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1.
J Nutr ; 154(3): 846-855, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38278216

RESUMEN

BACKGROUND: The health benefits of a Mediterranean-style diet (MSD) are well observed, but the underlying mechanisms are unclear. Metabolomic profiling offers a systematic approach for identifying which metabolic biomarkers and pathways might be affected by an MSD. OBJECTIVES: This study aimed to identify postpartum plasma metabolites that are associated with MSD adherence during pregnancy and to further test whether these identified metabolites may vary by maternal characteristics. METHODS: We analyzed data from 1410 mothers enrolled in the Boston Birth Cohort (BBC). A maternal food frequency questionnaire (FFQ) was administered and epidemiologic information was obtained via an in-person standard questionnaire interview within 24-72 h postpartum. Maternal clinical information was extracted from electronic medical records. A Mediterranean-style diet score (MSDS) was calculated using responses to the FFQ. Metabolomic profiling in postpartum plasma was conducted by liquid chromatography-MS. Linear regression models were used to assess the associations of each metabolite with an MSDS, adjusting for covariates. RESULTS: Among the 380 postpartum plasma metabolites analyzed, 24 were associated with MSDS during pregnancy (false discovery rate < 0.05). Of 24 MSDS-associated metabolites, 19 were lipids [for example, triacylglycerols, phosphatidylcholines (PCs), PC plasmalogen, phosphatidylserine, and phosphatidylethanolamine]; others were amino acids (methionine sulfoxide and threonine), tropane (nor-psi-tropine), vitamin (vitamin A), and nucleotide (adenosine). The association of adenosine and methionine sulfoxide with MSDS differed by race (P-interaction = 0.033) and maternal overweight or obesity status (P-interaction = 0.021), respectively. CONCLUSIONS: In the BBC, we identified 24 postpartum plasma metabolites associated with MSDS during pregnancy. The associations of the 2 metabolites varied by maternal race and BMI. This study provides a new insight into dietary effects on health under the skin. More studies are needed to better understand the metabolic pathways underlying the short- and long-term health benefits of an MSD during pregnancy.


Asunto(s)
Cohorte de Nacimiento , Dieta Mediterránea , Metionina/análogos & derivados , Embarazo , Femenino , Humanos , Periodo Posparto , Adenosina
2.
Birth ; 50(4): 1009-1017, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37533361

RESUMEN

BACKGROUND: Breastfeeding imparts numerous health and social benefits for families. Barriers deter some individuals from breastfeeding. Rates are lower among certain populations, including participants of the federally funded Women, Infants, and Children's Program (WIC). Women, Infants, and Children's Program provides low-income pregnant and postpartum women and children under 5 with nutrition education, supplemental foods, breastfeeding education and support, and resource linkages. Investigation of WIC participants' hospital experiences and breastfeeding decisions is limited. We explore qualitative themes associated with breastfeeding-related hospital maternity care practices experienced by WIC participants. METHODS: Thirty pregnant individuals intending to breastfeed were recruited at WIC clinics to complete in-depth interviews at 2 weeks, 3 months, and 6 months of postpartum. Using the Thematic Framework methodology, we analyzed data from the two-week interviews of 29 participants with respect to hospital breastfeeding experiences. RESULTS: Fourteen participants were exclusively breastfeeding at discharge (EBFD). Fifteen were partially breastfeeding at discharge (PBFD). Differences between groups were found in hospital breastfeeding experiences, particularly in staff support. All participants EBFD reported positive breastfeeding-related staff experiences. Most participants PBFD reported limited and ineffective staff interaction, leading to formula introduction. CONCLUSIONS: Individuals EBFD and those PBFD reported about the same rate of hospital breastfeeding difficulties, yet half introduced formula within the first few days postpartum. Results reiterate the importance of hospital staff support to breastfeeding exclusivity at 2-3 days postpartum. The challenges that these individuals faced may have been resolved through available, responsive, and effective intervention. Data-driven breastfeeding education programs for hospital health professionals are critical to affect patient breastfeeding outcomes.


