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Fetal Anomalies

MedGen UID:
540052
Concept ID:
C0266647
Congenital Abnormality
Synonyms: Anomaly, Fetal; Fetal Anomaly

Professional guidelines

PubMed

Metoki H, Iwama N, Hamada H, Satoh M, Murakami T, Ishikuro M, Obara T
Hypertens Res 2022 Aug;45(8):1298-1309. Epub 2022 Jun 20 doi: 10.1038/s41440-022-00965-6. PMID: 35726086Free PMC Article
Obstet Gynecol 2021 Jun 1;137(6):e145-e162. doi: 10.1097/AOG.0000000000004397. PMID: 34011891
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Recent clinical studies

Etiology

Van Mieghem T, Abbasi N, Shinar S, Keunen J, Seaward G, Windrim R, Ryan G
Am J Obstet Gynecol MFM 2022 Mar;4(2S):100520. Epub 2021 Oct 30 doi: 10.1016/j.ajogmf.2021.100520. PMID: 34728404
Bjelic-Radisic V, Esfandbod M, Alipour S
Adv Exp Med Biol 2020;1252:165-174. doi: 10.1007/978-3-030-41596-9_23. PMID: 32816278
Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT
Ultrasound Obstet Gynecol 2017 Oct;50(4):429-441. Epub 2017 Sep 7 doi: 10.1002/uog.17246. PMID: 27546497
Lawson G, Fletcher R
J Fam Plann Reprod Health Care 2014 Oct;40(4):283-8. Epub 2014 Jun 23 doi: 10.1136/jfprhc-2013-100866. PMID: 24958072
Benoit B, Hafner T, Kurjak A, Kupesić S, Bekavac I, Bozek T
J Perinat Med 2002;30(1):63-73. doi: 10.1515/JPM.2002.009. PMID: 11933658

Diagnosis

Vora NL, Norton ME
Am J Obstet Gynecol 2023 Feb;228(2):140-149. Epub 2022 Aug 24 doi: 10.1016/j.ajog.2022.08.040. PMID: 36027950Free PMC Article
Kagan KO, Sonek J, Kozlowski P
Arch Gynecol Obstet 2022 Apr;305(4):825-835. Epub 2022 Mar 13 doi: 10.1007/s00404-022-06477-5. PMID: 35279726Free PMC Article
Van Mieghem T, Abbasi N, Shinar S, Keunen J, Seaward G, Windrim R, Ryan G
Am J Obstet Gynecol MFM 2022 Mar;4(2S):100520. Epub 2021 Oct 30 doi: 10.1016/j.ajogmf.2021.100520. PMID: 34728404
Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC; ACMG Professional Practice and Guidelines Committee
Genet Med 2020 Apr;22(4):675-680. Epub 2020 Jan 8 doi: 10.1038/s41436-019-0731-7. PMID: 31911674
Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT
Ultrasound Obstet Gynecol 2017 Oct;50(4):429-441. Epub 2017 Sep 7 doi: 10.1002/uog.17246. PMID: 27546497

Therapy

David AL, Spencer RN
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S67-S78. doi: 10.1002/jcph.2126. PMID: 36106777Free PMC Article
Dick JR, Wimalasundera R, Nandi R
Anaesthesia 2021 Apr;76 Suppl 4:63-68. doi: 10.1111/anae.15423. PMID: 33682103
Kiernan E, Jones KL
Clin Perinatol 2019 Jun;46(2):203-213. Epub 2019 Mar 28 doi: 10.1016/j.clp.2019.02.003. PMID: 31010556
Epner JE, Jonas HS, Seckinger DL
JAMA 1998 Aug 26;280(8):724-9. doi: 10.1001/jama.280.8.724. PMID: 9728645
Garmel SH, D'Alton ME
West J Med 1993 Sep;159(3):273-85. PMID: 8236969Free PMC Article

Prognosis

Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine
N Engl J Med 2020 Oct 29;383(18):1746-1756. Epub 2020 Oct 7 doi: 10.1056/NEJMoa2023643. PMID: 33027564Free PMC Article
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A 2019 Dec;179(12):2382-2392. Epub 2019 Sep 30 doi: 10.1002/ajmg.a.61365. PMID: 31566869Free PMC Article
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
Than NG, Papp Z
Best Pract Res Clin Obstet Gynaecol 2017 Aug;43:32-49. Epub 2017 Jan 23 doi: 10.1016/j.bpobgyn.2017.01.005. PMID: 28259715
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Clinical prediction guides

David AL, Spencer RN
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S67-S78. doi: 10.1002/jcph.2126. PMID: 36106777Free PMC Article
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
Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK
Clin Genet 2019 Jan;95(1):79-84. Epub 2018 Jun 29 doi: 10.1111/cge.13381. PMID: 29790157
Than NG, Papp Z
Best Pract Res Clin Obstet Gynaecol 2017 Aug;43:32-49. Epub 2017 Jan 23 doi: 10.1016/j.bpobgyn.2017.01.005. PMID: 28259715
Int J Toxicol 2008;27 Suppl 4:1-82. doi: 10.1080/10915810802548359. PMID: 19101832

Recent systematic reviews

Wilpers A, Bahtiyar MO, Stitelman D, Batten J, Calix RX, Chase V, Yung N, Maassel N, Novick G
Am J Obstet Gynecol MFM 2021 May;3(3):100320. Epub 2021 Jan 23 doi: 10.1016/j.ajogmf.2021.100320. PMID: 33493706
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423
Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT
Ultrasound Obstet Gynecol 2017 Oct;50(4):429-441. Epub 2017 Sep 7 doi: 10.1002/uog.17246. PMID: 27546497
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883
Benoit B, Hafner T, Kurjak A, Kupesić S, Bekavac I, Bozek T
J Perinat Med 2002;30(1):63-73. doi: 10.1515/JPM.2002.009. PMID: 11933658

Supplemental Content

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