Abstract

Fetal nasal bone hypoplasia in the second trimester and risk of abnormal karyotype in a population of Chinese pregnant women

Highlights

  • To evaluate the association of hypoplastic nasal bone and fetal chromosomal abnormalities in a prescreened sample of Chinese pregnant women

  • After exclusion of unqualified cases, a total of 65 (65/56707, 1.15%) fetuses with hypoplastic nasal bone were included in the analyses, among which 8 (8/65, 12.31%) were determined to have chromosomal abnormalities

  • Hypoplasia of nasal bone in association with other structural abnormalities had a higher rate of abnormal karyotypes [66.67% (6/9) vs. 9.09% (2/22), Fisher’s exact test χ2=8.256 p=0.004] compared with cases associated with other ultrasound soft markers

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Summary

Introduction

To evaluate the association of hypoplastic nasal bone and fetal chromosomal abnormalities in a prescreened sample of Chinese pregnant women. Ultrasound screening for fetal chromosomal abnormalities is an important component of prenatal diagnosis. Abnormal facial features, such as collapse of the nose bridge, ususally indicate fetal chromosomal abnormalities. There are a number of studies suggesting that fetal nasal bone hypoplasis is an indicator of Down syndrome with relatively high sensitivity and specificity [1,2,3,4]. Most of the above studies were conducted in high risk populations. Few studies have been conducted in samples representative of the general population. It is possible to include fetal nasal bone observation and measurement as a routine examination

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