Asunto(s)
Lactancia Materna , Servicios de Salud Materna , Lactante , Niño , Femenino , Humanos , Embarazo , Maryland , Alta del Paciente , Pobreza
3.
Ann Intern Med ; 175(10): 1411-1422, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-36063550

RESUMEN

BACKGROUND: The Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) is intended to improve maternal and child health outcomes. In 2009, the WIC food package changed to better align with national nutrition recommendations. PURPOSE: To determine whether WIC participation was associated with improved maternal, neonatal-birth, and infant-child health outcomes or differences in outcomes by subgroups and WIC enrollment duration. DATA SOURCES: Search (January 2009 to April 2022) included PubMed, Embase, CINAHL, ERIC, Scopus, PsycInfo, and the Cochrane Central Register of Controlled Trials. STUDY SELECTION: Included studies had a comparator of WIC-eligible nonparticipants or comparison before and after the 2009 food package change. DATA EXTRACTION: Paired team members independently screened articles for inclusion and evaluated risk of bias. DATA SYNTHESIS: We identified 20 observational studies. We found: moderate strength of evidence (SOE) that maternal WIC participation during pregnancy is likely associated with lower risk for preterm birth, low birthweight infants, and infant mortality; low SOE that maternal WIC participation may be associated with a lower likelihood of inadequate gestational weight gain, as well as increased well-child visits and childhood immunizations; and low SOE that child WIC participation may be associated with increased childhood immunizations. We found low SOE for differences in some outcomes by race and ethnicity but insufficient evidence for differences by WIC enrollment duration. We found insufficient evidence related to maternal morbidity and mortality outcomes. LIMITATION: Data are from observational studies with high potential for selection bias related to the choice to participate in WIC, and participation status was self-reported in most studies. CONCLUSION: Participation in WIC was likely associated with improved birth outcomes and lower infant mortality, and also may be associated with increased child preventive service receipt. PRIMARY FUNDING SOURCE: Agency for Healthcare Research and Quality. (PROSPERO: CRD42020222452).


Asunto(s)
Asistencia Alimentaria , Evaluación de Programas y Proyectos de Salud , Niño , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Nacimiento Prematuro/epidemiología , Política Nutricional , Estudios Observacionales como Asunto
4.
J Med Internet Res ; 25: e40934, 2023 02 03.
Artículo en Inglés | MEDLINE | ID: mdl-36735286

RESUMEN

BACKGROUND: The use of digital communication platforms to improve health behaviors has increased dramatically over the last decade. Public health practitioners have adopted digital communication technologies such as text messages, mobile apps, and social media to reach diverse populations. However, the effectiveness of digital communication platforms used by community-serving agencies remains unclear, and patterns of engagement and acceptability of different platforms have not been studied. OBJECTIVE: This review aimed to identify the types of digital communication strategies used by community-serving organizations to promote healthy behaviors, assess the strength of evidence for health behavioral change, and describe the degree of consumer engagement with and acceptability of these strategies. The study population included low-income pregnant women, parents of young children, and adolescents. METHODS: A systematic review was conducted according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines using PubMed, Scopus, Web of Science, CINAHL, and APA PsycInfo, covering research conducted from 2009 to 2022. Studies were included if they examined the use of digital communication (ie, texting, mobile apps, or social media) to promote healthy behaviors in the target population. Risk of bias and strength of evidence were assessed using the Effective Public Health Practice Project Risk of Bias tool and criteria from Agency for Healthcare Research and Quality, respectively. RESULTS: Twenty-three peer-reviewed research studies published between 2012 and 2022, conducted in the United States, the United Kingdom, and Australia, were included in the review. The sample comprised studies exploring the use of texting (n=12), apps (n=6), social media (n=3), and multiple platforms (n=2; eg, texting and mobile apps). Targeted health behaviors included healthy diet, physical activity, obesity prevention, healthy pregnancy, breastfeeding, vaccine use, smoking cessation, and nutrition benefit redemption. The sample included 8 randomized controlled trials, 6 pretest-posttest design, 3 mixed methods studies, 2 pilot studies, 1 feasibility study, 1 prospective cohort study, 1 descriptive study, and 1 cross-sectional study. The median sample size was 77.5. There was no strong evidence to suggest the effectiveness of digital media campaigns in improving health behaviors; however, there were moderate to high levels of engagement and high levels of acceptability across digital platforms. CONCLUSIONS: Low-income pregnant women, parents of young children, and adolescents demonstrated moderate levels of engagement with and high levels of acceptability of digital media health campaigns conducted by community-serving agencies. The effectiveness of these strategies in improving health behaviors was inconclusive. Additional rigorous studies with larger sample sizes are required. In addition, more research is required to consistently measure and report participants' engagement with each platform. Digital communication platforms are critical tools for public health practitioners, and future investigations of the effectiveness of these platforms in engaging clients and improving health behaviors will maximize client services.


