Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

• Main Authors: Liangcheng Wang (Author), Yasushi Takai (Author), Kazunori Baba (Author), Yukiko Mikami (Author), Masahiro Saito (Author), Isao Horiuchi (Author), Ryo Konno (Author), Kenjiro Takagi (Author), Hiroyuki Seki (Author)
• Format: Book
• Published: Elsevier, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 1028-4559; 10.1016/j.tjog.2017.04.021
• Keywords: Thanatophoric dysplasia; Biparietal diameter; Femur length; Skeletal dysplasia; Lethal skeletal dysplasia; Gynecology and obstetrics; RG1-991
• Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 3, Pp 374-378 (2017)

Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy. Materials and Methods: Twenty-four reported cases of thanatophoric dysplasia diagnosed based on ultrasonographic results with molecular or radiographic diagnosis were included. All sonographic measurement records were extracted and reviewed, and the BPD/FL ratio was calculated for each gestational week. In addition, 10,293 routine fetal biometry measurements from 1395 cases of patients without skeletal dysplasia were compared. Results: The BPD/FL ratio in the control group decreased to less than 3 prior to gestational week 13, and to less than 2 prior to week 18. Of the 27 BPD/FL ratios obtained from 24 cases of thanatophoric dysplasia, none was in the control range. Conclusion: The BPD/FL ratio may be used to detect lethal skeletal dysplasias such as thanatophoric dysplasia since the first trimester.