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1.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 35(11): 1368-1373, 2021 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-34779160

RESUMO

Objective: To review the research progress on etiology and pathogenesis of spina bifida. Methods: By consulting relevant domestic and foreign research literature on spina bifida, the classification, epidemic trend, pathogenesis, etiology, prevention and treatment of it were analyzed and summarized. Results: Spina bifida, a common phenotype of neural tube defects, is classified based on the degree and pattern of malformation associated with neuroectodermal involvement and is due to the disturbance of neural tube closure 28 days before embryonic development. The prevalence of spina bifida varies greatly among different ethnic groups and regions, and its etiology is complex. Currently, some spina bifida patients can be prevented by folic acid supplements, and with the improvement of treatment technology, the short-term and long-term survival rate of children with spina bifida has improved. Conclusion: The research on the pathogenesis of spina bifida will be based on the refined individual information on exposure, genetics, and complex phenotype, and will provide a theoretical basis for improving prevention and treatment strategies through multidisciplinary cooperation.


Assuntos
Defeitos do Tubo Neural , Disrafismo Espinal , Feminino , Ácido Fólico , Humanos , Gravidez , Prevalência , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/etiologia
2.
J Glob Health ; 11: 18002, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34671465

RESUMO

Background: Food fortification can be an effective intervention to improve maternal and child health. Folic acid fortification can reduce neural tube defects due to folate deficiency. Iron fortification is effective to reduce maternal anemia due to iron deficiency. The paper describes the methods for estimating current coverage levels for iron fortification and folic acid fortification and estimates current impact of fortification in low- and middle-income countries (LMICs) using the Lives Saved Tool (LiST). Methods: The database was obtained from Global Fortification Data Exchange. We used the following indicators from the database: food intake, fortification standard, percent of food produced in industrial mills, and percent of industrially milled food that is fortified. Together with the recommended dietary allowances for women of reproductive age (WRA), we calculated percentage of WRA getting recommended intake through fortification and used the percentage as an estimate for fortification coverage. We then used LiST to estimate the health impact of fortification on maternal and child health. Results: Folic acid was fortified in 72 countries, with a median coverage of 43%. Iron was fortified in 87 countries, with a median coverage of 23%. Forty-six LMICs fortified either folic acid, iron, or both. And the weighted coverage of folic acid fortification and iron fortification were 34% and 19%, respectively. A greater percentage of WRA got appropriate levels of folic acid and iron via fortification in higher income countries. Based on LiST projection, it is estimated that in 2021, over 4 million anemia cases among WRA will be averted due to consumption of iron fortified food. About 1900 stillbirths and 3000 neonatal deaths due to neural tube defects will be averted due to consumption of folic acid fortified food. Conclusions: We estimated the coverage of folic acid fortification and iron fortification in LMICs and included them in the most recent version of LiST. Trends in coverage will be included in LiST as data become available. Our analysis shows that while most LMICs have fortification programs, currently the effects of these programs are limited either through low levels of fortification in industrialized food, low consumption of fortified food or both.


Assuntos
Países em Desenvolvimento , Defeitos do Tubo Neural , Criança , Feminino , Ácido Fólico , Alimentos Fortificados , Humanos , Recém-Nascido , Ferro , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle
4.
5.
PLoS One ; 16(10): e0258488, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34673787

