Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Chih-Ping Chen; Tung-Yao Chang; Tan-Wei Lin; Schu-Rern Chern; Shin-Wen Chen; Shih-Ting Lai; Tzu-Yun Chuang; Wayseen Wang

doi:10.1016/j.tjog.2017.12.020

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Taiwan J Obstet Gynecol. 2018 Feb;57(1):119-122. doi: 10.1016/j.tjog.2017.12.020.

Authors

Chih-Ping Chen¹, Tung-Yao Chang², Tan-Wei Lin², Schu-Rern Chern³, Shin-Wen Chen⁴, Shih-Ting Lai⁴, Tzu-Yun Chuang⁴, Wayseen Wang⁵

Affiliations

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
² Taiji Fetal Medicine Center, Taipei, Taiwan.
³ Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
⁴ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
⁵ Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

PMID: 29458880
DOI: 10.1016/j.tjog.2017.12.020

Abstract

Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.

Case report: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus. Level II ultrasound examination at 25 weeks of gestation revealed hydrancephaly, macrocephaly, a cloverleaf skull, frontal bossing, enlarged cerebellum and cisterna magna, a narrow chest, small ribs, short straight limbs. Amniocentesis revealed a karyotype of 46,XX. FGFR3 mutation analysis using the DNA extracted from uncultured amniocytes revealed a genotype of WT/c.1948A>G (p.Lys650Glu). The result was consistent with a K650E mutation in FGFR3 and TD2. The pregnancy was subsequently terminated.

Conclusion: Fetuses with TD2 may present increased NT, early onset hydrocephalus, enlarged cerebellum and cisterna magna, and hydrancephaly on prenatal ultrasound.

Keywords: Brain anomalies; Hydrancephaly; Prenatal diagnosis; Thanatophoric dysplasia type II.

Publication types

Case Reports
Review

MeSH terms

Amniocentesis / methods
Cerebellum / abnormalities*
Cerebellum / diagnostic imaging
Cisterna Magna / diagnostic imaging*
DNA Mutational Analysis
Female
Humans
Hydranencephaly / diagnostic imaging*
Karyotype
Mutation
Pregnancy
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Skull / abnormalities*
Skull / diagnostic imaging
Thanatophoric Dysplasia / diagnostic imaging*
Ultrasonography, Prenatal / methods*

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

Thanatophoric dysplasia, type 2