Weiner Zeev, Goldstein Israel, Bombard Allan, Applewhite Liat, Itzkovits-Eldor Joseph
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.
Am J Obstet Gynecol. 2007 Aug;197(2):181.e1-5. doi: 10.1016/j.ajog.2007.03.057.
The purpose of this study was to evaluate the ability to screen for structural fetal anomalies during the nuchal translucency (NT) ultrasound examination, without performing a complete anatomic fetal scan, by using the sagittal views of the fetus.
In a prospective study, we evaluated all the suspected structural findings observed during the NT examinations performed in our Division of Maternal-Fetal Medicine in 2004-2005. The purpose of the examination was to screen for fetal chromosome abnormalities by using the fetal NT measurements. However, the sonographers were instructed to pay attention to any abnormality observed while obtaining the sagittal views of the fetus. Other views were not to be obtained and fetal anatomy scan was performed only if a structural fetal anomaly was suspected when viewing the fetus in sagittal planes. When a structural fetal anomaly was suspected, a fetal anatomy scan was performed, and then a diagnosis was established at 14-16 weeks' gestation or later.
We performed 1723 NT examinations during the study period. The sonographers suspected structural fetal anomalies in 22 cases (1.3%), most of them performed between 11.2 and 13 weeks' gestation. Further evaluation of these cases diagnosed 9 fetuses (0.52%) with structural anomalies including: acrania, holoprosencephaly, Dandy-Walker syndrome, cerebellar agenesis, prune belly syndrome, 2 cases of omphalocele, and 2 cases of cleft lip. The NT was abnormal (greater than 3 mm) in only 1 case (omphalocele). None of the additional 8 cases diagnosed with structural anomalies had a positive maternal serum screening result for trisomy 21. Eight of these 9 fetal structural anomalies were sonographically confirmed at 14-16 weeks' gestation and the remaining 1 was confirmed at 20 weeks' gestation. An additional 13 noncardiac structural anomalies were detected in the study group during routine fetal anatomy scan performed at 14-16 or at 18-24 weeks' gestation. Four of these 9 fetal cardiac defects (44%) were diagnosed by an early fetal echocardiography performed for an increased fetal NT.
In addition to chromosomal anomalies and congenital cardiac defects, the NT examination can provide an opportunity to screen for structural fetal anomalies when viewing within the sagittal planes of the fetus. The NT examination can be used as a screening test for those who require an early fetal anatomy scan without performing an additional early anatomy scan to all patients.
本研究的目的是评估在不进行完整胎儿解剖扫描的情况下，通过使用胎儿矢状面视图，在颈部透明带（NT）超声检查期间筛查胎儿结构异常的能力。
在一项前瞻性研究中，我们评估了2004年至2005年在我们母胎医学科进行的NT检查期间观察到的所有疑似结构异常。该检查的目的是通过测量胎儿NT来筛查胎儿染色体异常。然而，超声检查人员在获取胎儿矢状面视图时被指示要注意观察到的任何异常。不获取其他视图，仅在从矢状面观察胎儿怀疑有胎儿结构异常时才进行胎儿解剖扫描。当怀疑有胎儿结构异常时，进行胎儿解剖扫描，然后在妊娠14至16周或更晚时做出诊断。
在研究期间我们进行了1723次NT检查。超声检查人员怀疑22例（1.3%）有胎儿结构异常，其中大多数检查在妊娠11.2至13周之间进行。对这些病例的进一步评估诊断出9例（0.52%）有结构异常的胎儿，包括：无脑儿、前脑无裂畸形、Dandy-Walker综合征、小脑发育不全、梅干腹综合征、2例脐膨出和2例唇裂。仅1例（脐膨出）的NT异常（大于3mm）。另外8例诊断为结构异常的病例中，无一例孕妇血清21三体筛查结果呈阳性。这9例胎儿结构异常中的8例在妊娠14至16周时通过超声得到证实，其余1例在妊娠20周时得到证实。在研究组中，在妊娠14至16周或18至24周进行常规胎儿解剖扫描期间还检测到另外13例非心脏结构异常。这9例胎儿心脏缺陷中有4例（44%）是通过对NT升高的胎儿进行早期胎儿超声心动图诊断的。
除了染色体异常和先天性心脏缺陷外，NT检查在观察胎儿矢状面时可为筛查胎儿结构异常提供机会。NT检查可作为对那些需要早期胎儿解剖扫描但又不对所有患者进行额外早期解剖扫描的人群的一种筛查试验。
