RESUMEN
BACKGROUND: The prevalence of ventricular septal defects (VSDs), a birth defect in which there is an opening in the wall that separates the left and right ventricles of the heart, seemed to be substantially higher in Delaware compared with the National Birth Defects Prevention Network (NBDPN). The Delaware Birth Defects Registry (BDR) noted their high prevalence of VSDs in comparison with other states. METHODS: A subset of children with a VSD born in 2007 through 2010 was identified from the complete reportable statewide defect list that the BDR creates each year. VSDs were categorized by type of VSD (muscular, perimembranous, conotruncal, or atrioventricular septal defect), by either isolated or complex, and then by spontaneously closed, surgically closed, open but clinically insignificant, lost to follow-up, fetal or neonatal death. RESULTS: The BDR team found a prevalence of VSD of 83.4 per 10,000 including fetal/neonatal deaths. Excluding fetal and neonatal deaths the prevalence was 78.7 per 10,000 live births. Excluding small muscular VSDs, the prevalence in Delaware falls to 25.7 per 10,000. CONCLUSION: The BDR team chose to include all babies with all types of VSDs. Using these criteria Delaware's prevalence of 78.7 was higher than that reported by other states (whose prevalence ranges from 1.6 to 70.0 per 10,000 live births) (National Birth Defects Prevention Network, ). Delaware's prevalence is similar to other states when small muscular VSDs are excluded. Birth Defects Research (Part A) 106:888-893, 2016. © 2016 Wiley Periodicals, Inc.
Asunto(s)
Muerte Fetal , Defectos del Tabique Interventricular/epidemiología , Sistema de Registros , Delaware/epidemiología , Humanos , Recién Nacido , Prevalencia , Estudios RetrospectivosRESUMEN
IMPORTANCE: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births. OBJECTIVES: To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN: Epidemiological and retrospective observational study. SETTING: Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES: Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS: Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia. CONCLUSIONS AND RELEVANCE: Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.
Asunto(s)
Linfopenia/diagnóstico , Tamizaje Neonatal/métodos , Inmunodeficiencia Combinada Grave/diagnóstico , Inmunodeficiencia Combinada Grave/epidemiología , Femenino , Humanos , Incidencia , Recién Nacido , Masculino , Pronóstico , Receptores de Antígenos de Linfocitos T/genética , Estudios Retrospectivos , Inmunodeficiencia Combinada Grave/terapia , Análisis de Supervivencia , Linfocitos T/inmunología , Estados UnidosRESUMEN
OBJECTIVE: Although common in preterm infants, transient hypothyroxinemia (TH) has not been investigated extensively in ill term infants. The objectives of this study were to investigate serum thyroxine (T4) and thyroid-stimulating hormone (TSH) in sick term infants and to determine whether there is any association between measures of thyroid function and short-term outcome in term infants who receive mechanical ventilation. METHODS: The investigation consisted of both a prospective observational study and a retrospective cohort study. In the prospective study, T4 and TSH were measured after birth in a group of sick term infants (n = 38) and compared with a group of well term infants (n = 18). Infants in the sick group received mechanical ventilation or continuous positive airway pressure and/or had neonatal seizures. Illness severity was quantified using the Score for Neonatal Acute Physiology. The retrospective cohort study included term infants who required mechanical ventilation and were born over a 5-year period (n = 347). Routine T4 screening was collected on the fifth day of life. TH was diagnosed in infants with a T4 <10%, with a TSH <25 microIU/mL. Clinical outcomes in infants with TH were compared with infants without TH. RESULTS: In the prospective study, infants in the sick group had lower T4 on the fifth day of life as compared with infants in the well group (11.7 +/- 4.9 vs 18.9 +/- 5.4 microg/dL), and 34% of infants in the sick group had a T4 <10th percentile compared with 6% of infants in the well group. T4 on day of life 5 was inversely correlated with Score for Neonatal Acute Physiology (R = -0.52). In the retrospective study, 21% of mechanically ventilated infants developed TH and were given statistically more inhaled nitric oxide, high-frequency ventilation, vasopressors, and pharmacologic paralysis when compared with infants without TH. Moreover, infants with TH were statistically more likely to die or require transfer to an extracorporeal membrane oxygenation center compared with infants without TH. CONCLUSION: Our data show that, similar to preterm infants, ill term infants develop TH. Term infants with TH required more intensive rescue interventions, including inhaled nitric oxide and transfer to an extracorporeal membrane oxygenation center. However, whether T4 levels are a marker or a mediator of clinical outcome remains to be determined.
Asunto(s)
Enfermedades del Recién Nacido/sangre , Respiración Artificial , Tirotropina/sangre , Tiroxina/sangre , Presión de las Vías Aéreas Positiva Contínua , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/terapia , Masculino , Estudios Prospectivos , Estudios Retrospectivos , Índice de Severidad de la EnfermedadRESUMEN
Newborn screening for metabolic, hematologic, and endocrinologic disorders is a well-established public health function. Recent technological advances have made screening possible for more disorders. For many of these disorders, there is evidence that screening is effective; however, some of these disorders are rare, and their response to therapy and their natural history are not completely understood. A number of states have instituted "expanded" newborn screening utilizing a combination of established and new technologies. Other states, including Delaware, have studied the experiences of the states doing expanded screening and have decided to proceed with expanded screening as well. Since early 2003, Delaware has been screening newborns for about 25 disorders, including amino acidopathies, organic acidurias, fatty acid oxidation disorders, hemoglobinopathies, and endocrinopathies.