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"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2018/09/25

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[Anesthesia in patients with NBIA : Neurodegeneration with brain iron accumulation].

Anaesthesist. 2018 Sep 20;:

Authors: Warnecke T, Schmitz J, Kerkhoff S, Hinkelbein J

Abstract
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) forms a group of rare hereditary diseases with rapid neurodegenerative progression due to an abnormal accumulation of iron in the basal ganglia. This causes extrapyramidal symptoms as well as dystonia and mental retardation. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). There are multiple anesthesiological challenges with great implications for the clinical routine, particularly regarding the preparation for general anesthesia and the premedication visits. As with other orphan diseases, the available recommendations are mainly based on case reports.
OBJECTIVE AND METHODS: This article gives a short overview of complications associated with NBIA pertaining to general anesthesia. This includes anesthesia-relevant clinical symptoms and perioperative management. The published literature and case reports (available on PubMed) were reviewed to extract a set of recommendations.
RESULTS: So far only a few reports have included the anesthesia management of NBIA patients. Most of them refer to PKAN as the predominant type (50% of cases). Recommendations were found on www.orphananesthesia.eu and consensus guidelines on PKAN in general. In particular, dystonia-related restrictions in the maxillofacial area can complicate airway management and cause difficulties with respect to intubation. Furthermore, local or regional anesthesia as the sole anesthesia technique is not eligible/viable due to the reduced compliance of the patient. Special attention should be paid to a timely premedication visit and evaluation to ensure sufficient time to safely plan and prepare the anesthetic procedure.
CONCLUSION: The handling of NBIA patients requires good preparation, including an interdisciplinary team and customized time management. In principle, both general anesthesia as a balanced method and total intravenous anesthesia (TIVA) seem to be possible/viable options. The main focus is on airway management. Even after brief sedation in the context of diagnostic measures, the patient should be monitored for longer than usual.

PMID: 30238129 [PubMed - as supplied by publisher]

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.

JCI Insight. 2018 Sep 20;3(18):

Authors: Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS

Abstract
Zebrafish are a powerful tool for studying muscle function owing to their high numbers of offspring, low maintenance costs, evolutionarily conserved muscle functions, and the ability to rapidly take up small molecular compounds during early larval stages. Fukutin-related protein (FKRP) is a putative protein glycosyltransferase that functions in the Golgi apparatus to modify sugar chain molecules of newly translated proteins. Patients with mutations in the FKRP gene can have a wide spectrum of clinical symptoms with varying muscle, eye, and brain pathologies depending on the location of the mutation in the FKRP protein. Patients with a common L276I FKRP mutation have mild adult-onset muscle degeneration known as limb-girdle muscular dystrophy 2I (LGMD2I), whereas patients with more C-terminal pathogenic mutations develop the severe Walker-Warburg syndrome (WWS)/muscle-eye-brain (MEB) disease. We generated fkrp-mutant zebrafish that phenocopy WWS/MEB pathologies including severe muscle breakdowns, head malformations, and early lethality. We have also generated a milder LGMD2I-model zebrafish via overexpression of a heat shock-inducible human FKRP (L276I) transgene that shows milder muscle pathology. Screening of an FDA-approved drug compound library in the LGMD2I zebrafish revealed a strong propensity towards steroids, antibacterials, and calcium regulators in ameliorating FKRP-dependent pathologies. Together, these studies demonstrate the utility of the zebrafish to both study human-specific FKRP mutations and perform compound library screenings for corrective drug compounds to treat muscular dystrophies.

PMID: 30232282 [PubMed - as supplied by publisher]

Case report: two cases of extremely rare primary pure squamous cell carcinoma of the breast.

