Universal Screening for Extracardiac Abnormalities in Neonates with Congenital Heart Disease

Abstract

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% to 42%), AUS (32% to 69%), and GS (10% to 60%). There was considerable variability in the proportion within each group that underwent screening tests, and the consistency of screening often was not congruent with the likelihood of abnormal results. Approximately 50% of our patients had ≥1 EGA identified, resulting in a cost-yield ratio of $4,508/patient with EGA. Screening for EGA at our institution is not uniform and is often at odds with the prevalence of such patients. Given the high prevalence of EGA, we advocate for a universal screening program for neonates with CHD using cranial/abdominal ultrasonography and genetic testing.

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

“…Besides when we compared the CHD patients with controls without suspicion of a urinary tract abnormality, the result presented an even more pronounced significance. The lower frequency of abdominal abnormalities observed in our study among CHD patients, compared to Gonzalez et al 9 , could be due to the fact that our patients with CHDs were not restricted to newborns and also that all subjects underwent AUS, regardless of clinical suspicion. In the study of Muragasu et al 10 , the patients were submitted only to the ultrasound study of the urinary tract, and 11.9% clinically significant abnormalities were found.…”

“…The urinary tract malformations were also prevalent in the study of Bosi et al 22 , Stephensen et al 25 , Amorim et al 28 and Gonzalez et al 9 . Genitourinary tract abnormalities were found from 7.4 to 15.1% of patients with CHD in different series 18,20,24,26 and in 15.2% of live births and in 25.3% of stillbirths in the study of Amorim et al 28 .…”

“…They were carried out at times when cardiac and extracardiac evaluations using ultrasound were not yet routinely available [14][15][16][17] . In a literature review, only two publications in English language were found with similar goal to our study, that was to evaluate presence of abdominal malformations in patients with CHD through AUS 9,10 . In contrast, our study is unique in that all CHD patients underwent AUS, high resolution karyotype and FISH for detection of microdeletion 22q11.2, and all were examined by a clinical geneticist 7,[8][9][10][18][19][20][21][22][23][24][25][26][27][28][29][30] .…”

Usefulness of Routine Head Ultrasound Scans Before Surgery for Congenital Heart Disease

“…Another study reported a 42% incidence of abnormalities on HUS, with the majority having ventriculomegaly or enlargement of the subarachnoid space, LSV, or calcifications in the basal nuclei. 8 Gonzalez et al 9 reported that 21% of infants with CHD had significant or marginally significant abnormalities on HUS. One of the most frequently cited articles about findings on HUS in CHD indicates an incidence of brain injury of 59% diagnosed with HUS, with the majority again demonstrating LSV and/or cerebral atrophy.…”

“…Indeed, the overall detection rates of brain injury in infants with CHD range from 5% to 59% in the multiple studies performed. [7][8][9][10][11] Over the past decade, the use of MRI in infants with CHD has been increasing, although mostly in the research setting. A number of studies have reported the rate of preoperative brain injury on MRI in young infants undergoing surgery for CHD to be between 25% and 40%.…”