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Abnormal fetal nasal bone visualization

MedGen UID:
1814211
•Concept ID:
C5676633
•
Finding
HPO: HP:0025705

Definition

Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal fetal nasal bone visualization

Conditions with this feature

Complete trisomy 21 syndrome
MedGen UID:
4385
•Concept ID:
C0013080
•
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
See: Condition Record
Complete trisomy 21 syndrome

Recent clinical studies

Etiology

Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome.
Miller KA, Sagaser KG, Hertenstein CB, Blakemore KJ, Forster KR, Lawson CS, Jelin AC
J Ultrasound Med 2023 Aug;42(8):1709-1716. Epub 2023 Feb 6 doi: 10.1002/jum.16190. PMID: 36744578Free PMC Article
Application of an individualized nomogram in first-trimester screening for trisomy 21.
Sun Y, Zhang L, Dong D, Li X, Wang J, Yin C, Poon LC, Tian J, Wu Q
Ultrasound Obstet Gynecol 2021 Jul;58(1):56-66. doi: 10.1002/uog.22087. PMID: 32438493Free PMC Article
First trimester sonographic diagnosis of orofacial defects. Review of literature.
Salazar Trujillo A, Rincón-Guio C, López Narváez L, Cáceres J, Charry JD
J Matern Fetal Neonatal Med 2020 Sep;33(18):3200-3206. Epub 2019 Jan 27 doi: 10.1080/14767058.2019.1570114. PMID: 30688130
Maternal ethnic origin and fetal nasal bones at 11-14 weeks of gestation.
Prefumo F, Sairam S, Bhide A, Penna L, Hollis B, Thilaganathan B
BJOG 2004 Feb;111(2):109-12. doi: 10.1046/j.1471-0528.2003.00025.x-i1. PMID: 14723746
Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.
Zoppi MA, Ibba RM, Axiana C, Floris M, Manca F, Monni G
Prenat Diagn 2003 Jun;23(6):496-500. doi: 10.1002/pd.628. PMID: 12813765

Diagnosis

Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review.
Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y
Int J Gynaecol Obstet 2023 Dec;163(3):778-781. Epub 2023 May 25 doi: 10.1002/ijgo.14881. PMID: 37231986
Application of an individualized nomogram in first-trimester screening for trisomy 21.
Sun Y, Zhang L, Dong D, Li X, Wang J, Yin C, Poon LC, Tian J, Wu Q
Ultrasound Obstet Gynecol 2021 Jul;58(1):56-66. doi: 10.1002/uog.22087. PMID: 32438493Free PMC Article
First trimester sonographic diagnosis of orofacial defects. Review of literature.
Salazar Trujillo A, Rincón-Guio C, López Narváez L, Cáceres J, Charry JD
J Matern Fetal Neonatal Med 2020 Sep;33(18):3200-3206. Epub 2019 Jan 27 doi: 10.1080/14767058.2019.1570114. PMID: 30688130
Normal fetal nasal bone length at 14 to 28 weeks of gestation.
Shrestha A, Pradhan S, Tuladhar AS, Pradhan S, Yadav B, Acharya R, Pathak R, Thapa B
Nepal Med Coll J 2014 Dec;16(2-4):152-5. PMID: 26930735
Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.
Zoppi MA, Ibba RM, Axiana C, Floris M, Manca F, Monni G
Prenat Diagn 2003 Jun;23(6):496-500. doi: 10.1002/pd.628. PMID: 12813765