Medicine (Baltimore). 2018 Sep;97(37):e12340

Authors: Yoneto T, Hasumi K, Yoshimoto T, Takahashi N, Takeda Y

Abstract
RATIONALE: Since primary pure squamous cell carcinoma of the breast is a rare disease, few reports describe the characteristic findings on performing preoperative imaging that can be used to distinguish it from normal breast cancer. The rapid evolution and lack of an established method of treatment has resulted in several reports of advanced cases of primary pure squamous cell carcinoma of the breast.
PATIENT CONCERNS: Case 1 was a 44-year-old woman with an elastic, hard tumor in the left C region. Ultrasonographic analysis revealed a maximal 11-mm hypoechoic area. Histologically, the tumor was a well-differentiated squamous cell carcinoma with prominent keratinization, and there was prominent inflammatory cell infiltration, necrosis, and fibrosis. Case 2 was a 58-year-old woman with an elastic, hard tumor in the left C/D region. Ultrasonographic analysis revealed a maximal 31-mm hypoechoic area with partially calcified areas and a hyperechoic margin. Histologically, the tumor was a squamous cell carcinoma with prominent keratinization exhibiting an infiltrative growth pattern. The tumor had no connection to the epidermis and partially transitioned into the atypical ductal epithelium in the area surrounding the focus.
DIAGNOSES: The patient in Case 1 was preoperatively diagnosed with T1cN0M0 Stage I cancer of the left breast, but both patients were finally diagnosed with T2N0M0 Stage IIA cancer.
INTERVENTIONS: Case 1: left partial mastectomy and axillary lymph node dissection were performed. The patient was administered 4 courses of FEC100 and 4 courses of DTX as postoperative adjuvant therapy. Case 2: left modified radical mastectomy and axillary lymph node dissection were performed without any postoperative adjuvant therapy.
OUTCOMES: Case 1: no sign of relapse was observed, but the patient moved away from the area to another hospital in March 2014 and eventually died due to relapse in January 2016. Case 2: four years after surgery, no relapse has been observed.
LESSONS: We should always keep the presence of primary pure squamous cell carcinoma among breast cancers in mind although the crisis rate is very low. Due to its high malignancy, needle biopsy and aspiration biopsy cytology should be performed to make a definitive diagnosis.

PMID: 30212985 [PubMed - indexed for MEDLINE]

Desmoplastic small round cell tumor: A nationwide study of a rare sarcoma.

J Surg Oncol. 2018 Jun;117(8):1759-1767

Authors: Stiles ZE, Dickson PV, Glazer ES, Murphy AJ, Davidoff AM, Behrman SW, Bishop MW, Martin MG, Deneve JL

Abstract
BACKGROUND AND OBJECTIVES: Desmoplastic small round cell tumor (DSRCT) is a rare peritoneal surface malignancy. Current research is limited by the scarcity of this disease.
METHODS: Patients with DSRCT were identified in the 2004-2014 NCDB. Factors affecting overall survival (OS) were assessed. Additionally, trends were examined based on the volume of cases treated at individual facilities.
RESULTS: A total of 125 patients were identified with a median age of 21 (IQR 15-27). Six had extra-abdominal disease and 15 (12%) had liver involvement. Median OS was 28 months. Systemic chemotherapy (HR 0.4, P = 0.015) and surgery (HR 0.6, P = 0.047) were associated with reduced mortality. For the 74 patients undergoing surgery, absence of liver involvement and receipt of postoperative chemotherapy were associated with improved OS on univariate analysis. On multivariable analysis, two factors approached significance: adjuvant chemotherapy was associated with a reduced risk of mortality (HR 0.3, P = 0.073) and residual macroscopic disease after resection correlated with increased risk of mortality (HR 5.3, P = 0.071). High-volume facilities (≥5 cases) experienced improved OS (median 59.1 vs 28.8 months), albeit not significantly (P = 0.135), compared to low-volume centers.
CONCLUSION: Despite multimodal treatment, DSRCT is associated with dismal outcomes. Facilities familiar with treating this uncommon disease may experience superior outcomes.

PMID: 29878371 [PubMed - indexed for MEDLINE]

Isolated severe microblepharon in a neonate: a rare case.

Int Ophthalmol. 2018 Oct;38(5):2175-2178

Authors: Meel R, Devi S, Ganger A, S M, Pushker N

Abstract
PURPOSE: To report a rare case of isolated severe microblepharon in a neonate.
METHODS: A 27 days old male child was brought by parents with redness, photophobia and discharge for two weeks. Thorough ophthalmological and systemic examination was performed.
RESULTS: The diagnosis of isolated severe microblepharon with infectious keratitis was made. After the appropriate management of infectious keratitis and achieving complete resolution, the child was subjected to bilateral lid reconstruction was done in the form of upper lid skin grafting and tarsorrhaphy and the patient is being followed up.
CONCLUSION: A rare case of bilateral isolated severe microblepharon affecting all four eyelids is being reported. Urgent surgical intervention is recommended in such cases in order to achieve good corneal coverage which results in faster healing of infective keratitis and a good visual outcome.

PMID: 28803395 [PubMed - indexed for MEDLINE]

Inflammatory myofibroblastic tumor of the lung.

