Department of Genetics, Fundación Jiménez Díaz (CIBERER), Madrid, Spain.
J Assist Reprod Genet. 2009 Aug;26(8):455-60. doi: 10.1007/s10815-009-9339-1. Epub 2009 Sep 30.
Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses.
54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD).
2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases.
Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.
在 9 年的时间里，对因 FGFR3 基因突变而出现骨骼发育不良超声表现的妊娠和流产胎儿进行产前诊断。
对 54 个样本进行了研究。对所有样本均进行了非整倍体研究。通过测序分析，我们确定了软骨发育不全症（ACH）、软骨发育不全症（HCH）以及 1 型和 2 型 tanathophoric 发育不良（TD）的突变。
2 个绒毛膜绒毛样本中存在 G380R 突变，这是一位患有 ACH 的母亲的原因；4 个羊水样本中存在 TD，胎儿有肢体短小伴胸廓发育不良；5 个流产胎儿存在 TD。散发病例中未发生 ACH 或 HCH。
对于受影响的父母、具有阳性分子研究的家族史（母亲焦虑）以及超声检查发现伴有胸廓发育不良的肢体短小的病例，建议对正在进行的妊娠进行分子研究。流产胎儿的组织应包括 X 光、病理解剖和遗传研究。
