目的:我们介绍了胎儿的产前诊断和围产期17q12微缺失,包括胎儿双侧高回声肾脏的HNF1B,出生后有轻度肾脏异常。和文献综述。
方法:36岁,由于母亲年龄高,初产妇在妊娠17周时接受了羊膜穿刺术。对从未培养的羊膜细胞提取的DNA进行的同时阵列比较基因组杂交(aCGH)分析显示,从头1.38-Mb17q12微缺失包含LHX1和HNF1B。父母没有这样的微删除。产前超声显示双侧高回声肾脏,皮质髓质(CM)分化正常。父母选择继续怀孕,妊娠39周时,一个3180-g的男性婴儿出生。对脐带血DNA的CGH分析显示ARR[GRCh37(hg19)]17q12(34,856,055-36,248,918)×1.0,具有1.393-Mb微缺失,包括MYO19,PIGW,GGNBP2,DHRS11,MRM1,LHX1,AATF,ACACA,TADA2A,DUSP14SYNRG,DDX52和HNF1B。在2岁零4个月时进行随访时,肾脏超声显示双侧肾脏回声增强,CM分化正常,左肾囊肿小。血液检查显示BUN=28mg/dL(正常:5-18mg/dL)和肌酐=0.5mg/dL(正常:0.2-0.4mg/dL)。
结论:产前诊断中包含LHX1和HNF1B的17q12微缺失可能在胎儿超声下表现出可变的临床谱,并在出生后表现为双侧高回声肾脏和轻度肾脏异常。胎儿高回声肾的产前诊断应引起17q12微缺失综合征的怀疑。
OBJECTIVE: We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a
review of the literature.
METHODS: A 36-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed a de novo 1.38-Mb 17q12 microdeletion encompassing LHX1 and HNF1B. The parents did not have such a microdeletion. Prenatal ultrasound showed bilateral hyperechogenic kidneys with normal corticomedullary (CM) differentiation. The parents elected to continue the pregnancy, and a grossly normal 3180-g male baby was delivered at 39 weeks of gestation. aCGH analysis on the cord blood DNA revealed arr [GRCh37 (hg19)] 17q12 (34,856,055-36,248,918) × 1.0 with a 1.393-Mb microdeletion encompassing the genes of MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52 and HNF1B. When follow-up at age 2 years and 4 months, the renal ultrasound revealed bilateral increased renal echogenicity with normal CM differentiation and small left renal cysts. The blood test revealed BUN = 28 mg/dL (normal: 5-18 mg/dL) and creatinine = 0.5 mg/dL (normal: 0.2-0.4 mg/dL).
CONCLUSIONS: 17q12 microdeletion encompassing LHX1 and HNF1B at prenatal diagnosis may present variable clinical spectrum with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth. Prenatal diagnosis of fetal hyperechogenic kidneys should raise a suspicion of 17q12 microdeletion syndrome.