Adv Respir Med. 2018;86(1):27-35

Authors: Khatri A, Agrawal A, Sikachi RR, Mehta D, Sahni S, Meena N

Abstract
Inflammatory myofibroblastic tumors (IMT) of the lung, first reported in 1939, are considered a subset of inflammatory pseudo -tumors. They are a distinctive lesions composed of myofibroblastic spindle cells accompanied by an inflammatory infiltrate of plasma cells, lymphocytes, and eosinophils. IMTs may be benign, invade surrounding structures, undergo malignant transformation, recur or may even metastasize. They can occur due to a genetic mutation or can occur secondary to infectious or autoimmune diseases. Patients may be asymptomatic, or present with cough, hemoptysis, dyspnea, pleuritic pain, constitutional symptoms or pneumonia. In this article we review the pathophysiology, genetics, clinical presentation, imaging findings of IMT of the lung. We also discuss the various surgical and non-surgical treatment options and the prognosis associated with this disease.

PMID: 29490419 [PubMed - indexed for MEDLINE]

A Rare Case of Misdiagnosis: Recurrence of Dermatofibrosarcoma Protuberans That Was Treated Surgicallyas a Keloid.

Med Arch. 2018 Feb;72(1):74-75

Authors: Ucak M

Abstract
Aim: In this report, we presented the patient with Dermatofibrosarcoma Protuberans (DFSP), removed by considering as the keloid scar in the general surgery clinic with misdiagnosis.
Case report: The patient was a 19-year-old female student with no scar or previous trauma history in the lesion area. Pathology report of excisional biopsy revealed as a DFSP, reachedsubcutis and dermis. In staging by CT, there had been no distant metastases. There was a lesion with the size of 2x1.5x1.5cm. A large resection was made to include the entire mass and the lower fascia. The defect area was repaired with a Limberg flap. There was no tumor recurrence in the first 6 months following the operation with high-level aesthetics for patient satisfaction.
Conclusion: DFSP should be remembered in cases of operative or spontaneous keloid scarring lesions. The surgical treatment is possible after extensive resection with flap or graft repair.

PMID: 29416224 [PubMed - indexed for MEDLINE]

Salivary duct carcinoma.

Curr Opin Otolaryngol Head Neck Surg. 2018 Apr;26(2):142-151

Authors: D'heygere E, Meulemans J, Vander Poorten V

Abstract
PURPOSE OF REVIEW: The review puts new information on geno- and phenotype of salivary duct carcinoma (SDC) in the perspective of the updated 2017 WHO classification.
RECENT FINDINGS: The proportion of SDC is increasing. This may be because of a true rise in incidence, but certainly to better diagnostic tests and changed WHO definitions. In this light, a substantial proportion of carcinoma expleomorphic adenoma is now attributed to the category of SDC. 'Low-grade SDC' and 'SDC in-situ' of the former WHO classification, are now named low-grade and high-grade intraductal carcinoma (IDC), respectively. Recent series quantify biologic aggressiveness: perineural growth, vascular invasion, and extracapsular extension in lymph node metastasis are each observed in two out of three patients with SDC. Most patients die within 3 years, but once 5-year disease-free survival is reached, further disease activity is exceptional. The typical molecular biological profile with high human epidermal growth factor receptor 2 and androgen receptor expression is increasingly successfully exploited in clinical trials for advanced SDC.
SUMMARY: The aggressive SDC is increasingly diagnosed. Despite intensive combined surgery and radiation therapy, many patients recur, for whom new bullets, targeting the molecular biological mechanisms, are the subject of ongoing clinical trials.

PMID: 29373327 [PubMed - indexed for MEDLINE]

The recurrent pleomorphic adenoma conundrum.

Curr Opin Otolaryngol Head Neck Surg. 2018 Apr;26(2):134-141

Authors: Bradley PJ

Abstract
PURPOSE OF REVIEW: Recurrent pleomorphic adenoma (RPA) is uncommon. Treatment selection is based on the likely possibility of minimizing the risk of tumour recurrence, avoiding local functional and cosmetic sequelae, and eradicates the possibility of metastatic or malignant transformation. Much has changed since the topic was reviewed in 2001, and this manuscript comments on clinical progress and discusses patient treatment options.
RECENT FINDINGS: Surgery is the preferred treatment for head and neck pleomorphic adenoma. Over the recent decade the surgical radicality is favoured for parotid and submandibular gland pleomorphic adenoma, from total gland and tumour removal to endoscopic or minimal open extracapsular tumour excision. Currently molecular pathology and biomarker research has not identified any evidence that separates pleomorphic adenoma from RPA, thus supporting that tumour recurrence is likely associated with surgery. Revision surgery has been reported to be frequently noncurative depending on the extent of the primary surgery, with the added risk of local cosmetic and functional sequelae. Radiotherapy as a nonsurgical modality has advanced and has been shown to be effective in controlling, if not curing, high-risk patients who have identifiable prognostic factors of developing a recurrence and patients with RPA.
SUMMARY: Current surgical management of pleomorphic adenoma is associated with improved quality of life and minimal disturbance to cosmetic and functional. The reported incidence of RPA has been reduced by 'expert surgeons' but with limited short-term follow-up following more recent surgical modifications. Patients with RPA should be offered treatment that includes surgery and/or radiotherapy and should be encouraged to partake of this decision making process.

