Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 408-411, December 2009

Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

  • Chin-Yi Lin

      Affiliations

    • Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
    • Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Division of Genetics, Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • ,
  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taichung, Taiwan
    • Department of School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Institute of Clinical and Community Health Nursing, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan
    • ,
  • Chiung-Ling Liau

      Affiliations

    • Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Pen-Hua Su

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • ,
  • Teng-Fu Tsao

      Affiliations

    • Department of Medical Imaging, Chung Shan Medical University Hospital, Taichung, Taiwan
    • School of Medical Imaging and Radiological Sciences, Chung Shan Medical University, Taichung, Taiwan
    • ,
  • Tung-Yao Chang

      Affiliations

    • Taiji Fetal Medicine Center, Taipei, Taiwan
    • ,
  • Wayseen Wang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Bioengineering, Tatung University, Taipei, Taiwan

Accepted 12 August 2009.

Article Outline

Summary 

Objective

To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus.

Case Report

A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis.

Conclusion

Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.

Key Words:  chromosome 17p13.3 deletion , lissencephaly , magnetic resonance imaging , Miller-Dieker syndrome , ultrasound , ventriculomegaly

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PII: S1028-4559(09)60332-6

doi:10.1016/S1028-4559(09)60332-6

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 408-411, December 2009

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