Résumé
<p><b>OBJECTIVE</b>To investigate the clinical value of gnome-wide chromosome microarray (CMA) technique in genetic etiological diagnosis of fetal cerebral ventriculomegaly.</p><p><b>METHODS</b>A retrospective analysis was conducted in 109 women with singleton pregnancy, who were admitted in Nanfang Hospital with the diagnosis of cerebral ventriculomegaly in the fetuses by ultrasound between January, 2014 and December, 2016. Routine karyotype analysis and chromosome microarray analysis were performed to identify the chromosomal abnormalities in the fetuses.</p><p><b>RESULTS</b>Karyotype analysis detected chromosomal abnormalities at a rate of 12.84% in these fetuses, significantly lower than the rate of 26.60% with CMA technique (P=0.004); the combined detection rate of the two techniques was 28.44%. In 17 cases, karyotype analysis yielded normal results while CMA microarray showed abnormalities with an extra abnormal detection rate of 15.60%. Among the 17 fetuses with chromosomal abnormalities, 6 had micro-deletion, 9 had micro-duplication, 1 had both micro-deletion and micro-duplication, and 1 had heterozygous loss of single parent diploid.</p><p><b>CONCLUSION</b>CMA technique can be used to detect abnormal chromosomal copy numbers in fetuses with cerebral ventriculomegaly to increase the detection rate of chromosomal abnormalities and facilitate prenatal consultation and prognostic evaluation.</p>
Résumé
<p><b>OBJECTIVE</b>To investigate the correlation between fetal chromosomal abnormalities and the characteristic features of prenatal ultrasound findings.</p><p><b>METHODS</b>A total of 510 cases were underwent chromosome examination by amniotic fluid or cord blood analysis to identify fetal chromosomal abnormalities. The correlation between the abnormalities and the characteristics of the prenatal ultrasound findings was analyzed.</p><p><b>RESULTS</b>Fifty-three cases of abnormal karyotypes were detected with a positivity rate of 10.2%. Of these cases, 32 cases had chromosome number abnormalities, including 15 with 21-trisomy, 11 with 18-trisomy, 2 with 13-trisomy, 2 with 45, XO monomer and 2 with 92, XXXX tetraploid. Chromosome structural abnormalities were found in 21 cases, including 4 with translocation, 3 with insertion, 6 with inversion, 4 with deletion and 4 with derivation. Prenatal ultrasound showed obvious structural abnormalities in 22 cases (41.5%), structural malformation with ultrasonographic soft markers in 18 cases (34.0%), and separate ultrasonographic soft markers in 8 cases (15.1%).</p><p><b>CONCLUSION</b>Prenatal ultrasound fetal abnormalities and chromosome abnormalities are closely related. Prenatal ultrasound of fetal chromosomal abnormalities usually presents with a variety of significant structural abnormalities. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers.</p>