Welborn J L, Timm N S
Cytogenetics Laboratory, University of California, Davis, Sacramento 95817.
Am J Perinatol. 1994 Jan;11(1):19-20. doi: 10.1055/s-2007-994526.
Chromosomal aberrations are associated with 60% of cystic hygromas and the majority of these are females with a 45,X karyotype. Trisomy 21 has rarely been reported. Six cases of cystic hygromas with trisomy 21 were detected during a 6-month time period in our laboratory. An earlier gestational age of 14 weeks was present in our cases compared with a gestational age of 18 weeks reported in the literature. Because of the high rate of fetal loss prior to 16 weeks, many cases of trisomy 21 with cystic hygromas may go undetected. This suggests that cystic hygromas detected before 16 weeks of gestation may be clinically different from those detected later in gestation. With the increasing use of chorionic villus sampling and amniocentesis at 10 to 12 weeks of gestation, trisomy 21 may be a common finding in fetuses with cystic hygromas.
60%的囊状水瘤与染色体畸变有关，其中大多数是核型为45,X的女性。21-三体综合征鲜有报道。在我们实验室的6个月时间里，检测到6例患有21-三体综合征的囊状水瘤。与文献报道的18周孕龄相比，我们的病例孕龄更早，为14周。由于16周前胎儿丢失率很高，许多患有21-三体综合征和囊状水瘤的病例可能未被发现。这表明妊娠16周前检测到的囊状水瘤在临床上可能与妊娠后期检测到的不同。随着妊娠10至12周时绒毛取样和羊膜穿刺术的使用增加，21-三体综合征可能是患有囊状水瘤胎儿的常见发现。
