Volume 48, Issue 4, Pages 408-411 (December 2009)

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ABSTRACT

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

Accepted 12 August 2009.

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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Article Outline

• Summary

• References

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References

1. 1 Reiner O , Carrozzo R , Shen Y , et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats . Nature . 1993;364:717–721 . MEDLINE | CrossRef

2. 2 Cardoso C , Leventer RJ , Ward HL , et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 . Am J Hum Genet . 2003;72:918–930 . MEDLINE | CrossRef

3. 3 Jones KL . Miller-Dieker syndrome . In: Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 208–209 .

4. 4 Chen CP . Chromosomal abnormalities associated with omphalocele . Taiwan J Obstet Gynecol . 2007;46:1–8 . Abstract | Full-Text PDF (91 KB) | CrossRef

5. 5 Chen CP . Syndromes, disorders and maternal risk factors associated with neural tube defects (V) . Taiwan J Obstet Gynecol . 2008;47:259–266 . Abstract | Full-Text PDF (169 KB) | CrossRef

6. 6 Fong KW , Ghai S , Toi A , Blaser S , Winsor EJ , Chitayat D . Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre-and postnatal magnetic resonance imaging . Ultrasound Obstet Gynecol . 2004;24:716–723 . MEDLINE | CrossRef

7. 7 Ghai S , Fong KW , Toi A , Chitayat D , Pantazi S , Blaser S . Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development . Radiographics . 2006;26:389–405 . CrossRef

8. 8 Greenberg F, Courtney KB, Wessels RA, Huhta J, Carpenter RJ, Rich DC, et al. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly . Am J Med Genet . 1988;31:1–4 . MEDLINE | CrossRef

9. 9 Saltzman DH , Krauss CM , Goldman JM , Benacerraf BR . Prenatal diagnosis of lissencephaly . Prenat Diagn . 1991;11:139–143 . MEDLINE | CrossRef

10. 10 Blaas HG , Eik-Nes SH , Kiserud T , van der Hagen CB , Smedvig E . Lissencephaly, type I . Available at: http://www.thefetus.net/page.php?id=125 [Date accessed: 31 July 2009] .

11. 11 Okamura K , Murotsuki J , Sakai T , Matsumoto K , Shirane R , Yajima A . Prenatal diagnosis of lissencephaly by magnetic resonance image . Fetal Diagn Ther . 1993;8:56–59 . MEDLINE | CrossRef

12. 12 McGahan JP , Grix A , Gerscovich EO . Prenatal diagnosis of lissencephaly: Miller-Dieker syndrome . J Clin Ultrasound . 1994;22:560–563 . MEDLINE | CrossRef

13. 13 Chitayat D , Toi A , Babul R , et al. Omphalocele in Miller-Dieker syndrome: expanding the phenotype . Am J Med Genet . 1997;69:293–298 . MEDLINE | CrossRef

14. 14 Greco P, Resta M, Vimercati A, Dicuonzo F, Loverro G, Vicino M, et al. Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging . Ultrasound Obstet Gynecol . 1998;12:276–279 . MEDLINE

15. 15 Pastorino D , Prefumo F , Rossi A , et al. Apparently isolated borderline ventriculomegaly and lissencephaly . Prenat Diagn . 2007;27:483–484 . MEDLINE | CrossRef

16. 16 Lenzini E , D'Ottavio G , Città A , Benussi DG , Petix V , Pecile V . Prenatal diagnosis of Miller-Dieker syndrome by ultra-sound and molecular cytogenetic analysis . Clin Genet . 2007;72:487–489 . CrossRef

17. 17 Aslan H , Gungorduk K , Yildirim D , Aslan O , Yildirim G , Ceylan Y . Prenatal diagnosis of lissencephaly: a case report . J Clin Ultrasound . 2009;37:245–248 . CrossRef

a Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan

b Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan

c Division of Genetics, Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan

d Department of Obstetrics and Gynecology, Taipei, Taiwan

e Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

f Department of Biotechnology, Asia University, Taichung, Taiwan

g Department of School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan

h Institute of Clinical and Community Health Nursing, Taipei, Taiwan

i Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan

j Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan

k Department of Medical Imaging, Chung Shan Medical University Hospital, Taichung, Taiwan

l School of Medical Imaging and Radiological Sciences, Chung Shan Medical University, Taichung, Taiwan

m Taiji Fetal Medicine Center, Taipei, Taiwan

n Department of Bioengineering, Tatung University, Taipei, Taiwan

Correspondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

PII: S1028-4559(09)60332-6

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

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