Therapy

Application of an individualized nomogram in first-trimester screening for trisomy 21.
Sun Y, Zhang L, Dong D, Li X, Wang J, Yin C, Poon LC, Tian J, Wu Q
Ultrasound Obstet Gynecol 2021 Jul;58(1):56-66. doi: 10.1002/uog.22087. PMID: 32438493Free PMC Article
Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology.
Faure JM, Mousty E, Bigorre M, Wells C, Boulot P, Captier G, Fuchs F
Prenat Diagn 2020 Oct;40(11):1447-1458. Epub 2020 Aug 17 doi: 10.1002/pd.5794. PMID: 32673416
Warfarin-exposed zebrafish embryos resembles human warfarin embryopathy in a dose and developmental-time dependent manner - From molecular mechanisms to environmental concerns.
Granadeiro L, Dirks RP, Ortiz-Delgado JB, Gavaia PJ, Sarasquete C, Laizé V, Cancela ML, Fernández I
Ecotoxicol Environ Saf 2019 Oct 15;181:559-571. Epub 2019 Jun 22 doi: 10.1016/j.ecoenv.2019.06.042. PMID: 31238190
Nasal bone evaluation in fetuses with Down syndrome during the second and third trimesters of pregnancy.
Lee W, DeVore GR, Comstock CH, Kalache KD, McNie B, Chaiworapongsa T, Conoscenti G, Treadwell MC, Johnson A, Huang R, Romero R
J Ultrasound Med 2003 Jan;22(1):55-60. doi: 10.7863/jum.2003.22.1.55. PMID: 12523611

Prognosis

Application of an individualized nomogram in first-trimester screening for trisomy 21.
Sun Y, Zhang L, Dong D, Li X, Wang J, Yin C, Poon LC, Tian J, Wu Q
Ultrasound Obstet Gynecol 2021 Jul;58(1):56-66. doi: 10.1002/uog.22087. PMID: 32438493Free PMC Article
The absence of fetal nasal bones in ultrasound examination between 11 + 0 and 13 + 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13.
Wojda KM, Moczulska H, Sieroszewski PJ
Ginekol Pol 2019;90(10):604-606. doi: 10.5603/GP.2019.0104. PMID: 31686418
First-trimester assessment of nasal bone using retronasal triangle view: a prospective study.
Adiego B, Martinez-Ten P, Illescas T, Bermejo C, Sepulveda W
Ultrasound Obstet Gynecol 2014 Mar;43(3):272-6. Epub 2014 Feb 9 doi: 10.1002/uog.12525. PMID: 23733531
Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency.
Soto E, Richani K, Gonçalves LF, Devers P, Espinoza J, Lee W, Treadwell MC, Romero R
Ultrasound Obstet Gynecol 2006 May;27(5):574-9. doi: 10.1002/uog.2770. PMID: 16619383
First-trimester nuchal translucency, nasal bones, and trisomy 21 in selected and unselected populations.
Prefumo F, Sairam S, Bhide A, Thilaganathan B
Am J Obstet Gynecol 2006 Mar;194(3):828-33. doi: 10.1016/j.ajog.2005.09.008. PMID: 16522420

Clinical prediction guides

Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review.
Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y
Int J Gynaecol Obstet 2023 Dec;163(3):778-781. Epub 2023 May 25 doi: 10.1002/ijgo.14881. PMID: 37231986
Application of an individualized nomogram in first-trimester screening for trisomy 21.
Sun Y, Zhang L, Dong D, Li X, Wang J, Yin C, Poon LC, Tian J, Wu Q
Ultrasound Obstet Gynecol 2021 Jul;58(1):56-66. doi: 10.1002/uog.22087. PMID: 32438493Free PMC Article
The absence of fetal nasal bones in ultrasound examination between 11 + 0 and 13 + 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13.
Wojda KM, Moczulska H, Sieroszewski PJ
Ginekol Pol 2019;90(10):604-606. doi: 10.5603/GP.2019.0104. PMID: 31686418
Likelihood ratios for fetal trisomy 21 based on nasal bone length in the second trimester: how best to define hypoplasia?
Cusick W, Shevell T, Duchan LS, Lupinacci CA, Terranova J, Crombleholme WR
Ultrasound Obstet Gynecol 2007 Sep;30(3):271-4. doi: 10.1002/uog.4091. PMID: 17721915
First-trimester nuchal translucency, nasal bones, and trisomy 21 in selected and unselected populations.
Prefumo F, Sairam S, Bhide A, Thilaganathan B
Am J Obstet Gynecol 2006 Mar;194(3):828-33. doi: 10.1016/j.ajog.2005.09.008. PMID: 16522420

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