Asunto(s)
Aplicaciones Móviles , Envío de Mensajes de Texto , Niño , Adolescente , Humanos , Femenino , Embarazo , Preescolar , Estudios Transversales , Internet , Estudios Prospectivos , Conductas Relacionadas con la Salud
5.
Diabetes Obes Metab ; 24(11): 2148-2158, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35712800

RESUMEN

AIM: To evaluate the potential for glycaemic, renal and vascular benefits of bromocriptine quick release (BCQR) in adolescents and adults with type 1 diabetes. MATERIALS AND METHODS: Forty adolescents and 40 adults with type 1 diabetes aged 12-60 years old were enrolled in a double-blind, placebo-controlled, random order crossover study of 4 weeks of treatment in the morning with BCQR (titrated weekly from 0.8 mg to 1.6 mg to 3.2 mg, minimum dose 1.6 mg). Study assessments after each phase included blood pressure (BP), lipids, peripheral arterial stiffness and autonomic function, mixed meal tolerance test, continuous glucose monitoring (CGM), creatinine, estimated glomerular filtration rate, estimated insulin sensitivity, insulin dose and indirect calorimetry. RESULTS: Adolescents displayed baseline hyperglycaemia, insulin resistance, metabolic dysfunction and increased renal filtration compared with adults. In both age groups, continuous glucose monitoring measures, estimated insulin sensitivity and insulin dose did not differ with BCQR treatment. In adolescents, BCQR decreased systolic BP, diastolic BP and triangular index and increased serum creatinine. In adults, systolic BP, mean arterial pressure, systemic vascular resistance, and mixed meal tolerance test glucose and glucagon-like peptide 1 areas under the curve were lower, and the orthostatic drop in systolic BP was greater with BCQR. CONCLUSIONS: Greater hyperglycaemia, insulin resistance, metabolic dysfunction and renal hyperfiltration in adolescents argues for increased attention during this high-risk age period. Although BCQR had little impact on glycaemia or insulin sensitivity, initial vascular and renal responses suggest potential benefits of BCQR in adolescents and adults with type 1 diabetes requiring further study.


Asunto(s)
Diabetes Mellitus Tipo 1 , Hiperglucemia , Resistencia a la Insulina , Adolescente , Adulto , Glucemia/metabolismo , Automonitorización de la Glucosa Sanguínea , Bromocriptina/uso terapéutico , Niño , Creatinina , Estudios Cruzados , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Método Doble Ciego , Péptido 1 Similar al Glucagón/uso terapéutico , Humanos , Hiperglucemia/tratamiento farmacológico , Hiperglucemia/prevención & control , Insulina/metabolismo , Lípidos , Persona de Mediana Edad , Adulto Joven
6.
BMC Pregnancy Childbirth ; 22(1): 904, 2022 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-36471280

