Malformations Of Musculoskeletal System Research Articles

Screening for musculoskeletal system malformations and birth injuries in newborns: Results of a screening program in two hospitals in Shenzen, China.

ABSTRACTImportanceThere are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long‐term functional issues if not managed appropriately. There is no systematic and well‐established screening program for neonatal musculoskeletal malformations and injuries in China now.ObjectiveTo report the incidence and types of congenital musculoskeletal malformations in two hospitals in Shenzhen City, to explore and discuss the details of the screening procedure and improve future prevention and treatment.MethodsFrom October 2013 to May 2014, 2564 one‐day‐old newborns were screened by a pediatric orthopedic physical examination, in combination with ultrasonography when required, and the incidence and variety of diseases were recorded statistically.ResultsAmong 2564 screened newborns, the following musculoskeletal conditions were identified: congenital muscular torticollis (CMT) (seven cases, 0.27%), hip subluxation (four cases, 0.16%), hip dysplasia (47 cases, 1.83%), congenital talipes equinovarus (CTEV) (two cases, 0.08%), congenital talipes calcaneovalgus (15 cases, 0.58%), polydactyly (nine cases, 0.35%), syndactyly (one case, 0.04%), and spinal hemivertebra (one case, 0.04%). Additionally, there were five (0.19%) neonates with birth injuries.InterpretationIt is feasible to carry out neonatal screening and identification of musculoskeletal malformations and birth injuries in China. This is helpful as timely detection and early intervention for many of these conditions can avoid permanent functional impairment in these children.

Association of parental prepregnancy BMI with neonatal outcomes and birth defect in fresh embryo transfer cycles: a retrospective cohort study

BackgroundParental body mass index (BMI) is associated with pregnancy outcomes. But the effect of parental prepregnancy BMI on offspring conceived via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), especially the birth defect, remains to be determined. This study aimed to investigate the associations of parental prepregnancy BMI with neonatal outcomes and birth defect in fresh embryo transfer cycles.MethodsWe conducted a retrospective cohort study including 5741 couples in their first fresh IVF/ICSI cycles admitted to Women’s Hospital, School of Medicine, Zhejiang University from January 2013 to July 2016. The primary outcome was birth defects, which was classified according to the International Classification of Diseases, 10th Revision. Secondary outcomes included preterm delivery rate, infant gender, birth weight, small-for-gestational age (SGA) and large-for-gestational age (LGA). Multilevel regression analyses were used to assess the associations of parental prepregnancy BMI with neonatal outcomes and birth defect.ResultsIn singletons, couples with prepregnancy BMI ≥25 kg/m2 had higher odds of LGA than those with BMI < 25 kg/m2. The birth defect rate was significantly higher when paternal prepregnancy BMI ≥25 kg/m2 in IVF cycles (aOR 1.82, 95% CI 1.06–3.10) and maternal BMI ≥25 kg/m2 in ICSI cycles (aOR 4.89, 95% CI 1.45–16.53). For subcategories of birth defects, only the odds of congenital malformations of musculoskeletal system was significantly increased in IVF offspring with paternal BMI ≥25 kg/m2 (aOR 4.55, 95% CI 1.32–15.71). For twins, there was no significant difference among four groups, except for the lower birth weight of IVF female infants.ConclusionsParental prepregnancy BMI ≥25 kg/m2 is associated with higher incidence of LGA in IVF/ICSI singletons. Paternal prepregnancy BMI ≥25 kg/m2 was likely to have higher risk of birth defect in IVF offspring than those with BMI < 25 kg/m2, particularly in the musculoskeletal system. It is essential for overweight or obesity couples to lose weight before IVF/ICSI treatments.

Birth defects surveillance after assisted reproductive technology in Beijing: a whole of population-based cohort study

ObjectivesTo compare the differences in the prevalence of birth defects among offspring conceived by assisted reproductive technology (ART) and conceived spontaneously (non-ART), and assess the contribution of ART to birth...

