{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T21:41:10Z","timestamp":1768254070831,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T00:00:00Z","timestamp":1704153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Ultrasound Medicine"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6\u00b0. All cases of isolated fetal micrognathia in the initial scans were non\u2010isolated in the following scans. A total of 78.9% (15\/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>IFA is a useful indicator and three\u2010dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jum.16379","type":"journal-article","created":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T16:10:24Z","timestamp":1704211824000},"page":"491-499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Diagnosis of Fetal Micrognathia at 11\u201320\u2009Weeks of Gestation"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3372-7244","authenticated-orcid":false,"given":"Siqi","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Guangzhou Women and Children's Medical Center  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanhua","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Ultrasonics Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaxin","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruchun","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Longgang District Maternity &amp; 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