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PubMed1998

Treatment of deep and shallow intrabony defects. A multicenter randomized controlled clinical trial.

This prospective multicenter intra-individual randomized controlled clinical trial was designed to compare the efficacy of guided tissue regeneration (GTR) with bioresorbable barrier membranes versus access flap surgery, in intrabony defects. 2 similar defects were selected in each of 23 patients and randomly assigned to 1 of the 2 treatments. Surgery consisted of an identical procedure except for the omission of the barrier membrane in the flap control sites. At 1-year, probing pocket depth reductions were 4.3+/-2.3 mm in GTR treated sites and 3.0+/-1.5 mm in the flap control sites (p=0.02, paired t-test). Clinical attachment level (CAL) gains were 3.0+/-1.7 mm in the GTR sites and 1.6+/-1.8 mm in the control sites (p=0.009, paired t-test). A subset analysis, performed according to the initial depth of the intrabony component of the defects (INFRA), indicated that in shallow defects (INFRA < or =3 mm) treated with the access flap alone, CAL gains were 1+/-1.5 mm, while in deep ones (INFRA > or =4 mm) they were consistently greater (1.9+/-1.9 mm). The % CAL gains, calculated as the % of the baseline intrabony component depth, however, were almost identical in the 2 subpopulations (45.8+/-64.7% in shallow and 43.8+/-37.6% in deep defects). Similarly, in the GTR sites, linear CAL gains were greater in deep (3.7+/-1.7 mm) than in shallow defects (2.2+/-1.3 mm), but no differences were observed in terms of % CAL gains (76.7+/-27.7% and 75.8+/-45%, respectively). The frequency distribution of CAL changes expressed as %s of the baseline INFRA indicates that most of the sites treated with GTR (73% in shallow and 92% in deep defects) gained 50% or more CAL. Furthermore, many defects (64% of shallow and 33% of deep defects) reached 100% of CAL gain. The present study demonstrated that: (i) GTR with bioresorbable barrier membranes resulted in a significant added benefit in comparison with access flap alone; (ii) the linear amounts of CAL gains were greater in deep than in shallow defects; (iii) CAL gains expressed as %s of the baseline depths of the intrabony component, were similar in shallow and deep defects; (iii) the regenerative procedure tested in the present study resulted in CAL gains equal to the depth of the intrabony component of the defect in some, but not in most of the instances.

Absorbable Implants↗
PubMed2006

Associations of birth defects with adult intellectual performance, disability and mortality: population-based cohort study.

Infants born with birth defects have poorer outcomes in terms of mortality and disability, but the long-term intellectual outcome in children with birth defects is generally unknown. We assessed the long-term associations of various birth defects with mortality and disability, and evaluated whether high mortality and disability were reflected in impaired intellectual performance at age 18. In this nationwide cohort study, records of 9,186 males with and 384,384 without birth defects, registered in the Medical Birth Registry of Norway (1967-1979) were linked to the National Conscript Service (1984-1999). Mortality and disability before military draft, and intelligence test score at conscription were the main outcome measures. Males with birth defects had a relative risk for disability of 6.0 compared with males without defects. Disability was low within categories of birth defects associated with low mortality, and high within defect categories associated with high mortality. The relative risk for not being drafted was highest if maternal educational level was low. Heart defects and cleft palate were the only subgroups in which intellectual performance was lower after adjustment for maternal education, maternal age, marital status and birth order. In particular, intellectual performance was not impaired among those with multiple compared with single defects. We conclude that for the majority of birth defect categories in the present birth cohort, our hypothesis that intellectual performance would be impaired was not confirmed. Thus, there seems to be little reason to fear an adverse intellectual outcome in non-disabled surviving infants with birth defects.

