Prenatal screening for trisomy 18 with free beta human chorionic gonadotrophin as a marker.

Spencer, Kevin; Mallard, Angela S.; Coombes, E J; Macri, James N.

doi:10.1136/bmj.307.6917.1455

Cited by 44 publications

(29 citation statements)

References 23 publications

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“…18 The birth prevalence rate of Edwards' syndrome varies considerably, from 1:3000 to 1:11,000 live births. 2,3,7,[19][20][21][22][23][24] In the present study, the T18 average birth prevalence rate was 8.95 per 10,000 live births, which is significantly higher than the previous rate reported from Kuwait during 1984-1985 (1.1 per 10,000) and in 1986 (4.61 per 10,000). 25 Although clustering of births of children with Edwards' syndrome has been previously reported, no studies reported such a high rate.…”

Section: Discussioncontrasting

confidence: 55%

Clustering of Trisomy 18 in Kuwait: Genetic Predisposition or Environmental?

et al. 1999

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Background: This study describes 59 newborns with regular trisomy 18 (Edwards' syndrome, T18) who were ascertained clinically and cytogenetically at the Kuwait Medical Genetic Centre from 1994 to 1997, out of 118 T18 cases identified from 1980 to 1997. Materials and Methods: T18 cases were ascertained clinically and cytogenetically shortly after birth. In addition to assessing the T18 birth prevalence rate and confidence limits during the years 1994-1997, we investigated the possible etiological factors by a case-control study with normal healthy newborns. Studied factors included gender, parental age, birth order, abortion, clinical variables (presentation, amniotic fluid and mode of delivery), and survival. Results: The average T18 birth prevalence rate during the period was 8.95 per 10,000 live births (95% confidence limits 6.66-11.23). The T18 cases were mostly females, with a male:female ratio of 1:2.1, and the majority (53%) died before the second week of life. Maternal age above 30 years was found to be a significant factor for T18. Conclusion: This high T18 birth prevalence rate suggests clustering of T18 in the highly inbred population of Kuwait. Such clustering may indicate a possible environmental, and to a lesser extent, genetic predisposition to aneuploidy nondisjunction.

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Section: Discussioncontrasting

confidence: 55%

Clustering of Trisomy 18 in Kuwait: Genetic Predisposition or Environmental?

et al. 1999

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“…In contrast to the slightly reduced or normal levels found in cases of trisomy 18, a case of trisomy 18 associated with omphalocele had an elevated level (3.37) in our study. Although inhibin A levels are low in trisomy 18, the reduction is too slight, unlike those of other serum markers with markedly reduced levels [31], to be used as a useful marker in the detection of fetal trisomy 18.…”

Section: Discussionmentioning

confidence: 99%

Elevated Second-Trimester Maternal Serum Inhibin A Levels in Asian Pregnancies with Fetal Down Syndrome and Other Chromosomal Abnormalities

Hsu

Chiang²,

Hsieh³

et al. 2003

Fetal Diagn Ther

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Subjects: To evaluate second-trimester maternal serum inhibin A levels in Asian pregnancies with fetal Down syndrome and other chromosomal abnormalities. Methods: Inhibin A level was measured from the serum samples of 25 chromosomally abnormal pregnancies, including 15 cases of Down syndrome, 4 cases of trisomy 18, 1 case of trisomy 13, and 5 cases of sex chromosome aneuploidies (4 cases of 47,XXY and 1 case of 45,X) and in a cohort of 150 controls during the second trimester of pregnancy. Results: The multiple of median levels of Down syndrome (1.74) and other chromosomally abnormal pregnancies (2.03) are significantly higher than that of normal pregnancies (p = 0.002 and p = 0.024, respectively). Only 3 of 15 (20%) Down syndrome cases had inhibin A levels at or above the 95th centile of the control values. Conclusions: Inhibin A levels are raised in Asian women affected with fetal Down syndrome and sex chromosome abnormality. In spite of the poor discrepancy of inhibin A, it might be a potential marker for Down syndrome screening in Asians.

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“…Further work is required to determine whether a specific screen for trisomy 18 should be added to routine Down's screening programmes but it does appear likely that a specific screen may be beneficial. 4 …”

Section: Discussionmentioning

confidence: 99%

Atypicality Revisited: Further Data on the Effectiveness of the Mahalanobis Distance in Down's Syndrome Screening

Reynolds

1997

Ann Clin Biochem

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SUMMARY. Further data suggesting that assessment of atypicality may be a valuable addition to Down's syndrome screening is presented, based on results from 1521 unaffected pregnancies and 190 chromosomally abnormal pregnancies. For a I % increase in false positive rates (over the Down's screening-related false positives), it is estimated that the detection of non-trisomy 21 abnormalities may be enhanced by approximately 40%. These false positive and detection rates are similar to previous reports for specific trisomy 18 screens. Further work is necessary to prove whether a specific trisomy 18 screen, or an atypicality screen is preferable.

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Prenatal screening for trisomy 18 with free beta human chorionic gonadotrophin as a marker.

Cited by 44 publications

References 23 publications

Clustering of Trisomy 18 in Kuwait: Genetic Predisposition or Environmental?

Clustering of Trisomy 18 in Kuwait: Genetic Predisposition or Environmental?

Elevated Second-Trimester Maternal Serum Inhibin A Levels in Asian Pregnancies with Fetal Down Syndrome and Other Chromosomal Abnormalities

Atypicality Revisited: Further Data on the Effectiveness of the Mahalanobis Distance in Down's Syndrome Screening

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