Stipoljev F, Sertić J, Kos M, Misković B, Obrad-Sabljak R, Stavljenić-Rukavina A, Latin V, Kurjak A
Department of Obstetrics and Gynecology, Medical School University of Zagreb, Hospital Sveti Duh, Croatia.
J Matern Fetal Med. 1999 Mar-Apr;8(2):44-7. doi: 10.1002/(SICI)1520-6661(199903/04)8:2<44::AID-MFM2>3.0.CO;2-U.
Fetal echoic bowel can be a normal second trimester ultrasonographic finding which usually disappears by 20 weeks on serial sonograms. Recent studies have suggested a possible association of hyperechoic fetal bowel with chromosomopathies and cystic fibrosis. The aim of our study is to determine the incidence of chromosomopathies and cystic fibrosis mutations among the fetuses with isolated hyperechoic bowel.
Sixteen fetuses with isolated echoic bowel were detected: 13 fetuses < or =20 weeks gestation (group I) and 3 fetuses at 20-26 weeks gestation (group II). Cytogenetic studies were performed in all 16 cases and 11 families had deoxyribonucleic acid-based risk assessment for cystic fibrosis. The echogenity of bowel was that of surrounding bone.
Two cases of trisomy 21 and 1 case of trisomy 13 were detected (18.7%). The other ultrasonographic markers begin to appear after 21 weeks gestation in fetuses with trisomy 13. Two of 3 pregnant women with pathological karyotype were younger than 35 years. One of 11 cases (9%) was found to be a heterozygote carrier for deltaF508 mutation.
Isolated hyperechoic bowel in the second trimester was found to be associated with a significantly higher risk of fetal aneuploidy.
胎儿肠回声增强在孕中期超声检查中可能是一种正常表现，在连续超声检查中通常在孕20周时消失。近期研究提示，胎儿肠回声增强可能与染色体病及囊性纤维化有关。本研究旨在确定孤立性胎儿肠回声增强中染色体病及囊性纤维化突变的发生率。
检测出16例孤立性肠回声增强胎儿：13例妊娠≤20周（I组），3例妊娠20 - 26周（II组）。对所有16例进行细胞遗传学研究，11个家庭进行了基于脱氧核糖核酸的囊性纤维化风险评估。肠回声与周围骨骼相同。
检测出2例21 -三体综合征及1例13 -三体综合征（18.7%）。13 -三体综合征胎儿在妊娠21周后开始出现其他超声软指标。3例核型异常孕妇中有2例年龄小于35岁。11例中有1例（9%）被发现为ΔF508突变杂合子携带者。
孕中期孤立性胎儿肠回声增强与胎儿非整倍体风险显著升高有关。
