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

Wang, Liangcheng; Takai, Yasushi; Baba, Kazunori; Mikami, Yuzuru; Saito, Masahiro; Horiuchi, Isao; Konno, Ryo; Takagi, Kenjiro

doi:10.1016/j.tjog.2017.04.021

Cited by 11 publications

(19 citation statements)

References 38 publications

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“…Femoral length is not used for assessing gestational age due to variability in the measurement; however, it may be useful in evaluating a fetus with a suspected skeletal dysplasia 61,71,85 …”

Section: Specifications Of the Examinationmentioning

confidence: 99%

AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days

2020

J of Ultrasound Medicine

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This practice parameter is intended to provide the medical ultrasound community with recommendations for the performance and recording of high-quality ultrasound examinations. The parameter reflects what the AIUM considers the appropriate criteria for this type of ultrasound examination but is not intended to establish a legal standard of care. Examinations performed in this specialty area are expected to follow the parameter with recognition that deviations may occur depending on the clinical situation.This specialized diagnostic examination is an extension of the standard sonographic fetal assessment described in the AIUM-ACR-ACOG-SMFM-SRU Practice Parameter for the Performance of Standard Diagnostic Obstetric Ultrasound Examinations and the American College of Obstetricians and Gynecologist practice bulletin Ultrasound in Pregnancy. 1,2 The detailed obstetric ultrasound examination in the late first trimester is an indication-driven examination for women at increased risk for fetal or placental abnormalities that are potentially detectable between 12 weeks 0 days and 13 weeks 6 days' gestation. Performance and interpretation of this examination require advanced training, knowledge, and imaging

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Section: Specifications Of the Examinationmentioning

confidence: 99%

AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days

2020

J of Ultrasound Medicine

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“…Normal BPD/FL ratios decrease to <3 during the first trimester, and then continue to decrease to <2 as the femur grows, yet in TD the femur growth is stunted from the first trimester leading to a higherthanexpected BPD/FL ratio throughout preg nancy. 18 Since such ratios can be found in other skeletal dysplasias, further ultrasonographic investigation is needed to support the diagnosis.…”

Section: Thanatophoric Dysplasiamentioning

confidence: 99%

Antenatal Diagnosis of Fetal Skeletal Malformation

Abushama¹,

Rawhani²,

Abdellatif³

2018

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Skeletal dysplasia encompasses a heterogamous group of disorders. In this disorder, there are abnormalities involving primarily the fetal skeleton and it may involve other fetal organs. These changes can be lethal or nonlethal. Over 300 types of this abnormality have been described in the literature. The incidence of this condition in the general population is small; however, it contributes significantly to prenatal mortality and morbidity. The etiology and mechanism leading to skeletal dysplasia are not fully understood. Skeletal dysplasia can be inherited as autosomal recessive, dominant, or ever as X-linked disorder and some are of somatic origin. Exposure to external teratogenic factors is a very rare cause of skeletal dysplasia. Antenatal diagnosis of this condition is not easy because of the large number of skeletal dysplasia and the ultrasound finding can overlap between different types of skeletal dysplasia. The newer technology in two-dimensional and three-dimensional ultrasound allows more meticulous studies.In this article, we will be discussing the most common lethal and nonlethal dysplasia, common methods of evaluating and diagnosing these malformations, and the new technique of noninvasive prenatal diagnosis (NIPD), which can play a major role in prenatal diagnosis of skeletal dysplasia.

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“…These deaths occur due to respiratory failure caused by reduced chest cavity capacity, lung hypoplasticity and / or brainstem compression. 2,4,8 The disease has an average prevalence of 1 / 20,000 to 1 / 12,000 in prenatal cases. The incidence of this disease among men and women is the same.3,5 Newborns with tanatophoric dysplasia usually die at birth or some time after birth.…”

Section: Introductionmentioning

confidence: 99%

Thanatophoric Dysplasia

Basyir

Yusrawati

Khatimah

2021

AOJ

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Background: The term tanatophorik comes from the Greek word thanatophorus which means "innate death" or "bearing death". The problem that underlies this disease is the process of bone formation. This disease is associated with an autosomal dominant inherited mutation of the fibroblast growth factor 3 receptor (FGFR3) gene on the arm of chromosome 4 (4p16.3). Because FGFR3 is the main modulator in bone formation, the typical clinical features of this disease include shortening of the extremities, curved femur, clover-like skull and narrowing of the thoracic cavity.Tanatophoric dysplasia is a skeletal disorder that is "lethal" or deadly. The deaths occurred due to respiratory failure caused by reduced chest cavity capacity, hypoplastic lungs and / or brainstem compression.Destination: Reported a case of thanatophoric dysplasiaMethod: Case Report Case Report: Case 33 years old woman, with preterm parturient G1P0A0H0 35-36 weeks 1 latent phase + history of 2x laparotomy + suspected fetal tanatophoric dysplasia. On ultrasound examination, it was found that BPD = 9.14 cm; AC = 30.56 cm; HC = 32.05 cm; FL = 2.55 cm; AFI; 9.06cm; SDAU = 1.72 cm. The presence of frontal bosing, saddle nose and micromilia (proximal, distal, phalanges) was found. The patient was planned for vaginal delivery and the progress of labor was followed. Patients provided informed consent regarding the possibility of fetal death during labor and after birth. During the active phase of the labor process, hypotony uterine innersia occurs and oxytocin drip is performed to accelerate labor. The baby was born male, weight 2175 grams, body length 34 cm and A / S: 1/0. Postmortem physical examination revealed macroscopic findings of tanatophoric dysplasia infants such as hypertelorism, low nasal bridge, cranio-facial disproportion. Narrow chest with protruding abdomen and short, bent limbs.Conclusion: Tanatophoric dysplasia is "lethal" skeletal dysplasia. Careful prenatal examination is required in diagnosis and termination of pregnancy. Keywords: Thanatophoric dysplasia, prenatal diagnosis

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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

Abstract: The BPD/FL ratio may be used to detect lethal skeletal dysplasias such as thanatophoric dysplasia since the first trimester.

Cited by 11 publications

References 38 publications

AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days

AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days

Antenatal Diagnosis of Fetal Skeletal Malformation

Thanatophoric Dysplasia

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