RESUMEN

BACKGROUND: In 2016, the American College of Obstetricians and Gynecologists recommended antenatal corticosteroids in the late preterm period for women at risk for preterm delivery. Limited real-world evidence exists on neonatal outcomes, particularly for twin gestations, following the guideline change. The study objective is to determine the association of antenatal corticosteroids in late preterm singleton and twin pregnancies with respiratory complications and hypoglycemia in a real-world clinical setting. METHODS: This is a retrospective cohort study comprising late preterm deliveries (4,341 mother-child pairs) within the Mount Sinai Health System, 2012-2018. The exposure of interest is antenatal corticosteroid administration of betamethasone during pregnancy between 34 0/7 and 36 6/7 weeks. Our primary outcomes are neonatal respiratory complications and hypoglycemia. Multivariable logistic regression was used to estimate the association between antenatal corticosteroid exposure and these two outcomes. We stratified the study population by singleton gestations and twins to minimize the potential confounding from different obstetric management between the two groups. RESULTS: Among a total of 4,341 mother-child pairs (3,309 singleton and 1,032 twin mother-child pairs), 745 mothers received betamethasone, of which 40.94% (305/745) received the full course. Relative to no treatment, a full course of betamethasone was associated with reduced odds of respiratory complications (OR = 0.53, 95% CI:[0.31-0.85], p < 0.01) and increased odds of hypoglycemia (OR = 1.86, 95%CI:[1.34-2.56], p < 0.01) in singletons; however, the association with respiratory complications was not significant in twins (OR = 0.42, 95% CI:[0.11-1.23], p = 0.16), but was associated with increased odds of hypoglycemia (OR = 2.18, 95% CI:[1.12-4.10], p = 0.02). A partial course of betamethasone (relative to no treatment) was not significantly associated with any of the outcomes, other than respiratory complications in twins (OR = 0.34, 95% CI:[0.12-0.82], p = 0.02). CONCLUSIONS: Exposure to antenatal corticosteroids in singletons and twins is associated with increased odds of hypoglycemia. Among singletons, exposure to the full dosage (i.e. two doses) was associated with decreased odds of respiratory complications but this was only the case for partial dose among twins. Twin gestations were not studied by the Antenatal Late Preterm Steroids trial. Therefore, our study findings will contribute to the paucity of evidence on the benefit of antenatal corticosteroids in this group. Health systems should systematically monitor guideline implementations to improve patient outcomes.


Asunto(s)
Corticoesteroides , Hipoglucemia , Síndrome de Dificultad Respiratoria del Recién Nacido , Femenino , Humanos , Recién Nacido , Embarazo , Corticoesteroides/efectos adversos , Betametasona/efectos adversos , Hipoglucemia/inducido químicamente , Hipoglucemia/epidemiología , Hipoglucemia/prevención & control , Embarazo Gemelar , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/prevención & control , Nacimiento Prematuro/tratamiento farmacológico , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Síndrome de Dificultad Respiratoria del Recién Nacido/prevención & control , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Estudios Retrospectivos
7.
Matern Child Health J ; 26(5): 1153-1159, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35334026

RESUMEN

OBJECTIVES: The Baby-Friendly Hospital Initiative is an effective intervention to support maternal practices around breastfeeding. However, little is known about its impact on participants of the Special Supplemental Nutrition Program for Women, Infants and Children (WIC). The purpose of this study was to evaluate whether Baby Friendly Hospital (BFH) designation in Maryland improved breastfeeding practices among Special Supplemental Nutrition Program for Women, Infants and Children (WIC) participants. METHODS: Breastfeeding practices of WIC participants (22,543 mother-infant dyads) were analyzed utilizing WIC management information system de-identified data from four Maryland WIC agencies during 2010-12 and 2017-19. Participants lived in areas served by a hospital that became BFH in 2016 or remained non-BFH. Pre-post implementation breastfeeding practices (breastfeeding initiation, at 3 months and 6 months) of women associated with a BFH were compared to women associated with a non-BFH using propensity score weighting and a difference-in-difference modeling. RESULTS: From pre to post intervention no differences in breastfeeding initiation or any breastfeeding at 6 months were attributable to BFH status. There was some evidence that BFH designation in 2016 was associated with an absolute percent change of 2.4% (P = 0.09) for any breastfeeding at 3 months. DISCUSSION: Few differences in breastfeeding outcomes among WIC participants were attributable to delivery in a BFH. Results from this study inform policy about maternity practices impacting WIC breastfeeding outcomes. More study needed to determine the impact of BFH delivery on differences in breastfeeding outcomes between sub-groups of women.


