Association Of Congenital Anomalies Research Articles

Association of Congenital Anomalies in Newborns with Maternal and Fetal Factors in North Gujarat Region, India: A Cross-Sectional Analytical Study

Background: Approximately 8 to 15% of perinatal deaths and 13 to 16% of neonatal deaths in India are a result of congenital anomalies. The objective of the research was to study incidence of clinically detectable congenital malformations in newborns delivered at secondary and tertiary hospitals and their association with maternal and fetal factors. Material and methods: This study include all new-borns delivered at secondary and tertiary care hospitals in the Mehsana districts of Gujarat, India from January 1st, 2021 to December 31st, 2021. A total of 6900 consecutive births were examined for visible structural anomalies to determine the overall incidence and distribution of congenital malformations and their association with feto-maternal factors. Results: Total numbers of malformed babies were 90 with incidence of 1.30%. Incidence of malformed babies was 1.54% among mother in the age group of 21-35 years, 3.57% among mother with consanguineous marriage, and 6.67.% among mothers with severe anemia. The incidence was 0.97% in babies <1500 birth weight, 0.97% among live births and 12.5% among preterm babies. Conclusion: Congenital anomalies in newborns are significantly associated with maternal factors like maternal age, consanguinity, previous child with malformation, history of previous abortion and severe anemia and fetal factors such as stillbirth, premature babies, and low birth weight.

Association of Birth Defects With Child Mortality Before Age 14 Years

Causes of death in children with birth defects are poorly understood. To determine mortality rates by cause of death in children with and without birth defects. This longitudinal cohort study included a population-based sample of 1 037 688 children and was conducted in all hospitals in Quebec, Canada, with 7 700 596 person-years of follow-up between birth and age 14 years (April 1, 2006, to March 31, 2020). Presence or absence of a birth defect. Outcomes were all-cause and cause-specific mortality. Hazard ratios (HRs) and 95% CIs were computed for the association between birth defects and mortality with Cox proportional hazards models adjusted for patient characteristics. Among the 1 037 688 children in the cohort, 95 566 had birth defects (56.5% boys). There were 532 542 boys in the cohort (51.3%), and mean (SD) age at the end of follow-up was 7.42 (3.72) years. There were 918 deaths among children with defects, and the mean (SD) age was 0.93 (2.07) years at death; there were 1082 deaths among the 942 122 children without defects, and the mean (SD) age at death was 0.50 (1.51) years. Mortality rates were higher for children with birth defects compared with no defect (1.3 vs 0.2 deaths per 1000 person-years, respectively). Girls (HR, 5.66; 95% CI, 4.96-6.47) and boys (HR, 4.69; 95% CI, 4.15-5.29) with birth defects had an elevated risk of death before 14 years compared with unaffected children. Birth defects were associated with mortality from circulatory (HR, 26.59; 95% CI, 17.73-39.87), respiratory (HR, 23.03; 95% CI, 15.09-35.14), and digestive causes (HR, 31.77; 95% CI, 11.87-85.04), but anomalies were rarely listed as the cause of death. Compared with children with no defect, those with birth defects were at greatest risk of death between 28 and 364 days of life. This cohort study of 1 037 688 children suggests that birth defects were strongly associated with mortality owing to circulatory, respiratory, and digestive causes. This finding suggests that the contribution of birth defects may be underestimated in mortality statistics.

