Contribution of Genetic Disorders to Neonatal Mortality in a Regional Intensive Care Setting

Hudome, Susan; Kirby, Russell S.; Senner, John W.; Cunniff, Christopher

doi:10.1055/s-2007-994565

Cited by 34 publications

(28 citation statements)

References 13 publications

(13 reference statements)

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“…For example, 57% of the lethal malformations in this study were multisystem anomalies, while similar analyses of causes of neonatal deaths from the USA found only 10 [4] and 29% [10] of lethal multiple malformations. Furthermore, 38 (68%) of 56 non-chromosomal multisystem malformations were due to recognized syndromes, while recognized syndromic malformations were very rarely seen in a similar study from neonatal intensive care in the USA [10] . The pattern of lethal malformation in this study is, however, similar to the general CA profi le previously reported for this community [11] .…”

Section: Discussionsupporting

confidence: 39%

“…Furthermore, most of the previous studies on genetic factors examined perinatal deaths [12][13][14][15] , and in the only previous study of neonatal deaths the rate of genetic evaluation was low [10] . In contrast, a clinical geneticist was involved in the evaluation of almost all the cases in the present investigation, which may have contributed to a more accurate assessment of genetic disorders.…”

Section: Discussionmentioning

confidence: 99%

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Genetic Contribution to High Neonatally Lethal Malformation Rate in the United Arab Emirates

Dawodu

Várady

Varghese

et al. 2005

Public Health Genomics

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Objectives: We examined the contribution of genetic disorders to congenital anomalies (CA) causing neonatal deaths in the Al Ain Medical District (AMD) in the United Arab Emirates (UAE) because of the high consanguineous marriage rate in the community. Methods: Charts of all neonatal deaths in the three perinatal units, which accounted for 99% of all births in AMD (1992–2000), were studied. Data regarding pregnancy, a family history including the level of parental consanguinity, the results of genetic evaluations and neonatal outcomes were recorded as part of an ongoing malformation surveillance system. Causes of death were based on clinical, laboratory and imaging findings. Results: Of the 508 neonates who died, 212 (42%) had CA, which were the leading cause of death. Forty-four percent of the CA were due to definite genetic disorders and 75% of these were single gene defects. Multisystem malformations were the commonest congenital malformations. Parental consanguinity was associated with a 2-fold increased risk of non-chromosomal multisystem malformations. Conclusions: Lethal malformations were the leading cause of neonatal deaths, and parental consanguinity was associated with an increased risk of autosomal recessive disorders. The results underscore the importance of genetic screening and counseling in strategies for further significant reductions in the neonatal mortality rate in the UAE.

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Section: Discussionsupporting

confidence: 39%

Section: Discussionmentioning

confidence: 99%

Genetic Contribution to High Neonatally Lethal Malformation Rate in the United Arab Emirates

Dawodu

Várady

Varghese

et al. 2005

Public Health Genomics

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“…Although others have reported that congenital anomalies increase the risk of mortality in the NICU, these observations have not been incorporated in all severity-of-illness scores. Hudome et al 29 reported that 23% of deaths in an outborn children's hospital NICU had a chromosomal abnormality, Mendelian disorder or congenital malformation. Escobar et al 30 reported congenital anomalies in 40% of NICU deaths.…”

Section: Discussionmentioning

confidence: 99%

Predictors of mortality and length of stay for neonates admitted to children's hospital neonatal intensive care units