Asunto(s)
Lactancia Materna , Promoción de la Salud , Niño , Femenino , Promoción de la Salud/métodos , Hospitales , Humanos , Lactante , Maryland , Madres , Embarazo
8.
J Urban Health ; 98(2): 296-307, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33094426

RESUMEN

While emerging evidence is highlighting a growing problem of food insecurity among adolescents in disadvantaged neighborhoods, very little is known about the factors that may either protect or place adolescents at higher risk for food insecurity. The primary objective for this analysis, therefore, was to examine the associations between individual-, family-, and neighborhood-level risks and protective factors and food insecurity among 452 adolescents in Baltimore, Maryland. Results show that nearly 30% of our sample were food insecure (29.4%). Food insecure youth were more likely to be unstably housed (OR 5.17, 1.24-21.62), live in larger households (OR 1.14, 1.08-1.20), and perceive their neighborhoods unsafe (OR 2.37, 1.47-3.83). Protective factors included perceiving both male and female adult support (OR 0.55 and 0.47, respectively), having a higher sense of community belonging (OR 0.91, 0.32-0.95) and having positive perceptions of their neighborhood's physical environment (OR 0.93, 0.88-0.98). These results suggest that strengthening family and neighborhood relations and resources may promote the health of adolescents in disadvantaged urban areas.


Asunto(s)
Inseguridad Alimentaria , Abastecimiento de Alimentos , Adolescente , Adulto , Baltimore/epidemiología , Estudios Transversales , Composición Familiar , Femenino , Humanos , Masculino , Factores Protectores , Factores Socioeconómicos
9.
Prenat Diagn ; 39(2): 70-80, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30625249

RESUMEN

Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling. The discussion should include the possibility of an absence of a result, as well as the risk of possible discordance between cfDNA screening results and the actual fetal genetic chromosomal constitution. The goal of this review is to provide an overview of the cfDNA testing technologies for 22q11.2 microdeletions screening, describe the current state of test validation and clinical experience, review "no results" and discordant findings based on differing technologies, and discuss management options.


Asunto(s)
Síndrome de Deleción 22q11/diagnóstico , Ácidos Nucleicos Libres de Células/análisis , Pruebas Genéticas/métodos , Síndrome de Deleción 22q11/sangre , Síndrome de Deleción 22q11/genética , Aneuploidia , Ácidos Nucleicos Libres de Células/sangre , Deleción Cromosómica , Síndrome de DiGeorge/diagnóstico , Síndrome de Down/diagnóstico , Femenino , Pruebas Genéticas/normas , Humanos , Embarazo , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/normas
10.
Public Health Nutr ; 22(12): 2260-2267, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31124764

RESUMEN

OBJECTIVE: To increase our understanding about food insecurity among urban adolescents, we conducted a qualitative study in Baltimore City with adolescents to: (i) explore how adolescents experience and cope with food insecurity; and (ii) identify community-based approaches or interventions for addressing food insecurity. DESIGN: A total of eight focus groups were conducted across six neighbourhoods. To gather sociodemographic characteristics and personal data on food insecurity, all consented adolescents completed a brief questionnaire. SETTING: Six purposively selected neighbourhoods in Baltimore City, USA. PARTICIPANTS: A total of fifty-three adolescents between the ages of 14 and 19 years participated in the study. RESULTS: Although half of our sample was classified as food insecure, everyone in the focus groups was aware of adolescents who engaged in risky behaviours to get money for food. Among girls, prostituting was the most commonly mentioned behaviour, whereas for boys, it was selling drugs or stealing to get money for food. Adolescents also described tremendous stigma associated with food insecurity and agreed that food insecurity has to be viewed within a broader set of economic challenges. CONCLUSIONS: Addressing food insecurity among adolescents in disadvantaged neighbourhoods should be a high priority for policy makers and practitioners. Current feeding programmes are not addressing the needs of adolescents; as a result, adolescents are at risk for a variety of harmful behaviours and outcomes, with long-term negative health and social consequences.


Asunto(s)
Adaptación Psicológica , Conducta Alimentaria/psicología , Abastecimiento de Alimentos , Población Urbana/estadística & datos numéricos , Poblaciones Vulnerables/psicología , Adolescente , Conducta del Adolescente/psicología , Baltimore , Tráfico de Drogas/economía , Tráfico de Drogas/psicología , Femenino , Grupos Focales , Humanos , Masculino , Pobreza/psicología , Investigación Cualitativa , Asunción de Riesgos , Trabajo Sexual/psicología , Estigma Social , Factores Socioeconómicos , Adulto Joven
11.
Matern Child Health J ; 22(6): 794-802, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29417365

