Infertility treatment and children's longitudinal growth between birth and 3 years of age.

STUDY QUESTION: Does early childhood growth from birth through to 3 years of age differ by mode of conception? SUMMARY ANSWER: Findings suggest early childhood growth was comparable for children irrespective of infertility treatment, but twins conceived with ovulation induction with or without intrauterine insemination (OI/IUI) were slightly smaller than twins conceived without treatment. WHAT IS KNOWN ALREADY: Although studies have found that babies conceived with infertility treatment are born lighter and earlier than infants conceived without treatment, little research especially for non-assisted reproductive technology (ART) treatments has focused on their continued growth during early childhood. STUDY DESIGN, SIZE, DURATION: Upstate KIDS recruited infants born (2008-2010) to resident upstate New York mothers. Infants were sampled based on birth certificate indication of infertility treatment; specifically, for every singleton conceived by infertility treatment, three singletons without infertility treatment were recruited and matched on region of birth. All multiple births irrespective of treatment were also recruited. Children were prospectively followed, returning questionnaires every 4-6 months until 3 years of age. In total, 3905 singletons, 1129 sets of multiples (96% of whom were twins) enrolled into the study. Analyses included 3440 (88%) singletons (969 conceived with treatment; specifically, 433 with ART and 535 with OI/IUI) and 991 (88%) sets of multiples (439 conceived with treatment; specifically 233 with ART and 206 with OI/IUI) with growth data available. PARTICIPANTS/MATERIALS, SETTING, METHODS: Mothers reported infertility treatment use at baseline and children's height and weight from pediatric visits. Self-reported use of ART was previously verified by linkage with the US Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) database. Mixed linear models with cubic splines accounting for age and age-gender interactions were used to estimate mean differences in growth from birth to 3 years by infertility treatment status and adjusting for maternal age, race, education, private insurance, smoking status during pregnancy, maternal pre-pregnancy and paternal body mass indices (BMI). MAIN RESULTS AND THE ROLE OF CHANCE: Compared with singletons conceived without treatment (n = 2471), singletons conceived by infertility treatment (433 by assisted reproductive technologies (ART), 535 by OI/IUI and 1 unknown specific type) did not differ in growth. Compared with twins not conceived with treatment (n = 1076), twins conceived with OI/IUI (n = 368) weighed slightly less over follow-up (122 g). They were also proportionally smaller for their length (-0.17 weight-for-length z-score units). No differences in mean size over the 3 years were observed for twins conceived by ART, though some evidence of rapid weight gain from birth to 4 months (adjusted OR 1.08; 95% CI: 1.00-1.16) suggestive of catch up growth was observed. LIMITATIONS, REASONS FOR CAUTION: Participants from upstate New York may not be representative of US infants. Although accounted for in statistical analysis, attrition during follow-up may have limited power to detect small differences. WIDER IMPLICATIONS OF THE FINDINGS: This study is the first to prospectively track the growth of children conceived with and without infertility treatment in the USA, including a substantial number of twins. Our findings are similar to what was previously observed in the ART literature outside of the states. STUDY FUNDING/COMPETING INTERESTS: Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts #HHSN275201200005C, #HHSN267200700019C). Authors have no competing interests to declare. TRIAL REGISTRATION NUMBER: Not applicable.

Prospective quantitative assessment of spinal range of motion before and after minimally invasive surgical treatment of vertebral body fractures.

