Prenatal diagnosis of spondylothoracic dysplasia (Jarcho-Levin syndrome) by ultrasound / 대한산부인과학회잡지

The Jarcho-Levin syndrome (spondylothoracic dysplasia) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects. The small size of thorax in newborns frequently leads to respiratory insufficiency and death in neonates or infancy. We reports the prenatal diagnosis using ultrasonography of a fetus affected with spondylothoracic dysplasia, or Jarcho-Levin syndrome, in patient without a positive family history for this condition.

Prenatal diagnosis of spondylothoracic dysplasia (Jarcho-Levin syndrome) by ultrasound / 대한산부인과학회잡지

The Jarcho-Levin syndrome (spondylothoracic dysplasia) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects. The small size of thorax in newborns frequently leads to respiratory insufficiency and death in neonates or infancy. We reports the prenatal diagnosis using ultrasonography of a fetus affected with spondylothoracic dysplasia, or Jarcho-Levin syndrome, in patient without a positive family history for this condition.

Cordocentesis: Clinical Analysis of 112 Procedures / 대한산부인과학회잡지

OBJECTIVE: This study was performed to assess the safety and efficacy of the diagnostic cordocentesis in prenatal diagnosis. METHODS: Between March 1998 and February 2002, percutaneous umblical cord blood samplings under the ultrasonographic guidance were performed in 112 patients. We reviewed the medical records of 112 patients who were performed cordocentesis. RESULTS: Gestational age ranged between 17 and 36 weeks. The mean maternal age was 29.6 years and the mean gestational age at the time of cordocentesis was 27.8 weeks. Among the patients, 83 cases (74.1%) were done with the indication of abnormal sonographic finding and followed by rapid karyotyping. Pure fetal blood was successfully obtained in 105 cases of 112 cordocentesis (93.8%). 99 cases (88.4%) were done successfully at the first attempt. Chromosomal abnormalities were found in 9 of 103 fetuses (8.7%). Abnormal chromosomal patterns were found in 8 of 70 fetuses (11.4%) with structural anomalies detected by ultrasonography. The procedure-related complication, fetal bradycardia occured in 3 cases (2.7%). CONCLUSION: We conclude that cordocentesis is a useful, relatively safe, and effective procedure for prenatal diagnosis.