Cohort Studies↗
PubMed1998

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

Male pseudohermaphroditism (MPH) is characterized by incomplete differentiation of male genitalia in the presence of testicular tissue. Enzymatic defects involving androgen synthesis or action are causes of MPH. We studied the molecular genetics of a large isolated inbred Turkish kindred with MPH due to either 5 alpha-reductase-2 (SRD5A2) or 17 beta-hydroxysteroid dehydrogenase-3 (17 beta HSD3) gene defects. Using single strand DNA conformational polymorphism analysis and DNA sequencing, a new mutation in exon 5 of SRD5A2 gene was detected in certain male pseudohermaphrodites from this kindred. This single base deletion (adenine) resulted in a frame shift at amino acid position 251 resulting in the addition of 23 amino acids at the carboxyl-terminal of this 254-amino acid isozyme. Transfection expression of the mutant isozyme in CV1 cells showed a complete loss of enzymatic activity in the conversion of [14C]testosterone to dihydrotestosterone, without a change in the messenger ribonucleic acid level compared to that of the wild-type isozyme. Analysis of the 17 beta HSD3 gene in other male pseudohermaphrodites from this kindred revealed a single point mutation (G-->A) at the boundary between intron 8 and exon 9, disrupting the splice acceptor site of exon 9. In this kindred, in addition to the identification of male pseudohermaphrodites with either a homozygous SRD5A2 or 17 beta HSD3 gene defect, other male pseudohermaphrodites were found to be genetically more complex: e.g. homozygous for the SRD5A2 defect and heterozygous for the 17 beta HSD3 defect, or homozygous for the 17 beta HSD3 defect and heterozygous for the SRD5A2 defect. Also, phenotypically normal carriers were identified with either one or both gene defects. Homozygous male pseudohermaphrodites with SRD5A2 or 17 beta HSD3 gene defects were phenotypically distinguishable by the presence of mild gynecomastia in the latter. Hormone data were consistent with the particular homozygous gene defect. In summary, we show 1) the novel existence of two gene defects, SRD5A2 and 17 beta HSD3, each causing MPH within a large isolated Turkish kindred; 2) that the two defects segregate independently and may be inherited from two different progenitors; and 3) analysis of a new mutation in exon 5 of SRD5A2 gene, supporting the functional importance of the carboxyl-terminal of 5 alpha-reductase-2 isozyme.

17-Hydroxysteroid Dehydrogenases↗
PubMed2006

An epidemiologic study of orofacial clefts with other birth defects in Victoria, Australia.

OBJECTIVE: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. METHODS: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, or multiple-system defect. Pregnancy outcome and associations with selected infant and maternal features was examined. RESULTS: One third of the 2022 oral clefts recorded had other birth defects. There were more overall cleft cases involving multiple systems and chromosomal anomalies than any other birth defect group. The prevalence ratio of cleft lip with or without cleft palate (CL/P) was highest among multiple-system defects and chromosomal anomalies. Perinatal mortality was high, with termination of pregnancy highest in CL/P and chromosomal anomalies and multiple-system defects. There was a nonsignificant excess of clefts among multiple births. Women >or=40 years old had a tendency toward having a child with a cleft palate and another birth defect. There was an increased likelihood that women born in the U.K. would have a baby with CL/P and another birth defect. CONCLUSIONS: This is among the first reports in Victoria, Australia, describing oral clefts and other birth defects and associations between infant and maternal factors. Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities.

Abnormalities, Multiple↗
PubMed1985

Evaluation of durapatite ceramic as an alloplastic implant in periodontal osseous defects. II. Twelve month reentry results.

