Browsing by Author "Kapoor, Seema"

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    Albright's hereditary osteodystrophy.
    (2006-02-04) Kapoor, Seema; Gogia, Siddhartha; Paul, Ritu; Banerjee, Sharmila
    Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.
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    Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children
    (Medip Academy, 2023-12) Uppal, Komal; Rana, Lakshay; Polipalli, Sunil Kumar; Kumar, Somesh; Jindal, Ankur; Kapoor, Seema
    Background: This study was designed to analyze and evaluate the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH).Methods: A total of 72 Children with ID/DD were evaluated by array-CGH for detection of genomic copy number variations (CNVs).Results: The results of the array-CGH revealed that 10(14%) of the 72 patients had pathogenic CNVs, in that six cases had pathogenic CNV in a single chromosome, 2 cases had multiple microdeletions and 2 cases had combined microdeletion and microduplication, 2 cases had pathogenic CNVs in chromosome 1p36 and Xq28 region. One case had variation of unknown significance in chromosome region 15q11.2. Large bands of copy neutral loss of heterozygosity were detected in 2 cases comprising more than 10% of genome.Conclusions: Array-CGH being a high-throughput and rapid tool, allows for the etiological diagnosis in some of the children with unexplained ID/DD.
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    Association Between Neonatal Thyroid Stimulating Hormone Status and Maternal Urinary Iodine Status
    (Indian Academy of Pediatrics, 2019-06) Sait, Haseena; Kapoor, Seema; Jindal, Ankur; Garg, Ritika; Belwal, Ravi Shankar; Yadav, Sangita; Gupta, Sangeeta; Thelma, BK
    Background: Maternal urinary iodine concentration (MUIC) andpercentage of neonates with Thyroid stimulating hormone (TSH)>5 mIU/L are amongst the parameters suggested for assessingadequate iodine status.Objective: To assess the correlation between MUIC andneonatal TSH levels.Study design: Cross-sectional.Settings: Tertiary care center in Delhi, India, between November2015 to November 2016.Participants: Postnatal mother-neonate dyads.Methods: TSH levels assessed among neonatal samples werestratified as below and above 5 mIU/L. MUIC was measured in544 mothers, 400 mother-neonate dyads with neonatal TSHlevels >5 mIU/L (cases) and 144 mother-neonate newbornmother dyads with neonatal TSH <5 mIU/L (controls).Results: The percentage of mothers with iodine insufficiency(9.8% vs 5.6%) as well as iodine excess (54.3% vs 41.7%) weresignificant higher in cases than controls. Mean TSH was alsohigher (P=0.0002) in both the iodine deficient and iodine excessgroup. There was no correlation between neonatal TSH valuesand MUIC.Conclusions: Lack of correlation between neonatal TSH andMUIC is due to iodine excess together with iodine deficiency.
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    Autism Spectrum Disorders and Celiac Disease: Is there an Association?
    (Indian Academy of Pediatrics, 2018-10) Juneja, Monica; Venkatakrishnan, Abhinaya; Kapoor, Seema; Jain, Rahul
    We included 150 children aged 2-12 years with Autism SpectrumDisorders and normal serum total IgA levels, and screened themfor celiac disease using anti-tissue transglutaminase IgA levels.All the children were screen negative, suggesting lack ofpositive association between Autism Spectrum Disorders andCeliac disease.
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    Aztreonam.
    (2004-04-05) Kapoor, Seema; Gathwala, Geeta
    Aztreonam belongs to the monobactam group of naturally occurring antibiotic compounds characterized by a monocycling ring structure. Aztreonam is the first monobactam that has been approved for use in pediatric medicine by US FDA in the year 1998.
