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Fetal cardiology and genetics March 2019

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  1. Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network.

Lieb W, Jacobs G, Wolf A, Richter G, Gaede KI, Schwarz J, Arnold N, Böhm R, Buyx A, Cascorbi I, Franke A, Glinicke C, Held-Feindt J, Junker R, Kalthoff H, Kramer HH, Leypoldt F, Maass N, Maetzler W, May S, Mehdorn HM, Röcken C, Schafmayer C, Schrappe M, Schreiber S, Sebens S, Stephani U, Synowitz M, Weimer J, Zabel P, Nöthlings U, Röder C, Krawczak M.

J Community Genet. 2019 Mar 29. doi: 10.1007/s12687-019-00417-8. [Epub ahead of print]

PMID: 30927239

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  1. Three-dimensional visualisation of the fetal heart using prenatal MRI with motion-corrected slice-volume registration: a prospective, single-centre cohort study.

Lloyd DFA, Pushparajah K, Simpson JM, van Amerom JFP, van Poppel MPM, Schulz A, Kainz B, Deprez M, Lohezic M, Allsop J, Mathur S, Bellsham-Revell H, Vigneswaran T, Charakida M, Miller O, Zidere V, Sharland G, Rutherford M, Hajnal JV, Razavi R.

Lancet. 2019 Mar 22. pii: S0140-6736(18)32490-5. doi: 10.1016/S0140-6736(18)32490-5. [Epub ahead of print]

PMID: 30910324 Free Article

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3.Brain and CSF Volumes in Fetuses and Neonates with Antenatal Diagnosis of Critical Congenital Heart Disease: A Longitudinal MRI Study.

Claessens NHP, Khalili N, Isgum I, Ter Heide H, Steenhuis TJ, Turk E, Jansen NJG, de Vries LS, Breur JMPJ, de Heus R, Benders MJNL.

AJNR Am J Neuroradiol. 2019 Mar 28. doi: 10.3174/ajnr.A6021. [Epub ahead of print]

PMID: 30923087

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  1. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature.

Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O’Connor MJ, Ahrens-Nicklas R.

Am J Med Genet A. 2019 Mar 28. doi: 10.1002/ajmg.a.61123. [Epub ahead of print]

PMID: 30919579

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  1. Decreased Amino Acid Concentrations are Involved in Congenital Heart Disease.

Lai G, Li X, Zhang B, Wang L, He R, Zhao Y.

Ann Nutr Metab. 2019 Mar 27;74(3):257-263. doi: 10.1159/000499405. [Epub ahead of print]

PMID: 30917366

 

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  1. DGCR8 expression is altered in children with congenital heart defects.

Guo Z, Li B, Tian P, Li D, Zhang Y, Li Q, Fan T, Yue J, Guo Y.

Clin Chim Acta. 2019 Mar 26;495:25-28. doi: 10.1016/j.cca.2019.03.1619. [Epub ahead of print]

PMID: 30926277

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  1. Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C, Deng Y, Xie L, Yu L, Liu L, Liu H, Dai L.

Sci Rep. 2019 Mar 25;9(1):5065. doi: 10.1038/s41598-019-41641-z.

PMID: 30911047 Free PMC Article

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  1. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances.

de Souza LC, Dos Santos AP, Sgardioli IC, Viguetti-Campos NL, Marques Prota JR, de Oliveira-Sobrinho RP, Vieira TP, Gil-da-Silva-Lopes VL.

J Intellect Disabil Res. 2019 Mar 21. doi: 10.1111/jir.12615. [Epub ahead of print]

PMID: 30900361

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  1. Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD).

Radhakrishna U, Albayrak S, Zafra R, Baraa A, Vishweswaraiah S, Veerappa AM, Mahishi D, Saiyed N, Mishra NK, Guda C, Ali-Fehmi R, Bahado-Singh RO.

PLoS One. 2019 Mar 21;14(3):e0200229. doi: 10.1371/journal.pone.0200229. eCollection 2019.

PMID: 30897084 Free PMC Article

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  1. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Westphal DS, Leszinski GS, Rieger-Fackeldey E, Graf E, Weirich G, Meitinger T, Ostermayer E, Oberhoffer R, Wagner M.

