Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism

Newborns with congenital heart defects tend to have a higher risk of growth restriction, which can be an independent risk factor for adverse outcomes. To date, a systematic review of the relation between congenital heart defects (CHD) and growth restriction at birth, most commonly estimated by its imperfect proxy small for gestational age (SGA), has not been conducted. Objective: To conduct a systematic review and meta-analysis to estimate the proportion of children born with CHD that are small for gestational age (SGA). Methods: The search was carried out from inception until 31 March 2019 on Pubmed and Embase databases. Studies were screened and selected by two independent reviewers who used a predetermined data extraction form to obtain data from studies. Bias was assessed using the Critical Appraisal Skills Programme (CASP) checklist. The database search identified 1783 potentially relevant publications, of which 38 studies were found to be relevant to the study question. A total of 18 studies contained sufficient data for a meta-analysis, which was done using a random effects model. Results: The pooled proportion of SGA in all CHD was 20% (95% CI 16%–24%) and 14% (95% CI 13%–16%) for isolated CHD. Proportion of SGA varied across different CHD ranging from 30% (95% CI 24%–37%) for Tetralogy of Fallot to 12% (95% CI 7%–18%) for isolated atrial septal defect. The majority of studies included in the meta-analysis were population-based studies published after 2010. Conclusion: The overall proportion of SGA in all CHD was 2-fold higher whereas for isolated CHD, 1.4-fold higher than the expected proportion in the general population. Although few studies have looked at SGA for different subtypes of CHD, the observed variability of SGA by subtypes suggests that growth restriction at birth in CHD may be due to different pathophysiological mechanisms.

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423: Fetal congenital heart disease and intrauterine growth restriction: a retrospective cohort study

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2010.10.442 ◽

2011 ◽

Vol 204 (1) ◽

pp. S171

Author(s):

Matthew Wallenstein ◽

Lorie Harper ◽

Anthony Odibo ◽

Kimberly Roehl ◽

George Macones ◽

...

Keyword(s):

Congenital Heart Disease ◽

Cohort Study ◽

Heart Disease ◽

Retrospective Cohort Study ◽

Intrauterine Growth Restriction ◽

Retrospective Cohort ◽

Congenital Heart ◽

Growth Restriction ◽

Intrauterine Growth

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Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

Cytogenetic and Genome Research ◽

10.1159/000445273 ◽

2016 ◽

Vol 148 (1) ◽

pp. 6-13

Author(s):

Kaihui Zhang ◽

Fengling Song ◽

Dongdong Zhang ◽

Yong Liu ◽

Haiyan Zhang ◽

...

Keyword(s):

Developmental Delay ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Ring Chromosome ◽

Deletion Syndrome ◽

Facial Features ◽

Whole Genome Microarray ◽

Available Information ◽

3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

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