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    Basic new born and antenatal screening for aspirational districts: unique methods of management and treatment of inherited disorders
    (Medip Academy, 2024-02) Uppal, Komal; Joshi, Chandrika; Polipalli, Sunil Kumar; Kumar, Somesh; Jindal, Ankur; Gupta, Sangeeta; Verma, Amar; Kapoor, Seema
    Background: Early screening, diagnosis and management program can contribute in reducing the burden of genetic disorders which can lead to early neonatal death or long-term disability in the vulnerable areas. UMMID (Unique Methods of Management and treatment of Inherited Disorders) and NIDAN (National Inherited Diseases Administration), aimed at developing a community level program for need assessment and to evaluate the feasibility of basic screening for some genetic/endocrine disorders in high-risk population.Methods: UMMID was carried out at the aspirational district Ranchi, Jharkhand for 3 years (2019-2022) to perform newborn screening (NBS) in <7 days old newborn babies for 5 metabolic disorders and to screen antenatal mothers for prevention of thalassemia and other hemoglobinopathies.Results: G6PD deficiency being more prevalent in Ranchi district out of five metabolic disorders screened. 13.6% of screen positive cases were confirmed positive for hemoglobinopathies. c.20 A>T is the most common mutation found among carriers.Conclusions: This initiative underscores the need of such screening programs in aspirational districts to manage and prevent these disorders effectively.
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    Bedside clue to bilateral partial nasal obstruction in a neonate.
    (2004-05-08) Kapoor, Seema; Mathur, N B
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    Beta-sarcoglycanopathy.
    (2005-01-03) Kapoor, Seema; Tatke, Medha; Aggarwal, Sandeep; Gupta, Ashish
    Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce. The authors report a case of primary beta-sarcoglycanopathy and describe literature pertaining to this rare entity.
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    Biodosimetric analysis of head and neck cancer patients undergoing radiotherapy by dicentric chromosome aberration assay
    (Wolters Kluwer - Medknow, 2024-01) Agarwal, Nayan; Rathi, Arun K.; Kapoor, Seema; Singh, Kishore; Arora, Savita; Jindal, Ankur; Prabhat, Kumar; Kaushik, Himanshi
    Background: Biodosimetry is the quantification of absorbed radiation dose using biological material obtained from an exposed individual. Radiation can cause different types of chromosomal aberrations, including stable aberrations like translocations and unstable ones like micronuclei, dicentric chromosomes (DC), acentric, and ring forms. Dicentric chromosome assay has become the “gold standard” for cytogenetic biodosimetry due to its reproducibility, specificity (low baseline rates), and sensitivity to low doses. Using existing calibration curves and models obtained from in vitro irradiation of blood, the yield of DCs can be used to estimate the average whole?body absorbed dose. Purpose: To evaluate and compare the in vivo dose–response relation of DC aberration formation in peripheral blood lymphocytes of head and neck cancer (HNC) patients undergoing radiotherapy (RT) alone, cisplatin?based chemoradiation (CCRT), accelerated fractionation RT (AFRT), and CCRT with gefitinib (GCRT). Methodology: This prospective observational and analytical study was conducted from 2018 to 2021 in the Department of Radiation Oncology and Genetic Lab of tertiary care, teaching hospital after approval from the Institutional Ethics Committee. Biodosimetric analysis was done weekly in patients undergoing RT (n = 20) versus CCRT (n = 20), CCRT (n = 12) versus AFRT (n = 12), and CCRT (n = 6) versus GCRT (n = 6). The yield of DCs was measured in blood samples taken before starting treatment, that is, day 0 and during RT on days 6, 11, and 16 in RT alone versus CCRT; on days 7 and 13 in CCRT versus AFRT; and days 6 and 11 in CCRT versus GCRT from a blood sample drawn 1–2 h after RT. Phytohemagglutinin?stimulated lymphocytes were cultured using heparinized blood in RPMI?1640 medium supplemented with fetal bovine serum. Cells were arrested at metaphase using demecolcine, harvested by centrifugation, mounted, and stained with Giemsa. Cytogenetic analysis was performed by analyzing at least 100 metaphases with well?spread chromosomes. DC aberrations and acentric fragments were identified and recorded. To standardize the findings as per the customized field for every patient, the mean DC yield per cm2 of the irradiated area was calculated and compared. Results: The mean yield of DC/cm2 in the CCRT group was greater than the RT alone group by 16.33%, 28.57%, and 18.68% on days 6, 11, and 16 of treatment, respectively. This difference between the two groups at day 6 (P = 0.001), day 11 (P < 0.001), and day 16 (P < 0.001) was found to be statistically significant. The mean yield of DC/cm2 in the CCRT group was greater than the AFRT group by 7.9% and 18.3% on days 7 and 13 of treatment, respectively. This difference at day 7 (P < 0.001) and day 13 (P < 0.001) was found to be statistically significant. The mean yield of DC/cm2 in the CCRT group was greater than the GCRT group by 22.7% and 21.8% on days 6 and 11 of treatment, respectively. The difference at day 6 (P = 0.01) was statistically significant but, on day 11 (P = 0.065) this difference was found insignificant. Conclusion: There is a dose?dependent increase in the yield of DCs in lymphocytes of HNC patients undergoing RT with subsequent fractions. Cisplatin?based chemoradiation is the superior method of treatment intensification radio?biologically proven by higher DC yield.