RESUMEN

OBJECTIVE: This pilot study evaluated a cost neutral, integrated Special Supplemental Nutrition Program for Women Infants and Children (WIC) and obstetrical service model designed to prevent postpartum weight retention in obese women. METHODS: A sample of women who received benefits from the Johns Hopkins (JH) WIC program and prenatal care from the JH Nutrition in Pregnancy Clinic, which provides obstetrical care for women with a BMI ≥ 30 kg/m2, participated in the WICNIP randomized clinical trial. Intervention participants received enhanced nutrition services and education at five visits and during one phone call between delivery and 6 months postpartum. Control participants received standard WIC services. Weight data was collected for all participants at multiple time points: pre-pregnancy, delivery, and postpartum at 4, 6 weeks, 4, and 6 months. Maternal socio-demographic factors, obesity class and the number of education contacts received were also recorded. RESULTS: Fifty-three African-American women were randomized into the intervention and control groups. Intervention participants retained significantly less gestational weight gain than control participants (3.0 ± 11.8 vs. 12.6 ± 20.4, p < 0.05). In both groups, participants with Class III obesity retained significantly less weight than participants in Classes I and II (p = 0.02). CONCLUSIONS FOR PRACTICE: An integrated WIC and obstetrical service model is feasible and can limit postpartum weight retention in obese women. Weight retention at 6 months postpartum between intervention and control participants was statistically significant. Further research should explore targeted interventions by obesity class to address weight retention for low-income, African American women who participate in WIC.


Asunto(s)
Asistencia Alimentaria , Ganancia de Peso Gestacional , Obesidad , Atención Prenatal , Niño , Prestación Integrada de Atención de Salud , Estudios de Factibilidad , Femenino , Humanos , Lactante , Proyectos Piloto , Periodo Posparto , Pobreza , Embarazo
12.
Annu Rev Genomics Hum Genet ; 15: 327-47, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24849140

RESUMEN

Noninvasive prenatal screening (NIPS) has emerged as a highly accurate method of screening for fetal Down syndrome, with a detection rate and specificity approaching 100%. Challenging the widespread use of this technology are cost and the paradigm shift in counseling that accompanies any emerging technology. The expense of the test is expected to decrease with increased utilization, and well beyond the current NIPS technology, its components (fetal genome measurements, sequencing technology, and bioinformatics) will be utilized alone or in combinations to interrogate the fetal genome. The end goal is simple: to offer patients information early in pregnancy about fetal genomes without incurring procedural risks. This will allow patients an opportunity to make informed reproductive and pregnancy management decisions based on precise fetal genomic information.


Asunto(s)
Síndrome de Down/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Diagnóstico Prenatal , Aneuploidia , ADN/genética , Síndrome de Down/genética , Femenino , Feto , Asesoramiento Genético , Humanos , Embarazo
13.
Prenat Diagn ; 37(10): 1017-1027, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28801976

RESUMEN

OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the (1) false positive/negative rates of cfDNA testing consequent to fetoplacental mosaicism for any sex chromosome aneuploidies (SCA) and (2) positive predictive value (PPV) and negative predictive values of a high-risk and low-risk cfDNA result for any SCA. METHOD: This is a retrospective analysis of 67 030 chorionic villus sampling karyotypes, including fetoplacental mosaicism cases. RESULTS: Non-mosaic 45, X is associated with cystic hygroma/increased nuchal translucency and fetal anomalies. The false positive rate consequent to confined placental mosaicism is predicted to be 0.05%. The estimated false negative rate is in the range of 0% to 5.7% for all non-mosaic SCAs; it is 70% for mosaic 45, X with normal ultrasound. The predicted PPV on amniocytes is very high for most SCAs (94.4-99.4%). However, the stratified analysis shows that the PPV is much lower for 45, X without ultrasound anomalies compared with 45, X with abnormal scan (51% or 71%, vs 99%, respectively). CONCLUSION: Mosaicism is a major issue for SCA cfDNA testing, and prenatal confirmation, preferentially with amniocentesis if there are no ultrasound anomalies, remains important in counseling. As PPV varies on the basis of the presence of an ultrasound anomaly, skilled evaluation is critical. © 2017 John Wiley & Sons, Ltd.


