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 2002-07-26-12 Answer to the case of the week #77 © Sepulveda

Answer to case #77

July 27-August 22, 2002

Sebastian Illanes, MD, Cristian Kottmann, MD, Waldo Sepulveda, MD

Department of Obstetrics and Gynecology, Hospital Parroquial, Universidad Los Andes, San Bernardo Fetal Medicine Center, Clinica Las Condes, Santiago, Chile

A 29-year-old primigravida was referred at 30 weeks’ gestation for an ultrasonographic examination to evaluate fetal growth after a positive screening for gestational diabetes. Her previous medical history was non-contributory and a first trimester scan, performed because of uncertain dates, revealed a biometry consistent with a 14-week fetus and no obvious fetal anomalies.


A local scan before a referral at 28 weeks revealed suboptimal fetal growth but normal amniotic fluid volume. At referral, the fetal growth was below the 10th centile, normal Doppler and normal amniotic fluid volume. In addition, lymphedema in all four extremities in association with a single umbilical artery was noted.


There was no nuchal thickening, and the four chamber view was reported as normal. A presumptive diagnosis of Hereditary lymphedema I . Accordingly, prenatal karyotyping was not recommended. Follow-up scans were done weekly and an elective cesarean section was performed at 37 weeks’ gestation delivering a 2900 g female fetus with Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. Lymphedema of all extremities was evident. Lymphocyrte culture confirmed a 45,X karyotype. Further neonatal evaluation revealed normal chest X-ray, and normal head and abdominal scans. Echocardiography showed a small ventricular septal defect. The infant was discharged in good condition.



However, she developed progressive right pleural effusion requiring puncture and aspiration at 1 month of age. Analysis of the aspirated fluid confirmed a chylothorax. She is currently asymptomatic and in good condition.

 Conclusion: Monosomy X

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