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    Branchio-oculo-facial syndrome with valvular pulmonic stenosis.
    (2004-11-14) Kapoor, Seema; Kapur, Nitin
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    Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India
    (Indian Academy of Pediatrics, 2019-03) Sachdeva, Anupam; Jain, Prachi; Gunasekaran, Vinod; Mahay, Sunita Bijarnia; Mukherjee, Sharmila; Hagerman, Randi; Shankar, Suma; Kapoor, Seema; Kedia, Shalini N
    Justification:Fragile X Syndrome (FXS) is the most common genetic cause of inherited intellectual disability and autism spectrumdisorder (ASD). Early identification results in appropriate management and improvement in functioning. Risk assessment in other familymembers can lead to prevention of the disorder. This necessitated the formulation of IAP recommendations for the diagnosis andmanagement of FXS in Indian children and adolescents.Process:The meeting on formulation of national consensus guidelines on Fragile X syndrome was organized by the Indian Academy ofPediatrics in New Delhi on 25th February, 2017. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists,Pediatric Neurologists, Gynecologists, Geneticists, Clinical Psychologists and Remedial Educators, and representatives of ParentOrganizations. Guidelines were framed after extensive discussions. A writing committee was formed that drafted the manuscript,which was circulated among members for critical appraisal, and finalized.Recommendations: The committee recommended that early diagnosis of FXS is crucial for early, timely and appropriatemanagement. The interventions including timely occupational therapy, speech therapy and behavioral modifications help to improve thedevelopmental potential and reduce the maladaptive behavior. Pharmacotherapy may be needed to control and improve behavioralsymptoms. In addition, the emergence of targeted treatments such as low dose sertraline, metformin and /or minocycline may also behelpful for behavior, and perhaps cognition. Genetic counselling is helpful to communicate the risk for future children with FXS orpermutation involvement.
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    Delayed Presentation of Rickets in a Child with Labyrinthine Aplasia, Microtia and Microdontia (LAMM) Syndrome.
    (2014-11) Singh, Ankur; Tekin, Mustafa; Falcone, Michelle; Kapoor, Seema
    Background: Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. Case characteristics: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. Observation: Homozygous novel missense mutation in fibroblast growth factor 3. Message: LAMM syndrome and hypophosphatemic rickets may be associated.
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    Detecting protein losing enteropathy by Tc-99m dextran scintigraphy: a novel experience.
    (2002-09-08) Kapoor, Seema; Ratan, Simmi K; Kashyap, Ravi; Mittal, S K; Rajeshwari, K; Rawat, H; Verma, Jyoti
    OBJECTIVE: To evaluate protien using enteropathy by Tc-99m dextran scintigraphy. METHODS: Methods for detecting protein loss from the intestine revolve around fecal nitrogen excretion, the clearance of alpha-1 antitrypsin in stools and by endoscopic biopsy. RESULT: The diagnosis of protein-losing enteropathy (PLE) can also be established by a scintigraphic method that is noninvasive, simple and requires no patient preparation or motivation. This diagnostic modality can also delineate the site of protein loss, thereby offering a targeted approach, and if need be, surgery. Radiolabelling of a non-protein, noncolloidal, nonparticulate and biofriendly molecule like dextran with Technetium-99m for imaging enteric protein loss was utilized in imaging eight children with PLE. CONCLUSION: The results were encouraging. The authors advocate the use of this diagnostic tool in identifying patients with PLE, particularly in the pediatric age group.
