Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers

Borelli, Melissa; Baer, Rebecca J.; Chambers, Christina D.; Smith, Tyler C.; Jelliffe‐Pawlowski, Laura L.

doi:10.1002/ajmg.a.38013

Cited by 17 publications

(15 citation statements)

References 33 publications

(43 reference statements)

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“…Both these issues will understate the number of cases and consequently the risk. To some extent this can now be overcome by the use of fetal echocardiography and biomarkers, such as pregnancy-associated plasma protein-A and free beta human chorionic gonadotropin, tested during the first or second trimester [ 89 , 90 , 91 ].…”

Section: Discussionmentioning

confidence: 99%

Environmental Contaminants and Congenital Heart Defects: A Re-Evaluation of the Evidence

Nicoll

2018

IJERPH

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Congenital heart defects (CHDs) are a common birth defect of largely unknown etiology, with high fetal and neonatal mortality. A review of CHDs and environmental contaminant exposure found that meta-analyses showed only modest associations for smoking, vehicle exhaust components, disinfectant by-products and proximity to incinerators, with stronger results from the newer, larger and better quality studies masked by the typical absence of effect in older studies. Recent studies of exposure to agricultural pesticides, solvents, metals and landfill sites also showed associations. Certain contaminants have been associated with certain CHDs, with septal defects being the most common. Frequent methodological problems include failure to account for potential confounders or maternal/paternal preconception exposure, differences in diagnosing, defining and classifying CHDs, grouping of defects to increase power, grouping of contaminants with dissimilar mechanisms, exclusion of pregnancies that result in death or later life diagnosis, and the assumption that maternal residence at birth is the same as at conception. Furthermore, most studies use measurement estimates of one exposure, ignoring the many additional contaminant exposures in daily life. All these problems can distort and underestimate the true associations. Impaired methylation is a common mechanism, suggesting that supplementary folate may be protective for any birth defect.

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Section: Discussionmentioning

confidence: 99%

Environmental Contaminants and Congenital Heart Defects: A Re-Evaluation of the Evidence

Nicoll

2018

IJERPH

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“…Congenital heart defects (CHD) are the most common congenital anomalies, with an estimated incidence of 8 per 1,000 live births in the United States (1). Severe cases of CHD often require major cardiac surgeries, which may result in death (2).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Hence, early diagnosis and in-time intervention are necessary to reduce both mortality and morbidity of the disease (1,2). Furthermore, early diagnosis has a major contribution to reducing healthcare expenditures (1)(2)(3)(4)(5)(6)(7). The first fetal echocardiography was performed in Denmark in 1995 to identify CHD at 18 to 21 weeks of gestation.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Aghaamoo

Lotfi

Mirmohammadkhani

et al. 2021

Middle East J Rehabil Health Stud

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Background: Congenital heart diseases, as the most common congenital anomaly, are a major cause of serious morbidity and mortality. Objectives: This study aimed to evaluate the level of alpha-fetoprotein in the second trimester of pregnancy and its association with congenital heart defects. Methods: Following a cross-sectional design, singleton pregnant women in the second-trimester were enrolled for the α-fetoprotein (AFP) screening test. Those with normal screening results at the first and second tests were assigned to the control group. Mothers with nuchal translucency (NT) screening equal or greater than 3% of the 99th percentile, without chromosomal anomalies, confirmed with amniocentesis, were referred for a fetal echocardiogram and in presence of congenital heart defects symptoms, assigned to the intervention group. The study groups were compared concerning the serum AFP level and maternal and neonatal outcomes in the second trimester of pregnancy. Statistical significance was considered when P-value < 0.05. Results: A total of 270 women were enrolled in the study, with a mean AFP level of 1.868 ± 0.87 and 1.374 ± 0.39 in the case and control groups, respectively. The mean level of AFP was significantly different between the two groups (P < 0.001). In the second trimester, an AFP level lower than 1 was associated with a significant increase in the likelihood of developing congenital heart anomalies in the fetus. Conclusions: This study demonstrated that the value of maternal AFP level in the second trimester can be considered as an appropriate screening test to predict the incidence of congenital heart defects in neonates.

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“…However, a significant role to play also features the formation and various hemodynamic CHD. Despite the fact that the anatomical details of the fetal heart can be seen from 12-14 weeks, various manifestations can vary significantly CHD that determines the timing of diagnosis [16,17].…”

Section: Introductionmentioning

confidence: 99%

Medical Genetic Counseling of Women With Congenital Heart Diseases of Fetus

Sharhorodska

Helner

Prokopchuk

et al. 2019

EUREKA: Health Sciences

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Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.

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Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers

Cited by 17 publications

References 33 publications

Environmental Contaminants and Congenital Heart Defects: A Re-Evaluation of the Evidence

Environmental Contaminants and Congenital Heart Defects: A Re-Evaluation of the Evidence

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Medical Genetic Counseling of Women With Congenital Heart Diseases of Fetus

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