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Abnormal maternal serum screening

MedGen UID:
868945
Concept ID:
C4023359
Finding
HPO: HP:0011436

Definition

An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. [from HPO]

Professional guidelines

PubMed

Maya I, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Sagi-Dain L
Ultrasound Obstet Gynecol 2023 Jun;61(6):698-704. doi: 10.1002/uog.26177. PMID: 36776119
Gagnon A, Wilson RD; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE
J Obstet Gynaecol Can 2008 Oct;30(10):918-932. doi: 10.1016/S1701-2163(16)32973-5. PMID: 19038077
Whittle W, Chaddha V, Wyatt P, Huppertz B, Kingdom J
Clin Genet 2006 Feb;69(2):97-104. doi: 10.1111/j.1399-0004.2005.00546.x. PMID: 16433688

Recent clinical studies

Etiology

Li C, Xiong M, Zhan Y, Zhang J, Qiao G, Li J, Yang H
Mol Diagn Ther 2023 Nov;27(6):769-779. Epub 2023 Sep 9 doi: 10.1007/s40291-023-00674-x. PMID: 37689607
Maya I, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Sagi-Dain L
Ultrasound Obstet Gynecol 2023 Jun;61(6):698-704. doi: 10.1002/uog.26177. PMID: 36776119
Sagi-Dain L, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Maya I
Obstet Gynecol 2022 May 1;139(5):877-887. Epub 2022 Apr 5 doi: 10.1097/AOG.0000000000004758. PMID: 35576346
Gagnon A, Wilson RD; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE
J Obstet Gynaecol Can 2008 Oct;30(10):918-932. doi: 10.1016/S1701-2163(16)32973-5. PMID: 19038077
DeVore GR
Semin Perinatol 2003 Apr;27(2):173-82. doi: 10.1053/sper.2003.50016. PMID: 12769203

Diagnosis

Li C, Xiong M, Zhan Y, Zhang J, Qiao G, Li J, Yang H
Mol Diagn Ther 2023 Nov;27(6):769-779. Epub 2023 Sep 9 doi: 10.1007/s40291-023-00674-x. PMID: 37689607
Sagi-Dain L, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Maya I
Obstet Gynecol 2022 May 1;139(5):877-887. Epub 2022 Apr 5 doi: 10.1097/AOG.0000000000004758. PMID: 35576346
Lin CJ, Chen CP, Chien SC, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Lin KC, Yeh TT
Taiwan J Obstet Gynecol 2014 Mar;53(1):62-7. doi: 10.1016/j.tjog.2013.02.003. PMID: 24767649
Gagnon A, Wilson RD; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE
J Obstet Gynaecol Can 2008 Oct;30(10):918-932. doi: 10.1016/S1701-2163(16)32973-5. PMID: 19038077
DeVore GR
Semin Perinatol 2003 Apr;27(2):173-82. doi: 10.1053/sper.2003.50016. PMID: 12769203

Therapy

Gagnon A, Wilson RD; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE
J Obstet Gynaecol Can 2008 Oct;30(10):918-932. doi: 10.1016/S1701-2163(16)32973-5. PMID: 19038077
Towner D, Currier RJ, Lorey FW, Cunningham GC, Greve LC
Am J Obstet Gynecol 2007 Jun;196(6):608.e1-5; discussion 608.e5. doi: 10.1016/j.ajog.2007.03.010. PMID: 17547917
Alkazaleh F, Viero S, Simchen M, Walker M, Smith G, Laskin C, Windrim R, Kingdom J
Ultrasound Obstet Gynecol 2004 May;23(5):472-6. doi: 10.1002/uog.1044. PMID: 15133798

Prognosis

Li C, Xiong M, Zhan Y, Zhang J, Qiao G, Li J, Yang H
Mol Diagn Ther 2023 Nov;27(6):769-779. Epub 2023 Sep 9 doi: 10.1007/s40291-023-00674-x. PMID: 37689607
Ekin A, Gezer C, Taner CE, Ozeren M, Avci ME, Uyar I, Ertas IE
J Obstet Gynaecol 2014 Oct;34(7):571-5. Epub 2014 May 27 doi: 10.3109/01443615.2014.919577. PMID: 24867317
Lin CJ, Chen CP, Chien SC, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Lin KC, Yeh TT
Taiwan J Obstet Gynecol 2014 Mar;53(1):62-7. doi: 10.1016/j.tjog.2013.02.003. PMID: 24767649
Whittle W, Chaddha V, Wyatt P, Huppertz B, Kingdom J
Clin Genet 2006 Feb;69(2):97-104. doi: 10.1111/j.1399-0004.2005.00546.x. PMID: 16433688
DeVore GR
Semin Perinatol 2003 Apr;27(2):173-82. doi: 10.1053/sper.2003.50016. PMID: 12769203

Clinical prediction guides

Li C, Xiong M, Zhan Y, Zhang J, Qiao G, Li J, Yang H
Mol Diagn Ther 2023 Nov;27(6):769-779. Epub 2023 Sep 9 doi: 10.1007/s40291-023-00674-x. PMID: 37689607
Lin CJ, Chen SW, Chen CP, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Lin KC, Yeh TT
Taiwan J Obstet Gynecol 2018 Jun;57(3):370-373. doi: 10.1016/j.tjog.2018.04.007. PMID: 29880167
Ekin A, Gezer C, Taner CE, Ozeren M, Avci ME, Uyar I, Ertas IE
J Obstet Gynaecol 2014 Oct;34(7):571-5. Epub 2014 May 27 doi: 10.3109/01443615.2014.919577. PMID: 24867317
Whittle W, Chaddha V, Wyatt P, Huppertz B, Kingdom J
Clin Genet 2006 Feb;69(2):97-104. doi: 10.1111/j.1399-0004.2005.00546.x. PMID: 16433688
DeVore GR
Semin Perinatol 2003 Apr;27(2):173-82. doi: 10.1053/sper.2003.50016. PMID: 12769203

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