et al. 2007

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Objective: Current scoring systems, which adjust prediction for severity of illness, do not account for higher observed mortality in neonatal intensive care units (NICUs) of children's hospitals than that of perinatal centers. We hypothesized that three potential predictors, (a) admission from another NICU, (b) presence of congenital anomalies and (c) need for surgery, would modify expected mortality and/or length of stay for infants admitted to NICUs in children's hospitals.Study Design: We reviewed consecutive admissions to two NICUs in children's hospitals in Canada. We performed regression analyses to evaluate these potential predictors and severity-of-illness indices for the outcomes of mortality and length of stay.Result: Of 625 neonatal admissions, transfer from another NICU, congenital anomalies requiring admission and surgery were identified in 371 (59%). Using logistic regression, mortality was predicted based on admission from another NICU (odds ratio (OR) 1.92; 95% confidence interval (CI) 1.04, 3.57), congenital anomalies (OR 7.28; 95% CI 3.69, 14.36) and a validated severity-of-illness score, the Score for Neonatal Acute Physiology Perinatal Extension Version II (SNAPPE-II; OR 1.07; 95% CI 1.05, 1.09 per point). By contrast, surgical intervention was predictive of survival (OR 0.35; 95% CI 0.18, 0.67). Length of stay X21 days was predicted by SNAPPE-II (OR 1.02; 95% CI 1.01, 1.03 per point), congenital anomalies (OR 2.47; 95% CI 1.60, 3.79) and surgery (OR 2.73; 95% CI 1.77, 4.21).Conclusion: Fair performance comparisons of NICUs with different casemixes, such as children's hospital and perinatal NICUs, in addition to severity-of-illness indices, should account for admissions from another NICU, congenital anomalies and surgery.

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“…Previous studies have looked at the contribution of genetic conditions to mortality in a neonatal intensive care unit [Ling et al, 1991;Hudome et al, 1994] and a pediatric intensive care unit [Fitzpatrick et al, 1991;Cunniff et al, 1995]. Other studies investigated the role of genetic disorders in pediatric mortality and hospitalizations in specific regions [Roberts et al, 1970;Yoon et al, 1997].…”

Section: Introductionmentioning

confidence: 99%

Contribution of malformations and genetic disorders to mortality in a children's hospital

Stevenson

Carey

2003

American J of Med Genetics Pt A

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Malformations and genetic disorders are the leading cause of infant mortality in the US. Many malformations have a genetic basis due to genic, chromosomal, or multifactorial causation. We have studied the proportion of pediatric cases in a university-affiliated children's hospital that died of malformations and genetic disorders. We reviewed, retrospectively, deaths over a 4 year period (1994-1998) at Primary Children's Medical Center (PCMC), a university-affiliated tertiary children's referral hospital in Utah. The age at death and the cause of death were recorded for each case. We analyzed 523 cases; 180 (34.4%) deaths were due to malformations and genetic disorders. Of those 180, 30 (16.7%) had chromosome anomalies, 21 (11.7%) had a recognizable malformation syndrome, 118 (65.6%) had a malformation of unknown cause, and 11 (6.1%) had some other genetic disorder. One hundred and twenty-two (23.3%) deaths were due to trauma (accidental and non-accidental). Seventy-nine (15.1%) deaths were due to short gestation or perinatal complications. Forty-five (8.6%) deaths were due to an infectious disease and 45 (8.6%) from neoplasms. Thirteen (2.5%) were diagnosed for sudden infant death "syndrome." Twelve (2.3%) patients with malformations and/or genetic disorders died of an acquired condition not clearly related to the underlying disorder. Seven (1.3%) patients died of an unknown cause and 20 (3.8%) patients died of other specified conditions. In addition, 51.0% patients (age <1 year) died of a malformation and/or genetic disorder. Genetic disorders and malformations are a substantial cause of mortality in a referral pediatric hospital. Knowledge of the impact of genetic diseases on mortality is important for the integration of preventive measures and health care strategies to care effectively for patients and their families. This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management.

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Contribution of Genetic Disorders to Neonatal Mortality in a Regional Intensive Care Setting

Cited by 34 publications

References 13 publications

Genetic Contribution to High Neonatally Lethal Malformation Rate in the United Arab Emirates

Genetic Contribution to High Neonatally Lethal Malformation Rate in the United Arab Emirates

Predictors of mortality and length of stay for neonates admitted to children's hospital neonatal intensive care units

Contribution of malformations and genetic disorders to mortality in a children's hospital

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