Etiology
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org,
Prabhu M,
Kuller JA,
Biggio JR
Am J Obstet Gynecol
2021 Oct;225(4):B2-B15.
Epub 2021 Jun 23
doi: 10.1016/j.ajog.2021.06.079.
PMID: 34171388
Wieczorek D
Clin Genet
2013 Jun;83(6):499-510.
Epub 2013 Apr 8
doi: 10.1111/cge.12123.
PMID: 23565775
Rosenfeld JA,
Traylor RN,
Schaefer GB,
McPherson EW,
Ballif BC,
Klopocki E,
Mundlos S,
Shaffer LG,
Aylsworth AS;
1q21.1 Study Group
Eur J Hum Genet
2012 Jul;20(7):754-61.
Epub 2012 Feb 8
doi: 10.1038/ejhg.2012.6.
PMID: 22317977Free PMC Article
Cohen MM Jr,
Lemire RJ
Teratology
1982 Apr;25(2):161-72.
doi: 10.1002/tera.1420250206.
PMID: 7101196
Hughes GR,
Whaley K
Br Med J
1972 Dec 2;4(5839):533-6.
doi: 10.1136/bmj.4.5839.533.
PMID: 4566018Free PMC Article
Diagnosis
Reis LM,
Maheshwari M,
Capasso J,
Atilla H,
Dudakova L,
Thompson S,
Zitano L,
Lay-Son G,
Lowry RB,
Black J,
Lee J,
Shue A,
Kremlikova Pourova R,
Vaneckova M,
Skalicka P,
Jedlickova J,
Trkova M,
Williams B,
Richard G,
Bachman K,
Seeley AH,
Costakos D,
Glaser TM,
Levin AV,
Liskova P,
Murray JC,
Semina EV
J Med Genet
2023 Apr;60(4):368-379.
Epub 2022 Jul 26
doi: 10.1136/jmg-2022-108646.
PMID: 35882526Free PMC Article
Samuels ME,
Campeau PM
Eur J Hum Genet
2019 May;27(5):671-680.
Epub 2019 Jan 21
doi: 10.1038/s41431-018-0329-6.
PMID: 30664715Free PMC Article
Vanlerberghe C,
Boutry N,
Petit F
Clin Genet
2018 Jul;94(1):43-53.
Epub 2018 Apr 11
doi: 10.1111/cge.13209.
PMID: 29322497
Toriello HV
Semin Thromb Hemost
2011 Sep;37(6):707-12.
Epub 2011 Nov 18
doi: 10.1055/s-0031-1291381.
PMID: 22102274
de Ybarrondo L,
Barratt MS
Pediatr Rev
2011 Sep;32(9):399-400; discussion 400.
doi: 10.1542/pir.32-9-399.
PMID: 21885665
Therapy
Recker F,
Weber EC,
Strizek B,
Geipel A,
Berg C,
Gembruch U
Arch Gynecol Obstet
2022 Nov;306(5):1449-1454.
Epub 2022 Jan 18
doi: 10.1007/s00404-022-06397-4.
PMID: 35043273Free PMC Article
Young J,
Xu C,
Papadakis GE,
Acierno JS,
Maione L,
Hietamäki J,
Raivio T,
Pitteloud N
Endocr Rev
2019 Apr 1;40(2):669-710.
doi: 10.1210/er.2018-00116.
PMID: 30698671
Bates GW Jr,
Propst AM
Obstet Gynecol Clin North Am
2012 Dec;39(4):495-506.
doi: 10.1016/j.ogc.2012.10.001.
PMID: 23182556
Nurden AT
Orphanet J Rare Dis
2006 Apr 6;1:10.
doi: 10.1186/1750-1172-1-10.
PMID: 16722529Free PMC Article
Kramer L,
Hörl WH
Semin Nephrol
2002 Jul;22(4):290-301.
PMID: 12118394
Prognosis
Adams AD,
Stover S,
Rac MW
Prenat Diagn
2021 Mar;41(4):486-496.
Epub 2021 Feb 4
doi: 10.1002/pd.5886.
PMID: 33540475
Yazdani R,
Fekrvand S,
Shahkarami S,
Azizi G,
Moazzami B,
Abolhassani H,
Aghamohammadi A
Clin Immunol
2019 Jan;198:19-30.
Epub 2018 Nov 13
doi: 10.1016/j.clim.2018.11.007.
PMID: 30439505
Zaeem Z,
Siddiqi ZA,
Zochodne DW
Clin Auton Res
2019 Jun;29(3):289-299.
Epub 2018 Jul 17
doi: 10.1007/s10286-018-0542-y.
PMID: 30019292
Rodríguez Soriano J
J Nephrol
2003 Jul-Aug;16(4):603-5.
PMID: 14696767
Lancet
1988 Nov 12;2(8620):1117-8.
PMID: 2903329
Clinical prediction guides
Nielsen-Dandoroff E,
Ruegg MSG,
Bicknell LS
Eur J Hum Genet
2023 Aug;31(8):859-868.
Epub 2023 Apr 14
doi: 10.1038/s41431-023-01359-z.
PMID: 37059840Free PMC Article
Recker F,
Weber EC,
Strizek B,
Geipel A,
Berg C,
Gembruch U
Arch Gynecol Obstet
2022 Nov;306(5):1449-1454.
Epub 2022 Jan 18
doi: 10.1007/s00404-022-06397-4.
PMID: 35043273Free PMC Article
Vanlerberghe C,
Boutry N,
Petit F
Clin Genet
2018 Jul;94(1):43-53.
Epub 2018 Apr 11
doi: 10.1111/cge.13209.
PMID: 29322497
Moortgat S,
Berland S,
Aukrust I,
Maystadt I,
Baker L,
Benoit V,
Caro-Llopis A,
Cooper NS,
Debray FG,
Faivre L,
Gardeitchik T,
Haukanes BI,
Houge G,
Kivuva E,
Martinez F,
Mehta SG,
Nassogne MC,
Powell-Hamilton N,
Pfundt R,
Rosello M,
Prescott T,
Vasudevan P,
van Loon B,
Verellen-Dumoulin C,
Verloes A,
Lippe CV,
Wakeling E,
Wilkie AOM,
Wilson L,
Yuen A,
Study D,
Low KJ,
Newbury-Ecob RA
Eur J Hum Genet
2018 Jan;26(1):64-74.
Epub 2017 Nov 27
doi: 10.1038/s41431-017-0038-6.
PMID: 29180823Free PMC Article
Dam AH,
Feenstra I,
Westphal JR,
Ramos L,
van Golde RJ,
Kremer JA
Hum Reprod Update
2007 Jan-Feb;13(1):63-75.
Epub 2006 Sep 28
doi: 10.1093/humupd/dml047.
PMID: 17008355