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    Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
    (Indian Academy of Pediatrics, 2018-02) Puri, Ratna Dua; Kapoor, Seema; Kishnani, Priya S; Dalal, Ashwin; Gupta, Neerja; Muranjan, Mamta; Phadke, Shubha R; Sachdeva, Anupam; Verma, Ishwar C; K, Pramod
    Justification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinicalmanifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD haspaucity of information and optimal management guidelines for Indian patients.Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invitedexperts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed andthe draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016at the annual meeting of the Indian Academy of Medical Genetics.Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems foroptimal management of Gaucher disease in India and to define unique needs of this patient population.Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequentlyexperience diagnostic delays during which severe irreversible complications occur. Leucocyte acid ?-glucosidase activity ismandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathicdisease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved byearly initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such asseizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein arefor diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrenceof the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encounteredin our population
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    Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics
    (Indian Academy of Pediatrics, 2022-05) Juneja, Monica; Gupta, Arpita; Sairam, Smitha; Jain, Ridhimaa; Sharma, Monika; Thadani, Anjana; Srinivasan, Roopa; Lingappa, Lokesh; Ahmed, Shabina; Multani, KS; Buch, Pankaj; Chatterjee, Nandita; Dalwai, Samir; Kabra, Madhulika; Kapoor, Seema; Patel, Prarthana Kharod; KM, Girisha; Kulkarni, Madhuri; Kunju, PAM; Malhi, Prahbhjot; Meenai, Zafar; Mishra, Devendra; Mundkur, Nandini; Nair, MKC; Oommen, Samuel Philip; Prasad, Chhaya; Singh, Arun; Srivastava, Leena; Suman, Praveen; Thakur, Rahul
    Justification: Global developmental delay (GDD) is a relatively common neurodevelopmental disorder; however, paucity of published literature and absence of uniform guidelines increases the complexity of clinical management of this condition. Hence, there is a need of practical guidelines for the pediatrician on the diagnosis and management of GDD, summarizing the available evidence, and filling in the gaps in existing knowledge and practices. Process: Seven subcommittees of subject experts comprising of writing and expert group from among members of Indian Academy of Pediatrics (IAP) and its chapters of Neurology, Neurodevelopment Pediatrics and Growth Development and Behavioral Pediatrics were constituted, who reviewed literature, developed key questions and prepared the first draft on guidelines after multiple rounds of discussion. The guidelines were then discussed by the whole group in an online meeting. The points of contention were discussed and a general consensus was arrived at, after which final guidelines were drafted by the writing group and approved by all contributors. The guidelines were then approved by the Executive Board of IAP. Guidelines: GDD is defined as significant delay (at least 2 standard deviations below the mean with standardized developmental tests) in at least two developmental domains in children under 5 years of age; however, children whose delay can be explained primarily by motor issues or severe uncorrected visual/ hearing impairment are excluded. Severity of GDD can be classified as mild, moderate, severe and profound on adaptive functioning. For all children, in addition to routine surveillance, developmental screening using standardized tools should be done at 9-12 months,18-24 months, and at school entry; whereas, for high risk infants, it should be done 6-monthly till 24 months and yearly till 5 years of age; in addition to once at school entry. All children, especially those diagnosed with GDD, should be screened for ASD at 18-24 months, and if screen negative, again at 3 years of age. It is recommended that investigations should always follow a careful history and examination to plan targeted testing and, vision and hearing screening should be done in all cases prior to standardized tests of development. Neuroimaging, preferably magnetic resonance imaging of the brain, should be obtained when specific clinical indicators are present. Biochemical and metabolic investigations should be targeted towards identifying treatable conditions and genetic tests are recommended in presence of clinical suspicion of a genetic syndrome and/or in the absence of a clear etiology. Multidisciplinary intervention should be initiated soon after the delay is recognized even before a formal diagnosis is made, and early intervention for high risk infants should start in the nursery with developmentally supportive care. Detailed structured counselling of family regarding the diagnosis, etiology, comorbidities, investigations, management, prognosis and follow-up is recommended. Regular targeted follow-up should be done, preferably in consultation with a team of experts led by a developmental pediatrician/ pediatric neurologist.
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    Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.
    (2011-09) Kapoor, Seema; Mukherjee, Sharmila Banerjee; Shroff, Daraius; Arora, Ritu
    A 6-year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld- Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
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    Effects of obesity on balance and gait alterations in young adults.