RESUMO

BACKGROUND: Neural tube defects (NTDs) constitute the most frequent group among congenital malformations and are the main cause of neonatal morbimortality. Folic acid (FA) can reduce the risk of pregnancies affected by NTDs. OBJECTIVE: We aimed to investigate whether mandatory folic acid (FA) fortification of flours is cost-effective as compared to non-mandatory fortification, and to verify whether FA dosage, cost composition, and the quality of economic studies influence the cost-effectiveness of outcomes. METHODS: We conducted a systematic review. The protocol was registered on PROSPERO (CRD 42018115682). A search was conducted using the electronic databases MEDLINE/PubMed, Web of Science, Embase, Scopus, and EBSCO/CINAHL between January 2019 and October 2020 and updated in February 2021. Eligible studies comprised original economic analyses of mandatory FA fortification of wheat and corn flours (maize flours) compared to strategies of non-mandatory fortification in flours and/or use of FA supplements for NTD prevention. The Drummond verification list was used for quality analysis. RESULTS: A total of 7,859 studies were identified, of which 13 were selected. Most (77%; n = 10) studies originated from high-income countries, while three (23%) were from upper-middle-income countries. Results of a cost-effectiveness analysis showed that fortification is cost-effective for NTD prevention, except for in one study in New Zealand. The cost-benefit analysis yielded a median ratio of 17.5:1 (0.98:1 to 417.1:1), meaning that for each monetary unit spent in the program, there would be a return of 17.5 monetary units. Even in the most unfavorable case of mandatory fortification, the investment in the program would virtually payoff at a ratio of 1:0.98. All FA dosages were cost-effective and offered positive health gains, except in one study. The outcomes of two studies showed that FA dosages above 300 µg/100 g have a higher CBA ratio. The studies with the inclusion of "loss of consumer choice" in the analysis may alter the fortification cost-efficacy ratio. CONCLUSION: We expect the findings to be useful for public agencies in different countries in decision-making on the implementation and/or continuity of FA fortification as a public policy in NTD prevention.


Assuntos
Defeitos do Tubo Neural , Humanos
6.
JNMA J Nepal Med Assoc ; 59(236): 396-398, 2021 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-34508522

RESUMO

Anencephaly is a condition in which there is an absence of skull and brain tissues. Absence of cranial vault mainly results because of defective neurulation. Absence of cerebral tissues may cause diminished heart size, due to decreased heart load causing various cardiac abnormalities. Here, we report a case of a primigravida lady at 17 weeks of gestation with misoprostol induced expulsion of fetus after ultrasonography revealed absence of brain tissue and calvarium above the orbits suggesting anencephaly. A 300g fetus was delivered which confirmed the ultrasound findings. The patient was discharged with advice for intake of folic acid beginning from 3 months before conception in future pregnancies. Neural tube defects can manifest within approximately 28 days of gestation which highlights the importance of oral folic acid intake before pregnancy.


Assuntos
Anencefalia , Misoprostol , Defeitos do Tubo Neural , Anencefalia/diagnóstico por imagem , Feminino , Feto , Humanos , Misoprostol/efeitos adversos , Gravidez , Ultrassonografia
7.
J Med Case Rep ; 15(1): 442, 2021 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-34470662

RESUMO

BACKGROUND: Patients with tethered cord syndrome often suffer severe spasticity. To the best of our knowledge, intrathecal baclofen (ITB) therapy in a patient with tethered cord syndrome has not been reported previously. We describe a case in which ITB therapy was useful for treating severe spasticity in an adult with tethered cord syndrome. CASE PRESENTATION: We present the case of a 50-year-old Japanese woman with tethered cord syndrome and related conditions suffering from severe spasticity and pain in the lower limbs. She was born with a lumbosacral myelomeningocele, which was closed in the neonatal period. For 4-5 years before this presentation, spasticity in the lower limbs had been exacerbated without any obvious cause. She received rehabilitation and pharmacotherapy from a local doctor, but symptoms were unimproved, and her previous doctor referred her to this department. A test with 50 µg of intrathecally delivered baclofen showed total relief of spasticity and pain, so a pump was implanted for continuous baclofen delivery. During 24 months of follow-up, spasticity has remained under excellent control with baclofen at 38.5-41.0 µg/day. CONCLUSIONS: ITB therapy proved extremely effective in this adult with severe spasticity from tethered code syndrome.