Clin Genet. 2019 Mar 14. doi: 10.1111/cge.13536. [Epub ahead of print]

PMID: 30868567

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  1. The role of additional pathology on head growth patterns in fetuses with congenital heart defects.

van Nisselrooij AEL, Jansen FAR, van Geloven N, Linskens IH, Pajkrt E, Clur SA, Rammeloo LA, Rozendaal L, van Lith JMM, Blom NA, Haak MC.

Ultrasound Obstet Gynecol. 2019 Mar 13. doi: 10.1002/uog.20260. [Epub ahead of print]

PMID: 30868678

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  1. Endocardially Derived Macrophages Are Essential for Valvular Remodeling.

Shigeta A, Huang V, Zuo J, Besada R, Nakashima Y, Lu Y, Ding Y, Pellegrini M, Kulkarni RP, Hsiai T, Deb A, Zhou B, Nakano H, Nakano A.

Dev Cell. 2019 Mar 11;48(5):617-630.e3. doi: 10.1016/j.devcel.2019.01.021. Epub 2019 Feb 21.

PMID: 30799229

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  1. Placental Pathology and Neuroimaging Correlates in Neonates with Congenital Heart Disease.

Schlatterer SD, Murnick J, Jacobs M, White L, Donofrio MT, Limperopoulos C.

Sci Rep. 2019 Mar 11;9(1):4137. doi: 10.1038/s41598-019-40894-y.

PMID: 30858514 Free PMC Article

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  1. Prenatal exposure to PM2.5 and Congenital Heart Diseases in Taiwan.

Huang CC, Chen BY, Pan SC, Ho YL, Guo YL.

Sci Total Environ. 2019 Mar 10;655:880-886. doi: 10.1016/j.scitotenv.2018.11.284. Epub 2018 Nov 20.

PMID: 30481714

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  1. Prenatal heart block screening in mothers with SSA/SSB autoantibodies: Targeted screening protocol is a cost-effective strategy.

Evers PD, Alsaied T, Anderson JB, Cnota JF, Divanovic AA.

Congenit Heart Dis. 2019 Mar;14(2):221-229. doi: 10.1111/chd.12713. Epub 2018 Nov 16.

PMID: 30444309

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  1. ‘Absent’ pulmonary valve with intact ventricular septum mimicking tricuspid valve atresia: Prenatal diagnosis and postnatal course.

Monacci F, Bondi T, Canessa C, Chiappa E.

J Obstet Gynaecol Res. 2019 Mar;45(3):714-718. doi: 10.1111/jog.13878. Epub 2019 Jan 17.

PMID: 30656796

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  1. Prenatal Diagnosis Influences Preoperative Status in Neonates with Congenital Heart Disease: An Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

Quartermain MD, Hill KD, Goldberg DJ, Jacobs JP, Jacobs ML, Pasquali SK, Verghese GR, Wallace AS, Ungerleider RM.

Pediatr Cardiol. 2019 Mar;40(3):489-496. doi: 10.1007/s00246-018-1995-4. Epub 2018 Oct 19.

PMID: 30341588

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  1. Detailed Fetal Anatomic Ultrasound Examination: Effect of the 2014 Consensus Report on a Tertiary Referral Center.

Fratto VM, Chang A, Anton T, Sun HY, Lamale-Smith LM, Pretorius DH.

Ultrasound Q. 2019 Mar;35(1):21-29. doi: 10.1097/RUQ.0000000000000392.

PMID: 30516729

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  1. Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non-compaction phenotype.

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B.

Hum Mutat. 2019 Mar 29. doi: 10.1002/humu.23757. [Epub ahead of print]

PMID: 30924982

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  1. A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome.

Bains S, Tester DJ, Asirvatham SJ, Noseworthy PA, Ackerman MJ, Giudicessi JR.

Mayo Clin Proc. 2019 Mar 29. pii: S0025-6196(18)30984-4. doi: 10.1016/j.mayocp.2018.11.028. [Epub ahead of print]

PMID: 30935706

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  1. Risk factors associated with the development of double-inlet ventricle congenital heart disease.