ASSOCIATION OF CONGENITAL ANOMALIES IN LIVE BIRTHS WITH THEIR OBSTETRIC-NEONATAL AND SOCIODEMOGRAPHIC PROFILES

ABSTRACT Objective: to identify the association of congenital anomalies in live births with the obstetric-neonatal and sociodemographic profile. Methods: an ecological study, conducted in 2019, with 251,444 live births, identified through the database of the Live Birth Information System of the Minas Gerais Health Secretariat. Descriptive statistics and binary logistic regression were adopted for the analysis. Results: 1,865 cases of anomalies (0.7%) were found, with predominance of deformity of the musculoskeletal system in 789 (42.3%) live births. The variables that presented a significant association with congenital anomalies were single mothers, age ≥35 years old, inadequately performed prenatal care initiated in the third trimester of pregnancy, double (or more) pregnancy, preterm births, cesarean delivery, fetal breech presentation, exclusive assistance by the medical professional during delivery, newborn with high-risk 5-minute Apgar score, low birth weight, and male gender. Conclusion: in 2019, the congenital malformations in the state of Minas Gerais were associated with single women, aged ≥35 years old, who underwent inadequate and late prenatal care, and with double or more pregnancies. In relation to the newborns, the malformations were associated with a high risk for late sequelae, weight between ≤1,000 g and <2.500 g, and male gender.

Adverse Birth Outcomes Among Offspring Born to Women Diagnosed With Cancer: A Population-Based Cohort Study

Background: The prevalence of maternal cancer and its influence on adverse birth outcomes (ABOs) are important for prenatal care and oncological management. The incidence and cancer types before, during, and after pregnancy, and the association between cancers and ABOs were assessed. Methods: Birth registry and cancer registry data were linked, and 16,475 children born to mothers with a cancer diagnosis were identified. Multiple logistic regression was used to estimate the ABOs risks according to the diagnosis period and cancer types. Findings: The incidence of pregnancy-associated cancer was 1.3/1000 pregnancies, with thyroid (46%), cervical (14%), and breast cancers (8%) being the commonest. Increased risks of preterm birth (Odds ratios [OR]=1·82, 95% CI:1·51–2·19) and low birth weight (LBW, OR=1·90, 95%CI: 1·51–2·19) were associated with cancer diagnosed in middle and late pregnancy. Increased risks of birth defects (OR=2·44, 95% CI: 1·00–5·92) were associated with cancer diagnosed in the first trimester. There was a positive association of birth defects and preterm birth with pregnancy-associated(OR=1·79, 95% CI: 1·01–3·17) and pre-gestational (OR=1.31, 95% CI: 1·07–1·61) thyroid cancer, respectively. Interpretation: The increased risk of prenatal cancer-associated preterm birth and LBW was mainly due to iatrogenic preterm delivery. The higher incidence of thyroid cancer and the associated increased risk of birth defects and preterm birth suggest more attention should be paid to prudent therapy and thyroid function monitoring during pregnancy. Funding: National Natural Science Foundation of China (82003486) and the Fifth Round of Three-Year Public Health Action Plan of Shanghai, China (GWV-10.1-XK08). Declaration of Interest: The authors declare that they have no competing interests. Ethical Approval: This study was approved by the Ethics Review Committee of the Shanghai Municipal Center for Disease Control and Prevention.

Association of congenital anomalies of the kidney and urinary tract with those of other organ systems: Clinical implications

Association of congenital anomalies of the kidney and urinary tract with those of other organ systems: Clinical implications

VACTERL-H SYNDROME – A CASE REPORT

The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. VACTERL association is an association of birth defects that affects multiple parts of the body. It includes vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal.
 The diagnosis of VACTERL-H Syndrome is majorly based upon the complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often varies greatly. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive. Hence early diagnosis and early interventions are needed to prevent morbidity and mortality.
 Key words: VACTERL-H syndrome, congenital malformations, clinical examinations

Prevalence and Association of Congenital Anomalies According to the Maternal Body Mass Index: Cross-Sectional Study

