Dataset Information

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

ABSTRACT:

Objectives

To evaluate the recurrence of congenital heart disease (CHD) in pregnant women with familial risk who had been referred for fetal echocardiography.

Material and methods

1634 pregnancies from 1483 women with familial history of CHD in one or more relatives were studied. Fetal cardiologic diagnosis was compared with postnatal findings at 6 months or at autopsy.

Results

Total recurrence rate of CHD was 3.98%, 4.06% in single familial risk, 2.9% in double, and 5% in multiple risk. It was 3.5% in case of one previously affected child; 4.5% with 2 children; 5.2% with the mother alone affected and 7,5% with father alone affected and 3.5% with a single distant relative. Exact concordance of CHD was found in 21.5% and a partial concordance in 20% of cases.

Conclusions

Our data show a higher recurrence rate of CHD than previously published data and high relative risk ratios compared to normal population.

SUBMITTER: Fesslova V

PROVIDER: S-EPMC3184425 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Publications

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

Fesslova Vlasta V Brankovic Jelena J Lalatta Faustina F Villa Laura L Meli Valerio V Piazza Luciane L Ricci Cristian C

Journal of pregnancy 20111001

<h4>Objectives</h4>To evaluate the recurrence of congenital heart disease (CHD) in pregnant women with familial risk who had been referred for fetal echocardiography.<h4>Material and methods</h4>1634 pregnancies from 1483 women with familial history of CHD in one or more relatives were studied. Fetal cardiologic diagnosis was compared with postnatal findings at 6 months or at autopsy.<h4>Results</h4>Total recurrence rate of CHD was 3.98%, 4.06% in single familial risk, 2.9% in double, and 5% in ...[more]

PMID: 21977323

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Project description:Importance:Parents who receive a prenatal diagnosis of congenital heart disease may experience more short- and long-term stress than those who receive a postnatal diagnosis. To identify potential interventions to ameliorate that stress, the longitudinal emotional experience of parents must first be understood. Objective:To better understand parents' accounts of their own prenatal experience, particularly aspects they found to be stressful or challenging, and to identify strategies to improve support. Design, Setting, and Participants:This qualitative study included analysis of transcripts of audio recorded telephone interviews with pregnant mothers and their support persons, as applicable, who were referred to and seen at the Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May 2019 to August 2019 with an initial likely diagnosis of complex congenital heart disease at any gestational age. Data analysis was conducted from August 2019 to November 2019. Main Outcomes and Measures:An applied thematic analysis approach was used to code and analyze professionally transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was assessed and confirmed routinely. One author coded all transcripts; a second author independently reviewed one-fifth of the transcripts at fixed intervals to ensure that interrater reliability remained greater than 80%. Results:Twenty-seven individuals from 17 families participated in 42 phone interviews during pregnancy, 27 conducted at the first time point after the initial prenatal cardiology consultation and 15 at the second time point after a follow-up prenatal cardiology visit. Most interviewees were mothers (16 interviewees [59%]; median [interquartile range] age, 30.0 [27.3-34.8] years) or fathers (8 interviewees [30%)], with a few support individuals (3 interviewees [11%]) (median [interquartile range] age of family member or support individual, 30.0 [26.0-42.0] years). Initial fetal diagnoses included a range of severe congenital heart disease. Uncertainty was identified as a pervasive central theme and was related both to concrete questions on scheduling, logistics, or next steps, and long-term unknown variables concerning the definitiveness of the diagnosis or overall prognosis. Practitioners helped families through their framing of uncertainty at various time points including before, during, and after the clinic visit. Conclusions and Relevance:Families walk an uncertain path following a fetal diagnosis of severe congenital heart disease. The challenges faced by the cardiologists caring for them overlap in many ways with those experienced by pediatric palliative care practitioners. Potential future interventions to improve parental support were identified in the areas of expectation setting before the referral visit, communication in clinic, and identity formation after the new diagnosis.

Project description:As a rare disease with genetic pathogenesis, observational study about familial CHD recurrence risk on CHD patients with laterality defects is lacking. This study aimed to investigate familial recurrence among families of patients with CHD and laterality defects, and compare them with CHD patients without laterality defects. A total of 184 patients with CHD and laterality defects treated in Cardiovascular Center, Children's Hospital of Fudan University were observed from 2008 to 2019. A detailed family history was documented by trained staff using questionnaires, and information about the subtypes of CHD and laterality defects was also collected. In addition, positive family history information, including all three degrees relatives and all affected family members, was reconfirmed by trained medical staff through face-to-face interviews, telephone interviews, and letter return visits. Of the 184 included patients, 30 had at least one family member (from among three linear generations and distant relatives) with CHD. The familial recurrence rate of CHD in our cohort was 16.3% (30/184), which was higher than the 3.3% (67/2024) of patients with CHD without laterality defects. This result shows that the recurrence rate among the first-, second-, and third-degree relatives was 11.7% (11/94), 1.5% (3/204), and 3.1% (6/91) and that the recurrence rate among siblings (21.4%, 9/42) was higher than that among parents (3.8%, 2/52). The familial recurrence risk of CHD among patients with CHD and laterality defects is high, which is consistent with the previous study that reported a high familial recurrence of heterotaxy of 10%. First-degree relatives have a higher recurrence rate than second- and third-degree relatives, especially siblings. These findings have important significance for prenatal screening, intervention, and genetic counseling in the Chinese population, but may not be generalizable to other populations that may have different rates of familial and sporadic cases.

Dataset Information

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

Objectives

Material and methods

Results

Conclusions

Publications

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

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