Risk of Stillbirth for Fetuses With Specific Birth Defects

Heinke, Dominique; Nestoridi, Eirini; Hernández–Dı́az, Sonia; Williams, Paige L.; Rich‐Edwards, Janet W.; Lin, Angela E.; Bennekom, Carla M. Van; Mitchell, Allen A.; Nembhard, Wendy N.; Fretts, Ruth C.; Roberts, Drucilla J.; Duke, C. Wes; Carmichael, Suzan L.; Yazdy, Mahsa M.

doi:10.1097/aog.0000000000003614

Cited by 31 publications

(41 citation statements)

References 38 publications

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“…The point of ascertainment, as well as the method and even the definition of what constitutes a congenital anomaly may substantially influence these calculations (Kirby 2017). For example structural abnormalities are thought to affect 3% of pregnancies (CDC 2008), 20% of all pregnancy losses (Heinke et al 2020), 8.5% of stillbirths (fetal deaths after 20 weeks) and 2.4% of live-born infants Holmes 1989, Mai et al 2019).…”

Section: Surveillance For Congenital Anomaliesmentioning

confidence: 99%

“…The rich data produced by this study and other state-led birth defects surveillance programs (CDC 2008) continue to inform birth defects research and have led to hundreds of publications in addition to discoveries of modifiable risk factors and public health interventions, such as the use of folic acid to prevent neural tube defects (Lin et al 2009, Williams et al 2015. However, these studies may be biased towards non-lethal phenotypes, which is important in interpreting their results (Heinke et al 2020).…”

Section: Surveillance For Congenital Anomaliesmentioning

confidence: 99%

“…As many structural anomalies lead to pregnancy loss or occur in pregnancies that are not continued (Heinke et al 2020), the genetic landscape of birth defects in live-born infants may differ from that of infants who do not survive the pregnancy. The population described by Drs.…”

Section: Genetic Causes Of Birth Defectsmentioning

confidence: 99%

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Deciphering congenital anomalies for the next generation

Wojcik

Agrawal

2020

Cold Spring Harb Mol Case Stud

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Congenital anomalies are common, with 2-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies-particularly if modifiable causes may be identified or pre-or postnatal treatments can be offered. Recent research has begun to reveal the spectrum of monogenic disorders that commonly result in birth defects, and newer approaches have revealed non-Mendelian genetic contributions including gene-environment interactions. Our experience suggests that increased efforts to sequence and analyze cases of perinatal death, as well as continued global collaboration, will be essential in understanding the genomic landscape of structural anomalies.

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Section: Surveillance For Congenital Anomaliesmentioning

confidence: 99%

Section: Surveillance For Congenital Anomaliesmentioning

confidence: 99%

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Deciphering congenital anomalies for the next generation

Wojcik

Agrawal

2020

Cold Spring Harb Mol Case Stud

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“…Genetic screening considers known risks and statistics, so if birth defects surveillance is not inclusive, the data and resulting education might be skewed. Improved knowledge of the likelihood of stillbirth for a fetus with a prenatally‐diagnosed defect may be useful for healthcare providers by allowing them to utilize and accurately interpret detailed prenatal monitoring, with risks based on true birth defects rates, and provide well‐prepared deliveries and preventative measures in high‐risk cases (Heinke et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

“…Overall, the rate of stillbirth in the general population of the United States is estimated to be approximately 6 per 1,000 births (MacDorman & Gregory, 2015). A study done by Heinke et al (2020) illustrates the impact of stillbirths on the number of recorded birth defects by analyzing the rate of stillbirth within certain birth defects. For each specific birth defect, they calculated the number stillbirths divided by the number of live births plus the number of stillbirths.…”

Section: Introductionmentioning

confidence: 99%

Assessing the value of reviewing all fetal death records for birth defects surveillance, compared to only those with maternal anomaly codes

Tessarolo

Ramirez

Contreras

2020

Birth Defects Research

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BackgroundThe Arizona Birth Defects Monitoring Program (ABDMP) creates case‐finding lists of potential birth defects. As part of this, ABDMP includes all fetal death records, in addition to records for mothers and infants with an associated birth defect code. This project aims to understand the value of including all fetal deaths in case‐finding, and to assess the impact on the rate of birth defects if all fetal death cases are not reviewed.MethodsWe assessed 2016–2017 fetal death records based on case‐finding source and ICD‐10 CM codes. We categorized cases by whether they had a hospital discharge ICD‐10 CM code indicating a maternal diagnosis for a fetal anomaly (i.e., “O35” code), and compared them to cases reported only by a stillbirth code, meaning that a baby was born deceased, with no reference to birth defects. Positive and negative predictive values were calculated (PPV, NPV, respectively).ResultsFor 2016–2017, fetal deaths make up 6% (n = 89) of all confirmed birth defects (n = 1,416), and fetal deaths with no O35 code make up 4% (n = 54) of all confirmed birth defects cases in Arizona. Had cases without an O35 code not been included, 4% (n = 54) of confirmed birth defect cases in Arizona for 2016–2017 would have been missed. The PPV was 68.6%.ConclusionThe work involved in reviewing the additional 1,000 records per year is warranted by the value noted. It is evident that by including all fetal deaths we capture a more accurate picture of the occurrence of birth defects in Arizona.

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Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

Martin-Giacalone

Lin

Rasmussen

et al. 2023

American J of Med Genetics Pt A

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The lack of United States population‐based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000–2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype‐confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0–3.3, program range: 1.0–10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8–2.1, program range: 0.2–3.9). Prevalence was lowest among cases born to non‐Hispanic Black women compared to non‐Hispanic White women (PR = 0.5, 95% CI = 0.4–0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five‐year survival probability of 94.6%. The findings from this population‐based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.

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Risk of Stillbirth for Fetuses With Specific Birth Defects

Cited by 31 publications

References 38 publications

Deciphering congenital anomalies for the next generation

Deciphering congenital anomalies for the next generation

Assessing the value of reviewing all fetal death records for birth defects surveillance, compared to only those with maternal anomaly codes

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

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