Author(s): Lin, CY (Lin, Chin-Yi); Chen, CP (Chen, Chih-Ping); Liau, CL (Liau, Chiung-Ling);
Su, PH (Su, Pen-Hua); Tsao, TF (Tsao, Teng-Fu); Chang, TY (Chang, Tung-Yao); Wang, WS (Wang, Wayseen)
Title: PRENATAL DIAGNOSIS OF MONOSOMY 17P (17P13.3 -> PTER) ASSOCIATED WITH POLYHYDRAMNIOS, INTRAUTERINE GROWTH RESTRICTION,
VENTRICULOMEGALY, AND MILLER-DIEKER LISSENCEPHALY SYNDROME IN A FETUS Source: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 48 (4): 408-411 DEC 2009
Language: English Document Type: Article
Author Keywords: chromosome 17p13.3 deletion; lissencephaly; magnetic resonance imaging; Miller-Dieker syndrome; ultrasound; ventriculomegaly
KeyWords Plus: ULTRASOUND
Abstract: 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 11 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. [Taiwan J Obstet Gynecol 2009;48(4):408-411]
Addresses: [Lin, Chin-Yi] Chung Shan Med Univ, Inst Med, Taichung, Taiwan; [Lin, Chin-Yi;
Liau, Chiung-Ling] Chung Shan Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan;
[Lin, Chin-Yi; Su, Pen-Hua] Chung Shan Univ Hosp, Dept Pediat, Div Genet, Taichung, Taiwan; [Chen, Chih-Ping] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;
[Chen, Chih-Ping; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan;
[Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan; [Chen, Chih-Ping]
Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan; [Su, Pen-Hua]
Chung Shan Univ Hosp, Dept Pediat, Taichung, Taiwan; [Tsao, Teng-Fu] Chung Shan Med Univ Hosp, Dept Med Imaging, Taichung, Taiwan; [Tsao, Teng-Fu] Chung Shan Med Univ, Sch Med Imaging & Radiol Sci, Taichung, Taiwan; [Chang, Tung-Yao] Tatung Univ, Taiji Fetal Med Ctr, Taipei 104, Taiwan; [Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan
Reprint Address: Chen, CP, Mackay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan N Rd, Taipei, Taiwan.
E-mail Address: [email protected] Funding Acknowledgement:
Funding Agency Grant Number
National Science Council NSC-96-2314-B-195-008-MY3 NSC-97-2314-B-195-006-MY3 Mackay Memorial Hospital, Taipei, Taiwan MMH-E-98004
This work was supported by research grants NSC-96-2314-B-195-008-MY3 and NSC-97- 2314-B-195-006-MY3 from the National Science Council, and MMH-E-98004 from Mackay Memorial Hospital, Taipei, Taiwan.
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Publisher: ELSEVIER SINGAPORE PTE LTD
Publisher Address: 3 KILLINEY ROAD 08-01, WINSLAND HOUSE 1, SINGAPORE, 239519, SINGAPORE
ISSN: 1028-4559
29-char Source Abbrev.: TAIWAN J OBSTET GYNECOL ISO Source Abbrev.: Taiwan. J. Obstet. Gynecol.
Source Item Page Count: 4
Subject Category: Obstetrics & Gynecology ISI Document Delivery No.: 540UK
