OBJECTIVES: Congenital birth defects are the main source of disease burden among children under 5 years old in China. This study aims to compare the trends in disease burden of different congenital birth defects among Chinese children under 5 years old from 1990 to 2019, and to provide a scientific basis for strengthening the comprehensive prevention and control of birth defects. METHODS: Based on data from the Global Burden Disease (GBD) in 2019, the incidence mortality rate, and disability-adjusted life years (DALYs) rate of congenital birth defects among Chinese children under 5 years old from 1990 to 2019 were selected as evaluation indicators. The Joinpoint regression model was used to analyze the trends in disease burden of different types with congenital birth defects over three decades. The study also compared the differences in disease burden of congenital birth defects among children under 5 years old by gender. RESULTS: Compared to 1990, the DALYs rates of congenital heart anomalies (1 931.91/100 000), digestive congenital anomalies (364.63/100 000), neural tube defects (277.20/100 000), congenital musculoskeletal and limb anomalies (133.33/100 000), and Down syndrome (128.22/100 000) in children under 5 years old in China in 2019 were decreased 70.78%, 71.61%, 86.21%, 36.84% and 73.65%, respectively. From 1990 to 2019, the mortality rates and DALYs rates of different congenital birth defects showed an overall downward trend, but the incidence of digestive congenital anomalies and Down syndrome showed an upward trend after 2005 and 2001, respectively. Except for congenital musculoskeletal and limb anomalies, incidence of the remaining categories of birth defects were higher in boys than that in girls. CONCLUSIONS The disease burden of congenital birth defects in children under 5 years old in China is decreased substantially from 1990 to 2019, but the burden of congenital heart anomalies is still serious and the incidence of some birth defect diseases is on the rise, and it is still crucial to strengthen the prevention and treatment for birth defects in children and propose targeted measures according to their gender characteristics.
Child, Preschool ; Female ; Humans ; Male ; China/epidemiology* ; Cost of Illness ; Down Syndrome/epidemiology* ; East Asian People ; Congenital Abnormalities/epidemiology*

Correction of the overall coronal and/or sagittal plane deformities is one of the main predictors of successful spinal surgery. In routine clinical practice, spinal alignment is assessed using several spinal and pelvic parameters, such as pelvic incidence and tilt, sacral slope, lumbar lordosis, thoracic kyphosis, and sagittal vertical axis. Standard values have been defined for all these parameters, and the formulas of correction have been set for determining the surgical strategy. However, several factors can potentially bias these formulas. First, all standard values are measured using conventional plain radiographs and are, therefore, prone to bias. The radiologist, measuring surgeon, and patient are possible confounding influencing factors. Second, spino-pelvic compensatory effects and biomechanically relevant structures for the patient’s posture, including ligaments, tendons, and muscles, have received minimal consideration in the literature. Therefore, even in cases of appropriately planned deformity correction surgeries, complications, revision rates, and surgical outcomes significantly vary. This study aimed to illustrate the current clinical weaknesses of the assessment of spinal alignment and the importance of holistically approaching the musculoskeletal system for any spinal deformity surgery. We believe that our detailed insights regarding spinal, sagittal, and coronal alignments as well as the considerations of an individual's spinal balance will contribute toward improvement in routine patient care.
Animals ; Bias (Epidemiology) ; Congenital Abnormalities ; Humans ; Incidence ; Kyphosis ; Ligaments ; Lordosis ; Muscles ; Musculoskeletal System ; Patient Care ; Posture ; Tendons

Bifid mandibular condyle (BMC) is an uncommon morphological variant of the mandibular condyle. Although authors have proposed various etiologies for BMC, no consensus has emerged. In addition, varying findings have been reported regarding the epidemiological parameters of BMC (e.g., prevalence, gender ratio, and age), possibly due to its low incidence. BMC is occasionally associated with symptoms of the temporomandibular joint, such as ankylosis, pain, and trismus; however, it is difficult to detect this condition on conventional radiographs. This study reports a case of BMC with radiographic findings, and reviews the literature on the epidemiology of BMC.
Anatomic Variation ; Ankylosis ; Congenital Abnormalities ; Consensus ; Epidemiology ; Incidence ; Mandibular Condyle* ; Prevalence ; Temporomandibular Joint ; Trismus

Communicable Disease Control ; Congenital Abnormalities ; virology ; Disease Outbreaks ; Ecology ; Humans ; Risk ; Singapore ; Social Medicine ; Zika Virus ; Zika Virus Infection ; epidemiology ; therapy ; transmission

ObjectiveTo investigate the pregnancy outcomes of assisted reproductive technology (ART) with cryopreserved donor sperm and the safety of the offspring thus conceived.