RESULTS OF THE MONITORING OF CONGENITAL MALFORMATIONS IN CHILDREN IN THE ROSTOV REGION

The improvement and unification of information and analytical technology is one of the priorities, the solution of which will improve the effectiveness of the system of socio-hygienic monitoring. Epidemiological characteristics of congenital malformations (rate, structure, dynamics, and territorial distribution) are particularly informative biological indices of medico-demographic problems in areas with the high technogenic load. The main data sources for epidemiological studies of congenital anomalies are currently monitoring registers of congenital malformations. The article presents data on congenital malformations in the Rostov region of the Russian Federation on the results of monitoring for 2006-2016. With the use of the common regional database of personified accounting and statistical reporting forms there were executed both the analysis of the rate, structure, dynamics, medium-term forecasting of congenital malformations and the assessment of the real risk. The average annual index of the rate of congenital malformations of the compulsory registration (form 21) for newborns and children of the first year of life for the period of 2009-2016 is 6.84 per 1,000 births. The largest contribution into the structure of congenital malformations is shown to be made by malformations of musculoskeletal system (20.82 %), genital system (19.62 %) and circulatory system (19.39 %). The positive trend of dynamics of congenital malformations for the last two years of the studied period is revealed. At extrapolation in the medium term it is possible to expect an annual gain of congenital malformations. Birth defects in children are confirmed to be one of the valuable indices of the environmental impact on the health of the population of the Rostov region. Thus, it was determined by peculiarities of formation of congenital malformations in the Rostov region, which are the basis for the development of regional oriented prevention programs.

Use of antibiotics during pregnancy and the risk of major congenital malformations: a population based cohort study.

Few studies have investigated the link between individual antibiotics and major congenital malformations (MCMs) including specific malformations owing to small sample size. We aimed to quantify the association between exposure to gestational antibiotic and the risk of MCMs. Using the Quebec pregnancy cohort (1998-2008), we included a total of 139 938 liveborn singleton alive whose mothers were covered by the "Régie de l'assurance maladie du Québec" drug plan for at least 12 months before and during pregnancy. Antibiotic exposure was assessed in the first trimester and MCMs were identified within the first year of life. After adjusting for potential confounders, clindamycin exposure was associated with an increased risk of MCMs (aOR 1.34, 95% CI 1.02-1.77, 60 exposed cases), musculoskeletal system malformations (aOR 1.67, 95% CI 1.12-2.48, 29 exposed cases) and ventricular/atrial septal defect (aOR 1.81, 95% CI 1.04-3.16, 13 exposed cases). Doxycycline exposure increased the risk of circulatory system malformation, cardiac malformations and ventricular/atrial septal defect (aOR 2.38, 95% CI 1.21-4.67, 9 exposed cases; aOR 2.46, 95% CI 1.21-4.99, 8 exposed cases; aOR 3.19, 95% CI 1.57-6.48, 8 exposed cases, respectively). Additional associations were seen with quinolone (1 defect), moxifloxacin (1 defect), ofloxacin (1 defect), macrolide (1 defect), erythromycin (1 defect) and phenoxymethylpenicillin (1 defect). No link was observed with amoxicillin, cephalosporins and nitrofurantoin. Similar results were found when penicillins were used as the comparator group. Clindamycin, doxycycline, quinolones, macrolides and phenoxymethylpenicillin in utero exposure were linked to organ-specific malformations. Amoxicillin, cephalosporins and nitrofurantoin were not associated with MCMs.

Congenital Abnormalities (developmental defects) and Musculoskeletal System Deformities in Children

Data of RF Health Ministry official statistics, Federal Genetic Register and Congenital Defects Monitoring Center, and St. Petersburg Diagnostic (Medical Genetic) Center were analyzed. It is stated that within XVII Class of ICD-10 “Congenital abnormalities (developmental defects), deformities and chromosomal disorders” congenital malformations (developmental defects) and musculoskeletal system (MSS) deformities make up 20 - 22% and handicapped children account for 25 - 28%. The rate of MSS abnormalities diagnosed in maternity hospitals is 4.0 - 4.4 per 1000 of newborns. Rate and structure of MSS malformations in newborns and handicapped children was studied and compared. The number of handicapped children with various forms of MSS congenital developmental defects changes with age that reflects both progression of disease and deformity relapse as well as treatment efficacy. Rate indices and data on the structures of various forms of congenital developmental defects may be used for disability prognostication when planning the requirements in treatment and rehabilitation.