Assuntos
Relaxantes Musculares Centrais , Defeitos do Tubo Neural , Adulto , Baclofeno/uso terapêutico , Feminino , Humanos , Recém-Nascido , Bombas de Infusão Implantáveis , Injeções Espinhais , Pessoa de Meia-Idade , Relaxantes Musculares Centrais/uso terapêutico , Espasticidade Muscular/tratamento farmacológico , Espasticidade Muscular/etiologia , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/tratamento farmacológico
8.
J Comp Pathol ; 187: 68-74, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34503656

RESUMO

We report a 9-year-old Thoroughbred gelding that had sudden onset lameness of the right forelimb with episodes of lateral decubitus and generalized pain after completion of a normal training session. The clinical signs subsequently became less pronounced with only mild right forelimb lameness. However, after further orthopaedic examination, it developed severe, acute ataxia and paraplegia, the Schiff-Sherrington phenomenon and risus sardonicus. At necropsy, a partial duplication of the cervical spinal cord was identified, consistent with split spinal cord malformation type II or diplomyelia. However, the clinical significance of this finding is not clear.


Assuntos
Doenças dos Cavalos , Defeitos do Tubo Neural , Medula Espinal/patologia , Animais , Cavalos , Masculino , Defeitos do Tubo Neural/veterinária
9.
Pediatr Rev ; 42(9): 486-499, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34470868

RESUMO

Spinal cord diseases in pediatric patients are highly variable in terms of presentation, pathology, and prognosis. Not only do they differ with respect to each other but so too with their adult equivalents. Some of the most common diseases are autoimmune (ie, multiple sclerosis, acute disseminated encephalomyelitis, and acute transverse myelitis), congenital (ie, dysraphism with spina bifida, split cord malformation, and tethered cord syndrome), tumor (ie, juvenile pilocytic astrocytoma, ependymoma, and hem-angioblastoma), and vascular (ie, cavernous malformations, arteriovenous malformations, and dural arteriovenous fistulas) in nature. These each require their own niche treatment paradigm and prognosis. Furthermore, presentation of different spinal cord diseases in children can be difficult to discern without epidemiologic and imaging data. Interpretation of these data is crucial to facilitating a timely and accurate diagnosis. Correspondingly, the aim of this review was to highlight the most pertinent features of the most common spinal cord diseases in the pediatric population.


Assuntos
Encefalomielite Aguda Disseminada , Mielite Transversa , Defeitos do Tubo Neural , Doenças da Medula Espinal , Disrafismo Espinal , Adulto , Criança , Humanos , Imageamento por Ressonância Magnética , Medula Espinal , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/terapia
12.
J Med Case Rep ; 15(1): 429, 2021 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-34399841

RESUMO

BACKGROUND: Neural tube defects are common group of central nervous system anomalies of complex etiology and major public health importance worldwide. The occurrence of multiple neural tube defects, however, is an extremely rare event and has never been reported in Ethiopia so far. This study gives an insight into how the embryogenesis, management, and postoperative complications of multiple neural tube defects differ from the ordinary single neural tube defects on the basis of up-to-date existing literature. CASE PRESENTATION: This paper highlights a case of an 8 days old female black race Ethiopian neonate who was brought by her mother with the chief complaint of lower back and lower neck swelling since birth. The findings were a 5 × 4 × 5 cm sized ulcerated placode at the mid-lumbosacral area and a 1.5 × 1.5 × 1 cm sized fluctuant, nontender, transilluminating mass with overlying unruptured defect dysplastic skin at the cervicothoracic junction. With a diagnosis of multiple neural tube defects secondary to unruptured cervicothoracic meningocele and ruptured lumbosacral myelomeningocele, single-stage repair of the defects was done with good outcome. CONCLUSION: There is insufficient evidence as to the exact mechanism of development of multiple neural tube defects. Similarly, whether patients with multiple neural tube defects had increased risk of post repair hydrocephalus compared with patients who have single neural tube defect is unknown. Hence, more research on the embryogenesis, management, and long-term outcome of multiple neural tube defects in particular and single neural tube defects in general should be done to better help patients with this costly and crippling problem. Lastly, the practice of folic acid supplementation is very low in resource-limited countries such as Ethiopia and, hence, should be improved.


