Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

被引：4

作者：

D'Souza, Erica E. ^{[1
]}

Findley, Tina O. ^{[2
,3
]}

Hu, Rachel ^{[1
]}

Khazal, Zahra S. H. ^{[1
]}

Signorello, Rachel ^{[1
]}

Dash, Camille ^{[1
]}

D'Gama, Alissa M. ^{[1
,4
]}

Feldman, Henry A. ^{[1
,4
]}

Agrawal, Pankaj B. ^{[1
,4
,5
,6
,7
,8
]}

Wojcik, Monica H. ^{[1
,4
,5
,6
]}

Morton, Sarah U. ^{[1
,4
,5
,9
]}

机构：

[1] Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA

[2] Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Neonatal Perinatal Med, Houston, TX 77030 USA

[3] Childrens Mem Hermann Hosp, Houston, TX 77030 USA

[4] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[5] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

[6] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

[7] Univ Miami, Miller Sch Med, Dept Pediat, Div Neonatol, Miami, FL USA

[8] Holtz Childrens Hosp, Jackson Hlth Syst, Miami, FL USA

[9] Boston Childrens Hosp, Fetal Neonatal Neuroimaging & Dev Sci Ctr, Boston, MA 02115 USA

来源：

JOURNAL OF PERINATOLOGY | 2024年 / 44卷 / 08期

关键词：

CHROMOSOMAL MICROARRAY; CLINICAL-OUTCOMES; NEWBORNS;

D O I：

10.1038/s41372-024-01935-1

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

OBJECTIVE: To evaluate patterns of genetic testing among infants with CHD at a tertiary care center. STUDY DESIGN: We conducted a retrospective observational cohort study of infants in the NICU with suspicion of a genetic disorder. 1075 of 7112 infants admitted to BCH had genetic evaluation including 329 with CHD and 746 without CHD. 284 of 525 infants with CHD admitted to CMHH had genetic evaluation. Patterns of testing and diagnoses were compared. RESULTS: The rate of diagnosis after testing was similar for infants with or without CHD (38% [121/318] vs. 36% [246/676], p = 0.14). In a multiple logistic regression, atrioventricular septal defects were most high associated with genetic diagnosis (odds ratio 29.99, 95% confidence interval 2.69-334.12, p < 0.001). CONCLUSIONS: Infants with suspicion of a genetic disorder with CHD had similar rates of molecular diagnosis as those without CHD. These results support a role for genetic testing among NICU infants with CHD.

引用

页码：1196 / 1202

页数：7

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