To evaluate and compare the prevalence of structural congenital anomalies (CAs) according to maternal body mass index (BMI). The present cross-sectional study involved pregnant women with fetuses diagnosed with structural CAs through morphological ultrasonography between November 2014 and January 2016. The nutritional status of the pregnant women was classified according to the gross value of the body mass index. The pregnant women were categorized into four groups: low weight, adequate weight, overweight, and obesity. Statistical analysis was performed using Stata/SE version 12.0 (Stata Corporation, College Station, TX), with values of p ≤ 0.05 considered statistically significant. A total of 223 pregnant women had fetuses diagnosed with CAs. The prevalence of structural CAs in pregnant women with low weight was of 20.18%, of 43.50% in pregnant women with adequate weight, of 22.87% in pregnant women with overweight, and of 13.45% in pregnant women with obesity. The prevalence of central nervous system (CNS) anomalies and of genitourinary system anomalies was high for the four groups of pregnant women. A positive association was observed between multiple anomalies in pregnant women with adequate weight (prevalence ratio [PR] = 1.65; p ≤ 0.004) and between anomalies of the lymphatic system in obese pregnant women (PR = 4.04, p ≤ 0.000). The prevalence of CNS and genitourinary system anomalies was high in all of the BMI categories. Obese pregnancies were associated with lymphatic system anomalies. Therefore, screening and identification of the risk factors for CAs are important, regardless of the maternal BMI. Our findings reinforce the importance of discussing with pregnant women maternal nutrition and its effect on fetal development and on neonatal outcome.

Association of birth defects with the mode of assisted reproductive technology in a Chinese data-linkage cohort

To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. Retrospective, data-linkage cohort. Not applicable. Live births resulting from ART or natural conception. None. Birth defects coded according to ICD-10. Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI). ART was associated with a significantly increased risk of birth defects, especially, among singleton births, a significantly increased risk in fresh-embryo cycles after invitro fertilization (IVF) and frozen-embryo cycles after ICSI. Associations between ART and multiple defects, between ART and gastrointestinal malformation, genital organs malformation, and musculoskeletal malformation among singleton births, and between ART and cardiac septa malformation among multiple births were observed. This study suggests that ART increases the risk of birth defects. Subgroup analyses indicate higher risk for both fresh and frozen embryos, although nonsignificantly for frozen embryos after IVF and for fresh embryos were presented with low power. Larger sample size research is needed to clarify effects from fresh- or frozen-embryo cycles after IVF and ICSI.

Association of congenital anomalies with fracture of spine, trunk, and upper and lower limbs among young people: A population-based matched cohort study in Taiwan.

According to the Traditional Chinese Medicine (TCM) theory, congenital anomalies are caused by kidney malfunctions, which decreased the bone quality, and may eventually result in bone fractures. This retrospective cohort study investigated the relationship between congenital anomalies and fracture of spine, trunk, and upper and lower limbs in young people. We utilized data from the National Health Insurance Research Database of Taiwan. This study included patients with congenital anomalies (International Classification of Diseases/ICD-9 code: 740–759) and a comparison group of patients without congenital anomalies. Cases evaluated were fracture of spine and trunk (ICD-9 codes: 805–809), fracture of upper limbs (ICD-9 codes: 810–819), and fracture of lower limbs (ICD-9 codes: 820–829). Our study shows that in comparison to the control group, patients with congenital anomalies are 1.11 times more likely to develop fractures. This is the first documented research study that supports the TCM theory that “the Kidney governs the bones, and healthy bones give the body stabilization and prevent fracture.”

A Mixed-Method Study to Determine the Benefits of Periconceptional Folic Acid Supplementation and Effects of Folic Acid Deficiency in Mothers on Birth Outcomes.