Thirteen patients received Durapatite, a hydroxylapatite ceramic (Periograf), as a bone implant material in various types of intrabony defects following internally beveled full thickness flaps, root planing, and defect debridement. All osseous margins and defects were measured from the cemento-enamel junction (CEJ) at specific locations using a standardized periodontal probe. Similarly debrided, nonimplanted defects served as controls. Defect selection as either experimental or control site was based on an alternating defects design after local therapy was completed. Periodontal dressing and systemic tetracycline were used for 10 days. Postsurgical visits for documentation and plaque control were at 10, 20 and 30 days, and 3, 6, 9 and 12 months. Measurements relating to defect changes were made at the 12-month surgical reentry. For evaluation purposes original defect depths were divided into three groups. In Group I (less than 3 mm) defect fill was 1.0 mm (47%) for the implanted defects and 0.3 mm (33%) for the control sites (significantly different at P less than 0.05). In Group II (3-6 mm) defect fill of 1.7 mm (44%) for implanted sites was significantly better (P less than 0.05) than the 0.8 mm (29%) found in control sites. In the deepest group (Group III, greater than 6 mm) Durapatite placement yielded 2.1 mm (32%) of defect fill while debridement alone resulted in 1.8 mm (26%) of fill (P greater than 0.05). Hard tissue responses demonstrated a substantial advantage for use of Durapatite over controls, while soft tissue changes were similar for both.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Periodontal repair in dogs: healing in experimentally created chronic periodontal defects.

A need exists for well-defined animal models to objectively evaluate surgical principles and a possible role for biochemical wound conditioning and biomaterials in promoting periodontal regeneration. To test an existing model for its usefulness in quantitative evaluation of periodontal wound healing, large supraalveolar periodontal defects were surgically created around the mandibular premolars (P2, P3, P4) in left or right jaw quadrants in 5 beagle dogs. The defects were exposed to the oral environment for 6 months and were then subjected to reconstructive flap surgery (chronic defects). Healing in these defects was compared to healing following reconstructive surgery in similar contralateral defects which had not been exposed to plaque and calculus (acute defects). The animals were sacrificed after a 4-week healing period and tissue blocks including teeth and surrounding structures were processed for histometric analysis. Mean defect height (+/- s.d.) for chronic and acute defects amounted to 4.6 +/- 0.3 and 4.4 +/- 0.4 mm, respectively. Mean connective tissue repair to the root surface in chronic defects amounted to 62% (range 49% to 74%) of the defect height. Mean connective tissue repair in the acute defects exceeded 94% of the defect height in 4 of the dogs, but amounted to only 48% in 1 dog. Regeneration of alveolar bone and cementum was limited under both experimental conditions. Root resorption was frequently encountered, whereas ankylosis was seen in only few teeth. This study indicates that healing may vary not only as a result of controlled experimental variables, but also due to differences in biological response between dogs or to fortuitous traumatic factors.(ABSTRACT TRUNCATED AT 250 WORDS)

Alveolar Bone Loss↗
PubMed1999

Use of bovine-derived anorganic bone associated with guided tissue regeneration in intrabony defects. Six-month evaluation at re-entry.

BACKGROUND: Different filling materials have been associated with guided tissue regeneration (GTR) in order to improve its regenerative potential and predictability. Anorganic bovine bone (ABB) has demonstrated biocompatibility and osteoconductive properties; however, there are limited data regarding its performance in the treatment of intrabony defects. This investigation aimed to evaluate the clinical outcome of the association of anorganic bovine bone with cellulose membranes in intrabony defects after 6 months. METHODS: Twenty-six paired intrabony defects were selected from 11 non-smoking patients with no relevant medical history. The defects were similar regarding the number of bony walls and defect depth, and presented pocket depths > or = 6 mm. Four weeks after completion of basic therapy, probing depth (PD), clinical attachment level (CAL), and gingival margin position (GP) were recorded (baseline values). The defects were then surgically accessed and debrided, and the intrabony component measured to the nearest millimeter with periodontal probes and customized acrylic stents (distance from the stent to the base of the defect and from the stent to the alveolar crest). Each intrabony defect was randomly assigned to receive the membrane alone (control, C) or the membrane with anorganic bovine bone (test, T). The patients were re-evaluated after 6 months, and re-entry procedures were performed. RESULTS: Significant (P <0.01) improvement in all variables was observed: mean pocket reduction of 4.61+/-1.60 mm (C) and 4.46+/-1.50 mm (T) and clinical attachment gain of 2.85+/-1.46 mm (C) and 3.15+/-1.40 mm (T); the difference between groups was not significant (P >0.05). Nevertheless, gingival recession in the control group (1.84+/-0.89 mm) was significantly (P <0.05) more pronounced than that observed in the test group (1.30+/-0.48 mm). Bone measurements indicated a significant resolution of the defects (P <0.01). A mean defect resolution of 2.76+/-0.72 mm (C) and 2.69+/-1.03 mm (T) and crestal resorption of 1.07+/-0.64 mm (C) and 1.30+/-0.85 mm (T) were detected (P >0.05). Stepwise multiple regression analysis indicated that for both groups, the baseline depth of the defects and the alveolar crest resorption accounted for 82% of the variability of bone fill observed in the control group (F = 23.65, P <0.001) and 89% in the test group (F = 41.32, P <0.001). CONCLUSIONS: ABB may be used in conjunction with GTR in the treatment of intrabony defects. Its use, however, did not result in a better outcome than the use of membranes alone. Studies employing more patients would be of interest in order to determine the advantages and indications of the tested approaches on a more predictable basis.

