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

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2017
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Abstract
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.
Reference Key
wang2017taiwanesecan Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Liangcheng Wang;Yasushi Takai;Kazunori Baba;Yukiko Mikami;Masahiro Saito;Isao Horiuchi;Ryo Konno;Kenjiro Takagi;Hiroyuki Seki
Journal spermova
Year 2017
DOI
10.1016/j.tjog.2017.04.021
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