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Abnormal fetal physiology

MedGen UID:
1814231
Concept ID:
C5676658
Finding
Synonyms: Functional fetal anomaly; Functional foetal anomaly
 
HPO: HP:0034059

Definition

Any functional anomaly of the fetus. [from HPO]

Professional guidelines

PubMed

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine
Obstet Gynecol 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ
Lancet 2019 Feb 23;393(10173):758-767. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)32042-7. PMID: 30712878
Oneda B, Rauch A
Best Pract Res Clin Obstet Gynaecol 2017 Jul;42:53-63. Epub 2017 Jan 23 doi: 10.1016/j.bpobgyn.2017.01.003. PMID: 28215395
Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E
Am J Med Genet 2002 Dec 30;115(4):269-86. doi: 10.1002/ajmg.10983. PMID: 12503120

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Yamashiro KJ, Galganski LA, Hirose S
Semin Pediatr Surg 2019 Aug;28(4):150822. Epub 2019 Jul 18 doi: 10.1053/j.sempedsurg.2019.07.005. PMID: 31451176
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E
Am J Med Genet 2002 Dec 30;115(4):269-86. doi: 10.1002/ajmg.10983. PMID: 12503120

Therapy

Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ
N Engl J Med 2015 Apr 23;372(17):1589-97. Epub 2015 Apr 1 doi: 10.1056/NEJMoa1407349. PMID: 25830321
Vatti RR, Teuber SS
Clin Rev Allergy Immunol 2012 Aug;43(1-2):45-56. doi: 10.1007/s12016-011-8277-8. PMID: 21858482
Berghella V, Buchanan E, Pereira L, Baxter JK
Obstet Gynecol Surv 2010 Feb;65(2):119-31. doi: 10.1097/OGX.0b013e3181d0c358. PMID: 20100361

Prognosis

Society for Maternal-Fetal Medicine (SMFM), Chyu JK
Am J Obstet Gynecol 2021 Nov;225(5):B26-B27. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.047. PMID: 34507798
Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Dolk H, Loane M, Garne E
Adv Exp Med Biol 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20. PMID: 20824455
Berghella V, Buchanan E, Pereira L, Baxter JK
Obstet Gynecol Surv 2010 Feb;65(2):119-31. doi: 10.1097/OGX.0b013e3181d0c358. PMID: 20100361

Clinical prediction guides

Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Murray H
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:2-11. Epub 2016 Oct 21 doi: 10.1016/j.bpobgyn.2016.10.008. PMID: 27866937
Gardner RJ
Clin Anat 2016 Jul;29(5):540-6. Epub 2016 Apr 4 doi: 10.1002/ca.22714. PMID: 26990310

Recent systematic reviews

Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Ferreira RG, Mendonça CR, Gonçalves Ramos LL, de Abreu Tacon FS, Naves do Amaral W, Ruano R
J Matern Fetal Neonatal Med 2022 Dec;35(25):6199-6212. Epub 2021 Apr 25 doi: 10.1080/14767058.2021.1909563. PMID: 33899664
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Dean SV, Lassi ZS, Imam AM, Bhutta ZA
Reprod Health 2014 Sep 26;11 Suppl 3(Suppl 3):S3. doi: 10.1186/1742-4755-11-S3-S3. PMID: 25415364Free PMC Article

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