Fetal absent/hypoplastic nasal bone: a single center follow up study from a tertiary referral hospital in India

Cini Sudhakar Prasad, Radhamony Kunjukutty, Vivek Krishnan


Background: This study was undertaken to determine perinatal outcomes in fetuses with absent/hypoplastic nasal bone (AHNB) when considered as a broad entity irrespective of time at which it is identified and identify subgroups with the highest risk of abnormal outcome based on screening status and associated findings.

Methods: This was an observational study involving a total of 142 pregnant women whose fetuses were identified with AHNB by ultrasongraphy (USG) during a three year period from January 2016 to December 2018. These women were offered aneuploidy screening/non-invasive prenatal testing (NIPT) or direct invasive testing either alone or in combination. Outcome data was collected and a sub-group analysis was done by dividing them into 8 subgroups based on screening status and associated findings.

Results: Out of 12758 scans done during the study period, 142 fetuses (1.11%) were identified with AHNB. 80 (56%) opted the biochemical screening test, 5 (3.5%) opted NIPT while 60 (42.9%) opted for invasive testing. 21 (14.8%) had an abnormal karyotype. In sub-group analysis, the best outcome was seen in group 1, where the biochemical screening was negative and no other aneuploidy markers or anomalies were seen.

Conclusions: The present study confirms the association of AHNB with chromosomal disease. However, isolated AHNB with low risk in biochemical screening is rarely associated with aneuploidy. In contrast, a significant no of fetuses yielded abnormal chromosome results when AHNB was associated with high risk in biochemical screening, additional aneuploidy markers or associated anomalies.


Hypoplastic nasal bone, Aneuploidy, Biochemical screening-combined test, Quadruple test, Invasive test-Chorion villus sampling, Amniocentesis

Full Text:



Dash P, Puri RD, Goyal M, Bijarnia S, Lall M, Kotecha U, et al. Absent/Hypoplastic Fetal Nasal Bone and its association with Aneuploidies. J. Fetal Med. 2015;2:75-8.

Cicero S, Longo D, Rembouskos G, Sacchini C, Nocolaides KH. Absent Nasal bone at 11-14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol. 2003;22:31-5.

Sonek JD, Cicero S, Neiges R, Nicolaides KH. Nasal Bone Assessment in prenatal screening for Trisomy 21. Am J Obstet Gynecol. 2006;195:1219-30.

Odibo AO, Sehdev HM, Stamilio DM, Cahill A, Dunn L, Macones GA. Defining nasal bone hypoplasia in second trimester Downs syndrome screening: does the use of multiples of median improve screening efficacy? Am J Obstet Gynecol. 2007;197:361.

Suwanrath C, Pruksanusak N, Kor-anantakul O, Suntharasaj T, Hanprasertpong T, Pranpanus S. Reliability of fetal nasal bone length measurement at 11-15 weeks of gestation. BMC Pregnancy and child birth. 2013;13:7.

Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of Nasal bone in fetuses with Trisomy21 at 11-14 weeks of gestation: an observational study. Lancet. 2001;358:1665-7.

Bandeppa H N , Prathima R . Mid second Trimester measurement of Nasal bone length in the Indian Population. The Journal of obstetrics and Gynecology of India. 2013; 63: 256-259.

Sepulveda W, Wong AE, Marinez-Ten P, Perez-Pedregosa J. Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester. Ultrasound Obstet Gynecol. 2010;35:7-13.

Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41:247-61.

Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell – free DNA in maternal blood in screening for fetal Aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45:249-66.

Cicero S, Sonek JD, McKenna DS, Croom CS, Johnson L, Nicolaides KH. Nasal bone hypoplasia in Trisomy 21 at 15-22 weeks’ gestation. Ultrasound Obstet Gynecol. 2003;21:15-8.

Otaño L, Aiello H, Igarzábal L, Matayoshi T, Gadow EC. Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn. 2002;22:930-2.

Odibo AO, Sehdev HM, Dunn L, McDonald R, Macones GA. The association between fetal nasal bone hypoplasia and Aneuploidy. Obstet Gynecol. 2004;104:1229-33.

Cicero S, Bindra R, Rembouskor G, Spencer K, Nicolaides KH. Integrated ultrasound and Biochemical screening for Trisomy 21 using Fetal Nuchal translucency, absent fetal nasal bone, free beta- hcg and PAPP-A at 11-14 weeks. Prenat Diagn. 2003;23:306-10.

Dukhovny S, Wilkins-Haug L, Shipp TD, Benson CB, Kaimal AJ, Reiss R. Absent Fetal Nasal bone. What does it mean for the Euploid Fetus? J Ultrasound Med. 2013;32:2131-4.

Orlandi F, Bilardo CM, Campogrande M, Krantz D, Hallahan T, Rossi C, et al. Measurement of Nasl Bone length at 11-14 weeks of pregnancy and its potential role in Downs syndrome risk assessment. Ultrasound Obstet Gynecol. 2003;22:33-9.

Sonek J. Nasal Bone in screening for Trisomy 21: Defining hypoplasia. Am J Obstet Gynecol. 2007;10:335-6.