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PubMed1997

Perinatal hospice: a response to partial birth abortion for infants with congenital defects.

This article discusses decisions involving whether to terminate late-term pregnancies when fetal anomalies have been detected. Partial-birth abortion performed on fetuses with chromosomal abnormalities, while performed under the guise of reducing suffering, threatens the best interests of the mother and infant. An alternative for parents faced with the decision to terminate their pregnancy is perinatal hospice. Perinatal hospice recognizes the value of bringing these infants to term by treating them as beings conceived with a tangible future. This alternative is preferred because of post-termination psychological distress and because biblical teachings emphasize the dignity and worth of each fetus. Perinatal hospice supports parents through their grief when their infant dies and maximizes the opportunity for authentic mourning.

Abortion, Eugenic↗
PubMed1996

[Evaluation on the informed consent, effectiveness in improving the knowledge of congenital defects and use of vitamin among women in Mancheng County, Herbei province].

The effectiveness of informed consent in the widespread community education was evaluated in a randomized controlled trial, using periconceptional vitamin supplement to prevent spina bifida and anencephaly in Mancheng County, Hebei Province. Results showed that 60% and 70% of women in the pre-education group knew the terms of "vitamin" and "birth defects", but the proportions of women who had ever heard of the terms of "spina bifida", "anencephaly", and "neural tube defects" were rather low. No woman had any knewledge of "folic acid". In the post-education group, there was not much change in the proportions of women who knew the terms of "vitamin" and "birth defects". Women with less knowledge at the pre-education group increased their knowledge more obviously: 12% of the women who knew folic acid and the maximum levels of other three items were about 2-13 times of the pre-education group which reached about 40% -50%. Women showed strong ability of receiving new knowledge and the education campaign seemed effective in the widespread community to a large extent.

Adolescent↗
PubMed1998

[Congenital defects of the spinal cord and canal in neuroimaging].

Authors present the clinical classification of spinal dysraphisms and discuss all imaging modalities useful in the diagnosis: conventional X-rays, myelography, computed tomography, myelo-CT and magnetic resonance imaging. They precise the place of ultrasound in the prenatal and postnatal imaging of spinal dysraphisms.

Female↗
PubMed1993

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velocardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients with conotruncal defects who were not diagnosed with DGS or VCFS would also have 22q11 deletions. Seventeen non-syndromic patients with one of three types of conotruncal defects most commonly seen in DGS or VCFS were evaluated for a 22q11 deletion. DNA probes from within the DiGeorge critical region were used. Heterozygosity at a locus was assessed using restriction fragment length polymorphisms. Copy number was determined by dosage analysis using Southern blot analysis of fluorescence in situ hybridisation of metaphase spreads. Five of 17 patients were shown to have a 22q11 deletion when evaluated by dosage analysis. This study shows a genetic contribution to the development of some conotruncal cardiac malformations and alters knowledge regarding the risk of heritability of these defects in certain cases.

Abnormalities, Multiple↗
PubMedDate not supplied

[Rate of prenatal detection of congenital right heart defects].

Congenital right heart lesions (including tetralogy of Fallot, pulmonary valve stenosis, pulmonary atresia with intact ventricular septum, Ebstein's anomaly and dysplastic tricuspid valve) account for about 19% of congenital cardiac anomalies. We performed a retrospective study in order to assess the percentage of patients with significant right heart lesions (requiring therapy in the first year of life), which is detected prenatally and referred to a centre for perinatal treatment. From 1/1990 until 12/1997 congenital right heart lesions were diagnosed in 21 fetuses and 190 infants (211 patients. The majority of patients had tetralogy of Fallot (64%), less frequently we found critical pulmonary valve stenosis (9%), pulmonary atresia with intact ventricular septum (9%), tricuspid atresia (14%) and Ebstein's anomaly or dysplastic tricuspid valve (4%). Prenatally the cardiac anomaly was diagnosed in all 21 cases who were referred to our center (10%). The highest referral and detection rate was found among fetuses with Ebstein's anomaly or dysplastic tricuspid valve (5/8 patients = 63%) followed by fetuses with pulmonary atresia and intact ventricular septum (5/20 = 25%), critical pulmonary stenosis (4/18 = 22%) or tricuspid atresia (4/29 = 14%). The prenatal referral rate was disappointing in children with tetralogy of Fallot (3/136 = 2.2%). A higher prenatal detection rate of congenital right heart lesions can be achieved only by an improvement of prenatal screening including the 4-chamber view and the origin of the great arteries. A first step would be the inclusion of the fetal 4-chamber view into the routine examination during the 18th-20th week of pregnancy (stage 1 of a multistage concept of prenatal screening) and by assessment of the outflow tracts and the great arteries in pregnancies associated with risk factors or anomalies of the fetus (stage 2 and 3 of a multistage concept).

