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February 28-March 01, 2019 | Paris, France
Palliative Care, Obstetrics and Gynecology
Stroke and Clinical Trials
International Conference on
Joint Event on
International Conference on
&
Journal of Research and Reports in Gynecology and Obstetrics | Volume: 3
Screening for chromosomal defects
Veronika Frisova
Palacky University Olomouc, Czech Republic
T
here are several methods of screening for chromosomal
defects. The mothers worldwide do prefer the most
safe, early and accurate method of screening. Currently,
the most widespread and accepted one is the first trimester
screening combining maternal biochemistry with ultrasound
examination of fetal nuchal translucency and eventually
other ultrasound markers of Down’s syndrome and other
chromosomal defects. Moreover, cell-free-DNA testing
methods are used as the most accurate method of screening
for the most common chromosomal defects. These two
methods have advantage of early screening and eventually
diagnosis of chromosomal defects. Second trimester
biochemistry (triple or quadruple test) is much less accurate
method of screening. Integrated test combining maternal
biochemistry in the first and second trimester with fetal
nuchal translucency in the first trimester has a good accuracy,
however its disadvantage are late results with diagnosis
in the second trimester. Genetic ultrasound in the second
trimester may improve accuracy of screening for Down’s
syndrome, but mainly plays important role in diagnosis of
other, even less frequent chromosomal defects.
This presentation gives you an overview about the methods
of screening for chromosomal defects with comparison of
their accuracy, advantages and disadvantages.
e:
veronika.frisova@gmail.comRes Rep Gynaecol Obstet, Volume 3
DOI: 10.4066/2591-7366-C1-003