Dataset Information

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

ABSTRACT:

Background

Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.

Results

Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review.

Conclusions

Our study showed that the pathogenicity of the ring chromosome abnormality [r(6)(p25q27)] was mainly affected by chromosome imbalance, deletions of genes with haploinsufficiency, duplications of genes with triple sensitivity, parental inheritance of the imbalance and the imprinting status of the affected genes.

SUBMITTER: Dong Y

PROVIDER: S-EPMC8897903 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

Dong Yanling Y Li Jian J Zeng Ziye Z Zhang Xue X Liang Mingxin M Yi Hong H Luo Jianyun J Li Junnan J

Molecular cytogenetics 20220305 1

<h4>Background</h4>Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.<h4>Results</h4>Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review.<h4>Conclusions</h4>Our study showed that the pa ...[more]

PMID: 35248136

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Project description:PurposeTo characterize temporal trends and outcomes of delivery hospitalization with maternal congenital heart disease (CHD).Materials and methodsFor this repeated cross-sectional analysis, deliveries to women aged 15-54 years with maternal CHD were identified in the 2000-2018 National Inpatient Sample. Temporal trends in maternal CHD were analyzed using joinpoint regression to estimate the average annual percentage change (AAPC) with 95% CIs. The relationship between maternal CHD and several adverse maternal outcomes was analyzed with log-linear regression models. Risk for adverse outcomes in the setting of maternal CHD was further characterized based on additional diagnoses of cardiac comorbidity including congestive heart failure, arrhythmia, valvular disease, pulmonary disorders, and history of thromboembolism.ResultsOf 73,109,790 delivery hospitalizations, 51,841 had a diagnosis of maternal CHD (7.1 per 10,000). Maternal CHD rose from 4.2 to 10.9 per 10,000 deliveries (AAPC 4.8%, 95% CI 4.2%, 5.4%). Maternal CHD deliveries with a cardiac comorbidity diagnosis also increased from 0.6 to 2.6 per 10,000 from 2000 to 2018 (AAPC 8.4%, 95% CI 6.3%, 10.6%). Maternal CHD was associated with severe maternal morbidity (adjusted risk ratios [aRR] 4.97, 95% CI 4.75, 5.20), cardiac severe maternal morbidity (aRR 7.65, 95% CI 7.14, 8.19), placental abruption (aRR 1.30, 95% 1.21, 1.38), preterm delivery (aRR 1.47, 95% CI 1.43, 1.51), and transfusion (aRR 2.28, 95% CI 2.14, 2.42). Risk for severe morbidity (AAPC 4.7%, 95% CI 2.5%, 6.9%) and cardiac severe morbidity (AAPC 4.7%, 95% CI 2.5%, 6.9%) increased significantly among women with maternal CHD over the study period. The presence of cardiac comorbidity diagnoses was associated with further increased risk.ConclusionMaternal CHD is becoming more common among US deliveries. Among deliveries with maternal CHD, risk for severe morbidity is increasing. These findings support that an increasing burden of risk from maternal CHD in the obstetric population.

Project description:ImportanceThe association of folate supplementation with congenital heart disease (CHD) prevention is controversial.ObjectiveTo examine the association of maternal serum folate levels at early to midpregnancy with CHD risk in offspring.Design, setting, and participantsThis case-control study recruited participants from one of China's largest cardiac referral centers between 2015 and 2018. CHD cases and non-CHD controls were matched according to maternal age at a ratio of 1:4. Data were analyzed from May to August 2023.ExposuresMaternal serum levels of folate, vitamin B12, and homocysteine were measured around the gestational age of 16 weeks.Main outcomes and measuresThe primary outcome was CHD, which was confirmed using echocardiography. The association between CHD risk in offspring with maternal folate levels was measured using adjusted odds ratios (aORs) with 95% CIs in conditional logistic regression analyses. Interactions between folate, vitamin B12, and homocysteine and CHD were estimated on a multiplicative scale.ResultsA total of 129 CHD cases with ventricular septal defect as the most common phenotype and 516 matched controls were included. The mean (SD) maternal age at pregnancy was 31.6 (5.3) years. There was a U-shaped association between maternal serum folate levels at early to midpregnancy and CHD risk in offspring. Compared with the offspring in the second and third quartiles of maternal folate, those in the lowest (aOR, 3.09; 95% CI, 1.88-5.08) and highest quartiles (OR, 1.81; 95% CI, 1.07-3.06) had increased odds of CHD. The ORs were higher when applying the World Health Organization criteria to determine the normal range for serum folate levels. Interaction analyses suggested that the adverse associations between low and high maternal folate and CHD risk might be further magnified by vitamin B12 deficiency or elevated homocysteine.Conclusions and relevanceIn this case-control study of CHD, low maternal serum folate levels in early to midpregnancy were associated with an increased CHD risk in offspring, and excessively high folate levels were also associated with an elevated CHD risk. Further investigation is needed to make causal inferences for the observed associations and elucidate the underlying mechanisms.

Dataset Information

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

Background

Results

Conclusions

Publications

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

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