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Short fetal humerus length

MedGen UID:
868950
•Concept ID:
C4023364
•
Congenital Abnormality
Synonyms: Short fetal long bone in upper arm length; Short foetal humerus length; Short foetal long bone in upper arm length
 
HPO: HP:0011429

Definition

A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort fetal humerus length

Recent clinical studies

Etiology

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Tzadikevitch Geffen K, Singer A, Maya I, Sagi-Dain L, Khayat M, Ben-Shachar S, Daum H, Michaelson-Cohen R, Feingold-Zadok M, Sukenik Halevy R
Arch Gynecol Obstet 2021 Jan;303(1):85-92. Epub 2020 Aug 6 doi: 10.1007/s00404-020-05729-6. PMID: 32761367
Risk of Adverse Outcomes in Euploid Pregnancies With Isolated Short Fetal Femur and Humerus on Second-Trimester Sonography.
Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V
J Ultrasound Med 2016 Dec;35(12):2675-2680. doi: 10.7863/ultra.16.01086. PMID: 27872421
Association of midtrimester short femur and short humerus with fetal growth restriction.
de Carvalho AA, Carvalho JA, Figueiredo I Jr, Velarde LG, Marchiori E
Prenat Diagn 2013 Feb;33(2):130-3. Epub 2012 Nov 28 doi: 10.1002/pd.4020. PMID: 23192722
First and second trimester sonography: an American perspective.
Scorza WE, Vintzileos A
Int J Fertil Menopausal Stud 1996 May-Jun;41(3):288-92. PMID: 8799758
Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography.
Vintzileos AM, Egan JF
Am J Obstet Gynecol 1995 Mar;172(3):837-44. doi: 10.1016/0002-9378(95)90008-x. PMID: 7892872

Diagnosis

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Tzadikevitch Geffen K, Singer A, Maya I, Sagi-Dain L, Khayat M, Ben-Shachar S, Daum H, Michaelson-Cohen R, Feingold-Zadok M, Sukenik Halevy R
Arch Gynecol Obstet 2021 Jan;303(1):85-92. Epub 2020 Aug 6 doi: 10.1007/s00404-020-05729-6. PMID: 32761367
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W
Taiwan J Obstet Gynecol 2013 Dec;52(4):580-5. doi: 10.1016/j.tjog.2013.10.023. PMID: 24411048
First and second trimester sonography: an American perspective.
Scorza WE, Vintzileos A
Int J Fertil Menopausal Stud 1996 May-Jun;41(3):288-92. PMID: 8799758
Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography.
Vintzileos AM, Egan JF
Am J Obstet Gynecol 1995 Mar;172(3):837-44. doi: 10.1016/0002-9378(95)90008-x. PMID: 7892872
Humerus and femur length shortening in the detection of Down's syndrome.
Nyberg DA, Resta RG, Luthy DA, Hickok DE, Williams MA
Am J Obstet Gynecol 1993 Feb;168(2):534-8. doi: 10.1016/0002-9378(93)90487-4. PMID: 8438923

Prognosis

The effect of fetal gender in predicting Down syndrome using long bone ultrasonographic measurements.
Goetzinger KR, Dicke JM, Gray DL, Stamilio DM, Macones GA, Odibo AO
Prenat Diagn 2010 Oct;30(10):950-5. doi: 10.1002/pd.2592. PMID: 20721879
Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography.
Vintzileos AM, Egan JF
Am J Obstet Gynecol 1995 Mar;172(3):837-44. doi: 10.1016/0002-9378(95)90008-x. PMID: 7892872
Humerus and femur length shortening in the detection of Down's syndrome.
Nyberg DA, Resta RG, Luthy DA, Hickok DE, Williams MA
Am J Obstet Gynecol 1993 Feb;168(2):534-8. doi: 10.1016/0002-9378(93)90487-4. PMID: 8438923
Sonographic scoring index for prenatal detection of chromosomal abnormalities.
Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr
J Ultrasound Med 1992 Sep;11(9):449-58. doi: 10.7863/jum.1992.11.9.449. PMID: 1283415
Humeral shortening in second-trimester fetuses with Down syndrome.
Benacerraf BR, Neuberg D, Frigoletto FD Jr
Obstet Gynecol 1991 Feb;77(2):223-7. doi: 10.1097/00006250-199102000-00012. PMID: 1824870

Clinical prediction guides

The effect of fetal gender in predicting Down syndrome using long bone ultrasonographic measurements.
Goetzinger KR, Dicke JM, Gray DL, Stamilio DM, Macones GA, Odibo AO
Prenat Diagn 2010 Oct;30(10):950-5. doi: 10.1002/pd.2592. PMID: 20721879
Do race-specific definitions of short long bones improve the detection of down syndrome on second-trimester genetic sonograms?
Harper LM, Gray D, Dicke J, Stamilio DM, Macones GA, Odibo AO
J Ultrasound Med 2010 Feb;29(2):231-5. doi: 10.7863/jum.2010.29.2.231. PMID: 20103793
Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography.
Vintzileos AM, Egan JF
Am J Obstet Gynecol 1995 Mar;172(3):837-44. doi: 10.1016/0002-9378(95)90008-x. PMID: 7892872
Humerus and femur length shortening in the detection of Down's syndrome.
Nyberg DA, Resta RG, Luthy DA, Hickok DE, Williams MA
Am J Obstet Gynecol 1993 Feb;168(2):534-8. doi: 10.1016/0002-9378(93)90487-4. PMID: 8438923
Sonographic scoring index for prenatal detection of chromosomal abnormalities.
Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr
J Ultrasound Med 1992 Sep;11(9):449-58. doi: 10.7863/jum.1992.11.9.449. PMID: 1283415

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