Echocardiography↗
PubMed1975

Acceptable size of the pulmonary valve ring in congenital cardiac defects.

Because congenital defects are being corrected at progressively younger ages, knowledge of the normal sizes of cardiac orifices and their acceptable limits is becoming increasingly important. A graphically corrected table of normal children's heights and pulmonary artery diameters is given. In addition, reasons are presented for the belief that a decrease in the cross-sectional area of up to 50% of normal may be considered acceptable during corrective procedures; in light of present knowledge any further decrease in cross-sectional area, in particular below 25% of normal, should probably not be left uncorrected.

Age Factors↗
PubMed1987

Occupation and pregnancy outcome.

Over a two year period, 1982-4, 56067 women, delivered or treated for a spontaneous abortion in 11 Montreal hospitals covering 90% of such admissions, were interviewed in detail regarding their occupational, social, and personal characteristics in their most recent and past pregnancies--104,649 in all. These data were analysed in relation to four main adverse outcomes--spontaneous abortion, stillbirth (without defect), congenital defect, and low birth weight (less than or equal to 2500 g). For comparison with observed numbers, expected figures were calculated by logistic regression using up to eight potentially confounding variables. Sixty occupational groups in six main industrial sectors were examined in current and previous pregnancies, with tests for heterogeneity between these two estimates of risk. Women in managerial, health, and clerical sectors had little evidence of excess of any of the four outcomes, by contrast with those in sales, service, and manufacturing sectors. Substantial and statistically significant excesses of spontaneous abortion were observed in nursing aides, women in sales occupations and food and beverage service; of stillbirth in agriculture and horticulture, leatherwork, and certain sales occupations; of congenital defects in women in child care, certain service occupations, and the manufacture of metal and electrical goods; and of low birth weight in chambermaids, cleaners, and janitors, and in women employed in the manufacture of food and drink, metal and electrical goods, and clothing.

Abortion, Spontaneous↗
PubMed2001

The risk for congenital heart defects in offspring of individuals with congenital heart defects.

BACKGROUND: Congenital heart defects (CHDs) occur in approximately 1% of all live births. Although most CHDs are of unknown etiology, a family history of CHDs is a known risk factor, and offspring of individuals with CHDs are at a higher risk of having CHDs. The aim of this study was to investigate the relative risk for CHDs to offspring of individuals with CHDs. METHODS: The prevalence rates of CHDs in offspring of 203 individuals with CHDs and 282 individuals without CHDs were investigated. The study participants completed a questionnaire that included information on medical and reproductive history, lifestyle indicators, and family history of CHDs and other congenital malformations. The prevalence rates of CHDs in offspring were calculated. RESULTS: The prevalence of CHDs was 3.1% (18/575) in offspring of individuals with CHDs and 1.3% (8/589) in offspring of individuals without CHDs. The adjusted odds ratio for CHDs to offspring of parents with CHDs was 1.73 (95% confidence interval [95% CI] 0.89-2.44, p=0.02). The estimated relative risk for offspring to females with CHD was higher than for males [2.3 (95% CI 1.1-4.7, p=0.03) versus 1.31 (95% CI 0.48-4.30, p=0.66), respectively]. There was no suggestion of association between CHDs and maternal smoking, alcohol consumption, and use of medication during pregnancy. CONCLUSIONS: Offspring of parents with CHDs are at a higher risk for CHDs compared with the general population. Couples where one member is affected with CHD should receive pre-conceptional or pre-natal genetic counseling and should be informed about the magnitude of the potential risk of CHDs to the offspring.

Family Health↗
PubMed2006

Homocysteine concentrations and molecular analysis in patients with congenital heart defects.

BACKGROUND: Congenital heart defects are the result of incomplete heart development and, like many diseases, have been associated with high homocysteine concentration. METHODS: We evaluated homocysteine, folic acid and vitamin B(12) concentrations, and the mutations 677C>T and 1298A>C in MTHFR, 844ins68 in CBS and 2756A>G in MTR genes in 58 patients with congenital heart defects, 38 control subjects, and mothers of 49 patients and 26 controls. RESULTS: Control and patients presented normal range concentrations for homocysteine (7.66 +/- 3.16 microM and 6.95 +/- 3.12 microM, respectively), folic acid (8.31 +/- 3.00 ng/mL and 11.84 +/- 10.74 ng/mL) and vitamin B(12,) (613.56 +/- 307.57 pg/mL and 623.37 +/- 303.12 pg/mL), which did not differ among groups. For the mothers studied, homocysteine and vitamin B(12) concentrations also did not differ between groups. However, folic acid concentrations of mothers showed significant difference, the highest values being in the group of patients. No difference was found in allele frequencies among all groups studied. CONCLUSIONS: In the studied groups, high homocysteine seems not to be correlated with congenital heart defects, as well as folic acid and vitamin B(12). The mutations studied, in isolation, were not related to congenital heart defects, but high concentration of maternal homocysteine is associated with the presence of three or four mutated alleles.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗
PubMed2002

Design and development of an Internet registry for congenital heart defects.