INTRODUCTION: Randomized clinical trials have generated doubts regarding the therapeutic effectiveness of spinal kyphoplasty to reduce pain and improve quality of life in patients with vertebral fractures. There is a paucity of data on the influence of kyphoplasty on spinal range of motion. To quantify early postoperative changes following kyphoplasty in spinal motion, a noninvasive, radiation-free measurement method was used and results related to clinical and radiological parameters. METHODS: The study group included 30 patients with an overall number of 54 symptomatic pathological vertebral compression fractures. All patients were treated with balloon kyphoplasty. Clinical results were recorded using the visual analog scale, SF 36, Roland Morris Score and the Oswestry Disability Index, at three time points; preoperative, 2 days postoperative, and at 12 weeks postoperative. The kyphosis angle/sagittal index were determined with biplanar X-rays. Amplitude/velocity of motion in extension/flexion was measured at each time point by use of the EpionicsSPINE(©) system (Epionics Medical GmbH; Potsdam, Germany) using two external sensor strips. RESULTS: Preoperative magnetic resonance imaging scans showed bone marrow edema in all vertebral bodies indicative of a recent, non-consolidated fracture. Pain and quality of life was significantly improved by kyphoplasty, both for the immediate postoperative period, as well as at 12 weeks postoperative. Radiological parameters also showed significant improvement following surgery. Total ROM did not significantly change 2 days after kyphoplasty, but amplitude and velocity were found to be increased 12 weeks postoperatively. Significant positive correlations were observed between increased range of motion and improved clinical/radiological scores. CONCLUSION: Significant clinical and radiological improvement following kyphoplasty supports the rational for cement augmentation in patients with pathological vertebral body fractures. To the knowledge of the authors, no prior study has assessed the influence of preservation and improvement of spinal range of motion on clinical outcome following kyphoplasty.

[Complications after osteosynthetic treatment of acetabular fractures]. / Komplikationen nach osteosynthetischer Versorgung von Azetabulumfrakturen.

The early work of Judet and Letournel in the 1970s and 1980s led to a paradigm shift in the treatment of acetabular fractures. The previously purely conservative treatment was replaced more and more by open surgical approaches. The complex, three-dimensional bony anatomy and the periacetabular soft tissue with a close topographic relationship to intrapelvic and extrapelvic neurovascular and visceral structures implicate an increased rate as well as a high risk for intraoperative and postoperative complications. Simultaneously, anatomical reconstruction with a gap step-off less than 1-2 mm is required. Fractures of the acetabulum are comparatively rare and only few trauma centers have the capability and the infrastructure to treat acetabular fractures. Therefore, the aim of this review was to illustrate the possible intraoperative and postoperative complications of osteosynthetic treatment of acetabular fractures as well as to identify possible strategies for treatment and prevention.

[Solitary spinal metastases. Is aggressive surgical management justified?]. / Solitäre Metastasen der Wirbelsäule. Indikationen für eine aggressive chirurgische Therapie?

Advances in oncological and surgical therapies have led to a significant increase in life expectancy of cancer patients and also prolonged survival of patients with isolated or multiple metastases. Among the skeletal manifestations the spine is the most often affected site. Using novel imaging techniques with higher resolution and use of metabolic signatures, the screening of cancer patients has improved considerably. Consequently, the diagnosis of metastases is becoming increasingly more sensitive. Therefore, but also due to more effective polychemotherapy protocols, singular or solitary metastases are more frequently observed either in the early stages or as a result of a controlled malignant tumor entity (stable disease). The questions whether a solitary metastasis really exists (illusion or reality?) and its radical oncological and surgical treatment as a circumscribed singular tumor manifestation, is really relevant for the overall prognosis, remains controversial. However, it seems evident that a biologically favorable underlying tumor biology, radical treatment of the primary tumor and a long metastasis-free interval are valid predictors of a good oncological outcome. In the presence of a solitary metastasis under these circumstances (typical example: solitary metastasis of renal cell carcinoma many years after radical tumor nephrectomy) a radical surgical procedure (en bloc spondylectomy) can significantly improve the long-term prognosis of this patient group in combination with adjuvant chemotherapy and/or radiotherapy. However, a thorough evaluation of the overall survival prognosis, a detailed and complete staging followed by a treatment consensus in the interdisciplinary tumor board has to precede any therapeutical decisions.

[Manifestation of osteosarcoma of chronic osteomyelitis: 2 case reports]. / Osteosarkommanifestation bei chronischer Osteomyelitis: 2 Fallberichte.

