Nadel A, Bromley B, Benacerraf B R
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Obstet Gynecol. 1993 Jul;82(1):43-8.
To elucidate the relationship between nuchal abnormality, karyotype, and prognosis in fetuses with nuchal thickening or cystic hygroma observed between 10-15 weeks' gestation.
We reviewed all cases of fetal nuchal thickening (4 mm or greater) in 10-15-week fetuses over a 5-year period. Generalized hydrops and the presence of other anomalies were noted prospectively. We retrospectively measured the nuchal area and determined whether septations were present. Data consisted of karyotype, pathologic studies, and clinical follow-up of live-born infants.
Of 100 consecutive fetuses, 29 were excluded because of pregnancy termination without karyotype or pathologic information. Of the remaining 71 fetuses, 63 had karyotyping. Abnormal karyotypes were found in 31 of 37 hydropic fetuses but in only 12 of 26 nonhydropic fetuses (P < .05). Fetuses with Turner syndrome had larger cystic hygromas than those with trisomy 18, trisomy 21, or normal karyotype (P < .05). There were ten normal live-born infants, none of whom was hydropic at the time of initial diagnosis and all of whom demonstrated spontaneous resolution of the nuchal thickening on subsequent sonograms.
Fetuses with nuchal thickening or cystic hygromas demonstrated by ultrasound should have their karyotype determined. If the karyotype is normal and there are no hydrops or septations, the prognosis is good.
阐明孕10 - 15周时观察到的胎儿颈部异常、核型与预后之间的关系。
我们回顾了5年期间孕10 - 15周胎儿颈部增厚（4毫米或更厚）的所有病例。前瞻性记录全身性水肿及其他异常情况的存在。我们回顾性测量颈部面积并确定是否存在分隔。数据包括核型、病理研究以及活产婴儿的临床随访情况。
在连续的100例胎儿中，29例因终止妊娠且无核型或病理信息而被排除。在其余71例胎儿中，63例进行了核型分析。37例水肿胎儿中有31例核型异常，而26例非水肿胎儿中只有12例核型异常（P < 0.05）。患有特纳综合征的胎儿比患有18三体、21三体或核型正常的胎儿有更大的颈部水囊瘤（P < 0.05）。有10例正常活产婴儿，初始诊断时均无水肿，后续超声检查显示所有婴儿颈部增厚均自发消退。
超声显示颈部增厚或有颈部水囊瘤的胎儿应进行核型分析。如果核型正常且无水肿或分隔，预后良好。