Adult↗
PubMed2001

Hyaluronan supports recombinant human bone morphogenetic protein-2 induced bone reconstruction of advanced alveolar ridge defects in dogs. A pilot study.

BACKGROUND: Prosthetic-driven implant dentistry requires predictable procedures for alveolar ridge augmentation. The objective of this pilot study was to evaluate bone regeneration in mandibular, full-thickness, alveolar ridge, saddle-type defects following surgical implantation of recombinant human bone morphogenetic protein-2 (rhBMP-2) in a novel hyaluronan (HY) sponge carrier. This sponge was fabricated from auto-crosslinked HY. METHODS: Alveolar ridge defects (approximately 15 x 10 x 10 mm), 2 per jaw quadrant, were surgically prepared in each of 3 young adult American fox hounds. Four defects were immediately implanted with rhBMP-2/HY. Three defects were implanted with rhBMP-2 in an absorbable collagen sponge (ACS) carrier (positive control). The rhBMP-2 solution (1.5 ml at 0.2 mg/ml) was soak-loaded onto the HY and ACS sponges. Three defects were implanted with HY sponges soak-loaded with buffer without rhBMP-2 (negative control), while 2 defects served as surgical controls. The animals were euthanized at 12 weeks postsurgery for histometric analysis. RESULTS: Clinically, alveolar ridge defects receiving rhBMP-2/ACS exhibited a slight supracrestal expansion, while defects receiving rhBMP-2/HY were filled to contour. In contrast, the HY and surgical controls exhibited ridge collapse. rhBMP-2/HY-treated defects exhibited a dense bone quality without radiolucent regions observed in defects treated with rhBMP-2/ACS. The histometric analysis showed 100% bone fill for the rhBMP-2/ACS defects and 94%, 58%, and 65% bone fill for the rhBMP-2/HY, HY, and surgical control defects, respectively. CONCLUSIONS: The conclusions are based on data from 2 of 3 animals in the study. In one animal, no response to rhBMP-2 was observed with either carrier, and the animal may have been a non-responder of unknown nature. With this limitation, the observations herein suggest that: 1) HY supports significant bone induction by rhBMP-2; 2) the rhBMP-2-induced bone assumes qualities of the immediate resident bone; 3) HY alone exhibits no apparent osteoconductive potential; and 4) HY appears to resorb within a 12-week healing interval in the absence or presence of rhBMP-2. Thus, HY appears to be a suitable candidate carrier for rhBMP-2.

Absorbable Implants↗
PubMed1996

Evaluation of selective wrist arthrography of contralateral asymptomatic wrists for symmetric ligamentous defects.