BACKGROUND: Congenital Heart Defects (CHD) are conditions that encompass more than 50 diagnoses and are due to developmental abnormalities early in fetal life. The King Faisal Specialist Hospital and Research Centre in the Kingdom of Saudi Arabia treats approximately 100 new cases per month. We recently developed a new CHD Registry that captures, stores and processes our data via the Internet. METHODS: The Registry was developed using Hypertext Markup Language (HTML), Microsoft Active Server Pages and Microsoft Structured Query Language (SQL). RESULTS: Details of CHD cases are captured in a World Wide Web (WWW) Registry, permitting any browser-enabled PC or Mac to participate fully in all registry functions, including data-entry, viewing, editing, searching, reporting, validating, charting, and exporting data subsets to statistics packages. It includes "administrative" features and an active security system. The paper forms have been designed to reflect the "look and feel" of the Web pages. Automatic validation procedures are also included. CONCLUSIONS: Our Registry has been in operation for 3 years. It serves 10 PCs and contains more than 3,000 registered cases of CHD. It is the first CHD Registry to be fully functional on the Internet. It is also the first dedicated CHD registry, and the first to routinely report on the full spectrum of CHD diagnoses. The WWW offers several logistical advantages to disease registries, especially those that represent large regions. It also offers the possibility of sharing resources between registries, facilitating the aggregation and analysis of disease data on a world-wide scale. This is useful for rare diseases such as CHD (see http://rc.kfshrc.edu.sa/chdr/demo/).

Adolescent↗
PubMed2004

The influence of pulmonary artery morphology on the results of operations for major aortopulmonary collateral arteries and complex congenital heart defects.

OBJECTIVE: Congenital heart defects with major aortopulmonary collateral arteries show marked variability in the size and distribution of native pulmonary arteries. We sought to classify the size and distribution of native pulmonary arteries and to determine their influence on surgical outcome. METHODS: Between 1989 and 2002, 164 patients underwent surgical intervention for congenital heart defects with major aortopulmonary collateral arteries (median age, 10 months). Three patterns of native pulmonary arteries were identified: intrapericardial native pulmonary arteries present (group I); confluent intrapulmonary native pulmonary arteries without intrapericardial native pulmonary arteries (group II); and nonconfluent intrapulmonary native pulmonary arteries (group III). Thirty-seven (23%) patients had single-stage and 76 (47%) patients had multistage complete repair. Thirty (18%) patients await septation, and 8 (5.0%) patients are not septatable. Follow-up is 98% complete (median follow-up, 5.8 years). RESULTS: In the 164 patients there were 15 (9.1%) early and 12 (7.3%) late deaths. Early mortality after complete repair was 4.4% (n = 5). Actuarial survival was 90% +/- 3% and 85% +/- 4% at 1 and 10 years, respectively. Actuarial freedom from surgical or catheter reintervention in septated patients was 77% +/- 4% and 45% +/- 8% at 1 and 10 years, respectively. On multivariate analysis, the morphology of the native pulmonary arteries was the only factor that influenced actuarial survival after complete repair (P =.04). Group III had the highest risk of death after septation (P =.008). Group II fared better than group III after the initial operation (P <.05). CONCLUSIONS: Current classifications of congenital heart defects with major aortopulmonary collateral arteries are based on the presence or absence of intrapericardial pulmonary arteries. We have identified a subgroup without intrapericardial native pulmonary arteries but with confluent intrapulmonary native pulmonary arteries. This group has a better outcome than those with nonconfluent intrapulmonary native pulmonary arteries.

Abnormalities, Multiple↗
PubMed1993

[Conditional logistic regression analysis of risk factors on congenital birth defects in Baotou].

Congenital defects are one of the common diseases in the newborns, and are important factors affecting the quality of the population. This survey was done to find risk factors related to congenital defects and to provide scientific basis for promoting birth quality. In this paper, a case-control study on 90 cases using 1:2 matching was carried out in Baotou area, and conditional logistic regression analysis showed that the following six major risk factors were associated with birth defects, i.e.: intake of certain drugs during pregnancy, exposure to radioactive rays, and contacting certain harmful chemical substances, common cold and fever during the period of pregnancy, smoking addiction of baby's father and the family history of certain defects of baby's parents.

Case-Control Studies↗