METHODSThe Human Sperm Bank of CITIC Xiangya Hospital provided cryopreserved donor semen to 31 reproductive centers in China between January 2006 and December 2012, with which 50247 ART cycles were accomplished. We compared the rates of birth defects and spontaneous abortion of intracervical insemination (ICI), intrauterine insemination (IUI), in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI).

RESULTSA total of 39 047 ART cycles were performed by artificial insemination with cryopreserved donor sperm, including 36 674 cycles of ICI and 2 372 cycles of IUI. Among the 8 612 clinical pregnancies achieved by ICI, there were 917 cases of spontaneous abortion (at <28 gestational wk) (10.6%) and 6133 live births, with 43 cases of birth defect (0.70%). Of the 547 clinical pregnancies achieved by IUI, there were 41 cases of spontaneous abortion (7.5%) and 426 live births, with 2 cases of birth defect (0.47%). Totally, 11 200 cycles of IVF and ICSI were accomplished with cryopreserved donor sperm. Of the 5 860 clinical pregnancies achieved by IVF, there were 456 cases of spontaneous abortion (7.8%) and 5089 live births, with 55 cases of birth defect (1.08%). Among the 350 clinical pregnancies achieved by ICSI, there were 30 cases of spontaneous abortion (8.6%) and 229 live births, with 3 cases of birth defect (1.31%). The birth defect rate of ART with cryopreserved donor sperm was significantly lower than that published by the Chinese Ministry of Health (0.86% vs 1.53%,P<0.01).

CONCLUSIONSThe safety of the offspring conceived by ART with cryopreserved donor sperm is controllable.

Abortion, Spontaneous ; epidemiology ; China ; Congenital Abnormalities ; epidemiology ; Cryopreservation ; Female ; Fertilization in Vitro ; Humans ; Insemination, Artificial ; Male ; Pregnancy ; Pregnancy Outcome ; Reproductive Techniques, Assisted ; adverse effects ; Sperm Injections, Intracytoplasmic ; Spermatozoa ; cytology ; Tissue Donors

OBJECTIVETo investigate the characteristics and incidence of the thoracic deformities in patients with microtia.

METHODSIn Plastic Surgery Hospital, we conducted a retrospective study of the clinical and radiographical data of 300 patients with microtia from March 2013 to October 2014. Pearson χ2 test was used to analyze the relationship among deformities of ribs and spine, as well as microtia.

RESULTSA total of 78 (26.0%) patients were documented with rib deformities, 26 patients (8.7%) had spinal deformities, and 17 patients (5.7% )had both. The incidence of rib deformities in microtia I, II, and III was 7.1% (2/28), 26.7% (62/232) and 35.0% (14/40) respectively. The incidence of spinal deformities in microtia I, II, and III was 3.6% (1/28), 6.5% (15/232) and 25.0% (10/40 respectively. The patients with microtia III were found to have a higher incidence of ribs and spinal deformities than those with microtia II, patients with microtia II were found to have a higher incidence of ribs and spinal deformities than those with microtia I (P < 0.05).

CONCLUSIONSThe incidence of ribs and spinal deformities is high in patients with microtia. The poorer one auricle developed, the higher the incidence of thoracic deformities.

Biomedical Research ; Congenital Microtia ; epidemiology ; Humans ; Incidence ; Retrospective Studies ; Ribs ; abnormalities ; Spine ; abnormalities

INTRODUCTIONThe objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies.

METHODSThis was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review.

RESULTSA total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification.

CONCLUSIONThe incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly.

Adolescent ; Branchial Region ; abnormalities ; Branchioma ; congenital ; epidemiology ; Child ; Child, Preschool ; Female ; Hospitals, Pediatric ; Humans ; Incidence ; Infant ; Male ; Retrospective Studies ; Singapore ; epidemiology

OBJECTIVETo investigate the survival quality of infants conceived by in vitro fertilization (IVF) and to identify the factors that cause birth defects and neonatal complications in IVF infants.

METHODSThe study included 150 IVF infants (IVF group) and 200 naturally conceived infants (control group). Indicators such as birth situation, gestational disease, birth defects, and neonatal complications were compared between groups. The influencing factors for birth defects and neonatal complications were analyzed by non-conditional logistic regression analysis.