OBJECTIVE: The objective of this investigation was to study the role of selective wrist arthrography of the asymptomatic wrists of patients with unilateral wrist pain and the efficacy of three-compartment and selective-compartment injections of contrast medium into the asymptomatic wrist in demonstrating symmetric and asymmetric intercarpal ligament and triangular fibrocartilage communicating defects. SUBJECTS AND METHODS: Wrist arthrography with bilateral three-compartment injections was performed for 62 patients with unilateral wrist pain. The numbers of bilateral intercarpal ligament and triangular fibrocartilage communicating defects were recorded. The results obtained with three-compartment injections in each wrist of these patients were compared with those obtained with single-compartment injections. RESULTS: Bilateral three-compartment injections identified 110 communicating defects (59 in the symptomatic and 51 in the asymptomatic wrists). Midcarpal injections showed all 36 scapholunate and lunatotriquetral ligament defects that were also shown by three-compartment injections in asymptomatic wrists. However, only 26 (72%) of these 36 ligament defects were shown by radiocarpal injections. No single-compartment injection showed all triangular fibrocartilage defects that were shown by three-compartment injections. Ten bilateral symmetric triangular fibrocartilage communicating defects were shown by three-compartment injections. All 10 triangular fibrocartilage communicating defects in asymptomatic wrists were shown by radiocarpal injections. However, only five of the 10 triangular fibrocartilage communicating defects in asymptomatic wrists were shown by injection of the distal radioulnar joints. CONCLUSION: Selective midcarpal injection of an asymptomatic wrist showed all matching defects in that wrist when only intercarpal ligament defects were found in the symptomatic wrist. Similarly, selective radiocarpal injection of an asymptomatic wrist showed all matching defects of the triangular fibrocartilage in that wrist. In either situation, routine injection of all three compartments of the asymptomatic wrist should not be necessary.

Adolescent↗
PubMedDate not supplied

[Microvascular free flaps and care of war injuries with tissue defects].

BACKGROUND: War wounds caused by modern infantry weapons or explosive devices are very often associated with the defects of soft and bone tissue. According to their structure, tissue defects can be simple or complex. In accordance with war surgical doctrine, at the Clinic for Plastic Surgery and Burns of the Military Medical Academy, free flaps were used in the treatment of 108 patients with large tissue defects. With the aim of closing war wounds, covering deep structures, or making the preconditions for reconstruction of deep structures, free flaps were applied in primary, delayed, or secondary term. The main criteria for using free flaps were general condition of the wounded, extent, location, and structure of tissue defects. The aim was also to point out the advantages and disadvantages of the application of free flaps in the treatment of war wounds. METHODS: One hundred and eleven microvascular free flaps were applied, both simple and complex, for closing the war wounds with extensive tissue defects. The main criteria for the application of free flaps were: general condition of the wounded, size, localization, and structure of tissue defects. For the extensive defects of the tissue, as well as for severely contaminated wounds latissimus dorsi free flaps were used. For tissue defects of distal parts of the lower extremities, scapular free flaps were preferred. While using free tissue transfer for recompensation of bone defects, free vascularized fibular grafts were applied, and in skin and bone defects complex free osteoseptocutaneous fibular, free osteoseptocutaneous radial forearm, and free skin-bone scapular flaps were used. RESULTS: After free flap transfer 16 (14.4%) revisions were performed, and after 8 unsuccessful revisions another free flaps were utilized in 3 (37.5%) patients, and cross leg flaps in 5 (62.5%) patients. CONCLUSION: The treatment of war wounds with large tissue defects by the application of free microvascular flaps provided shorter wound-closing period, earlier beginning of physical therapy, as well as the treatment of great number of patients with the extensive tissue defects in the conditions of massive influx of the wounded.

Adolescent↗
PubMed2000

[Ultrasonic evaluation of paravaginal defects before and after surgical treatment in women with urinary stress incontinence].