The treatment and outcome of two patients suffering from osteosarcoma of the lower extremity evolving many years after manifestation of chronic osteomyelitis are reported. After neoadjuvant polychemotherapy in one patient en bloc resection, interposition of a cement spacer and stabilization was performed in both cases. After eradication of infections final segmental reconstruction was accomplished by knee arthrodesis using rotation plasty of the split femoral condyle, free local fibula transposition and gastrocnemius muscle transfer. A custom-made diaphyseal replacement (3D-rapid prototyping titanium mesh) was used for defect reconstruction. After 1 year postoperative follow-up and restaging both patients showed no evidence of recurrent disease and had no local or systemic signs of infection.

[Biomechanical aspects of complex reconstructions following radical resection of thoracolumbar spinal tumors]. / Biomechanische Aspekte radikaler Resektionen und deren Rekonstruktion an der thorakolumbalen Wirbelsäule.

The total number of spinal tumors has increased over the past decade. However, the average survival time of tumor patients has increased due to improvements in the multidisciplinary treatment regimes. Therefore, radical tumor resection and complex reconstruction were developed in spinal surgery. Various reconstructive options for the throracolumbar spine are nowadays available and are depicted in this article. The success of complex reconstructive surgery relies on biomechanical principles and reconstruction is dependent on the size and location of the lesion, bone porosity and implant systems used. Special emphasis of this article focuses on en bloc vertebrectomy which is the most radical approach of spinal tumor surgery. The biomechanical aspects of different types of lesions and the reconstructive options are discussed in the context of the currently published literature.

[Surgical management of thoracolumbar spinal sarcoma]. / Chirurgisches Management von Sarkomen der thorakolumbalen Wirbelsäule.

Primary malignant tumors of the thoracolumbar spine are very rare. The most common entities are chordoma, followed by osteosarcoma, Ewing's sarcoma and chondrosarcoma. Detailed imaging and a sequential biopsy are the most important diagnostic steps. The surgical staging system of Weinstein and Boriani permits a precise analysis of tumor expansion. Therapy under a multimodal concept consists of (neo-) adjuvant therapy and possible radiation. The surgical therapy should be performed as an en bloc excision with sufficient resection borders. The reconstruction of the defects must include methods of vertebral body replacement and long posterior instrumentation. En bloc spondylectomy is a very demanding technique and demands strict indications, close cooperation with adjacent specialties and exact planning of the operation. Only in this manner is the operation possible and offers the only sufficient form of resection. The execution of the en bloc spondylectomy should be left to spine centers with great experience, as they could also guarantee the respective complication management.

Minimally invasive combined anterior kyphoplasty for osteolytic C2 and C5 metastases.

Kypho- and vertebroplasty are widely accepted for treating patients suffering from pathologic thoracolumbar lesions, in particular diffuse metastatic-induced fractures. They provide rapid pain relief and the restoration of spinal stability. In the cervical spine, attempts have been made to use cement augmentation for these indications. However, the cervical spine's anatomy complicates the transpedicular approach, as well as the pre-formation of a vertebral body cavity and the application of bone cement. We report the case of a 46-year-old woman suffering from symptomatic C2 and C5 osteolysis caused by metastatic breast cancer. Following a surgical staging and classification (Tokuhashi-Score) that indicated palliative procedures, we performed a C2 and C5 kyphoplasty using one minimal-invasive anterior approach through a small incision. We observed an uneventful procedure and postoperative course as well as immediate pain relief and patient mobilization. Last patient follow-up at 3 months showed an excellent outcome. Our observations showed cervical spine kyphoplasty via a minimally invasive anterior approach to be feasible, successful and safe surgical method in the interdisciplinary palliative treatment.

Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

OBJECTIVES: To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. METHODS: Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth Defects Prevention Study (NBDPS) with estimated dates of delivery from 1 October 1997 through 31 December 2003 were included. A computer-assisted telephone interview with mothers was conducted. Occupational coding using the 2000 Standard Occupational Classification System and the 1997 North American Industry Classification System was completed for all jobs held by mothers. Jobs held from 1 month before pregnancy to the end of the third pregnancy month were considered exposures. Logistic regression models were run, adjusted for potential confounders. We also used a Bayesian approach to logistic regression. RESULTS: Approximately 72% of case mothers and 72% of control mothers in the NBDPS were employed. Several occupational groups were positively associated with one or more birth defects, including janitors/cleaners, scientists and electronic equipment operators. Using standard logistic regression, we found 42 (26 for Bayesian) significantly elevated risks of birth defects in offspring of working mothers. In addition, several other occupational groups were found to be negatively associated with one or more birth defects, including teachers and healthcare workers. Using standard logistic regression, we found 12 (11 for Bayesian) significantly reduced risks of birth defects among offspring of working women. CONCLUSIONS: Results from these analyses can be used for hypothesis generating purposes and guiding future investigations of occupational exposures and birth defects.