Asunto(s)
Aneuploidia , Ácidos Nucleicos Libres de Células/sangre , Cromosomas Humanos X/genética , Mosaicismo/embriología , Amniocentesis , Muestra de la Vellosidad Coriónica , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/genética , Reacciones Falso Negativas , Femenino , Feto , Humanos , Cariotipificación , Linfangioma Quístico/genética , Medida de Translucencia Nucal , Placenta , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal
14.
Am J Obstet Gynecol ; 215(6): 777.e1-777.e4, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27530492

RESUMEN

BACKGROUND: More than a decade ago, researchers described a survey of Maternal Fetal Medicine fellows that showed that chorionic villus sampling training was limited for Maternal Fetal Medicine fellows in the United States. Prenatal screening and diagnosis have rapidly evolved since then and include the introduction of noninvasive aneuploidy screening that uses cell-free fetal DNA. Yet, chorionic villus sampling remains the only method available for first-trimester genetic diagnosis. OBJECTIVE: This study evaluated the chorionic villus sampling training of Maternal Fetal Medicine fellows with respect to availability, competency standards, and education methods. STUDY DESIGN: In November 2015, an electronic survey was sent to Maternal Fetal Medicine fellows and fellowship directors of accredited Maternal Fetal Medicine fellowship programs in the United States. RESULTS: Fifty-eight percent of fellows (179/310) and 46% of program directors (35/76) responded. Ninety-five percent of Maternal Fetal Medicine fellows think that invasive diagnostic testing is essential to their training; 100% of fellows have amniocentesis training; and 65% have chorionic villus sampling training. The median number of chorionic villus sampling procedures that are expected during a fellowship in those who trained was 10. Eighty-eight percent of fellows and 89% of program directors state that chorionic villus sampling training could be better; 89% of fellows and 97% of directors would like access to simulated models. Barriers to training included lack of patients (71%) and lack of proficient attending supervisors (43%). CONCLUSION: Since the last survey, >10 years ago, chorionic villus sampling training has declined further. A decrease in the number of procedures that are performed is the leading barrier to this training.


Asunto(s)
Muestra de la Vellosidad Coriónica , Obstetricia/educación , Perinatología/educación , Becas , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo , Diagnóstico Prenatal , Encuestas y Cuestionarios , Estados Unidos
16.
Prenat Diagn ; 36(12): 1146-1155, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27770451

RESUMEN

OBJECTIVES: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result. METHODS: Fetal karyotypes from samples without prior risk assessment or ultrasound anomalies were analyzed. We calculated, per single-year MA and in two GA intervals, the predicted frequency of each cytogenetic defect. RESULTS: A total of 129 263 karyotypes were analyzed. The risk for significant, cytogenetically visible chromosomal anomalies, at 15 to 20 weeks GA, varies between 1/301 at MA of 18 years, and 1/9 at MA of 48 years. The proportion of clinically significant anomalies not addressed by current screening methods is 47% at MA of 18 years and 5% at MA of 48 years. CONCLUSIONS: By determining frequencies for individual karyotype anomalies stratified by MA and GA, in the setting of normal-appearing fetuses, a more personalized risk assessment, including the residual risk after a normal fetal aneuploidy screening result, can be provided. © 2016 John Wiley & Sons, Ltd.


Asunto(s)
Trastornos de los Cromosomas/epidemiología , Edad Gestacional , Edad Materna , Adolescente , Adulto , Amniocentesis , Muestra de la Vellosidad Coriónica , ADN/análisis , Femenino , Humanos , Cariotipificación , Modelos Logísticos , Persona de Mediana Edad , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Diagnóstico Prenatal , Medición de Riesgo , Ultrasonografía Prenatal , Adulto Joven
17.
Matern Child Health J ; 20(8): 1735-44, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-26994607

