1. Newey VR, Nassiri DK, Bhide A, Thilaganathan B. Nuchal translucency thickness measurement: repeatability using a virtual ultrasound scanner. Ultrasound Obstet Gynecol 2003;21:596-601.
2. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998;352:343-6.
https://doi.org/10.1016/S0140-6736(97)11280-6
3. Krzyżanowski A, Kwiatek M, Gęca T, Stupak A, Kwaśniewska A. Modern Ultrasonography of the Umbilical Cord: Prenatal Diagnosis of Umbilical Cord Abnormalities and Assessement of Fetal Wellbeing. Med Sci Monit 2019;25:3170-80.
https://doi.org/10.12659/MSM.913762
4. Petersen OB, Smith E, Van Opstal D, Polak M, Knapen M, Diderich KEM, et al. Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. Acta Obstet Gynecol Scand 2020;99:765-74.
https://doi.org/10.1111/aogs.13877
5. Ali MM, Chasen ST, Norton ME. Testing for Noonan syndrome after increased nuchal translucency. Prenat Diagn 2017;37:750-3.
https://doi.org/10.1002/pd.5076
6. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet 2013;381:333-42.
https://doi.org/10.1016/S0140-6736(12)61023-X
7. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70-4.
https://doi.org/10.1038/ng1926
8. Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, et al. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. BMC Med Genet 2020;21:50.
https://doi.org/10.1186/s12881-020-0986-5
9. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin 2015;33:831-46.
https://doi.org/10.1016/j.ncl.2015.07.004
10. Barone C, Bianca S. Further evidence of no association between spinal muscular atrophy and increased nuchal translucency. Fetal Diagn Ther 2013;33:65-8.
https://doi.org/10.1159/000343252
11. Pearn J. Classification of spinal muscular atrophies. Lancet 1980;1:919-22.
https://doi.org/10.1016/S0140-6736(80)90847-8
12. Westin M, Saltvedt S, Almström H, Grunewald C, Valentin L. By how much does increased nuchal translucency increase the risk of adverse pregnancy outcome in chromosomally normal fetuses? A study of 16,260 fetuses derived from an unselected pregnant population. Ultrasound Obstet Gynecol 2007;29:150-8.
https://doi.org/10.1002/uog.3905
13. Gezdirici A, Ekiz A, Güleç EY, Kaya B, Sezer S, Atış Aydın A. How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? J Matern Fetal Neonatal Med. 2017;30:938-41.
https://doi.org/10.1080/14767058.2016.1191463
14. Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, et al. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer. 2006;45:583-91.
https://doi.org/10.1002/gcc.20322
15. Parra J, Tizzano EF. Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning. J Matern Fetal Neonatal Med. 2012;25:2555-8.
https://doi.org/10.3109/14767058.2012.703720
16. Lin Y, Wang, Chau MHK, Lou J, Zeng X, Liang Y, et al. Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold Austin J Obstet Gynecol 2021; 8: 1174. [
DOI:10.1002/uog.124]