Cyanosis screening: Difference between revisions

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Revision as of 17:05, 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.

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 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 (FISH) to assess for 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-band karyotype.
Disadvantages of chromosomal microarray are that balanced rearrangements are not detectable and variants of unknown significance may be identified.

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 ==Overview==
 ==Screening==
-Guidelines for the performance of fetal echocardiograms recommend:
+Prenatal [[echocardiography]] and genetic testing  are useful methods for early detection of [[cyanotic]] [[congenital heart disease]].
-* [[Doppler|Color Doppler]] are used to identify small vessels such as the [[pulmonary veins]], [[ductus venosus]], and [[ductus arteriosus]], to assess valvular competence and flow patterns, and to examine the [[ventricular septum]] for defects.
-* Three-dimensional [[echocardiography]], tissue Doppler, fetal electrocardiography, and cardiovascular [[magnetic resonance imaging]]. [14].
-* When a fetal cardiac abnormality is detected, additional evaluation and follow-up are indicated.
-* Patients who have a normal basic fetal cardiac evaluation and echocardiography generally do not require further evaluation unless there is an elevated risk of evolution of fetal heart disease later in pregnancy.
-* Prenatal [[ultrasound]] and [[magnetic resonance imaging]] (MRI) found that [[brain]] abnormalities, delay in head growth, and brain-sparing were observed in subgroups of fetuses with [[congenital heart disease]]. 38
 == Genetic assessment ==