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1.
J Genet Couns ; 25(1): 73-8, 2016 Feb.
Article En | MEDLINE | ID: mdl-25925607

Using cell-free DNA in maternal serum to detect fetal aneuploidy has been shown to have high sensitivity and specificity. The purpose of this study was to assess attitudes and knowledge of Maternal-Fetal Medicine (MFM) fellows regarding noninvasive prenatal testing (NIPT). A 13 question survey was sent via listserv to US-based MFM fellows. One hundred sixteen fellows responded, a 42.3% response rate, with >75% reporting they are comfortable ordering NIPT. Most (82%) preferred that a patient discuss options with a provider or genetic counselor. Three common methods used to learn about NIPT were: formal educational activities (n = 78, 69%), self-review of the literature (n = 76, 67%), and discussions with peers (n = 73, 65%). On questions related to trisomy 21, accuracy was >70%. However, accuracy was lower regarding use in twin pregnancies (42%) and monosomy X screening (50%).


Attitude of Health Personnel , Maternal Serum Screening Tests , Prenatal Diagnosis/methods , Adult , Aneuploidy , Female , Genetic Testing/methods , Humans , Middle Aged , Risk Assessment
2.
Am J Emerg Med ; 32(7): 812.e5-7, 2014 Jul.
Article En | MEDLINE | ID: mdl-24468122

Cardiac causes of chest pain in children are rare; however, they continue to account for 1% to 6% of all cases dependent on the practice setting and patient history. Here we describe the case of a 12-year old with fibromuscular dysplasia that died from an acute myocardial infarction. Although this specific etiology is uncommon, the case illustrates the need for broad differentials when treating children with chest pain in the emergency medicine environment. In particular, even if the specific diagnosis cannot be readily made in the prehospital or emergency department (ED) setting, the possibility of cardiac disease should be considered.


Fibromuscular Dysplasia/complications , Myocardial Infarction/etiology , Child , Fatal Outcome , Humans , Male
3.
Am J Perinatol ; 31(2): 91-8, 2014 Feb.
Article En | MEDLINE | ID: mdl-23508703

OBJECTIVE: To assess the evidence available on the use of vitamin C supplementation greater than recommended dietary intake to reduce preterm birth rates. STUDY DESIGN: Systematic review of randomized controlled trials using vitamin C alone or with one other supplement other than iron. Trials must report preterm birth rates but can have other primary outcomes. Preterm birth is defined as birth at less than 37 weeks' gestational age for this review. Review focused on studies with populations representative of Organization for Economic Co-operation and Development countries. RESULTS: Inadequate level of evidence on the use of vitamin C alone to prevent preterm birth rates in low-risk populations based on one study. Three studies provided convincing evidence of no benefit in low-risk groups of use of vitamins C and E combined. Three studies provided adequate evidence of no benefit in high-risk groups of use of vitamins C and E combined. CONCLUSION: The available evidence supports no benefit gained from using vitamin C to prevent preterm birth. Evidence does not support limiting use of vitamin C supplementation for other indications.


Antioxidants/therapeutic use , Ascorbic Acid/therapeutic use , Dietary Supplements , Premature Birth/prevention & control , Drug Therapy, Combination , Female , Fetal Membranes, Premature Rupture/prevention & control , Humans , Pregnancy , Randomized Controlled Trials as Topic , Vitamin E/therapeutic use
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