METHODS: Multiple systematic structural anomalies, including severe intrauterine growth restriction (IUGR) and cardiac defects, were detected by ultrasound in the fetus at 33 + 5 weeks\' gestation. These abnormalities may be caused by the pathogenic deleted fragment at 9q34.3, including the euchromatic histone methyltransferase 1 (EHMT1) and collagen type V alpha 1 chain (COL5A1) genes, detected by copy number variation sequencing (CNV-seq).
CONCLUSIONS: It is essential for clinicians to perform CNV-seq combined with multidisciplinary consultation for suspected KS fetuses, especially those with multiple systematic structural anomalies.
方法:多个系统结构异常,包括严重的宫内生长受限(IUGR)和心脏缺陷,在妊娠33+5周时通过超声检测到胎儿。这些异常可能是由9q34.3的致病性缺失片段引起的,包括原色组蛋白甲基转移酶1(EHMT1)和V型胶原α1链(COL5A1)基因,通过拷贝数变异测序(CNV-seq)检测。
结论:临床医生必须对疑似KS胎儿进行CNV-seq结合多学科咨询,尤其是那些有多重系统结构异常的人。