[Clinical analysis of 21 cases with short fetal femur in the third trimester].

• DOI: 10.3760/cma.j.issn.0529-567x.2017.02.004
• Publication Date: 2017-02-25
• Authors: Yuan Ren; Yueyue You; Huan Zhou; L X Wang; Huifang Xu; R B Li; S J Wang; Xiongwu Xie; Yu Meng; Yanmei Lu
• Keywords: Achondroplasia; Abnormality; Etiology

Objective: To analyze the clinical features and to explore etiology of short fetal femur during third trimester. Methods: From January 2010 June 2016, 21 singleton pregnancies with detected by ultrasonography trimester were referred Chinese PLA General Hospital. Clinical data collected, karyotype or single nucleotide polymorphism microarray was carried out detect chromosomal abnormalities, FGFR3 c.1138G>A mutation detection achondroplasia (ACH) via invasive procedure, respectively. The deviation length from mean value gestational age in expressed as Z-score. difference between ACH isolated (ISF, absence associated structure abnormality genetic abnormality) then explored. Results: In fetuses, 11 had abnormal test results(52%, 11/21), including 9 cases ACH, 1 case Ellis-van Creveld Syndrome Pallister-Killian syndrome. 10 ISF fetuses (48%, 10/21), 3 growth restriction, normal small for infant 6 unexplained. median Z-scores -5.04, -3.20, more severe than (P=0.005) Conclusions: is complicated, skeletal dysplasia, abnormality, well variants development. Genetic should be considered antenatal consultation.目的： 对妊娠晚期发现的股骨短小胎儿的临床特征进行分析，并探讨其病因。 方法： 收集2010年1月至2016年6月因妊娠晚期超声检查诊断"胎儿股骨短小"就诊或转诊至解放军总医院的21例单胎妊娠孕妇的临床资料；通过侵入性产前诊断对胎儿进行染色体核型分析或单核苷酸多态性微阵列检测，明确胎儿有无染色体异常，同时行Sanger测序明确胎儿是否携带软骨发育不全（ACH）的致病基因FGFR3基因c.1138G>A突变以确诊ACH。以Z值反映胎儿股骨长度的超声测量值偏离相应孕周均值的程度，比较ACH胎儿与孤立性股骨短小（ISF；无胎儿结构畸形及遗传学检测异常）胎儿的股骨长度的差异。 结果： 21例妊娠晚期股骨短小胎儿中，11例胎儿（52%，11/21）遗传学检测发现异常，其中ACH 9例（9/21），软骨外胚层发育不全综合征1例，12号染色体短臂四体所致的Pallister-Killian综合征1例；另有ISF胎儿10例（48%，10/21），其中胎儿生长受限3例，正常的小于胎龄儿1例，原因未明的股骨短小者6例。妊娠晚期9例ACH与10例ISF胎儿股骨长度Z值的中位数分别为-5.04、-3.20；与ISF胎儿相比，ACH胎儿妊娠晚期股骨短小更为严重（P=0.005）。 结论： 妊娠晚期胎儿股骨短小的原因复杂，可能为ACH等先天性骨骼畸形、染色体异常以及胎儿生长受限等，或为胎儿生长发育过程中的正常变异，需要结合遗传学检测进行咨询。.