Grande M, Solernou R, Ferrer L, Borobio V, Jimenez J M, Bennasar M, Soler A, Borrell A
Department of Maternal-Fetal Medicine, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clínic Barcelona, Catalonia, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Spain.
Ultrasound Obstet Gynecol. 2014 May;43(5):520-4. doi: 10.1002/uog.13203. Epub 2014 Apr 1.
To investigate whether increased nuchal translucency (NT) in fetuses with a crown-rump length (CRL) below 45 mm needs to be re-evaluated at a later stage, or whether the early NT measurement can be used effectively as an aneuploidy marker.
This was a prospective cohort study including all singleton fetuses with a CRL between 28 and 44 mm, scanned in our center during 2002-2012. The CRL, NT, fetal karyotype (when available) and pregnancy outcome were recorded. NT reference ranges were constructed using the Lambda-Mu-Sigma (LMS) method in non-referred pregnancies after exclusion of chromosomal anomalies. The 95(th) percentile was used to calculate detection rates for chromosomally abnormal fetuses.
NT was successfully measured in 643 of 672 fetuses with a CRL of 28-44 mm. Subsequent cytogenetic analysis revealed 11 cases of trisomy 21, 14 cases of trisomy 13 or 18, three cases of monosomy X, three sex trisomies, three triploidies and 12 balanced anomalies. NT was above the 95(th) percentile in 64% of the fetuses with trisomy 21, in 71% with trisomy 13 or 18 and in all three cases of monosomy X.
NT appears to be useful as a marker for the early detection of fetal trisomies at 9-10 weeks' gestation (28-44 mm CRL).
探讨孕龄小于45毫米的胎儿颈部透明带（NT）增厚是否需要在孕晚期重新评估，或者早期NT测量能否有效地用作非整倍体标记物。
这是一项前瞻性队列研究，纳入了2002年至2012年期间在本中心接受扫描的所有孕龄28至44毫米的单胎胎儿。记录胎儿的头臀长（CRL）、NT、胎儿核型（若可得）及妊娠结局。排除染色体异常后，采用Lambda-Mu-Sigma（LMS）方法构建非转诊妊娠的NT参考范围。用第95百分位数计算染色体异常胎儿的检出率。
672例CRL为28至44毫米的胎儿中，643例成功测量了NT。后续细胞遗传学分析发现11例21三体、14例13或18三体、3例X单体、3例性染色体三体、3例三倍体及12例平衡异常。21三体胎儿中64%的NT高于第95百分位数，13或18三体胎儿中71%高于该值，所有3例X单体胎儿的NT均高于该值。
NT似乎可作为孕9至10周（CRL为28至44毫米）时早期检测胎儿三体的标记物。
