U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Down syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.\n\nPeople with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.\n\nIndividuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).\n\nDelayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.\n\nPeople with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer's disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer's disease. Although Alzheimer's disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.

Recent clinical studies

Etiology

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
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
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
Sepulveda W, Wong AE, Viñals F, Andreeva E, Adzehova N, Martinez-Ten P
Ultrasound Obstet Gynecol 2012 Feb;39(2):152-6. Epub 2012 Jan 9 doi: 10.1002/uog.10121. PMID: 22009662
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

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
Sepulveda W, Garcia-Rodriguez R, Martinez-Ten P, Tonni G, Grisolia G, Meagher S
J Clin Ultrasound 2023 Feb;51(2):300-310. doi: 10.1002/jcu.23337. PMID: 36785499
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
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
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

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
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
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
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

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
Wojda KM, Moczulska H, Sieroszewski PJ
Ginekol Pol 2019;90(10):604-606. doi: 10.5603/GP.2019.0104. PMID: 31686418
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
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
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

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
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
Wojda KM, Moczulska H, Sieroszewski PJ
Ginekol Pol 2019;90(10):604-606. doi: 10.5603/GP.2019.0104. PMID: 31686418
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...