Assuntos
Meningomielocele , Defeitos do Tubo Neural , Etiópia , Feminino , Ácido Fólico , Hospitais , Humanos , Coluna Vertebral
13.
Medicina (Kaunas) ; 57(7)2021 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-34356988

RESUMO

Background and Objectives: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with damage worsening with advancing gestational age. The Management of Myelomeningocele Study (MOMS) Trial proved that surgery performed before 26 weeks of gestation significantly improved the prognosis, significantly changing treatment paradigms. This article aims to provide a review of the changes and updates in spina bifida repair over the 10-year period following the MOMS Trial. Material and methods: We performed a systematic review in the PubMed and Cochrane databases as well as a hand-search of high-impact journals using the reference list of all identified articles, searching for randomized controlled trials and observational studies. Results: We identified 27 articles published between 2011 and 2021 that fulfilled the inclusion criteria and review them in the present study. Conclusions: With growing experience and with the improvement of prenatal open and fetoscopic techniques, the outcome of SB-associated conditions could be improved and the risks to both the mother and the fetus reduced. A continuous follow-up of the treated infants and further randomized trials are essential to study the complications and advantages or disadvantages of any given treatment strategy.


Assuntos
Meningomielocele , Defeitos do Tubo Neural , Disrafismo Espinal , Feminino , Feto , Idade Gestacional , Humanos , Lactente , Meningomielocele/cirurgia , Gravidez
14.
Turk J Pediatr ; 63(4): 683-690, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34449151

RESUMO

BACKGROUND: This study aims to evaluate the experience of a tertiary health center on the timeliness of postnatal management in newborns with open neural tube defects (NTDs). METHODS: This is a retrospective review of 38 neonates with NTDs who were treated surgically at a tertiary health care center between January 2009 and January 2019. Five neonates with genetic syndromes were excluded. RESULTS: Twenty-six neonates with NTD underwent surgery on the first postnatal day while 12 neonates with NTD had surgery after the first postnatal day. The reasons for the latency in operative treatment were the delay in the referral of the affected newborn from other health care centers (n=8) and the transient abnormalities in coagulation tests (n=4). Rural residence was significantly more frequent, gestational age at delivery was significantly lower, preterm delivery was significantly more frequent and prenatal diagnosis was significantly less frequent in neonates that underwent surgery for NTD repair after the first postnatal day (p=0.001, p=0.048, p=0.024 and p=0.003 respectively). Postoperative motor dysfunction was significantly more severe (p=0.002), postoperative complications were significantly more frequent (p=0.008), the reoperation and postoperative mortality rates were significantly higher (p=0.009 and p=0.048 respectively) and the duration of hospital stay was significantly longer (p=0.033) for the neonates who underwent surgery after the first postnatal day. CONCLUSIONS: Our study appears to favor the early repair of NTD`s within the first 24 hours of life. Such an approach may reduce the risk of infectious and neurological complications significantly.


Assuntos
Defeitos do Tubo Neural , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Centros de Atenção Terciária
15.
Birth Defects Res ; 113(16): 1190-1197, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34453500

RESUMO

BACKGROUND: An in vitro rat whole embryo culture study investigated whether direct exposure to dolutegravir (TivicayTM ) during the critical period for neural tube development would result in abnormal development. METHODS: Dolutegravir (DTG), and HIV integrase inhibitor, was administered at 0 (vehicle), 5.3 µg/mL and 9.3 µg/mL on Gestation Day (GD) 9 through 11 (approximate 40 hour exposure period) along with positive (Valproic Acid) and negative (Penicillin G) controls. The DTG concentrations tested were selected based on clinical exposure at the maximum human recommended dose and maximum feasible concentration that could be formulated under the experimental conditions. RESULTS: Approximately 6% of DTG present in the culture media was absorbed into the embryos, demonstrating embryonic exposure at a similar level to that observed in a rat DTG placental transfer study. There was no effect in either the DTG or Penicillin G groups on visceral yolk sac size/morphology, embryo size, somite number and embryo morphology at any concentration tested. Valproic Acid, by contrast, produced statistically significant decreases in visceral yolk sac size, embryo size and somite number along with defects in visceral yolk sac and embryonic morphology, including neural tube defects (NTDs), in all embryos. CONCLUSION: DTG at the maximum human recommended dose administered to rats in a whole embryo culture assay did not produce any abnormal effects, while the positive control Valproic Acid produced abnormal effects, including neural tube defects.


