Prevalence of chromosomal disorders in cases with congenital heart defect: registry‐based study from Denmark between 2008 and 2018

Vedel, C.; Hjortshøj, Tina Duelund; Jørgensen, Dan Richter; Tabor, Ann; Rode, Line; Sundberg, Karin; Ekelund, Charlotte Kvist; Petersen, Olav Bjørn

doi:10.1002/uog.26075

Cited by 10 publications

(7 citation statements)

References 25 publications

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“…We chose iTGA for our investigation due to case homogeneity, and due to the reported excellent postsurgical prognosis among ductal-dependent CHDs. Moreover, this critical CHD has a notorious negative correlation with chromosomal abnormalities [ 60 ]; thus, we considered this specific condition the most worthwhile for searching.…”

Section: Discussionmentioning

confidence: 99%

Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis

Stancioi-Cismaru,

Dinu,

Carp-Veliscu

et al. 2024

Diagnostics

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This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008–December 2013 and January 2018–December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition to those resulting in live-born pregnancies, remained almost constant. The live-birth incidence decreased. The median gestational age at diagnosis decreased from 29.3 gestational weeks (mean 25.4) to 13.4 weeks (mean 17.2). The second trimester and the overall detection rate in the prenatal period did not significantly change, but the increase was statistically significant in the first trimester. The proportion of terminated pregnancies in fetuses diagnosed with the transposition of great arteries significantly increased (14.28% to 75%, p = 0.019).

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Section: Discussionmentioning

confidence: 99%

Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis

Stancioi-Cismaru,

Dinu,

Carp-Veliscu

et al. 2024

Diagnostics

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“…All Danish residents are assigned a unique personal identification number enabling linkage of data between national registers and other data sources [25]. In Denmark, health care is free and it is standard practice to offer genetic testing by chorionic villus sampling or amniocentesis when a CHD is diagnosed prenatally [26]. The prenatal detection rate and accuracy of major CHD is high and the majority of parents opt for further testing [27,28].…”

Section: Methodsmentioning

confidence: 99%

Maternal obesity, interpregnancy weight changes and congenital heart defects in the offspring: a nationwide cohort study

Hedermann,

Hedley,

Gadsbøll

et al. 2024

Int J Obes

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Objective To evaluate the association between maternal BMI and congenital heart defects (CHDs) in the offspring when including live births, stillbirths, aborted and terminated pregnancies and to investigate if maternal interpregnancy weight changes between the first and second pregnancy influences the risk of foetal CHDs. Methods A nationwide cohort study of all singleton pregnancies in Denmark from 2008 to 2018. Data were retrieved from the Danish Foetal Medicine Database, which included both pre- and postnatal diagnoses of CHDs. Children or foetuses with chromosomal aberrations were excluded. Odds ratios were calculated with logistic regression models for CHDs overall, severe CHDs and five of the most prevalent subtypes of CHDs. Results Of the 547 105 pregnancies included in the cohort, 5 442 had CHDs (1.0%). Risk of CHDs became gradually higher with higher maternal BMI; for BMI 25-29.9 kg/m2, adjusted odds ratio (aOR) 1.17 (95% CI 1.10-1.26), for BMI 30-34.9 kg/m2, aOR 1.21 (95% CI 1.09-1.33), for BMI 35-39.9 kg/m2, aOR 1.29 (95% CI 1.11-1.50) and for BMI ≥ 40 kg/m2, aOR 1.85 (95% CI 1.54-2.21). Data was adjusted for maternal age, smoking status and year of estimated due date. The same pattern was seen for the subgroup of severe CHDs. Among the atrioventricular septal defects (n = 231), an association with maternal BMI ≥ 30 kg/m2 was seen, OR 1.67 (95% CI 1.13-2.44). 109 654 women were identified with their first and second pregnancies in the cohort. Interpregnancy BMI change was associated with the risk of CHDs in the second pregnancy (BMI 2 to < 4 kg/m2: aOR 1.29, 95% CI 1.09-1.53; BMI ≥ 4 kg/m2: aOR 1.36, 95% CI 1.08-1.68). Conclusion The risk of foetal CHDs became gradually higher with higher maternal BMI and interpregnancy weight increases above 2 BMI units were also associated with a higher risk of CHDs.

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“…1,2,8 Upon a prenatal mCHD diagnosis, parents are provided with counseling and offered additional genetic testing. 9,10 Early detection of mCHD would provide parents time for reflection and genetic testing in the ages of next generation sequencing early in the pregnancy. This is not only advantageous in countries like Denmark, where termination is rarely granted beyond 22-23 weeks' gestation, but also because early diagnosis of severe abnormalities is preferred by pregnant women.…”

Section: Introductionmentioning

confidence: 99%

“…Many countries, including Denmark, conduct standardized screening for CHD during the second‐trimester anomaly scan, with notably high screening performance 1,2,8 . Upon a prenatal mCHD diagnosis, parents are provided with counseling and offered additional genetic testing 9,10 . Early detection of mCHD would provide parents time for reflection and genetic testing in the ages of next generation sequencing early in the pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Clinical implementation of first trimester screening for congenital heart defects

Helmbæk,

Sundberg,

Jørgensen

et al. 2024

Prenatal Diagnosis

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ObjectiveTo examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first‐trimester ultrasound scan.MethodA retrospective, single‐center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four‐chamber and 3‐vessel trachea view with color Doppler was implemented as part of the routine first‐trimester scan. Sonographers were asked to categorize the fetal heart anatomy. Data were stratified into two groups based on the possibility of evaluating the fetal heart. The influence of maternal and fetal characteristics and the detection of major congenital heart disease were investigated.ResultsA total of 5083 fetuses were included. The fetal heart evaluation was completed in 84.9%. The proportion of successful scans increased throughout the study period from 76% in the first month to 92% in the last month. High maternal body mass index and early gestational age at scan significantly decreased the feasibility. The first‐trimester detection of major congenital heart defects was 7/16, of which four cases were identified by the cardiac scan protocol with no false‐positive cases.ConclusionFirst‐trimester evaluation of the fetal heart by a standardized scan protocol is feasible to implement in daily practice. It can contribute to the earlier detection of congenital heart defects at a very low false positive rate.

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Prevalence of chromosomal disorders in cases with congenital heart defect: registry‐based study from Denmark between 2008 and 2018

Cited by 10 publications

References 25 publications

Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis

Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis

Maternal obesity, interpregnancy weight changes and congenital heart defects in the offspring: a nationwide cohort study

Clinical implementation of first trimester screening for congenital heart defects

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