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Vol 82, No 2 (2011)
ARTICLES
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Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21 – theoretical and practical aspects

Agnieszka Stembalska, Izabela Łaczmańska, Lech Dudarewicz
Ginekol Pol 2011;82(2).

open access

Vol 82, No 2 (2011)
ARTICLES

Abstract

Abstract The incidence of numerical chromosome aberrations is about 5% during the entire pregnancy, and about 0.2% in live-born infants. Most commonly observed numerical aberrations in live births are trisomies of chromosomes 13, 18, 21, X and Y and monosomy of the X chromosome. It is estimated that approximately 70-80% of newborns with aneuploidies are born by women who did not present obvious risk factors, therefore, according to a recent recommendation by PTG, prenatal diagnosis increasing the detection of fetal aneuploidy should be offered to the entire population of women. Due to the risk of complications associated with invasive tests and a large number of unnecessarily performed tests of this type, it is postulated that invasive diagnostics should be used in very specific cases, and a non-invasive diagnostics should have a screening character. Non-invasive diagnostics include: 1) detailed ultrasonography performed in 11-13(+6 days) hbd and in 18-24 hbd; 2) biochemical tests: PAPP-A (first-trimester test) and the triple test (second-trimester test) and less frequently performed: double, quadruple, and integrated tests. High detection rate of chromosomal aberrations in non-invasive tests (at least 75%, with no more than 5% risk of obtaining false positive results) and lack of procedure-related pregnancy losses constitute the advantage of noninvasive prenatal diagnosis.

Abstract

Abstract The incidence of numerical chromosome aberrations is about 5% during the entire pregnancy, and about 0.2% in live-born infants. Most commonly observed numerical aberrations in live births are trisomies of chromosomes 13, 18, 21, X and Y and monosomy of the X chromosome. It is estimated that approximately 70-80% of newborns with aneuploidies are born by women who did not present obvious risk factors, therefore, according to a recent recommendation by PTG, prenatal diagnosis increasing the detection of fetal aneuploidy should be offered to the entire population of women. Due to the risk of complications associated with invasive tests and a large number of unnecessarily performed tests of this type, it is postulated that invasive diagnostics should be used in very specific cases, and a non-invasive diagnostics should have a screening character. Non-invasive diagnostics include: 1) detailed ultrasonography performed in 11-13(+6 days) hbd and in 18-24 hbd; 2) biochemical tests: PAPP-A (first-trimester test) and the triple test (second-trimester test) and less frequently performed: double, quadruple, and integrated tests. High detection rate of chromosomal aberrations in non-invasive tests (at least 75%, with no more than 5% risk of obtaining false positive results) and lack of procedure-related pregnancy losses constitute the advantage of noninvasive prenatal diagnosis.
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Keywords

aneuploidie, maternal serum screening, biochemical screening, prenatal diagnosis

About this article
Title

Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21 – theoretical and practical aspects

Journal

Ginekologia Polska

Issue

Vol 82, No 2 (2011)

Bibliographic record

Ginekol Pol 2011;82(2).

Keywords

aneuploidie
maternal serum screening
biochemical screening
prenatal diagnosis

Authors

Agnieszka Stembalska
Izabela Łaczmańska
Lech Dudarewicz

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