Chromosomal Abnormality Rates at Amniocentesis and in Live-Born Infants

Hook, Ernest B.; Cross, Philip K.; Schreinemachers, Dina M.

doi:10.1001/jama.1983.03330390038028

Cited by 292 publications

(134 citation statements)

References 10 publications

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“…The association of advanced maternal age with an increased risk of chromosome anoma lies is already well established [ 12,13], There fore, it is not surprising that in our study preg nancy loss with normal chromosomes was more common in younger patients. This may also explain the higher than expected rate of chromosome anomalies associated with IUFD in our patients, since the study group was ascertained by referral for CVS, the most common indication being advanced maternal age.…”

Section: Commentssupporting

confidence: 61%

Age of Gestation (Size) at Embryonic Demise: Taiíoring Counseling for Lethal versus Potentially Viable Aneuploidy

Drugan

Johnson²,

Evans³

1993

Fetal Diagn Ther

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The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at the time of demise correlated with viability, i.e., the more ‘viable’ the embryo for term survival. Even in the absence of chromosomal results, the size of the embryonic pole can be used to infer, to a degree, the type of abnormality.

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Section: Commentssupporting

confidence: 61%

Age of Gestation (Size) at Embryonic Demise: Taiíoring Counseling for Lethal versus Potentially Viable Aneuploidy

Drugan

Johnson²,

Evans³

1993

Fetal Diagn Ther

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“…The clinical observation that advancing maternal age corresponds to a lower risk of chromosomally normal foetal loss but a greater risk of chromosomally abnormal live births has stimulated several hypotheses regarding the nature of a maternal screening mechanism during pregnancy [4,9,16,19,20,40]. The search for such a mechanism, and its potential restoration especially among older gravid mothers, could hold considerable public health implications.…”

Section: Discussionmentioning

confidence: 99%

A test of maternal human chorionic gonadotropin during pregnancy as an adaptive filter of human gestations

et al. 2012

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The risk of abnormalities and morbidity among live births increases with advanced maternal age. Explanations for this elevated morbidity invoke several maternal mechanisms. The relaxed filter stringency (RFS) hypothesis asserts that mothers, nearing the end of their reproductive lifespan, reduce the stringency of a screen of offspring quality in utero based on life-history traits of parity and interbirth interval (IBI). A separate line of research implicates human chorionic gonadotropin (hCG) during pregnancy as a signal of offspring quality. We test the RFS hypothesis directly by examining whether the difference in gestational hCG across consecutive live births varies positively with the mother's number of previous live births but inversely with her most recent IBI. We applied multivariable regression methods to a unique dataset of gestational hCG for over 500 000 live births from 2002 to 2007. The difference in gestational hCG across mothers' consecutive live births varies positively with both mothers' parity and IBI. These associations remain similar among older mothers (35þ years). Findings support the RFS hypothesis for the parity expectation but not for the IBI expectation. Further evidence for the RFS hypothesis among contemporary human gestations would have to invoke screening mechanisms other than hCG.

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“…Risks were determined as weighted estimates of the probability data from the references cited; formal metaanalytic pooling techniques were not used. Sachs et al, 1988;Polani et al, 1979;Daniel et al, 1989;Hook et al, 1988;Hook, 1988;Desnick et al, 1992;Galjaard, 1976;Goldman et al, 1977;Daniel et al, 1 9 8 2 Daniel, 1989;Hook et al, 1983;Hook, 1981. Based on assumption of Mendelian genetics.…”

Section: Discussionmentioning

confidence: 99%

Use of decision analysis to evaluate patients' choices of diagnostic prenatal test

Verp

Heckerling

1995

Am. J. Med. Genet.

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Women with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their preferences. Patient preferences were assessed using visual linear rating scales. Threshold analysis was used to determine preference ranges, and stochastic sensitivity analysis to provide confidence levels, for each choice of test. The test choices of patients and decision analytic models agreed in one case, and disagreed in two cases. In one of the latter two cases, stochastic and threshold analyses showed the disagreement to be slight; for small shifts in preference differences for first- vs. second-trimester diagnosis, or first- vs. second-trimester therapeutic abortion, patient and decision model would have agreed. In the other, stochastic analysis showed their differences to be large; there were no thresholds for early diagnosis, or for early therapeutic abortion, that would have led to agreement between patient and model. In the two cases in which patient and decision model agreed or slightly disagreed, the patients had made their own choice of prenatal test. In the case in which patient and decision model strongly disagreed, the patient's physician had shared in the choice of test. Decision analysis can be useful in analyzing prenatal test choices based on individual preferences for pregnancy outcomes. When choices of patients and decision models do not agree, examination of the locus of decision making (patient vs. physician) may help resolve apparent differences.

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Chromosomal Abnormality Rates at Amniocentesis and in Live-Born Infants

Cited by 292 publications

References 10 publications

Age of Gestation (Size) at Embryonic Demise: Taiíoring Counseling for Lethal versus Potentially Viable Aneuploidy

Age of Gestation (Size) at Embryonic Demise: Taiíoring Counseling for Lethal versus Potentially Viable Aneuploidy

A test of maternal human chorionic gonadotropin during pregnancy as an adaptive filter of human gestations

Use of decision analysis to evaluate patients' choices of diagnostic prenatal test

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