PMID: 29278551 [PubMed - indexed for MEDLINE]

Diffuse Alveolar Hemorrhage without Extrapulmonary Manifestations: A Rare Presentation of Lupus.

Am J Case Rep. 2018 Feb 28;19:218-223

Authors: Bajantri B, Sapkota B, Venkatram S

Abstract
BACKGROUND Diffuse alveolar hemorrhage (DAH) is a life-threatening disorder resulting in hemorrhage into the lungs due to a variety of reasons. The underlying etiology for DAH is broadly divided into immune and non-immune mediated causes. Rheumatological disorders account for a small number of cases. Although hemoptysis is one of the alarming symptoms of DAH, it is absent in a third of the cases. Diagnosis often requires a conglomerate of history, clinical, and laboratory investigation and radiological studies. CASE REPORT We describe a case of a 31-year-old female who had an atypical presentation of systemic lupus erythematosus (SLE) with primary lung involvement/DAH and no other organ involvement. CONCLUSIONS This case report illustrates the importance of awareness and early recognition of the complication that can prevent mortality.

PMID: 29487279 [PubMed - indexed for MEDLINE]

A Rare Case of Cardiac Calcified Amorphous Tumor: Multi-Modality Imaging Evaluation.

Am J Case Rep. 2018 Feb 27;19:214-217

Authors: Xu F, Xiao Z, Peng L, Qin C, Yang G, Gu J, Zuo Y

Abstract
BACKGROUND Cardiac calcified amorphous tumors (CAT) are rarely presented and featured as calcification and eosinophilic amorphous material in dense collagenous fibrous tissue. CASE REPORT Our case report describes a 47-year-old man presenting cardiac CAT with only chronic cough and occasional dizziness. Preoperative multi-modality imaging was used to evaluate it and postoperative histological study was used to confirm the diagnosis. The mass was resected and the patient was fully recovered and discharged on the 7th postoperative day. In the 1-year follow-up, transthoracic echography showed no further pathological changes. CONCLUSIONS Cardiac CAT is a non-neoplastic cardiac tumor of unknown etiology. The tumor is commonly an incidental finding and the treatment of choice is complete surgical resection. In this case, we found that that multi-modality images were helpful in evaluating and diagnosing the cardiac CAT.

PMID: 29483487 [PubMed - indexed for MEDLINE]

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.

Nat Rev Genet. 2016 09 15;17(10):584

Authors: Bahcall OG

PMID: 27629930 [PubMed - indexed for MEDLINE]

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.

Rofo. 2018 Sep;190(9):825-835

Authors: Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA

Abstract
BACKGROUND:  Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities.
METHOD:  A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented. The vast spectrum of diagnostic modalities, ranging from ultrasound with color Doppler, conventional X-ray, CT with 4 D imaging and MRI as well as catheter angiography for appropriate assessment is discussed.
RESULTS:  Congenital vascular anomalies are comprised of vascular tumors, based on endothelial cell proliferation and vascular malformations with underlying mesenchymal and angiogenetic disorder. Vascular tumors tend to regress with patient's age, vascular malformations increase in size and are subdivided into capillary, venous, lymphatic, arterio-venous and combined malformations, depending on their dominant vasculature. According to their appearance, venous malformations are the most common representative of vascular anomalies (70 %), followed by lymphatic malformations (12 %), arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).
CONCLUSION:  The aim is to provide an overview of the current classification system and diagnostic characterization of vascular anomalies in order to facilitate interdisciplinary management of vascular anomalies.
KEY POINTS:   · Vascular anomalies are comprised of vascular tumors and vascular malformations, both considered to be rare diseases.. · Appropriate treatment depends on correct classification and diagnosis of vascular anomalies, which is based on established national and international classification systems, recommendations and guidelines.. · In the classification, diagnosis and treatment of congenital vascular anomalies, radiology plays an integral part in patient management..
CITATION FORMAT: · Sadick M, Müller-Wille R, Wildgruber M et al. Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies. Fortschr Röntgenstr 2018; 190: 825 - 835.