OBJECTIVE: The aim of our study was to analyze whether transabdominal and introital ultrasonography can accurately identify paravaginal defect associated with GSI (Genuine stress urinary incontinence) and to determine the changes after paravaginal defect repair. DESIGN: Prospective randomised clinical study. SETTING: Department of Obstetrics and Gynecology, Charles University, Prague, Czech Republic. METHODS: Sixteen women with GSI, who had previously not undergone anti-incontinence surgery were involved. Their average age was 52 years, average weight 71 kg and average parity 2.0. Within vaginal examination our attention was focussed on the diminution of sulsus superioris vaginae during Valsalva maneuver. The bladder of a patient in supine position was filled with 300 ml of sterile saline. Than a 5 MHz curved array probe was used to assess the bladder neck mobility from the perineal approach, and the same probe was used from the abdominal approach to determine paravaginal defect and subsequently a vaginal probe from introital approach was used for the rest of the examination. After Burch colposuspension and paravaginal defect repair US scanning was performed 6 till 8 days and 5 or 6 weeks after operation. RESULTS: We found significant differences in bladder neck position and mobility before and after the operation. In women with symptoms of GSI we found from abdominal approach unilateral or bilateral paravaginal defect in fifteen women. Unilateral defect was found on the right side six times and on the left side only once. In eight women the defect was bilateral. The introital approach obtained similar results, only in two patients with bilateral defect the examination concluded unilateral right defect. After the operation we did not find PVD in patients after paravaginal defect repair. We obtained worse results from vaginal examination, where preoperatively PVD was correctly determined (sensitivity) only in 82.6%. CONCLUSION: From our preliminary results we can suggest performing US scanning to conform paravaginal defect before anti-incontinence surgery and possibly adding to the Burch colposuspension paravaginal defect repair to correct cystourethrocele.

Female↗
PubMedDate not supplied

Prevalence of dental caries and enamel defects in Connecticut Head Start children.

PURPOSE: The aim of this study was to determine the prevalence of dental caries and enamel defects in a sample of predominantly African American and Hispanic children from an inner city Head Start program located in Connecticut. METHODS: A total of 517 children were examined for dental caries and enamel defects. Children's caries experience was described using the dmfs/t indices, and dental defects were described using a modified developmental defects of enamel index. RESULTS: The mean dmfs was 3.0, and 38% of the children had caries. The prevalence of enamel defects was 49%. When analyzed by race/ethnicity no significant differences in dmfs scores or the prevalence of defects were observed. The majority of defects were located on anterior teeth, and the type of defect varied with the location. On the buccal surface of canines, hypoplasia accounted for 70% of the lesions. On maxillary anterior teeth, linear opacities accounted for 50% of the lesions. A positive association between enamel defects and caries was observed. CONCLUSIONS: The prevalence of caries and defects in these Head Start children was high, with most defects located on anterior teeth. Enamel defects were associated with an increased caries incidence.

Chi-Square Distribution↗
PubMed2003

Prevalence of birth defects and rubella infection in pregnant women in Gansu, west China. A survey.

