Abstract

Objective To study the clinical significance of increment of nuchal translucency thickness (NT) at 11-13+ 6 gestational weeks, and provide information for genetic counseling. Methods Increment NT of 68 pregnant women collected by prenatal ultrasonic B in the Huibei Maternal and Child Health Hospital from March 2008 to June 2011, 47 of which with increment of NT were suggested to perform amniocentesis chromosomal karyotypes analysis were under followed-up. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Hubei Maternal and Child Health Hospital. Informed consent was obtained from all participates. Results The karyotype was abnormal in 14.89% (7/47) of the cases and normal in 85.11%. In cases with normal karyotype, 15.00% (6/40) presented structural abnormalities, 33.33% (2/6) of which consisted of heart defects. There had significant difference of abnormal rate by prenatal ultrasound between normal karyotype baby with increased NT (15.00%, 6/40) and normal NT baby (2.13%, 40/1875). Conclusions In cases with increased NT thickness, the frequency of aneuploid and fetal malformations, especially heart defects raised. There is a large group of increased NT with chromosomally normal fetuses that eventually develop into healthy neonates. Key words: ultrasound; nuchal translucency; chromosomal aberration; congenital malformation; counseling

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