The association between congenital heart disease and Down syndrome in prenatal life

Paladini, D.; Tartaglione, Antonio; Agangi, Annalisa; Teodoro, A.; Forleo, F.; Borghese, Annamaria; Martinelli, Pasquale

doi:10.1046/j.1469-0705.2000.00027.x

Cited by 97 publications

(82 citation statements)

References 17 publications

(23 reference statements)

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“…A study by Paladini and colleagues 43 suggested what is possible under ideal conditions. Scanning at an optimal gestational age (24 weeks), under optimal conditions (in a dedicated fetal echocardiographic center), with inclusion of subtle ventricular septal defects, and with previous knowledge of fetal karyotype, they were able to detect heart defects in just more than half of fetuses with Down syndrome.…”

Section: Trisomy 21mentioning

confidence: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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Objective. Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific-most frequently seen in normal fetuses, and are often transient. Our objective was to review the secondtrimester sonographic findings of the major trisomic conditions, trisomies 13, 18, and 21. Methods. We reviewed a number of the most commonly accepted markers, including nuchal thickening, hyperechoic bowel, echogenic intracardiac focus, renal pyelectasis, shortened extremities, mild cerebral ventricular dilatation, and choroid plexus cysts. Markers associated with trisomy 21 were emphasized. Results. The sensitivity of sonography for detection of fetal trisomic conditions varies with the type of chromosome abnormality, gestational age at the time of sonography, reasons for referral, criteria for positive sonographic findings, and the quality of the sonography. As an estimate, 1 or more sonographic findings can be identified in approximately 90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to 70% of fetuses with trisomy 21 (Down syndrome). Conclusions. The presence or absence of sonographic markers can substantially modify the risk of fetal Down syndrome and is the basis of the so-called genetic sonogram. Because maternal biochemical and sonographic markers are largely independent, combined risk estimates will result in even higher detection rates than either alone.

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Section: Trisomy 21mentioning

confidence: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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“…3,4,6 These studies were performed in the 1990s, before the introduction of the first trimester screening in the clinical practice.…”

Section: Commentmentioning

confidence: 99%

“…We found that although the rate of trisomy 21 is higher in the group of women with a high first trimester risk (>1:150) and an AVSD (70%, 95%CI: 52-83%), the absolute rate remains high in the group with a low first trimester risk (41%, 95% CI: 27-57%), a difference which does not vary significantly when the chosen threshold is 1:250 (66% versus 41%). In a previous study 3 conducted before the introduction of screening by NT and combined testing, the risk of trisomy 21 in fetuses with an AVSD was assessed by taking into account the age-related maternal risk and the relative risk was found to be 107. The authors concluded that with such a high relative risk, even in the presence of a very low first trimester risk (e.g.…”

Section: Commentmentioning

confidence: 99%

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The association between prenatal atrioventricular septal defects and chromosomal abnormalities

Morlando¹,

Bhide

Familiari

et al. 2017

European Journal of Obstetrics & Gynecology and Reproductiv

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Word count -Abstract: 283; Main text: 2552. CondensationThe rate of trisomy 21 among fetuses with an AVSD in the second trimester is high even in those that undergo first trimester combined screening. Short version of titleAVSD and trisomy 21. Results:A total 110 fetuses with a diagnosis of atrioventricular septal defect were identified. Among the 98 fetuses with normal situs, the prevalence of trisomy 21 was 46% (95%CI: 36-56%). Using a 1:150 threshold, the rate of trisomy 21 within the low-risk group was 41% (95%CI: 27-57%) while in the high-risk group it was 70% (95% CI: 52-83%), significantly higher than in the low risk group (p= 0.028). Similar results were obtained when the 1:250 threshold was applied (66% versus 41%, p= 0.055). Conclusions:The rate of trisomy 21 among fetuses identified with an atrioventricular septal defect in the second trimester is high even in those that undergo first trimester combined screening. Some fetuses with a high-risk screening result show a normal karyotype. Therefore, an offer of an invasive 4 procedure to check fetal karyotyping is indicated. Knowledge of these rates may be helpful for parents in the decision making process.

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“…5 The (birth) prevalence of CHDs in DS is about 40-60%, most frequently atrioventricular septal defects and ventricular septal defects. [6][7][8] Efforts have been made to determine the critical chromosomal region for specific phenotypic features of DS by deletion mapping and characterization of patients with partial trisomy 21. 4,9,10 One potential candidate gene for these trisomy 21-related CHDs is collagen type VI.…”

Section: Introductionmentioning

confidence: 99%

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

et al. 2011

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Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although the increased dosage of chromosome 21 sequences is likely to be part of the etiology of cardiac defects, only a proportion of DS patients exhibit a congenital heart defect (birth prevalence 40-60%). Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP ) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect. Structural modeling of the cytoplasmic domain of the ALK2 receptor suggests that H286 is in close proximity to the nucleotide-binding site of the kinase domain. We investigated whether this p.His286Asp substitution altered ALK2 function by using both in vitro as well as in vivo assays. The p.His286Asp variant demonstrated impaired functional activity as measured by BMP-specific transcriptional response assays. Furthermore, mild dominant-interfering activity was observed in vivo compared with wild-type ALK2 as determined by RNA injection into zebrafish embryos. These data indicate that in the context of a DS background, ALK2-mediated reduction of BMP signaling may contribute to CHDs.

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The association between congenital heart disease and Down syndrome in prenatal life

Cited by 97 publications

References 17 publications

Sonographic markers of fetal trisomies: second trimester.

Sonographic markers of fetal trisomies: second trimester.

The association between prenatal atrioventricular septal defects and chromosomal abnormalities

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

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