BackgroundEvidence from high income countries shows mothers who are supplemented with folic acid in their periconceptional period and early pregnancy have significantly reduced adverse outcomes like birth defects. However, in India there is a paucity of data on association of birth defects and folic acid supplementation. We identified a few important questions to be answered using separate scientific methods and then planned to triangulate the information.ObjectiveIn this paper, we describe the protocol of our study that aims to determine the association of folic acid and pregnancy outcomes like neural tube defects (NTDs) and orofacial clefts (OFCs). We decided to fill the gaps in knowledge from India to determine public health consequences of folic acid deficiency and factors influencing dietary and periconceptional consumption of folic acid.MethodsThe proposed study will be carried out in five stages and will examine the questions related to folic acid deficiency across selected locations in South and North India. The study will be carried out over a period of 4 years through the hierarchical evidence-based approach. At first a systematic review was conducted to pool the current birth prevalence of NTDs and orofacial clefts OFCs in India. To investigate the population prevalence, we plan to use the key informant method to determine prevalence of NTDs and OFCs. To determine the normal serum estimates of folic acid, iron, and vitamin B12 among Indian women (15-35 years), we will conduct a population-based, cross-sectional study. We will further strengthen the evidence of association between OFCs and folic acid by conducting a hospital-based, case-control study across three locations of India. Lastly, using qualitative methods we will understand community and health workers perspective on factors that decide the intake of folic acid supplements.ResultsThis study will provide evidence on the community prevalence of birth defects and prevalence folic acid and vitamin B12 deficiency in the community. The case-control study will help understand the association of folic acid deficiency with OFCs.ConclusionsThe results from this study are intended to strengthen the evidence base in childhood disability for planning and policy initiatives.

Single-staged surgical approach in congenital diaphragmatic hernia associated with esophageal atresia

BackgroundThe coexistence of congenital diaphragmatic hernia (CDH) with esophageal atresia (EA) has only been reported occasionally in literature. Series of patients from a single institution with comparison of different postnatal therapeutic approaches have not been reported. We describe our management in this unique cohort of patients and discuss the procedures that can lead to successful outcomes in this association of congenital anomalies. MethodsThe surgical approaches and outcome of six neonates with CDH associated with EA and distal tracheo-esophageal fistula (TEF) are discussed. ResultsFive newborns were treated surgically, while one patient with trisomy 18 only received palliative treatment. In four patients TEF was ligated during laparotomy for CDH repair. Secondary surgery was performed for correction of EA via thoracotomy after 4–6weeks (primary anastomosis in two patients, Foker’s-technique in one patient, one patient deceased prior to secondary surgery). All three surviving patients required fundoplication due to severe gastro-esophageal reflux during the first year of life. Two patients also required dilatation for anastomotic stricture. In one preterm infant correction of both malformations was accomplished during one surgical intervention. The herniated organs were eventrated and temporarily placed into a silastic bag to allow a mediastinal shift to the left. Thus a continuous ventilation of the right lung with minimal compression and sufficient oxygenation was possible during esophageal repair via a right-sided thoracotomy and extrapleural approach. No further surgery was required so far. ConclusionsDefinitive surgical correction in newborns with CDH and EA was so far accomplished with multiple surgical interventions. Ligation of TEF via an abdominal approach with repair of CDH followed by delayed repair of EA is prone to stenosis and gastro-esophageal reflux due to loss of esophageal length. With a new combination of established surgical methods a single-staged correction of both malformations is possible. This new approach might help to preserve sufficient length of esophagus to accomplish primary anastomosis without tension and therefore avoid long-term morbidity and repetitive surgeries.

Association between prenatal exposure to antiretroviral therapy and birth defects: an analysis of the French perinatal cohort study (ANRS CO1/CO11).

