying mechanisms remain unknown. Chromosome aberrations likely cause changes in placental morphology and function (such as size, shape, vascularity, and the presence of trophoblastic inclusion). We postulated that chromosome aberrations may affect rates of cell proliferation or programmed cell death (apoptosis) during the differentiation of chorionic villi. To address these questions, we evaluated cell proliferation using a monoclonal antibody to Ki-67 (a cell-cycle marker) and apoptosis using the in situ end-labeling method (TUNEL) on paraffin-embedded placental tissues. Tissues were obtained from spontaneous abortions in early gestational periods with normal (11 cases) and abnormal karyotypes (15 cases), as well as eight normal control placentas from elective abortions. Apoptotic cells were found in the stroma of all cases, but were significantly higher in number in the stroma of chromosomally abnormal versus chromosomally normal spontaneous abortions. The apoptotic index of the trophoblasts was not significantly different between groups. Cell proliferation was higher in muscularized blood vessels in chromosomally normal placentas (both elective and spontaneous abortions) versus chromosomally abnormal spontaneous abortions. Cell proliferation was different in the trophoblast and stroma between the groups but to a lesser degree than in blood vessels. The morphological and biological data presented here suggest that: (1) chromosomally abnormal spontaneous abortions may occur because of different mechanisms than chromosomally normal spontaneous abortions, (2) apoptosis of the stromal cells and cell proliferation in blood vessels and stroma play an important role in the differentiation and functioning of villi, and (3) these changes could explain the etiology of spontaneous abortion and growth retardation of chromosomally abnormal embryos.

show abstract

“…I 44-146 For approximately the last five years low values have also been evaluated to determine the risk of the mother carrying a fetus with Down syndrome. 147,148 It has been found by many investigators that by adding HCG to the calculations, the risk can be even better defined. With these values, even though they are elevated or low, the baby is usually found to be quite normal.…”

Section: Eugenics: Present and Futurementioning

confidence: 99%