RESULTSCompared with the control group, the IVF group had increased incidences of twin pregnancy and low birth weight (P<0.01) but decreased average birth weight (P<0.05). In the IVF group, the mother's age was elder, with higher incidence of cesarean section, premature rupture of membranes, and pregnancy complications, as compared with the control group (P<0.05). There was no significant difference in the incidence of birth defects between the two groups (P>0.05). The IVF group had higher incidence rates of low birth weight and neonatal scleroderma (P<0.05), with a longer hospital stay (P<0.01), as compared with the control group. The non-conditional logistic regression analysis indicated that IVF, prematurity, twin pregnancy, and pregnancy complications were risk factors for low birth weight (P<0.05).

CONCLUSIONSThere is no significant difference in the incidence of birth defects between IVF and naturally conceived infants. However, IVF infants have higher incidences of twin pregnancy and low birth weight, with a longer hospital stay, as compared with naturally conceived infants. Natural conceiving, avoiding prematurity, twin pregnancy, and pregnancy complications will reduce the incidence of low birth weight.

Congenital Abnormalities ; epidemiology ; Female ; Fertilization in Vitro ; adverse effects ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Logistic Models ; Male ; Pregnancy ; Pregnancy Complications ; epidemiology ; Pregnancy, Twin ; statistics & numerical data

BACKGROUNDTo investigate the surveillance trend of birth defects, incidence, distribution, occurrence regularity, and their relevant factors in Xi'an City in the last 10 years for proposing control measures.

METHODSThe birth defects monitoring data of infants during perinatal period (28 weeks of gestation to 7 days after birth) were collected from obstetrics departments of all hospitals during 2003-2012. Microsoft Excel 2003 was used for data input, and Statistical Package for the Social Sciences version 16.0 (International Business Machines Corporation, New York, NY, USA) was used for descriptive analysis. χ2 test, Spearman correlation and linear-by-linear association trend test were used for statistical analyses.

RESULTSThe birth defect rate declined from 9.18% in 2003 to 7.00% in 2012 (χ2 = 45.001, P < 0.01) with a mean value of 7.85%, which is below the Chinese national average level (χ2 = 20.451, P < 0.01). The order of five most common birth defects has changed. The incidence of congenital heart disease (CHD) increased with time, particularly after 2012, it became the most frequent type (r s = 0.808, P < 0.001). Till then, the number of neural tube defects (NTDs) declined significantly (χ2 = 76.254, P < 0.01). The average birth defects rate of 8.11% in rural areas was higher than that in urban areas (7.56%, χ2 = 7.919, P < 0.01) and much higher in males (8.28%) than that in females (7.18%, χ2 = 32.397, P < 0.01). Maternal age older than 35 years (χ2 = 35.298, P < 0.01) is the most dangerous age bracket of birth defects than maternal age younger than 20 years (χ2 = 7.128, P < 0.01).

CONCLUSIONSA downward trend of birth defects was observed in Xi'an City from 2003 to 2012. NTDs significantly decreased after large-scale supplemental folic acid intervention, while the incidence rate of CHD significantly increased.

Congenital Abnormalities ; epidemiology ; Data Collection ; Female ; Humans ; Infant, Newborn ; Neural Tube Defects ; epidemiology ; Pregnancy ; Quality Control ; Vital Statistics

OBJECTIVETo compare the maternal and perinatal outcomes of twin pregnancies conceived by in vitro fertilization (IVF) with outcomes of spontaneous twin pregnancies.

METHODSA retrospective analysis was conducted between January 2010 and April 2014 to investigate the maternal age, gestation length, modes of delivery, pregnancy complications and neonatal physical development, birth defects and perinatal diseases in 106 IVF-assisted twin pregnancies (IVF group) and 256 spontaneous twin pregnancies (control group).

RESULTSThe mothers in the IVF group were significantly older than those in the control group (32±4 years vs 28±4 years, P<0.05). The incidence rates of gestational hypertension and gestational diabetes in the IVF group were significantly higher than in the control group (P<0.05). No significant differences were observed for neonatal physical development, the incidence of birth defects, and the incidence and mortality of perinatal diseases (P>0.05).

CONCLUSIONSTwins conceived by IVF have similar outcomes as spontaneously conceived twins in the perinatal period. However, special attention is needed to monitor the levels of blood pressure and blood glucose for pregnant women with twins conceived by IVF during prenatal checkups.

Adult ; Birth Weight ; Congenital Abnormalities ; epidemiology ; Diabetes, Gestational ; epidemiology ; Female ; Fertilization in Vitro ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; epidemiology ; mortality ; Male ; Pregnancy ; Pregnancy, Twin ; Retrospective Studies