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1.
Am J Perinatol ; 41(4): 383-394, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38154468

RESUMO

OBJECTIVE: Congenital birth defects affect 3 to 5% of pregnancies. Genetic counseling can help patients navigate the testing process and understand results. The study objective was to identify predictors and utility of genetic counseling at the time of pregnancy termination. Additionally, we aimed to see what proportion of patients would benefit from additional testing based on the results of the genetic testing. STUDY DESIGN: This was a retrospective cohort review of all terminations performed for fetal anomalies by an academic center from July 2016 to May 2020. Indications were stratified by abnormal serum screening or types of abnormal ultrasound findings. Data were abstracted regarding uptake of genetic counseling and testing results. Abnormal results that warranted additional testing regarding recurrence risks were noted. Multivariable logistic regression was performed to identify predictors of receipt of genetic counseling and testing. RESULTS: Of 387 patients, 57% (n = 220) received preprocedure genetic counseling and 43% (n = 167) did not. Among patients who received diagnostic testing, 62% (n = 194) had genetic counseling compared with 38% (n = 121) without counseling (adjusted odds ratio 2.46, 95% confidence interval [1.41-4.29], p < 0.001). Among the entire cohort, 38% (n = 148) had suspected aneuploidy based on serum screening. Of these, 89% (n = 132/148) had definitive testing, 92% (n = 122/132) confirming the aneuploidy. Among the other 68% (n = 239) with structural anomalies, 76% (n = 183) had diagnostic testing with 29% (n = 53) yielding an abnormal result. Among those fetuses with structural anomalies, 36% (n = 19/53) of genetic diagnoses warranted additional parental testing because of risk of recurrence compared with only 2% (n = 2/122) of patients with abnormal serum screening results alone. CONCLUSION: Genetic counseling was associated with increased uptake of diagnostic testing, which yielded useful information and prompted additional testing. This is important for determining etiology and recurrence risk and should be offered to patients presenting for termination for fetal indications, as well as providing diagnostic closure for patients. KEY POINTS: · Genetic counseling increases the uptake of diagnostic testing in patients with fetal anomalies.. · Patients with ultrasound anomalies received less diagnostic testing despite actionable results 36% of the time.. · Genetic testing is invaluable for recurrence risk counseling even if patients chose to terminate..


Assuntos
Aconselhamento Genético , Testes Genéticos , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Aneuploidia , Feto/anormalidades , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal/métodos
2.
Am J Perinatol ; 37(13): 1301-1309, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32892329

RESUMO

OBJECTIVE: This study aimed to describe the response of labor and delivery (L&D) units in the United States to the novel coronavirus disease 2019 (COVID-19) pandemic and determine how institutional characteristics and regional disease prevalence affect viral testing and personal protective equipment (PPE). STUDY DESIGN: A cross-sectional survey was distributed electronically through the Society for Maternal-Fetal Medicine e-mail database (n = 584 distinct practices) and social media between April 14 and 23, 2020. Participants were recruited through "snowballing." A single representative was asked to respond on behalf of each L&D unit. Data were analyzed using Chi-square and Fisher's exact tests. Multivariable regression was performed to explore characteristics associated with universal testing and PPE usage. RESULTS: A total of 301 surveys (estimated 51.5% response rate) was analyzed representing 48 states and two territories. Obstetrical units included academic (31%), community teaching (45%) and nonteaching hospitals (24%). Sixteen percent of respondents were from states with high prevalence, defined as higher "deaths per million" rates compared with the national average. Universal laboratory testing for admissions was reported for 40% (119/297) of units. After adjusting for covariates, universal testing was more common in academic institutions (adjusted odds ratio [aOR] = 1.73, 95% confidence interval [CI]: 1.23-2.42) and high prevalence states (aOR = 2.68, 95% CI: 1.37-5.28). When delivering asymptomatic patients, full PPE (including N95 mask) was recommended for vaginal deliveries in 33% and for cesarean delivery in 38% of responding institutions. N95 mask use during asymptomatic vaginal deliveries remained more likely in high prevalence states (aOR = 2.56, 95% CI: 1.29-5.09) and less likely in hospitals with universal testing (aOR = 0.42, 95% CI: 0.24-0.73). CONCLUSION: Universal laboratory testing for COVID-19 is more common at academic institutions and in states with high disease prevalence. Centers with universal testing were less likely to recommend N95 masks for asymptomatic vaginal deliveries, suggesting that viral testing can play a role in guiding efficient PPE use. KEY POINTS: · Heterogeneity is seen in institutional recommendations for viral testing and PPE.. · Universal laboratory testing for COVID-19 is more common at academic centers.. · N95 mask use during vaginal deliveries is less likely in places with universal testing..


Assuntos
Infecções por Coronavirus , Parto Obstétrico , Controle de Infecções , Unidade Hospitalar de Ginecologia e Obstetrícia , Pandemias , Equipamento de Proteção Individual/estatística & dados numéricos , Pneumonia Viral , Complicações Infecciosas na Gravidez , Adulto , Betacoronavirus , COVID-19 , Teste para COVID-19 , Técnicas de Laboratório Clínico/métodos , Técnicas de Laboratório Clínico/estatística & dados numéricos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Estudos Transversais , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Feminino , Humanos , Controle de Infecções/instrumentação , Controle de Infecções/métodos , Controle de Infecções/organização & administração , Masculino , Máscaras/estatística & dados numéricos , Unidade Hospitalar de Ginecologia e Obstetrícia/organização & administração , Unidade Hospitalar de Ginecologia e Obstetrícia/normas , Unidade Hospitalar de Ginecologia e Obstetrícia/estatística & dados numéricos , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/prevenção & controle , Prevalência , SARS-CoV-2 , Estados Unidos/epidemiologia
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