Antiretroviral therapy (ART) has major benefits during pregnancy, both for maternal health and to prevent mother-to-child transmission of HIV. Safety issues, including teratogenic risk, need to be evaluated. We estimated the prevalence of birth defects in children born to HIV-infected women receiving ART during pregnancy, and assessed the independent association of birth defects with each antiretroviral (ARV) drug used. The French Perinatal Cohort prospectively enrolls HIV-infected women delivering in 90 centers throughout France. Children are followed by pediatricians until 2 y of age according to national guidelines. We included 13,124 live births between 1994 and 2010, among which, 42% (n = 5,388) were exposed to ART in the first trimester of pregnancy. Birth defects were studied using both European Surveillance of Congenital Anomalies (EUROCAT) and Metropolitan Atlanta Congenital Defects Program (MACDP) classifications; associations with ART were evaluated using univariate and multivariate logistic regressions. Correction for multiple comparisons was not performed because the analyses were based on hypotheses emanating from previous findings in the literature and the robustness of the findings of the current study. The prevalence of birth defects was 4.4% (95% CI 4.0%-4.7%), according to the EUROCAT classification. In multivariate analysis adjusting for other ARV drugs, maternal age, geographical origin, intravenous drug use, and type of maternity center, a significant association was found between exposure to zidovudine in the first trimester and congenital heart defects: 2.3% (74/3,267), adjusted odds ratio (AOR) = 2.2 (95% CI 1.3-3.7), p = 0.003, absolute risk difference attributed to zidovudine +1.2% (95% CI +0.5; +1.9%). Didanosine and indinavir were associated with head and neck defects, respectively: 0.5%, AOR = 3.4 (95% CI 1.1-10.4), p = 0.04; 0.9%, AOR = 3.8 (95% CI 1.1-13.8), p = 0.04. We found a significant association between efavirenz and neurological defects (n = 4) using the MACDP classification: AOR = 3.0 (95% CI 1.1-8.5), p = 0.04, absolute risk +0.7% (95% CI +0.07%; +1.3%). But the association was not significant using the less inclusive EUROCAT classification: AOR = 2.1 (95% CI 0.7-5.9), p = 0.16. No association was found between birth defects and lopinavir or ritonavir with a power >85% for an odds ratio of 1.5, nor for nevirapine, tenofovir, stavudine, or abacavir with a power >70%. Limitations of the present study were the absence of data on termination of pregnancy, stillbirths, tobacco and alcohol intake, and concomitant medication. We found a specific association between in utero exposure to zidovudine and heart defects; the mechanisms need to be elucidated. The association between efavirenz and neurological defects must be interpreted with caution. For the other drugs not associated with birth defects, the results were reassuring. Finally, whatever the impact that some ARV drugs may have on birth defects, it is surpassed by the major role of ART in the successful prevention of mother-to-child transmission of HIV. Please see later in the article for the Editors' Summary.

Anorectal Malformations: Finding the Pathway out of the Labyrinth

Anorectal malformations (ARMs) are a complex group of congenital anomalies involving the distal anus and rectum, as well as the urinary and genital tracts in a significant number of cases. Most ARMs result from abnormal development of the urorectal septum in early fetal life. In most cases, the anus is not perforated and the distal enteric component ends blindly (atresia) or as a fistula into the urinary tract, genital tract, or perineum. ARMs are also present in a great number of syndromes and associations of congenital anomalies. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. All of this information is crucial in determining the most appropriate surgical approach for each case. Imaging studies play a key role in evaluation and classification of ARMs. In neonates, clinical and radiologic examinations in the first 3 days of life help determine the type of ARM and the need for early colostomy. In older children, preoperative pelvic magnetic resonance imaging is the most efficient diagnostic method for evaluating the size, morphology, and grade of development of the sphincteric musculature.

VACTERL association with double-chambered left ventricle: A rare occurrence

VACTERL association is a non-random association of birth defects of unknown etiology derived from structures of embryonic mesoderm. The common cardiac defects seen with VACTERL association are ventricular septal defects, atrial septal defects, and tetralogy of Fallot. We present a 2-year-old child with VACTERL association in whom we detected double-chambered left ventricle on transthoracic echocardiography.

Functional independence of Taiwanese children with VACTERL association

VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic information to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P < 0.01). The scores were generally within the same range as those of unaffected Chinese children, although our subjects had slightly inferior scores on six items, including bowel, chair transfer, stairs, expression, social interaction, and problem solving. In conclusion, the daily functional skills of Taiwanese children with VACTERL association were similar to those of unaffected children.

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias

45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies. We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences. Our case, with an uncommon association of congenital anomalies, stresses the difficulty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect.

