Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound...

To explore and evaluate the value of chromosomal microarray analysis (CMA) in fetuses with abnormal ultrasound soft markers.

A retrospective study was conducted on 193 fetuses with abnormal ultrasound soft markers who received prenatal diagnosis at Meizhou People's Hospital, between October 2022 and February 2024. Genetic detection of fetal specimens obtained by ultrasound-guided puncture was carried out. The detection rates of karyotype analysis and CMA for chromosomal abnormalities in different ultrasonic abnormalities were analyzed.

Of the 193 fetuses, there were 77 (39.9%) fetuses with increased nuchal translucency(NT) thickness, 33 (17.1%) with ventriculomegaly, 29 (15.0%) with nasal bone hypoplasia, followed by choroid plexus cyst, pyelic separation, echogenic bowel, single umbilical artery, with persistent left superior vena cava, and persistent right umbilical vein. Aneuploidy was mainly found in fetuses with increased NT thickness or and nasal bone hypoplasia, while P/LP CNVs were mainly concentrated in fetuses with increased NT thickness or ventriculomegaly. The detection rate of karyotype was 5.7% (11/193), the detection rate of aneuploidy plus P/LP CNVs in fetuses with abnormal ultrasonic soft markers by CMA was 10.9% (21/193), and the additional detection rate of CMA was 5.2%.

CMA can significantly improve the detection rate of chromosomal abnormalities in fetuses with abnormal ultrasonic soft markers compared with karyotype analysis. There was a significant difference in detection rates of chromosomal abnormality between CMA and karyotype analysis in the single ultrasonic abnormality group, but none in the multiple ultrasonic abnormalities group.