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{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{Sara.Zand}}  
==Overview==
==Overview==
Prenatal [[echocardiography]] and genetic testing  are useful methods for early detection of [[cyanotic]] [[congenital heart disease]].Postnatal [[pulse oximetry]] is recommended for diagnosis of [[cyanotic]] [[congenital heart disease]]
==Screening==
==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.  
*Postnatal [[pulse oximetry]] is recommended for diagnosis of [[cyanotic]] [[congenital heart disease]].<ref name="LiuXu2019">{{cite journal|last1=Liu|first1=Xiwang|last2=Xu|first2=Weize|last3=Yu|first3=Jiangen|last4=Shu|first4=Qiang|title=Screening for congenital heart defects: diversified strategies in current China|journal=World Journal of Pediatric Surgery|volume=2|issue=1|year=2019|pages=e000051|issn=2516-5410|doi=10.1136/wjps-2019-000051}}</ref>
* 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 ==
* 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==
==References==
{{Reflist|2}}
{{Reflist|2}}
 
[[Category:Primary care]]
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[[Category: (name of the system)]]

Latest revision as of 04:09, 26 December 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Zand, M.D.[2]

Overview

Prenatal echocardiography and genetic testing are useful methods for early detection of cyanotic congenital heart disease.Postnatal pulse oximetry is recommended for diagnosis of cyanotic congenital heart disease

Screening

References

  1. Liu, Xiwang; Xu, Weize; Yu, Jiangen; Shu, Qiang (2019). "Screening for congenital heart defects: diversified strategies in current China". World Journal of Pediatric Surgery. 2 (1): e000051. doi:10.1136/wjps-2019-000051. ISSN 2516-5410.