Assuntos
Defeitos do Tubo Neural , Placenta , Animais , Embrião de Mamíferos , Feminino , Compostos Heterocíclicos com 3 Anéis/toxicidade , Oxazinas , Piperazinas , Gravidez , Piridonas , Ratos
16.
Twin Res Hum Genet ; 24(3): 155-159, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34308812

RESUMO

Strong associations between neural tube defects (NTDs) and monozygotic (MZ) twinning have long been noted, and it has been suggested that NTD cases who do not present as MZ twins may be the survivors of MZ twinning events. We have recently shown that MZ twins carry a strong, distinctive DNA methylation signature and have developed an algorithm based on genomewide DNA methylation array data that distinguishes MZ twins from dizygotic twins and other relatives at well above chance level. We have applied this algorithm to published methylation data from five fetal tissues (placental chorionic villi, kidney, spinal cord, brain and muscle) collected from spina bifida cases (n = 22), anencephalic cases (n = 15) and controls (n = 19). We see no difference in signature between cases and controls, providing no support for a common etiological role of MZ twinning in NTDs. The strong associations therefore continue to await elucidation.


Assuntos
Defeitos do Tubo Neural , Gemelaridade Monozigótica , Doenças em Gêmeos/genética , Epigênese Genética , Feminino , Humanos , Defeitos do Tubo Neural/genética , Placenta , Gravidez , Gemelaridade Monozigótica/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
17.
Chemosphere ; 284: 131387, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34217934

RESUMO

Aluminum (Al)1 is ubiquitously present in the environment, and human exposure to Al is common. Al has been reported to be involved in various human diseases and adverse pregnancy outcomes, including neural tube defects (NTDs). This study aimed to examine the association between prenatal Al exposure and the risk for NTDs using Al concentrations in maternal serum and placental tissue. The subjects were recruited from six counties/cities in the Shanxi province of northern China from 2003 to 2016. Al concentrations in both types of specimens were assessed using inductively coupled plasma-mass spectrometry. In the maternal serum cohort (200 cases and 400 controls), compared to the lowest tertile concentration of Al, the highest Al tertile was associated with 2.42-fold (95% confidence interval, 1.23-4.87) increased risk after adjustment for confounding factors. In the placental tissue cohort (408 cases and 593 controls), the highest tertile of Al also tended to be associated with an elevated risk for NTDs [adjusted odds ratio, 1.60 (0.94-2.70)]. When analyzed by NTD subtypes, the highest Al tertile was associated with an increased risk for anencephaly in both cohorts after adjustment for confounders [odds ratio, 1.97 (1.15-3.48) in the maternal serum cohort; odds ratio, 4.75 (2.01-12.00) in the placental tissue cohort]. Taken together, using concentrations of Al in maternal serum and placental tissue as exposure markers, we found that prenatal exposure to higher levels of Al is a risk factor for fetal NTDs, especially for the anencephaly subtype.


Assuntos
Alumínio , Defeitos do Tubo Neural , Feminino , Feto , Humanos , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/epidemiologia , Razão de Chances , Placenta , Gravidez
18.
Pediatr Neurosurg ; 56(5): 448-454, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34293742

RESUMO

INTRODUCTION: Split cord malformations (SCMs) are developmental anomalies that are associated with a number of congenital defects. However, a combination of SCM I with a neuroenteric cyst (NEC) is extremely rare, and only 11 cases have been described in the literature. To the best of authors' knowledge, the combination of the above two with dermoid cyst and thickened filum terminale has never been reported in the literature. CASE PRESENTATION: We present a case of the above combination in a 2-year-old child who underwent microsurgical excision of all 4 pathologies and complete recovery. CONCLUSION: NEC and dermoid should be considered in the differential diagnosis when imaging reveals cystic pathology along with SCM. Expeditious surgical repair resulted in an outstanding functional outcome at 1-year follow-up.