A Single-Center Experience with Kidney Transplantation in the Verteberal, Anal, Cardiac, Tracheoesophageal, Renal, and Limb Birth Detects (VACTERL) Association

VACTERL association is a nonrandom association of birth defects in vertebral, anal, cardiac, tracheoesophageal, renal, and limb structures. Renal anomalies are observed in ∼60%–90% of VACTERL patients. We present 3 cases to demonstrate the clinical and surgical challenges that these patients present for renal transplantation. One pediatric and 2 adult patients with the VACTERL association were transplanted at a single center; their follow-up times were 6 years, 4 years, and 3 months. Only 1 of them had a suitable native bladder to receive the kidney graft; the other 2 required bladder augmentation, 1 of which was performed after the loss of the first graft. None of these patients had an uneventful posttransplantation course. Two patients had acute rejection episodes, and 2 had reoperations for urologic complications. One patient needed a surgical intervention owing to a sigmoid prolapse. All 3 grafts worked at last examination. The 2 patients with bladder reconstructions and longer follow-ups suffered recurrent pulmonary and urinary infections and had been hospitalized several times during each posttransplantation year. In conclusion, multiorgan involvement in VACTERL patients greatly complicates medical care after transplantation; urinary tract reconstruction seems to be essential before transplantation.

Contents of heavy metals in arable soils and birth defect risks in Shanxi, China: a small area level geographic study

The burgeoning demands of China’s urbanization and industrial development put pressure on the resources of the entire country and have direct and indirect effects on the health of individuals, at times in areas far removed from cities themselves. Current evidence suggests that heavy metal pollution in soil, a common by-product of coal mining and other industrial activities, may be linked to risk of birth defects. We examine this hypothesis using small area level data including soil samples and detailed birth records from 2002 to 2004 from 97 villages in Shanxi province, a heavy coal-mining region. We find that soils containing arsenic, lead, and nickel are significantly correlated with the incidence of birth defects. In particular, we find a strong positive dose-dependent association of birth defects with lead, a moderate positive effect with arsenic, and a dose-dependent negative association with nickel. These results are consistent with the postulated link between arsenic and lead and human birth defects, but raise questions about the effects of nickel in this context. China’s rapid urbanization underscores the need for closer attention to the relationship between the health and the environment.

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association

VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 –35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority of patients, there is evidence that it is causally heterogeneous. Several studies have shown evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with component features of VACTERL and a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), were found to harbor deletions or mutations affecting FOXF1 and the FOX gene cluster on chromosome 16q24. We investigated this gene through direct sequencing and high-density SNP microarray in 12 patients with VACTERL association but without ACD/MPV. Our mutational analysis of FOXF1 showed normal sequences and no genomic imbalances affecting the FOX gene cluster on chromosome 16q24 in the studied patients. Possible explanations for these results include the etiologic and clinical heterogeneity of VACTERL association, the possibility that mutations affecting this gene may occur only in more severely affected individuals, and insufficient study sample size.

Prevalence of tethered spinal cord in infants with VACTERL

The term VACTERL represents a nonrandom association of birth defects including vertebral malformations, anal atresia, cardiac anomalies, tracheoesophageal fistulas (TEFs), renal anomalies, and limb malformations. Clinical experience and a few published case series suggest that a tethered spinal cord (TSC) occurs commonly in children with VACTERL, but to date, no study has defined the prevalence of TSC in patients with VACTERL. Such information would guide decisions about the appropriateness of screening spinal imaging. The authors reviewed the charts of all patients discharged from the neonatal intensive care unit at Children's Hospital Pittsburgh in the past 14 years with the diagnosis of VACTERL, TEF, or anal atresia. During that period, the authors' protocol has been to use spinal ultrasound to screen this population for TSC. The charts were reviewed for the presence of a TSC requiring surgery and for the features of VACTERL. Thirty-three patients with VACTERL and adequate spinal imaging studies were identified. In 13 (39%) of these, a TSC requiring surgery was identified. Among patients without VACTERL, the incidence of TSC was 7.9% in those with anal atresia and 2.4% in those with TEF. False-negative ultrasounds were identified in 21.4% of patients with TSC. Children with VACTERL should undergo MR imaging screening for TSC. In infants with anal atresia without VACTERL, the incidence of TSC is much lower than in those with VACTERL.