Use of prenatal diagnostic procedures in pregnancies affected with birth defects, Hawaii, 1986–2002

Forrester, Mathias B.; Merz, Ruth D.

doi:10.1002/bdra.20257

Cited by 5 publications

(5 citation statements)

References 10 publications

(13 reference statements)

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“…In addition, the diagnosis of birth defects may have changed over time. For example, a previous study of Hawaii birth defects registry cases found that the use of prenatal diagnostic procedures and the prenatal diagnosis of birth defects increased in Hawaii during 1986–2002 (Forrester & Merz 2006). Finally, not all families with offspring affected by known or suspected birth defects in Hawaii undergo genetic counseling (Forrester & Merz 2007).…”

Section: Discussionmentioning

confidence: 99%

Precurrence risk of birth defects in Hawaii

Forrester¹,

Merz²

2008

Congenital Anomalies

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The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any major birth defect, birth defects of the same organ system, and same specific birth defect were calculated for nine major organ systems and 54 specific birth defects. The precurrence risk of any major birth defect (3.5%) was substantially less than the risk of any major birth defect among the entire population (4.7%). The precurrence risk of a birth defect of the same organ system was significantly higher than the reference rate for six (67%) of the major organ systems and eight (15%) of the specific birth defects. The precurrence risk of the same birth defect was substantially elevated for 15 (28%) of the specific birth defects. Precurrence risk of any major birth defect was not elevated, but tended to be lower than expected. However, for several categories, precurrence risk of birth defects of the same organ system or the same specific birth defect was substantially elevated.

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Section: Discussionmentioning

confidence: 99%

Precurrence risk of birth defects in Hawaii

Forrester¹,

Merz²

2008

Congenital Anomalies

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“…In the United States, an anatomic ultrasound is not performed in all women. 48 The availability of anatomic ultrasound is likely to be particularly limited in certain racial/ethnic or low-socioeconomic-status groups. 49 Therefore, although prenatal ultrasound plays an important part in the timely identification of CCHD, population-based data demonstrate that this methodology by itself is insufficient to identify a high proportion of cases.…”

Section: Customary Practicementioning

confidence: 99%

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease

Mahle¹,

Newburger²,

Matherne³

et al. 2009

Circulation

245

134

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Background-The purpose of this statement is to address the state of evidence on the routine use of pulse oximetry in newborns to detect critical congenital heart disease (CCHD). Methods and Results-A writing group appointed by the American Heart Association and the American Academy of Pediatrics reviewed the available literature addressing current detection methods for CCHD, burden of missed and/or delayed diagnosis of CCHD, rationale of oximetry screening, and clinical studies of oximetry in otherwise asymptomatic newborns. MEDLINE database searches from 1966 to 2008 were done for English-language papers using the following search terms: congenital heart disease, pulse oximetry, physical examination, murmur, echocardiography, fetal echocardiography, and newborn screening. The reference lists of identified papers were also searched. Published abstracts from major pediatric scientific meetings in 2006 to 2008 were also reviewed. The American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. In an analysis of pooled studies of oximetry assessment performed after 24 hours of life, the estimated sensitivity for detecting CCHD was 69.6%, and the positive predictive value was 47.0%; however, sensitivity varied dramatically among studies from 0% to 100%. False-positive screens that required further evaluation occurred in only 0.035% of infants screened after 24 hours. Conclusions-Currently, CCHD is not detected in some newborns until after their hospital discharge, which results in significant morbidity and occasional mortality. Furthermore, routine pulse oximetry performed on asymptomatic

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“…In the United States, an anatomic ultrasound is not performed in all women. 48 The availability of anatomic ultrasound is likely to be particularly limited in certain racial/ethnic or lowsocioeconomic-status groups. 49 Therefore, although prenatal ultrasound plays an important part in the timely identification of CCHD, population-based data demonstrate that this methodology by itself is insufficient to identify a high proportion of cases.…”

Section: Customary Practicementioning

confidence: 99%

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease: A Scientific Statement from the AHA and AAP

Mahle¹,

Newburger²,

Matherne³

et al. 2009

Pediatrics

318

237

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BACKGROUND: The purpose of this statement is to address the state of evidence on the routine use of pulse oximetry in newborns to detect critical congenital heart disease (CCHD). METHODS AND RESULTS: A writing group appointed by the American Heart Association and the American Academy of Pediatrics reviewed the available literature addressing current detection methods for CCHD, burden of missed and/or delayed diagnosis of CCHD, rationale of oximetry screening, and clinical studies of oximetry in otherwise asymptomatic newborns. MEDLINE database searches from 1966 to 2008 were done for English-language papers using the following search terms: congenital heart disease, pulse oximetry, physical examination, murmur, echocardiography, fetal echocardiography, and newborn screening. The reference lists of identified papers were also searched. Published abstracts from major pediatric scientific meetings in 2006 to 2008 were also reviewed. The American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. In an analysis of pooled studies of oximetry assessment performed after 24 hours of life, the estimated sensitivity for detecting CCHD was 69.6%, and the positive predictive value was 47.0%; however, sensitivity varied dramatically among studies from 0% to 100%. False-positive screens that required further evaluation occurred in only 0.035% of infants screened after 24 hours. CONCLUSIONS: Currently, CCHD is not detected in some newborns until after their hospital discharge, which results in significant morbidity and occasional mortality. Furthermore, routine pulse oximetry performed on asymptomatic newborns after 24 hours of life, but before hospital discharge, may detect CCHD. Routine pulse oximetry performed after 24 hours in hospitals that have on-site pediatric cardiovascular services incurs very low cost and risk of harm. Future studies in larger populations and across a broad range of newborn delivery systems are needed to determine whether this practice should become standard of care in the routine assessment of the neonate.

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Use of prenatal diagnostic procedures in pregnancies affected with birth defects, Hawaii, 1986–2002

Abstract: Only a fraction of the Hawaii birth defects cases was prenatally diagnosed. The rates for prenatal US, AC/CVS, and prenatal diagnosis among pregnancies affected by birth defects were higher in 1998-2002 than in 1986-1991. AC/CVS rates were lower for maternal age <35 years.

Cited by 5 publications

References 10 publications

Precurrence risk of birth defects in Hawaii

Precurrence risk of birth defects in Hawaii

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease: A Scientific Statement from the AHA and AAP

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