Current surgical strategies for treating spinal tumors: Results of a questionnaire survey among members of the German Spine Society (DWG).

PURPOSE: Questionnaire survey among the members of the German Spine Society (Deutsche Wirbelsäulen-Gesellschaft, DWG) to objectify oncological infrastructure and current standard of care in spinal tumor treatment in Germany. METHODS: All DWG-members were contacted via the society's e-mail and asked to respond in anonymized form to a related questionnaire. Questions were asked regarding surgical specialty, type of institution involved, numbers of spinal procedures, as well as questions on treatment for primary tumors, whether the respondent belonged to a tumor center, decision-making procedures for surgery, and the type of procedure. RESULTS: 84 centers providing surgical treatment for spinal tumors in their departments were identified. 52.6% were carrying out more than 500 spinal procedures per year. There was a significant association (P ≤ 0.05) between the numbers of spinal surgeries, the number of treated tumor patients per year, the organisation in a tumor center and the treatment of primary tumors. 76% are part of a local tumor center for interdisciplinary decision making (i.e.surgical treatment and adjuvant therapy). 74% of the institutions stated that conventional postoperative radiotherapy is standardly administered in the case of secondary lesions, with 24% of them referring patients to external services for radiotherapy. CONCLUSION: In spite of often large numbers of spinal operations, the centers perform relatively small numbers of tumor operations, particularly for primary tumors. A nearly three-quarter majority of the departments are integrated into interdisciplinary tumor care. However, there is a marked number that do not belong to an interdisciplinary organisation. Further advances in multidisciplinarity and oncology training are a continuous issue to increase treatment quality in spinal tumor patients.

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians.

Serial ankle casts for patients with idiopathic toe walking: effects on functional gait parameters.

PURPOSE: The aim of the present study was to investigate the functional effects on gait parameters of serial ankle casts for patients with idiopathic toe walking (ITW), in comparison with an unremarkable control group. METHODS: A prospective trial with a pre-test-post-test control group design included ten patients with ITW and ten healthy matched children. Children with ITW underwent serial casting to stretch the plantar flexors, with two 14-day periods with walking plaster casts set at the maximum available ankle dorsiflexion. Both groups were assessed clinically and using a functional gait analysis before and after serial casting, as well as at a six-month follow-up visit. RESULTS: The normalized plantar heel force increased from 5% pre-interventionally to 79% at the follow-up. The upper ankle-joint angle and the base angle also demonstrated significant changes. Normalized compound action potentials of the medial heads of the gastrocnemius were reduced by 70%. None of these parameters demonstrated any significant differences at the follow-up examination in comparison with the healthy control group. Variations in the displacement of the knee joint on the sagittal plane and of the center of gravity in the transverse plane did not show any significant differences in comparison with the control group. CONCLUSION: The reduction of muscle tone and lengthening of the ankle plantar flexors led to persistent increased active ankle dorsiflexion with significant long-term improvement of functional kinematic parameters. No significant difference in the gait analysis was found between the ITW group and healthy children six months after treatment.Level of Evidence: Level II - Therapeutic.

[Modified PemberSal osteotomy technique with lyophilized human allograft]. / Technik der modifizierten PemberSal-Osteotomie mit lyophilisiertem humanem Allograft.

