当前位置： SCI文献检索 > PRENATAL DIAGNOSIS期刊下所有文献 > Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-or very-low-risk pregnancies.

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-or very-low-risk pregnancies.

Abstract：

:An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two-thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the 'a priori risk' and the 'predictive value of a cytogenetic finding'. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short-term culture (STC), combined STC and long-term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non-mosaic and 'non-lethal' trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow-up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false-negative diagnosis, but probably had one false-positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false-positive findings in the very-low-risk group (maternal age < or = 35 years of age) and of false-negative findings in the very-high-risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or--especially in the latter group--PUBS might be primarily offered to these indication groups instead of CVS.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

Kennerknecht I,Barbi G,Wolf M,Djalali M,Grab D,Terinde R,Vogel W

doi

10.1002/pd.1970131007

subject

Has Abstract

pub_date

1993-10-01 00:00:00

pages

929-44

issue

eissn

0197-3851

issn

1097-0223

journal_volume

pub_type

杂志文章

在线工具

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-or very-low-risk pregnancies.