RESUMEN

Objectives Participation in the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) has been associated with lower breastfeeding initiation and duration. This study examines breastfeeding-related factors among WIC participants and nonparticipants that might explain these previous findings. Methods Respondents to the 2007 Infant Feeding Practices Study II who were income-eligible for WIC were categorized as follows: no WIC participation (No-WIC); prenatal participation and infant entry while ≥60 % breastfeeding (WIC BF-high); prenatal participation and infant entry while <60 % breastfeeding (WIC BF-low). Percent breastfeeding was the number of breast milk feeds divided by the total number of liquid feeds. Using propensity scores, we matched WIC BF-high respondents to No-WIC respondents on demographic and breastfeeding factors. We used logistic regression to estimate the impact of WIC participation on breastfeeding at 3 months postpartum in the matched sample. Within-WIC differences were explored. Results Of 743 income-eligible respondents, 293 never enrolled in WIC, 230 were categorized as WIC BF-high, and 220 as WIC BF-low. Compared to matched No-WIC respondents, WIC BF-high respondents had increased odds of breastfeeding at 3 months, though this difference was not statistically significant (OR 1.92; 95 % CI 0.95-3.67; p value 0.07). WIC BF-high respondents were more similar on breastfeeding-related characteristics to No-WIC respondents than to WIC BF-low respondents. Conclusions for Practice Accounting for prenatal breastfeeding intentions and attitudes, we find no negative association between WIC participation and breastfeeding at 3 months postpartum. This is in contrast to prior studies, and highlights the importance of understanding within-WIC differences.


Asunto(s)
Lactancia Materna/estadística & datos numéricos , Asistencia Alimentaria , Promoción de la Salud/métodos , Pobreza , Adolescente , Adulto , Lactancia Materna/psicología , Femenino , Humanos , Lactante , Cuidado del Lactante , Recién Nacido , Modelos Logísticos , Estudios Longitudinales , Madres , Periodo Posparto , Encuestas y Cuestionarios , Estados Unidos , Adulto Joven
18.
Fetal Diagn Ther ; 40(3): 219-223, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27028530

RESUMEN

OBJECTIVE: To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS: Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 trisomy 18, 15 trisomy 13, 9 monosomy X, 4 triploidy and 338 euploid). Sensitivity, specificity and no-call rate were calculated, and a fetal-fraction adjustment was applied to enable projection of these values in a commercial distribution. Likelihood of success of a second blood draw was computed based on fetal fraction and maternal weight from the first draw. RESULTS: Validation of this methodology yielded high sensitivities (≥99.4%) and specificities (100%) for all conditions tested with an observed no-call rate of 2.3%. The no-call threshold for sample calling was reduced to 2.8% fetal fraction. The redraw success rate was driven by higher initial fetal fractions and lower maternal weights, with the fetal fraction being the more significant variable. CONCLUSIONS: The enhanced version of this SNP-based NIPT method showed a reduced no-call rate and a reduced fetal-fraction threshold for sample calling in comparison to the earlier version, while maintaining high sensitivity and specificity.


Asunto(s)
Aneuploidia , Pruebas Genéticas/métodos , Pruebas de Detección del Suero Materno/métodos , Adulto , Femenino , Edad Gestacional , Humanos , Polimorfismo de Nucleótido Simple , Embarazo
19.
Am J Obstet Gynecol ; 212(1): 79.e1-9, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25447960

RESUMEN

OBJECTIVE: We sought to determine the ability of single-nucleotide polymorphism-based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. STUDY DESIGN: The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. RESULTS: Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. CONCLUSION: This single-nucleotide polymorphism-based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls.


Asunto(s)
Reabsorción del Feto/diagnóstico , Reabsorción del Feto/genética , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/genética , Polimorfismo de Nucleótido Simple , Embarazo Gemelar/genética , Diagnóstico Prenatal/métodos , Triploidía , Adolescente , Adulto , Femenino , Humanos , Persona de Mediana Edad , Embarazo , Adulto Joven
20.
Am J Obstet Gynecol ; 212(3): 332.e1-9, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25479548

RESUMEN

OBJECTIVE: The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. STUDY DESIGN: Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region. RESULTS: Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False-positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422). CONCLUSION: SNP-based noninvasive prenatal microdeletion screening is highly accurate. Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population should be considered.


Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/diagnóstico , Pruebas Genéticas/métodos , Pruebas de Detección del Suero Materno , Polimorfismo de Nucleótido Simple , Algoritmos , Trastornos de los Cromosomas/genética , Reacciones Falso Positivas , Femenino , Humanos , Reacción en Cadena de la Polimerasa Multiplex , Valor Predictivo de las Pruebas , Embarazo , Reproducibilidad de los Resultados , Análisis de Secuencia de ADN , Síndrome
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