Cyanosis screening: Difference between revisions

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Revision as of 17:07, 6 November 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Prenatal echocardiography and genetic testing are useful methods for early detection of cyanotic congenital heart disease.

@@ Line 6: / Line 6: @@
 ==Screening==
 Prenatal [[echocardiography]] and genetic testing  are useful methods for early detection of [[cyanotic]] [[congenital heart disease]].
-== Genetic assessment ==
-* Fetal genetic assessment is indicated because [[chromosome abnormalities]] are common in fetuses with cardiac defects, even when isolated.
-* The risk of fetal [[aneuploidy]] varies depending on the malformation. [14]:
-* The [[22q11.2 deletion syndrome|22q11 deletion]] has been associated with several cardiac anomalies, including [[interrupted aortic arch]], [[truncus arteriosus]], [[ventricular septal defect]], and [[tetralogy of Fallot]]. [14].
-* The two main approaches for genetic testing are:
-* [[G-banding]] of fetal cells obtained via [[amniocentesis]], with [[Fluorescent in situ hybridization|fluorescent in situ hybridization (]]FISH) to assess for [[Microdeletion|microdeletions]], such as 22q11, not detectable by visual banding techniques.
-* Chromosomal [[microarray]], which detects submicroscopic chromosomal abnormalities in 5 percent of fetuses with ultrasound-detected anomalies and a normal [[G-banding|G-band karyotype]].
-* Disadvantages of [[Microarray|chromosomal microarray]] are that balanced rearrangements are not detectable and variants of unknown significance may be identified.
 ==References==