Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

BACKGROUND: This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia. METHODS: A total of 30 cases of fetal skeletal dysplasia detected with ultrasound between January 2014 and June 2017 were analyzed. Among these fetuses, 15 fetuses had local skeletal malformations, while 15 fetuses had short limb malformations. Samples of fetal umbilical cord blood, amniotic fluid, and/or aborted tissue were collected from all cases. Karyotyping, whole genome sequencing, and targeted next-generation sequencing of skeletal disease-related pathogenic genes were performed, as needed. Blood samples were taken from the parents for verification using Sanger sequencing. RESULTS: Among the 30 cases of fetal skeletal dysplasia, two cases were diagnosed with trisomy 18. However, none of these cases were identified with any microdeletions or microreplications associated with skeletal dysplasia. Among the 28 chromosomally normal cases with fetal skeletal dysplasia, 21 cases were detected with mutations in genes related to skeletal diseases. Furthermore, collagen gene mutations were detected in six fetuses with short limb malformations, while heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were detected in seven fetuses. The remaining fetuses carried mutations in other various genes, including tumor protein p63 (TP63), cholestenol delta-isomerase (EBP), cholinergic receptor nicotinic gamma subunit (CHRNG), filamin B (FLNB), and SRY-box 9 (SOX9). Three compound heterozygous mutations in CHRNG, COL11A2 and SOX9 were carried by phenotypically healthy parents. CONCLUSION: Targeted next-generation sequencing can significantly improve the prenatal diagnoses of fetal skeletal dysplasia, providing parents with more precision medicine, and improved genetic counseling.

[Applications of laparoscopic ultrasound in gynecological surgery].

OBJECTIVE: To evaluate the application value of laparoscopic ultrasonography (LUS) in gynecological surgery. METHODS: Retrospective analyses were performed for 52 cases undergoing LUS during laparoscopic extirpation/excision of gynecological tumors. Aloka 7.5-MHz laparoscopic probe was used to detect the residual lesions during laparoscopic operations. The findings of LUS were compared with those of preoperative transvaginal ultrasound and postoperative pathohistological examinations. RESULTS: Preoperative diagnoses were corrected by LUS in 9 cases. And 34 residual lesions located by LUS were successfully removed. CONCLUSION: With a high detection rate and diagnostic accuracy rate in the diagnosis of gynecologic disease, LUS can locate invisible lesions during laparoscopic operations and provide guidance for radical tumor removal. It is a safe and valuable assistance for gynecologic surgery.