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.

Project description:Background A provincial program combining the effect of a government investment in prenatal screening and a specialized cardiac center was introduced in 2004, to improve prenatal diagnosis by echocardiography for congenital heart diseases (CHDs) in the Guangdong Registry of Congenital Heart Disease, China. Objectives To evaluate the effects of this program on the prenatal diagnosis rate (PDR) by echocardiography and termination of pregnancy (TOP). Methods A retrospective study from 2004-2015 included 9782 fetuses and infants diagnosed with CHDs. The PDR was calculated for major and minor CHDs during pre-, mid- and post-program time-intervals. Multivariable logistic regression was utilized to analyze the associations between program implementation and the timing of CHD diagnosis (prenatal vs. postnatal) by different hospital levels. The rate for TOP were also evaluated. Results The PDR increased by 44% for major CHDs in the post-program interval relative to the pre-program interval. The three most frequently diagnosed subtypes prenatally were hypoplastic left heart syndrome (84%), double outlet right ventricle (83%) and severe pulmonary stenosis (82%). Participants with a high school education experienced a greater increase in PDR than those without a high school education. The odds for a prenatal vs. a postnatal diagnosis for major CHD were greater after introduction of the program than before (adjusted odd ratio= 20.95, 95% CI:2.47, 178.06 in secondary hospitals; and adjusted odd ratio=11.65, 95% CI:6.52, 20.81 in tertiary hospitals). The TOP rate decreased from 52.3% pre-program to 19.6% post-program among minor CHD fetuses with a prenatal diagnosis (P for trend =0.041). A lower proportion of TOP were attributed to minor CHDs after the program. Conclusions The program combining the advantages of government investment and a specialized cardiac center appeared to increase the PDR by echocardiography for CHDs in an unselected population. The TOP rate among minor cases with prenatal diagnosis declined significantly after implementation of the program.

Project description:BackgroundCongenital heart diseases (CHD) are the commonest congenital anomalies with increased risk in children born from families with affected members. However, various recurrence patterns of CHDs have been reported in different populations. Therefore, this work aimed to assess the recurrence patterns of CHDs in a large sample of Egyptian families.MethodsFrom January 2020 to October 2021, non-syndromic children with confirmed CHDs were recruited. Data were collected from guardians of the recruited children and hospital records, including the index case's cardiac diagnosis and CHD diagnosis of other affected family members with to determine their recurrence pattern, consanguinity, and multi-gestation status.ResultsA total of 130 recurrent cases with CHD were documented in 1960 families of children with CHD, including 66,989 members. Most recurrences were detected among first-degree relatives 50/130 (38.46%), especially siblings. Discordant recurrence was the most detected pattern (45.38%), followed by concordant recurrence (42.31%), and the least was group concordance. Recurrence rate was the highest for septal defects with left ventricular outflow tract obstruction (LVOTO) (11.8%) and anomalous venous drainage (11.1%), followed by septal defect with right ventricular outflow tract obstruction (RVOTO) (9.4%), isolated ventricular septal defect (VSD) category (8.2%) and LVOTO (8%). Familial recurrence was significant in consanguineous marriages [p = 0.0001; OR (95%CI) = 4.5 (2.25-9.01)] and in multi-gestations siblings: [p = 0.036; OR (95%CI) = 12.5(1.03-6.04)].ConclusionThe recurrence of non-syndromic CHD is evident among first-degree relatives in Egyptian families, with mostly a discordant recurrence pattern. Recurrence was more notable in septal defects with LVOTO, anomalous venous drainage, septal defect with RVOTO, isolated VSD, and isolated LVOTO diagnostic categories. This finding will significantly impact family counseling, emphasizing higher recurrence in consanguineous parents.

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.

Similar Datasets

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