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

Authors

  • Cini Sudhakar Prasad Department of Obstetrics and Gynecology, Amrita Centre of Excellence in Fetal Care, AMRITA Institute of Medical Sciences, Kochi, Kerala, India
  • Radhamony Kunjukutty Department of Obstetrics and Gynecology, Amrita Centre of Excellence in Fetal Care, AMRITA Institute of Medical Sciences, Kochi, Kerala, India
  • Vivek Krishnan Department of Fetal Medicine and Perinatology, Amrita Centre of Excellence in Fetal Care, AMRITA Institute of Medical Sciences, Kochi, Kerala, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20204819

Keywords:

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

Abstract

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.

References

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.

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Published

2020-10-27

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Original Research Articles