Paige SL, Yang W, Priest JR, Botto LD, Shaw GM, Collins RT 2nd; National Birth Defects Prevention Study.

Birth Defects Res. 2019 Mar 28. doi: 10.1002/bdr2.1501. [Epub ahead of print]

PMID: 30920163

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  1. Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C, Deng Y, Xie L, Yu L, Liu L, Liu H, Dai L.

Sci Rep. 2019 Mar 25;9(1):5065. doi: 10.1038/s41598-019-41641-z.

PMID: 30911047 Free PMC Article

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Select item 30908816

 

  1. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Westphal DS, Leszinski GS, Rieger-Fackeldey E, Graf E, Weirich G, Meitinger T, Ostermayer E, Oberhoffer R, Wagner M.

Clin Genet. 2019 Mar 14. doi: 10.1111/cge.13536. [Epub ahead of print]

PMID: 30868567

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  1. Prenatal diagnosis of aortopulmonary window by foetal echocardiography: ‘U or reversed U sign’.

Kaya B, Ekiz A, Acar DK, Sezer S, Bornaun H, Yildirim G, Aslan H.

J Obstet Gynaecol. 2019 Mar 11:1-2. doi: 10.1080/01443615.2018.1534817. [Epub ahead of print] No abstract available.

PMID: 30856023

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  1. Scientific Abstracts Presented at the 9th Annual Phoenix Fetal Cardiology Symposium at The Camby Hotel, Phoenix, Arizona, November 2-6, 2018 : Sponsored by Phoenix Children’s Hospital Chair, Christopher Lindblade, MD, Co-Directors, Julia Solomon, MD, Anita Moon-Grady, MD, and Norman Silverman, MD.
[No authors listed]

Pediatr Cardiol. 2019 Mar;40(3):671-674. doi: 10.1007/s00246-019-02073-8. No abstract available.

PMID: 30843085

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  1. In Utero Aortic Arch Thrombosis Masquerading as Interrupted Aortic Arch: A Case Report and Review of the Literature.

Knadler JJ, Zobeck M, Masand P, Sartain S, Kyle WB.

Pediatr Cardiol. 2019 Mar;40(3):658-663. doi: 10.1007/s00246-019-02068-5. Epub 2019 Feb 8.

PMID: 30734851

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  1. Z-Score Reference Ranges for Fetal Heart Functional Measurements in a Large Brazilian Pregnant Women Sample.

Rocha LA, Rolo LC, Nardozza LMM, Tonni G, Araujo Júnior E.

Pediatr Cardiol. 2019 Mar;40(3):554-562. doi: 10.1007/s00246-018-2026-1. Epub 2018 Nov 10.

PMID: 30415382

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Select item 30377753

 

  1. Prenatal Diagnosis Influences Preoperative Status in Neonates with Congenital Heart Disease: An Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

Quartermain MD, Hill KD, Goldberg DJ, Jacobs JP, Jacobs ML, Pasquali SK, Verghese GR, Wallace AS, Ungerleider RM.

Pediatr Cardiol. 2019 Mar;40(3):489-496. doi: 10.1007/s00246-018-1995-4. Epub 2018 Oct 19.

PMID: 30341588

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Select item 30315340

 

  1. In-utero treatment of large symptomatic rhabdomyoma with sirolimus.

Vachon-Marceau C, Guerra V, Jaeggi E, Chau V, Ryan G, Van Mieghem T.

Ultrasound Obstet Gynecol. 2019 Mar;53(3):420-421. doi: 10.1002/uog.20196. No abstract available.

PMID: 30549350

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  1. Automated analysis of fetal cardiac function using color tissue Doppler imaging in second half of normal pregnancy.

Herling L, Johnson J, Ferm-Widlund K, Bergholm F, Elmstedt N, Lindgren P, Sonesson SE, Acharya G, Westgren M.

Ultrasound Obstet Gynecol. 2019 Mar;53(3):348-357. doi: 10.1002/uog.19037.

PMID: 29484743

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