Congenital Abnormalities (developmental defects) and Musculoskeletal System Deformities in Children

Data of RF Health Ministry official statistics, Federal Genetic Register and Congenital Defects Monitoring Center, and St. Petersburg Diagnostic (Medical Genetic) Center were analyzed. It is stated that within XVII Class of ICD-10 “Congenital abnormalities (developmental defects), deformities and chromosomal disorders” congenital malformations (developmental defects) and musculoskeletal system (MSS) deformities make up 20 - 22% and handicapped children account for 25 - 28%. The rate of MSS abnormalities diagnosed in maternity hospitals is 4.0 - 4.4 per 1000 of newborns. Rate and structure of MSS malformations in newborns and handicapped children was studied and compared. The number of handicapped children with various forms of MSS congenital developmental defects changes with age that reflects both progression of disease and deformity relapse as well as treatment efficacy. Rate indices and data on the structures of various forms of congenital developmental defects may be used for disability prognostication when planning the requirements in treatment and rehabilitation.

Evaluation of fetal autopsy findings in the hatay region: 274 cases

The aim of this study was to present the incidence of fetal anomalies in our region of Hatay, Turkey in order to determine the efficiency of prenatal diagnosis through fetal autopsy, and to compare our statistical data with other national and international studies. This study was conducted on 274 fetuses from terminated pregnancies due to abnormal prenatal findings and intrauterine deaths from 2005 to September 2010. Fetuses were evaluated through postmortem examination, external measurements, X-rays, Magnetic Resonance Images, Multislice Computerized Tomography and photographs. The autopsy was completed by the histological examination of each organ. Autopsy was conducted on 274 fetuses. A fetal anomaly was detected in 160 (58.39%) cases. The central nervous system contained the most frequent structural defects (79 cases, 49.38%), followed by malformations in the musculoskeletal system in 36 cases (22.5%). The most frequent multiple system anomalies were central nervous system defect and bilateral adrenal agenesis, musculoskeletal system malformations and urinary system defects. Fetal autopsy provided additional findings in 43 cases (26.88%). Fetal autopsy is a very important procedure and an integral part of the general prenatal management. New findings through this method may suggest invaluable data for parents about potential risks in future pregnancies.

SP6-63 Analysis of newborn mortality due to congenital anomalies associated with perinatal period risk factors

BackgroundCongenital anomalies play a significant role in perinatal mortality. Congenital anomalies are a cause of death in a third of all babies that die in the first year of life...

Congenital malformations among newborns in Kenya

Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional survey adopted the quasi-experimental study design to investigate a total of 7,355 consecutive births at the maternity unit ofKenyatta National Referral Hospital over a period of uninterrupted 12 months beginning 8th September to 7th September of the following year. Data collection involved clinical examination of the malformed newborns for final diagnosis using a standard proforma. The study included a control group of new born babies selected systematically among babies who were born during the same study period but had no recognizable defects at birth (n=210). These included normal babies delivered immediately after the malformed newborns. The experimental group comprised the malformed babies (n=207). Mothers were also interviewed for demographicinformation and data on life style and behavioral risk factors. In this paper only the results of the experimental group are described. A total of 207 malformations were documented. Results showed overall incidence of externally discernible malformations of 28.1 per 1000 total births (28.1/1000). The incidence of major malformations was 15/1000 births. Malformations of musculoskeletal system were the most frequently observed, accounting for 33.9% of all the major malformations,followed by malformations of the central nervous system (28.6%). Polydactyl was the most common single malformation with an incidence of 10/1000 total births. Neural tube defects (with an overall incidence of 4.6/1000 births) and chromosomal disorders were also common. On the overall, congenital malformations occurred in proportions that were comparable to other findings in Africa and other parts of the world. Thesefindings highlight the need for stepping up nutritional prevention efforts, for instance, folic acid supplements; strengthening surveillance to monitor trends; and the establishment of a genetic centre in Kenya in order to strengthen local capacity for chromosomal studies, prenatal diagnosis, and genetic counseling on these complex issues.