OBJECTIVE: PemberSal osteotomy to improve femoral head coverage by rotating the acetabular roof ventrally and laterally. INDICATIONS: Insufficient coverage of the femoral head, and can be combined with other surgical procedures such as femoral intertrochanteric varus-derotation osteotomy and open reduction for developmental dysplasia and dislocation of the hip or to improve sphericity and containment in Legg-Calvé-Perthes disease. This specific acetabuloplasty can only be performed in patients with an open epiphyseal growth-plate. CONTRAINDICATIONS: Increased bleeding tendency (e.g., inherited or iatrogenic); elevated anesthetic risk such as in cerebral palsy, arthrogryposis multiplex congenital, trisomies; syndromes require explicit interdisciplinary clarification to reduce perioperative risks; infections as in other elective surgeries; diseases/deformities making postoperative spica casting impossible or impractical (e.g., deformities of spinal cord or urogenital system, hernias requiring treatment); closed epiphyseal plate requires complex three-dimensional corrections of the acetabular roof (e.g., triple/periacetabular osteotomy). SURGICAL TECHNIQUE: Osteotomy from the iliac bone to the posterior ilioischial arm of the epiphyseal growth-plate cartilage; controlled fracture of the cancellous bone without breaking the medial cortex of the iliac bone for ventrocaudal rotation of the acetabular roof. To refill and stabilize the osteotomy site, an allogenic bone-wedge is interponated and secured by a resorbable screw or kirschner wire. This method also allows more complex reconstructions of the acetabular roof, e.g., by including the pseudo-cup in a modified Rejholec technique. POSTOPERATIVE MANAGEMENT: A spica cast is applied to immobilize the hip for 6 weeks. Afterwards physiotherapy can be performed under weight-bearing as tolerated. Radiographic check-ups every 6 months.

Postneonatal mortality among normal birth weight infants in Alabama, 1980 to 1983.

To identify reasons for the racial differential in postneonatal deaths and possible intervention strategies, Alabama's linked birth-death file was used to evaluate causes of postneonatal mortality for the 1980 to 1983 cohorts of normal birth weight infants. Causes were aggregated into six categories, and cause-specific rates were compared by race and by urban-rural residence. Both total and cause-specific postneonatal mortality rates among black infants were two or more times higher than for white infants, except for congenital anomalies. The greatest differential was for infection-related deaths. Rural residence increased both the risk of postneonatal death and the magnitude of the racial differential. The risks were especially elevated for deaths due to infection and "systemic causes" (including those in the perinatal category). Only 26% of postneonatal deaths were probably not preventable, and nearly one third were clearly preventable. Potential prevention strategies include injury control, prevention of infectious diseases, and prompt treatment of infectious diseases.

Infant mortality among moderately low birth weight infants in Alabama, 1980 to 1983.

A previous study of postneonatal deaths among normal birth weight infants in Alabama indicated that rural residence increased the risk of postneonatal death, the magnitude of the excess risk in the black population, and the risk of death from preventable causes. To determine whether this pattern persisted in a group presumably at higher than usual risk of infant death, patterns of mortality among infants weighing 1500 to 2499 g at birth and born in Alabama between 1980 and 1983 were examined by race, residence, and cause of death. Neonatal and infant mortality rates were higher for black infants; postneonatal mortality rates were higher for black infants. Neonatal mortality was highest for white infants from the rural part of the state; post-neonatal mortality was highest for black infants from the rural part of the state. There was little variation in the proportion of preventable postneonatal deaths by race or residence (17.6% for all) but almost twice as many white deaths were not preventable as black ones (39.0 vs 21.9%). It is posited that rural residence may actually be a surrogate measure for lack of access to health services.

A descriptive study of prune belly in New York State, 1983 to 1989.