    (2011-07) Sarkar, Aparna; Singh, Meenakshi; Bansal, Nitesh; Kapoor, Seema
    The effects of obesity on the balance and gait parameters like step width and foot angle (degree of toe out) in young adults were studied. 60 subjects of both the genders were taken. 30 were taken as a control group (non-obese, BMI < 25) and 30 were taken as experimental group (obese, BMI 30 >). Functional Reach Test (FRT) was used for Balance Testing and the Footprint method was used for Gait parameters measurements. The value of functional reach test in females was 11.90±0.12 inches in control group and 7.01±1.80 inches in experimental group (t=5.31, P<0.001) and in males, it was 16.45±0.72 inches in control and 11.66±0.53 inches in experimental group (t=6.47, P<0.001). The degree of toe out in females was 6.66±0.08 degrees for control and 8.13±0.21 degrees for experimental group (t=4.08, P<0.01) and in males, it was 6.59±0.04 for control and 9.79±0.51 for experimental group (t=6.53, P<0.001). The step width was found to be 4.41±0.15 inches (control group) and 6.27±0.35 inches (experimental) in males (t=4.53, P<0.01) and it was 3.95±0.03 inches (control) and 3.42±1.05 inches (experimental) in females (t=0.77, P>0.05). We concluded that obesity has a negative impact on balance of an individual. The degree of toe out was more in obese group as compared to normal BMI group in both genders. The Step Width measurement was more in males of obese group than that in males of normal BMI group but it showed statistically insignificant when compared in females of both groups.
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    Establishing National Neonatal Perinatal Database and Birth Defects Registry Network – Need of the Hour.
    (2014-09) Gupta, Neerja; Kabra, Madhulika; Kapoor, Seema
    Early detection and prevention of birth defects is necessary to further reduce neonatal morbidity and mortality. A birth defect registry or surveillance system is necessary to assess the exact magnitude, profile and modifiable risk factors for birth defects. We review the existing efforts and suggest possible options for addressing this important issue. Connecting birth defects registry with the pre-existing programs such as National Neonatal Perinatal Database could be one of the option.
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    Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome.
    (2012-09) Mohanty, Pankaj K; Kapoor, Seema; Dubey, Anand P; Pandey, Sanjeev; Shah, Renuka; Nayak, Hemant K; Polipalli, Sunil K
    Aims and Objective: Evaluation of C677T polymorphisms of the methylenetetra hydrofolate reductase (MTHFR) gene and its association with level of serum homocysteine, folate, and vitamin B12 as possible maternal risk factors for Down syndrome. Design: This was a case-control study. Material and Methods : Fifty-two mothers (mean age 27.6 years) with babies having free trisomy 21 of North Indian ethnicity and 52 control nonlactating mothers (mean age 24.9 years) of same ethnicity attending services of genetic lab for bloodletting for other causes were enrolled after informed written consent. Fasting blood was collected and was used for determination of plasma homocysteine, vitamin B12, and folate (serum and RBC), and for PCR amplification of the MTHFR gene. Results: The prevalence of MTHFR C677T polymorphism in north Indian mothers of babies with trisomy 21 Down syndrome was 15.38% compared to 5.88 % in controls. The difference between two groups was not statistically significant ( P = 0.124). Low serum folate was demonstrated in 34.62% of cases vs. 11.54% in controls, which was significant ( P = 0.005). Low RBC folate was found in 30.7% of cases versus 11.53% in controls, which was not significant ( P = 0.059), when analyzed independently. But on multiple regression analysis the difference was statistically significant. Low serum vitamin B12 was found in 42.31% of cases versus 34.62% in controls, which was not significant ( P = 0.118). The mean serum homocysteine in cases was 10.35 ± 0.68 while controls were 9.02 ± 0.535. Conclusion: Serum levels of folate were low in cases. The RBC folate levels were comparable in both groups. However the combined serum folate and RBC folate were low in cases compared to control groups. Homocysteine levels in our study were higher in Down syndrome mothers compared to controls; however high-serum level of Homocysteine had no association with MTHFR polymorphism. No association of serum vitamin B12 with MTHFR polymorphism in occurrence of Down syndrome births was found. Peri- or preconceptional folate supplementation may therefore lead to a decline in DS births, if supported by larger studies.