PMID: 29874693 [PubMed - indexed for MEDLINE]

Ruptured Pseudoaneurysm of the Lateral Plantar Artery After Tibiotalocalcaneal Fusion With Retrograde Nail-A Rare Complication.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):393-395

Authors: Sundararajan SR, Rajagopalakrishnan R, Rajasekaran S

Abstract
We report a rare presentation of a ruptured pseudoaneurysm of the lateral plantar artery following tibiotalocalcaneal fusion with a retrograde nail at 1 month after the index surgery. Although case reports of pseudoaneurysms of larger arteries such as the anterior tibial artery and posterior tibial artery after ankle surgery (e.g., ankle arthroscopy, implant removal, Ilizarov application) have been reported, we report a rare complication of a pseudoaneurysm of the lateral plantar artery. We discuss the anatomic considerations of the lateral plantar artery in the foot and the entry point of the retrograde nail to avoid this unusual complication.

PMID: 29273188 [PubMed - indexed for MEDLINE]

A Rare Presentation of a Giant Epidermoid Inclusion Cyst Mimicking Malignancy.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):421-426

Authors: Paparella T, Fallat L

Abstract
Epidermoid inclusion cysts, infundibular cysts, and retention cysts are dense, well-encapsulated benign soft tissue lesions that develop after a portion of the epidermis has become implanted in the dermis on a follicular surface such as the scalp, face, or trunk. However, on acral surfaces such as the palms and soles, these cysts present <10% of the time. Typically, these lesions will not progress to sizes >5 cm. However, a rare subtype of epidermal cysts known as giant epidermal cysts tends to be much larger. Unlike epidermal inclusion cysts, giant cysts lack a central punctum, present on areas of thick skin lacking hair follicles, and affect an older patient population. Because of their large size and unique characteristics, few cases of giant epidermal cysts localized to the foot have been reported. We present a case report of a 57-year-old male with a rapidly growing, large, ulcerated, atypical epidermal inclusion cyst that had developed on the medial aspect of his hallux with underlying osseous changes. In this particular case, the location, overlying skin changes, and rapid growth of the lesion raised suspicion for malignancy. In the present report, we discuss the unusual features of this particular cyst and the etiologies, treatment course, and short-term outcomes regarding this unique tumor.

PMID: 29254851 [PubMed - indexed for MEDLINE]

Synovial Sarcoma of the Digits: A Case Report of an Unplanned Excision.

J Foot Ankle Surg. 2018 Mar - Apr;57(2):388-392

Authors: Taranto J, Havlat MF

Abstract
Synovial sarcoma is a rare occurrence in the lower extremity, although the presenting symptoms can mimic those of other more common and benign musculoskeletal pathologies. We present the case of a patient who was originally thought to have a Morton's neuroma or ganglionic cyst. The correct diagnosis, synovial sarcoma, was determined only after an unplanned excision. Despite the patient presenting with symptoms similar to those of a compressive neuropathy, a high index of suspicion should be present when a patient presents with any soft tissue mass, especially if it has an unusual clinical appearance to avoid an unplanned excision.

PMID: 29108685 [PubMed - indexed for MEDLINE]

Pulmonary alveolar proteinosis and clear cell renal cell carcinoma.

Clin Respir J. 2017 May;11(3):400-402

Authors: Zhou WW, Guan YY, Liu XM

PMID: 26148820 [PubMed - indexed for MEDLINE]

Genomic and phenotypic delineation of congenital microcephaly.

Genet Med. 2018 Sep 14;:

Authors: Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS

Abstract
PURPOSE: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.
METHODS: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.
RESULTS: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarfism both clinically (short stature in >52% of patients with primary microcephaly) and molecularly (e.g., we report the first instance of CEP135-related microcephalic primordial dwarfism). We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1.
CONCLUSION: Our study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect.

PMID: 30214071 [PubMed - as supplied by publisher]

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genet Med. 2018 Sep 13;:

Authors: Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB, BabySeq Project Team

Abstract
PURPOSE: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.
METHODS: We evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting. Reason(s) for declining participation and sociodemographic associations were analyzed.
RESULTS: Of 3860 eligible approached families, 10% attended ES, 67% of whom enrolled. Of 1760 families queried for decline reasons, 58% were uninterested in research. Among 499 families considering research, principal reasons for decline prior to ES included burdensome study logistics (48%), feeling overwhelmed postpartum (17%), and lack of interest/discomfort with genetic testing (17%). Decliners after ES more often cited concerns about privacy/insurability (41%) and uncertain/unfavorable results (23%).
CONCLUSION: Low interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts. Concerns over privacy and result implications were most commonly cited in decliners after ES. Understanding parental concerns around research nGS may inform future integration of nGS into newborn screening, predictive testing, and pediatric diagnostics.

PMID: 30209271 [PubMed - as supplied by publisher]