Assuntos
Cauda Equina , Cisto Dermoide , Defeitos do Tubo Neural , Cauda Equina/diagnóstico por imagem , Cauda Equina/cirurgia , Pré-Escolar , Cisto Dermoide/diagnóstico por imagem , Cisto Dermoide/cirurgia , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/cirurgia
19.
Childs Nerv Syst ; 37(10): 3003-3011, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34268593

RESUMO

INTRODUCTION: Tethered cord syndrome (TCS) is an amalgamation of neurological, urological, orthopedic, and dermatologic signs and symptoms with radiographic evidence of a thickened filum and low-lying conus. Surgical sectioning of the filum and disconnection of any tethering entities such as dermal sinus tracts or lipomas has been shown to improve outcomes. The manifestation of TCS symptoms in the absence of a low-lying conus has been referred to as occult tethered cord syndrome (OTCS) and is much less well reviewed in the literature. To date, there has only been one randomized controlled trial examining the effect of intervention in OTCS; therefore, contemporary data is often elicited from limited cohorts. OBJECTIVE: To perform a comprehensive literature review of management in OTCS and evaluate treatment response rates to sectioning of the filum terminale. RESULTS: Seventeen papers met inclusion criteria for our review. Sample sizes ranged from 8 to 60 children, and results were mixed, often dependent on study design, definition of typical OTCS symptoms, and follow-up intervals. Symptomatic improvement was observed in > 50% of patients for all but one study; however, the recurrence rates were highly variable. CONCLUSION: The data regarding the efficacy of surgical treatment in OTCS is mixed and merits more rigorous scientific examination with strict and clear parameters regarding symptomatic operationalization and follow-up time points to monitor for TCS recurrence.


Assuntos
Cauda Equina , Lipoma , Defeitos do Tubo Neural , Cauda Equina/diagnóstico por imagem , Cauda Equina/cirurgia , Criança , Humanos , Recidiva Local de Neoplasia , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/cirurgia
20.
J Med Screen ; 28(4): 405-410, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34279151

RESUMO

OBJECTIVE: To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. SETTING: The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions. METHODS: Information regarding tests offered and the monthly number of pregnancies tested for US-based laboratories were reviewed. Results were stratified by size of laboratory, tests offered, and pregnancies tested. Findings were compared to an earlier survey. RESULTS: Fifty-six laboratories reported they will have screened 1,131,336 pregnancies in 2020. Of these, 36% are screened by stand-alone first trimester testing, 48% by stand-alone second trimester testing, and 16% using tests that integrate results from both trimesters. Eighty percent of all serum screens were provided by the five laboratories that performed the most screens (at least 50,000). These five performed similar proportions of first or second trimester screens (42.2% and 41.8%, respectively). Compared to eight years earlier, there are now 54% fewer laboratories. Pregnancies screened using the first trimester, second trimester, and integrated protocols were lower by 27%, 69%, and 72%, respectively. The serum screening activity in the US showed a 62% decrease from 2012 levels. During 2012-2020, the number of cell-free DNA tests increased from negligible to 1,492,332. CONCLUSIONS: Maternal serum screening for common aneuploidies has changed significantly in eight years with fewer laboratories, a shift toward larger laboratories and a 2.5-fold reduction in pregnancies tested, likely due to the introduction of cell-free DNA screening.


Assuntos
Síndrome de Down , Defeitos do Tubo Neural , Síndrome de Down/diagnóstico , Feminino , Humanos , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Estados Unidos
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