ISSN 1662-4009 (online)

ey0016.3-5 | Thyroid and Pregnancy | ESPEYB16

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

RK Dhillon-Smith , LJ Middleton , KK Sunner , V Cheed , K Baker , S Farrell-Carver , R Bender-Atik , R Agrawal , K Bhatia , E Edi-Osagie , T Ghobara , P Gupta , D Jurkovic , Y Khalaf , M MacLean , C McCabe , K Mulbagal , N Nunes , C Overton , S Quenby , R Rai , N Raine-Fenning , L Robinson , J Ross , A Sizer , R Small , A Tan , M Underwood , MD Kilby , K Boelaert , J Daniels , S Thangaratinam , SY Chan , A Coomarasamy

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...