OBJECTIVE: To determine the incidence, disease types, sequence of birth defects and prevalence of IgG and IgM in rubella infection in prepregnancy and pregnancy within 3 months in Gansu, People's Republic of China, and to determine a baseline of birth defects for an intervention project on birth defects in Gansu. STUDY DESIGN: Liveborn and stillborn infants from January 1, 2001, to January 1, 2002, and 518 prepregnant and 373 pregnant women in 3 months in 4 counties, including 42 communities selected random by stratification cluster sampling for a survey on the economic and geographic features in the province in October 2001 were investigated. Every infant born in the study period was surveyed. The types of birth defects were classed by standard diagnostic codes (ICD-9). Five-milliliter blood samples were obtained from every prepregnant and pregnant women. Rubella IgG and IgM were measured by enzyme-linked immunosorbent assay. RESULTS: The overall number of birth defects in Gansu was 102 (16.35%). The incidence of birth defects by sex was 62 males (18.55%) and 40 females (13.9%). The types of birth defects were neural tube defect, 44 cases (7.07%); limb defects, 13 (2.09%); cleft lip and palate, 5 (0.8%); and Down syndrome, 3 (0.48%). Low birth weight occurred in 31 cases (4.98%). The seasonal incidence birth defects was spring, 24 cases (23.52%); summer, 31 (30.39%); autumn, 26 (25.49%); and winter, 21 (20.59%). There were significant differences between 4 counties. The death rate from birth defects was 48 cases (47.06%). The positive rates of IgM and IgG of rubella infection of prepregnant women were, respectively, 5.02% and 83.78%; in pregnant women they were, respectively, 2.41% and 86.33%. The seropositive rate of rubella infection of prepregnancy was 88.80%; that of pregnancy was 88.74%. CONCLUSION: The rate of rubella infection in prepregnant and pregnant women within 3 months in Gansu was one of the highest in the People's Republic of China. The rate of birth defects in Gansu was one of much higher than in the People's Republic of China as a whole.

Adult↗
PubMed1989

Clinical-epidemiologic assessment of pattern of birth defects associated with human teratogens: application to diabetic embryopathy.

The concepts of sensitivity, specificity, and predictive value can be used to assess patterns of birth defects associated with human teratogens. Although sensitivity of any single defect is generally low for many known teratogens, the presence of specific defect combinations is usually predictive of the teratogen. To evaluate the patterns of birth defects associated with diabetic embryopathy, a sensitivity-specificity analysis was performed on 4929 infants with major defects ascertained by the population-based Metropolitan Atlanta Congenital Defects Program between 1968 and 1980. By reviewing hospital records, maternal insulin-dependent diabetes mellitus was confirmed in 26 infants. Patterns of defects were evaluated among infants born to mothers with insulin-dependent diabetes mellitus and compared with the rest of the Metropolitan Atlanta Congenital Defects Program case population. Multiple logistic regression analysis was used to assess defect combinations that predict for insulin-dependent diabetes mellitus. Of 26 infants, 8 had multiple defects. However, most defects and their combinations were poorly sensitive and predictive for insulin-dependent diabetes mellitus. The predictive value for insulin-dependent diabetes mellitus was greatest for the combination of vertebral and cardiovascular anomalies (6.5%). Also, several pathogenetic mechanisms were noted among patients with insulin-dependent diabetes mellitus, such as cell migration defects, cell death events, deformations, and cardiac flow lesions. The inability to find a clear-cut phenotype for diabetic embryopathy may be due to several etiologic factors and mechanisms associated with diabetic embryopathy.

Abnormalities, Drug-Induced↗
PubMed1984

Perinatal management of ventral wall defects.

Reported is the analysis of morbidity, mortality, and mode of delivery in 38 cases of ventral wall defects identified from among 128,500 consecutive live births in Maine (January 1975 to December 1982). Thirteen of the ventral wall defects were classified as gastroschisis, and only one had an additional defect not directly attributable to the ventral wall defect itself. By contrast, 16 of the 25 omphalocele cases had additional defects, including eight congenital heart lesions, four genitourinary malformations, two neural tube defects, and three trisomies. Ten cases of omphalocele and one of gastroschisis died, all as a result of independent defects or involvement of adjacent structures. Intrauterine growth retardation was prominently associated with gastroschisis. Vaginal delivery occurred in three of the six ventral wall defects diagnosed antenatally and in 28 of the 32 ventral wall defects not diagnosed until delivery. The only episode of birth trauma to ventral wall defect sac or abdominal viscera occurred during cesarean section in an undiagnosed case. The present data provide a basis for prognosis and management of antenatally diagnosed ventral wall defects and suggest that these defects are not, a priori, an indication for abdominal delivery.

Abdominal Muscles↗
PubMed2005

Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study.