OBJECTIVE: To determine the prevalence and spectrum of prune belly in a defined population. DESIGN: Population-based descriptive study using New York State's Congenital Malformations Registry. SETTING: The Congenital Malformations Registry is a statewide registry of children diagnosed as having congenital anomalies before the age of 2 years. PATIENTS: Infants with the diagnosis of prune-belly syndrome born during the years 1983 to 1989 to women who were New York State residents and verified by medical record review. MAIN OUTCOME MEASURES: The live birth prevalence of prune belly for the total population and for population subgroups, such as race, sex, plurality, and maternal age. The occurrence of other malformations with prune belly. RESULTS: Sixty cases of prune belly were ascertained (50 male and 10 female). The live birth prevalence was 3.2 per 100,000 and declined over the time period. The prevalence was higher in males, 5.1 per 100,000, than females, 1.1; and higher in blacks, 5.8, than whites, 2.6. The live birth prevalence of prune belly in twins, 12.2 per 100,000, was four times higher than that found in singletons, 3.0. More than 36 (60%) of patients died, most in the first week. Forty-two (70%) of patients had one of the commonly described associated defects; pulmonary hypoplasia was the most common. Almost one third of patients had defects other than those typically associated with prune belly. CONCLUSIONS: Twins, blacks, and children born to younger mothers appear to be at higher risk. Mortality remains high, especially early with many deaths due to pulmonary hypoplasia. Further studies should include stillborns and terminated pregnancies.

The epidemiology of infantile hypertrophic pyloric stenosis in New York State, 1983 to 1990.

OBJECTIVES: To investigate an apparent decline in the rate of infantile hypertrophic pyloric stenosis (IHPS) and to examine the characteristics of children with IHPS and any associated malformations. DESIGN: Cohort study in which children with IHPS were compared with the population of live births. Trends of IHPS were compared in two data sets: a population-based birth defects registry and hospital discharge data. PARTICIPANTS: Children with IHPS identified from a birth defects registry and the population of live-born infants born to residents of New York State from 1983 to 1990. MAIN OUTCOME MEASURE: Trends in the incidence of IHPS in the two data sets, and demographic characteristics and malformations associated with IHPS. RESULTS: The rate of IHPS declined from 2.4 per 1000 live births in 1984 to 1.7 in 1990. White race and male gender were associated with a higher occurrence of IHPS; high birth order, older maternal age, higher maternal education, and low birth weight were associated with lower occurrence. Seven percent of children with IHPS had a major malformation compared with 3.7% of the general population. Three major malformations occurred more frequently in children with IHPS: intestinal malrotation, obstructive defects of the urinary tract, and esophageal atresia. Fewer cases were found in the birth defects registry than in the hospital discharge data. CONCLUSIONS: Underreporting of IHPS to the birth defects registry accounts for some of the decline. Children with IHPS have more major malformations than the general population, although some of the excess could be attributed to increased detection. Further investigation is needed into the environmental factors, especially socioeconomic, associated with IHPS.

An evaluation of congenital malformations surveillance in New York State: an application of Centers for Disease Control and Prevention (CDC) guidelines for evaluating surveillance systems.

Established in 1982, the New York State Congenital Malformations Registry (NYCMR) is one of the largest statewide, population-based birth defects registries in the nation. In this article, we evaluate the surveillance of congenital malformations in New York State using the Centers for Disease Control and Prevention (CDC) guidelines for evaluating public health surveillance systems. In addition to the evaluation of selected qualitative and quantitative system attributes, we assess the public health significance and usefulness of the surveillance system and how well it is meeting its stated objectives. The NYCMR uses passive case ascertainment, relying on reports from hospitals and physicians. A congenital malformation is defined as any structural, functional, or biochemical abnormality determined genetically or induced during gestation and not due to birthing events. In addition to being the primary source of congenital malformations surveillance data in New York State, the NYCMR also provides cases for traditional epidemiological studies to determine risk factors for specific congenital malformations. The NYCMR has been working to meet its stated objectives while striving to improve its qualitative and quantitative attributes. Registry personnel have implemented several measures designed to enhance the simplicity of the data collection and data entry processes, as well as to maintain the acceptability of the surveillance system to the reporting sources. Because it is a statewide, population-based surveillance system, by far the strongest quantitative attribute of the NYCMR is representativeness. The sensitivity of the NYCMR is difficult to evaluate. Available estimates suggest, however, that the NYCMR identifies a large proportion of children born with congenital malformations in New York State and diagnosed from birth through two years of life. Finally, the NYCMR has in recent years been able to publish and disseminate annual reports describing the distribution of specific malformations in New York State on a timely basis.

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

OBJECTIVE: The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS: Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS: Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS: Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury.

The National Birth Defects Prevention Study.

The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.