Gosden C, Rodeck C H, Nicolaides K H, Campbell S, Eason P, Sharp J C
Br J Obstet Gynaecol. 1985 Sep;92(9):915-20. doi: 10.1111/j.1471-0528.1985.tb03070.x.
Prenatal karyotyping using stimulated fetal blood lymphocytes was undertaken in 170 pregnancies between 16 and 36 weeks gestation for the following reasons--mosaicism or marker chromosomes found in amniotic fluid culture; a family history of X-linked mental retardation with fragile Xq28; fetal abnormalities detected ultrasonographically; late booking or amniotic fluid culture failure in patients with advanced age or balanced translocations; and twin pregnancies discordant for a chromosomal anomaly. Forty-one karyotypic abnormalities were detected (24%). These were: 45,X (7 cases), trisomy 13 (5 cases), trisomy 18 (6 cases), trisomy 21 (4 cases), twin pregnancy where one twin had trisomy 21 (1 case), supernumerary marker chromosome (3 cases, one of which occurred in a twin pregnancy), triploidy (3 cases), X-linked mental retardation with fragile site at Xq28 in males (6 cases), fetal erythroleukaemia (3 cases including 2 cases with Turner's), Fanconi's anaemia (1 case), unbalanced chromosome translocation 47,XY+der22,t(11;22) mat (1 case), mos 46,XX18p-/46,XX,-18+i(18q) (1 case), 46,XXdel(2q) (1 case), and 46,XYt(5;17) de novo (1 case). In fetuses at high risk of a chromosome aberration, a rapidly obtained karyotype is helpful and fetoscopy and fetal blood sampling are justified in the second or third trimester.
对170例妊娠16至36周的孕妇进行了产前核型分析，采用刺激胎儿血淋巴细胞技术，原因如下：羊水培养中发现嵌合体或标记染色体；有X连锁智力低下伴脆性Xq28的家族史；超声检查发现胎儿异常；高龄或平衡易位患者晚期预约或羊水培养失败；以及染色体异常不一致的双胎妊娠。共检测到41例核型异常（24%）。这些异常包括：45,X（7例）、13三体（5例）、18三体（6例）、21三体（4例）、双胎妊娠其中一胎为21三体（1例）、额外标记染色体（3例，其中1例发生在双胎妊娠）、三倍体（3例）、男性X连锁智力低下伴Xq28脆性位点（6例）、胎儿红白血病（3例，包括2例特纳综合征）、范可尼贫血（1例）、不平衡染色体易位47,XY+der22,t(11;22) mat（1例）、mos 46,XX18p-/46,XX,-18+i(18q)（1例）、46,XXdel(2q)（1例）以及46,XYt(5;17)新发（1例）。对于染色体畸变高危胎儿，快速获得核型分析结果很有帮助，在孕中期或孕晚期进行胎儿镜检查和胎儿采血是合理的。
