63例法洛四联症胎儿的产前诊断及妊娠结局分析

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions: Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.目的： 分析法洛四联症胎儿的妊娠结局，探讨法洛四联症胎儿的产前诊断及处理流程。 方法： 回顾性分析2013年11月至2017年11月于首都医科大学附属北京妇产医院进行产前诊断及行超声心动图检查诊断为法洛四联症的63例（62例为单胎，1例为双胎之一）胎儿的临床资料及围产结局。 结果： （1）研究期间共诊断63例法洛四联症胎儿，占同期妊娠总量的0.136%（63/46 352），诊断孕周为（23±3）周。50例（79%，50/63）孕妇选择引产终止妊娠。（2）57例（90%，57/63）孕妇行产前遗传学诊断，其中8例（13%，8/63）提示胎儿同时存在染色体异常，为21三体综合征6例，18三体综合征1例，22q11.2微缺失综合征1例，均于妊娠28周前终止妊娠。（3）13例（21%，13/63）不伴有遗传学异常的法洛四联症胎儿在被诊断后，其母亲选择继续妊娠；行剖宫产术分娩6例，自然分娩7例，除1例双胎之一法洛四联症胎儿分娩后死亡以外，余患病新生儿均存活并转心脏中心及时诊治，随访患儿均于出生后1个月至3岁行法洛四联症手术而痊愈。 结论： 胎儿法洛四联症主要由妊娠中期的胎儿超声心动图诊断。应对法洛四联症胎儿进行产前遗传学诊断，遗传学诊断未发现异常的法洛四联症胎儿可以继续妊娠。.