Evaluation of 2407 fetuses in a Turkish population

Congenital anomalies and intrauterine fetal death (IUFD) are frequent problems in pregnancies. Detection of the etiology is important for genetic counseling, and presenting the geographic distribution of the causes of disorders is necessary for a national policy on precautions. Here, we report the findings of terminated fetuses due to IUFD and congenital anomalies in Turkish population. Physical examinations of fetuses and genetic evaluations of families were done. X-ray studies and autopsy were done in the event of necessity. Findings of these studies were combined with prenatal ultrasound results. All cases were classified according to ICD-10. The number of fetuses examined was 2407. Out of these, 1268 fetuses had congenital anomalies. Neurologic anomalies and musculoskeletal system malformations were the most frequent disorders. Specific diagnoses were possible in 64% of all multiple malformation syndromes. Abnormal findings were detected in 18.8% of IUFD fetuses. Nine percent had congenital anomalies and 5.2% had cord complications. The percentage of twins and triplets was 7.5% and 13% of them had anomalies. Postmortem evaluation is useful to detect findings necessary for genetic counseling. Our protocol is effective especially in fetuses with congenital anomalies but it can detect only some of the fetal reasons in IUFD cases. A more detailed protocol is needed to investigate IUFD cases.

Perinatal outcome of obvious congenital malformation as seen at the Lagos University Teaching Hospital, Nigeria.

A retrospective review of major congenital malformations in 353 newborns delivered at the Lagos University Teaching Hospital during a 10-year period, (1981-1990) has revealed an overall incidence of 15.8 per 1000 total births, while the contribution of such malformations to perinatal mortality was 11.9 per cent. Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest cause of death among the malformed neonates. The pattern and incidence of congenital malformations at the hospital would appear to have remained substantially unchanged in the last three decades. Nigerian Journal of Paediatrics 2001; 28: 73. pp. 73-77

THE INCIDENCE OF CONGENITAL MALFORMATIONS: A STUDY OF 5,964 PREGNANCIES

I. The plan is described of a prospective study of the outcome of 5,964 pregnancies, with special emphasis on the relationship of factors in fetal environment to the incidence of abortions, stillbirths, neonatal mortality and congenital malformations. II. Data are presented on the overall incidence of congenital malformations according to sex, race, weight at delivery, maternal age and order of birth. A. The incidence of congenital malformations among 5,739 products of conception weighing over 500 grams was 7.5%. The rate was 7.0% among infants born alive and surviving the neonatal period, 13.6% among antepartum deaths, 23.3% among intrapartum deaths, 29.6% among neonatal deaths and 70.6% among deaths occurring between the ages of one and 12 months. B. The following relationships in incidence rates among live-born infants surviving the neonatal period were found. 1. The rate among males (8.4%) was half again as high as among females (5.5%). 2. Non-white infants had a higher rate (7.8%) than white infants (6.3%). 3. Infants weighing 2,500 grams or less had a higher proportion with defects (9.7%) than did those weighing over 2,500 grams (6.7%), although this difference occurred entirely among females. 4. Maternal age had no effect on the incidence of congenital malformations. 5. White infants of lower birth order had a lower rate (5.3%) than did those of higher birth orders (8.2%). No difference according to birth order was observed among non-white infants. III. A system of classification of malformations is described and discussed. Incidence rates by organ system groups are presented. A. Less than one-half of the malformations found among live-born infants were suspected or noted at birth. B. Malformations of musculo-skeletal system and skin were more frequent than malformations of other systems. Incidence rates by organ system groups are directly related to problems of diagnosis. C. Of the malformed live-born infants, 14.8% had more than one malformation and in 9.1% more than one system was involved. Of the malformed stillbirths and neonatal deaths, 66.0% had more than one malformation and in 51.1% more than one system was involved.