title: Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.
abstract: 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 three-dimensional 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.
authors: Department of Obstetrics and Gynecology, Shiga University of Medical Science, Ohtsu, Japan. tetsuono@belle.shiga-med.ac.jp
authors: Tetsuo
authors: T
authors: Ono
authors: Daisuke
authors: D
authors: Katsura
authors: Shunichiro
authors: S
authors: Tsuji
authors: Hiroko
authors: H
authors: Yomo
authors: Akiko
authors: A
authors: Ishiko
authors: Takashi
authors: T
authors: Inoue
authors: Nobuyuki
authors: N
authors: Kita
authors: Kentaro
authors: K
authors: Takahashi
authors: Takashi
authors: T
authors: Murakami
mesh_terms: D000328:Adult; D004480:Ectromelia / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D038061:Lower Extremity Deformities, Congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D036542:Tomography, Spiral Computed / Q000379:methods*