BACKGROUND: Observational studies and clinical trials have suggested that periconceptional use of folic acid can reduce the risk of birth defects other than neural tube defects (NTDs). Using data reported by states to the National Birth Defects Prevention Network, we examined whether folic acid fortification might have decreased the prevalence of other specific birth defects. METHODS: For each of 16 birth defect categories selected for study, birth prevalence for two time periods was calculated with data submitted from a number of states in 1995-1996 ("pre-fortification") and 1999-2000 ("post-fortification"). Changes in birth prevalence between the two time periods were assessed by calculating prevalence ratios and 95% confidence intervals for each defect, and compared by maternal race/ethnicity and availability of prenatally diagnosed cases. RESULTS: We confirmed previously reported reductions in the birth prevalence of NTDs. In addition, we found modest, yet statistically significant, decreases in the birth prevalence for transposition of the great arteries(12%), cleft palate only (12%), pyloric stenosis (5%), upper limb reduction defects (11%), and omphalocele (21%). More substantial subgroup decreases were observed for renal agenesis among programs that conduct prenatal surveillance (28%), for common truncus among Hispanics (45%), and for upper limb reduction defects among Hispanics (44%). There were modest yet significant increases in the prevalence of obstructive genitourinary defects (12%) and Down syndrome (7%), but not among programs conducting prenatal surveillance for these defects. CONCLUSIONS: These results suggest some modest benefit from the folic acid fortification on the prevalence of a number of non-NTD birth defects.

Congenital Abnormalities↗
PubMed1998

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

BACKGROUND: Congenital heart defects are generally assumed to have a multifactorial aetiology. We have tested this hypothesis by studying adults with heart defects and their families. METHODS: We identified 1094 patients who survived surgery for major cardiac defects before 1970. We chose individuals with disturbance of situs or segmental connection, with atrioventricular septal defect or with tetralogy of Fallot. After exclusion and non-participation, 727 individuals were traced. Each was visited by an investigator and completed a detailed questionnaire. If possible, all "normal" offspring were examined by a paediatric cardiologist. FINDINGS: The 727 individuals had 393 live offspring. There were 71 miscarriages and five terminated pregnancies. Overall, we found recurrent heart defects in 16 liveborn offspring--a recurrence risk of 4.1%. This result differed significantly from sibling risk (2.1%; p=0.021). More congenital heart defects occurred in the offspring of affected women than in those of affected men (p=0.047); when all malformations (cardiac and non-cardiac) in the offspring were taken into account the excess was more significant (p=0.032). We found an excess of miscarriages in the offspring of affected women (p=0.001). In tetralogy of Fallot, heart defects occurred in seven (3.1%) of 223 offspring, 12 (2.2%) of 539 siblings, five (0.3%) of 1575 second-degree relatives, and eight (0.3%) of 2728 third-degree relatives. INTERPRETATION: Our findings do not support a polygenic basis for all heart defects. Atrioventricular septal defect seems to be a single-gene defect and tetralogy of Fallot a polygenic disorder with a small number of interacting genes. Our data suggest that isolated transposition of the great arteries is a sporadic defect.

Adult↗
PubMed2006

Folate intake and the primary prevention of non-neural birth defects.

OBJECTIVES: To investigate whether maternal periconceptional folate intake is associated with a reduction in selected non-neural birth defects in Western Australia (WA). METHODS: Case-control study of folate intake in women whose infants had orofacial clefts (62); congenital heart defects (151); urinary tract defects (117); limb reduction defects (26); or other major birth defects (119); and 578 control women. RESULTS: Neither folic acid supplements nor dietary folate intake in women not using supplements was significantly associated with a reduction in risk in any of the case groups. In contrast to neural tube defects, WA population data for orofacial clefts, heart defects, limb reduction defects and urinary tract defects showed no fall in prevalence since the introduction of folate promotion and voluntary food fortification. CONCLUSIONS: This study provides no evidence of folate being an important factor in the prevention of birth defects other than neural tube defects.

Case-Control Studies↗