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KMID : 0606620070030010034
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Korean Journal of Fetal Medicine
2007 Volume.3 No. 1 p.34 ~ p.38
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Prenatal Diagnosis of Increased Nuchal Translucency in the Wolf-Hirschhorn Syndrome and Triple X Karyotype
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Hong Jeong-Hee
Kim Yun-Sook
Jeon Seob
Choi Seung-Do
Sunwoo Jae-Gun
Bae Dong-Han
Mun Seong-Taek
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Abstract
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The first studies showing an association between first trimester nuchal thickening and chromosomal abnormalities
came in the early 1990s, when localized nuchal fluid was considered to represent cystic hygromas with a high
propensity for the development of fetal hydrops and diffuse edema. The measurement of nuchal translucency in first
trimester is becoming more routine practice in recent years for screening Down syndrome. The association between
increased nuchal translucency and other chromosomal abnormalities is frequently cited. The Wolf-Hirschhorn syndrome
is characterized by severe growth restriction and mental retardation, distinct facial anomalies, midline defects, and other
congenital anomalies. And 47, XXX karyotype is significant phenotypic variation, amenorrhea, genitourinary tract
abnormalities, pulmonary hypoplasia, and agenesis of gallbladder. But cystic hygroma is very rare incidence in this
syndrome and karyotype.
We experienced Wolf-Hirschhorn syndrome and 47, XXX karyotype in a fetus of intrauterine pregnancy at 12+5
weeks diagnosed by prenatal increased nuchal translucency who was terminated because of ultrasonic demonstration of
hydrops. Thus, we report two cases with brief review of the literature.
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KEYWORD
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Nuchal translucency, Wolf-Hirschhorn syndrome, 47, XXX karyotype
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