Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

Bonnefoy, Olivier; Delbosc, J.M.; Maugey-Laulom, B.; Lacombe, Didier; Gaye, Delphine; Diard, F

doi:10.1159/000089042

Cited by 26 publications

(14 citation statements)

References 27 publications

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“…In 10/17 (59 %) fetuses (fetuses 2, 7-10, 12, 14-17) the most likely US diagnosis was changed following CT, and in 7/17 (41 %) fetuses the diagnosis was confirmed by CT prenatally. Unknown skeletal dysplasia was confirmed in three fetsues (fetuses 4,11,13). Diagnosis limited to two differential diagnoses was confirmed in two fetuses (fetus 1 and 3).…”

Section: Resultsmentioning

confidence: 83%

“…Suitable multidisciplinary prenatal counseling and fetal medicine conferences were provided based on CT diagnosis. The outcomes of pregnancies were: interruption at 21 gestational weeks (fetuses 1 and 4), vaginal delivery (fetuses 6,11,13) and Caesarean section (fetuses 2, 3, 5, 7-10, 12, 14-17). The outcomes for children were: stillbirth (fetuses 1, 4, 11), neonatal death (palliative care, fetuses 12, 15), childhood death (fetus 2 at 1.5 years of age, fetus 10 at 7 months).…”

Section: Resultsmentioning

confidence: 99%

“…However, most reports have focused on anecdotal clinical experiences [7][8][9][10][11]. There are very few studies on the diagnostic accuracy and radiation safety of this technique in a large cohort [2,3].…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

et al. 2012

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Section: Resultsmentioning

confidence: 83%

Section: Resultsmentioning

confidence: 99%

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Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

et al. 2012

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“…To make a decision not to resuscitate a neonate is difficult without clear findings, so obtaining images that parents can understand easily is important. In addition, 3D-CT is easy to perform, not time-consuming (acquisition in 10 s), and can be done without premedication (Bonnefoy et al 2006). The radiation dose for 3D-CT is estimated to be about 40.0 mGy, which is under the level causing teratogenicity.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Sirenomelia in the Late Second Trimester with Three-Dimensional Helical Computed Tomography

Ono

Katsura

Tsuji

et al. 2011

Tohoku J. Exp. Med.

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Sirenomelia is a rare congenital syndrome that is characterized by the anomalous development of the caudal region of the body. The anomalies include bilateral renal agenesis or dysgenesis and the absence of the sacrum and other vertebral defects. Sirenomelia is also known as "mermaid syndrome," because of the one lower extremity. It is usually associated with severe oligohydramnios, and its prognosis is very poor due to pulmonary hypoplasia that is caused by severe oligohydramnios. The patient referred to our hospital at the gestational age of 27 weeks with fetal growth restriction and oligohydramnios. The estimated fetal body weight was 970 g (−4.9 s.d.). We could identify only one-side extremities, and could not identify kidneys by ultrasound examination. Because a single lower extremity and severe oligohydramnios are characteristics of the sirenomelia, we suspected sirenomelia. However, it could not be confirmed by ultrasound examination because of oligohydramnios. Therefore, we performed threedimensional helical computed tomography (3D-CT), which is more accurate than ultrasound examinations for prenatal diagnosis of skeletal abnormalities. 3D-CT revealed an only one lower extremity. At 36 weeks and 5 days of gestation, the woman went into spontaneous labor and delivered an infant weighing 870 g. The infant has a single upper extremity and a single lower extremity. We provided supportive care for the neonate, who however died 1 hour 36 minutes after birth from severe respiratory distress. In summary, we report the correct diagnosis of sirenomelia with 3D-CT in the late second trimester.Keywords: congenital syndrome; oligohydramnios; second trimester diagnosis; sirenomelia; three-dimensional helical computed tomography Tohoku J. Exp. Med., 2011, 225 (2), 85-87. © 2011 Tohoku University Medical Press Sirenomelia is also known as "mermaid syndrome," and it is a rare congenital syndrome characterized by a variety of anomalies. Its incidence has been reported to be 1 in 60,000 live births (de Jonge et al. 1984). The abnormalities associated with sirenomelia include fusion, rotation, and variable atrophy or hypotrophy of the lower extremities, bilateral renal agenesis or dysgenesis, absence of the sacrum and other vertebral defects, an imperforate anus and absence of the rectum, absence of both internal and external genitalia, oligohydramnios, and vascular anomalies. Progressive oligohydramnios due to renal agenesis or dysgenesis is usually the first sign of this lethal syndrome in the second trimester, making proper skeletal evaluation difficult (Sepulveda et al. 1994). In contrast, during the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, anatomic survey of the fetus during the first trimester or early second trimester is preferable for more accurate diagnosis of this rare anomaly (Akbayir et al. 2008). However, we should diagnose sirenomelia correctly even if we examine a suspected fetus for the first time in late second trimester or third trime...

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“…Prenatal diagnosis and confirmation of a lethal disorder can lead to more appropriate perinatal management. To the best of our knowledge, although 3-D CT images are being used more frequently for prenatal diagnosis in recent years, there have been only three published reports in which 3-D CT images were used to prenatally diagnose hypochondroplasia [11] , agnathia-holoprosencephaly [12] and trisomy 18 complicated with cystic hygroma [13] . Although the risk of irradiation should be carefully balanced against the information provided, fetal doses below 100 mGy convey no known risk to the fetus [14] .…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis

Tsutsumi

Sawai²,

Nishimura³

et al. 2008

Fetal Diagn Ther

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Objective: We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks’ gestation. Methods: Prenatal sonographic examinations performed at 23 weeks’ gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. Results: A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. Conclusion: Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling.

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Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

Cited by 26 publications

References 27 publications

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

Prenatal Diagnosis of Sirenomelia in the Late Second Trimester with Three-Dimensional Helical Computed Tomography

Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis

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