遺伝子解析により出生前診断した致死性骨異形成症の1症例

概要

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We report a case of thanatophoric dysplasia diagnosed by the combination of gene analysis and ultrasonography. A 32-year-old primigravida woman was admitted at 28 weeks' gestation due to short length of fetal extremities. Because the fetus had deformed femoral bones, short-limb dwarfism was suspected. Restrition analysis and DNA sequencing revealed that the fetal cells obtained by amniocentesis had a single mutation at the nucleotide of codon in FGFR3, concordant with the gene aberration in thanatophoric dysplasia. A 2,270g female infant was delivered by cesarean section at 38 weeks due to cephalopelvic disproportion, and she died of respiratoty failure after birth.
社団法人日本産科婦人科学会の論文
2002-11-01