{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T23:00:49Z","timestamp":1789340449501,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Absent or hypoplastic nasal bone (AHNB) on first or second\u2010trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>This was a prospective observational study. All patients who reported with AHNB in the first\u2010 or second\u2010trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The incidence of AHNB in our study was 1.16% (47\/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty\u2010nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4\/47) and 0.42% (17\/4004) in fetuses with nasal bone present. This difference was statistically significant (<jats:italic>p<\/jats:italic>\u2009=\u2009.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2348","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T12:44:09Z","timestamp":1716813849000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Absent or hypoplastic nasal bone: <scp>What<\/scp> to tell the prospective parents?"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3487-3227","authenticated-orcid":false,"given":"Shreya","family":"Das","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7788-2502","authenticated-orcid":false,"given":"Charu","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taruna","family":"Yadav","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3764-2424","authenticated-orcid":false,"given":"Kalika","family":"Dubey","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4612-6533","authenticated-orcid":false,"given":"Shashank","family":"Shekhar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5286-3826","authenticated-orcid":false,"given":"Pratibha","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9375-3233","authenticated-orcid":false,"given":"Kuldeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8400-0873","authenticated-orcid":false,"given":"Meenakshi","family":"Gothwal","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5413-3074","authenticated-orcid":false,"given":"Manisha","family":"Jhirwal","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2117-7249","authenticated-orcid":false,"given":"Dolat Singh","family":"Shekhawat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences  Jodhpur India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12364"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jog.15486"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD003252.pub2"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13224-021-01496-9"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2019.08.049"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.5858\/2006-130-947-CHSRAR"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1706537"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.31"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.793"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.170"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.10.414"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40556-019-00196-9"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13263"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.32.12.2131"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5812"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000450996"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15945"},{"key":"e_1_2_10_19_1","unstructured":"Government of India (GOI). (2021).The Medical Termination of Pregnancy Act [Act No. 8 2021]. New Delhi Ministry of Law & Justice.https:\/\/prsindia.org\/files\/bills_acts\/acts_parliament\/2021\/Medical%20Termination%20of%20Pregnancy%20Amendment%20Act%202021.pdf"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5410"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2021\/48190.14693"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00275"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2006.00429.x"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11061513"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1479-828X.2010.01226.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1447"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13228"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13224-012-0335-5"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.16821"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32042-7"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2021.06.079"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-0528.2003.00025.x-i1"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6376"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24888"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2022.2070271"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22877"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.41"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2770"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-019-0462-0"},{"key":"e_1_2_10_40_1","unstructured":"The Fetal Medical Foundation. (2023).Nasal bone | FMF Certification | Welcome to the Fetal Medicine Foundation. Retrieved July 3 2023 fromhttps:\/\/fetalmedicine.org\/fmf-certification-2\/nasal-bone"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S322359"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.2348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T05:53:25Z","timestamp":1717048405000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.2348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/bdr2.2348"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.2348","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"2023-09-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2348"}}