Congenital Anomalies Are Associated with an Increased Risk of Death or Illness in Very Low Birthweight Infants

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ESPR272
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Abstract: :

Background:

Preterm infants are at high risk of death or severe illness. However, it is difficult to determine individual risk. Congenital anomalies are more prevalent in preterm infants, and are often caused by genetic disorders. 


Objective:

The objective was to test the hypothesis that anomalies, including minor malformations, are associated with increased rates of death or severe illness in very low birthweight (VLBW) infants.


Methods:

This was a retrospective study of VLBW infants admitted to a level IV NICU. Infants were excluded if they were out-born, born prior to 23 weeks gestation, or of triplets or greater multiplicity. Logistic regression was performed for the association of anomalies, and death or severe illness (severe necrotizing enterocolitis, bronchopulmonary dysplasia, acute kidney injury, intraventricular hemorrhage, retinopathy of prematurity, or shock or seizure requiring treatment, or culture-proven sepsis) prior to discharge, and controlled for sex, gestational age, and birth weight. The presence of an anomaly included any structural malformation.


Results: 

Our review found 147 VLBW infants meeting criteria. They had a mean gestational age of 29 ± 3 weeks, a mean birth weight of 1100 ± 290 g. Half (48%) were male. A congenital anomaly was detected in 32 (22%) infants. Anomalies affected the heart, kidneys, brain, and other organs, with 7 infants with multiple anomalies. Most infants with anomalies were not referred for clinical genetic testing. Ten (7%) of all infants died, and 26 (18%) experienced severe illness, including several who later died. The combined endpoint was reached in 15 of 32 (47%) of infants with anomalies, and in 17 of 115 (15%) of infants without anomalies. While controlling for sex, gestational age, and birth weight, the presence of an anomaly conferred a statistically significant (p < 0.001), seven-fold increased odds of death or severe illness (Fig. 1). Nearly half of the anomalies were of uncertain clinical significance (e.g., hypospadias, or pelviectasis), and most of the anomalies had no clear causal association with the illness (e.g., severe BPD in an infant with unilateral pelviectasis, or sepsis in an infant with a secundum ASD). 


Conclusions:

A strong association was found between the presence of congenital anomalies and death or severe illness in VLBW infants. In most cases, the illness has no apparent link to the malformation. These anomalies may represent the first phenotypically appreciable manifestation of underlying genetic disorders. Further research is needed to prospectively assess the prevalence of genetic disorders in this population, and the association of genetic disorders with illnesses.

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Columbia University Irving Medical Center
Columbia University Irving Medical Center
Columbia University Medical Center
Columbia University Medical Center

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