Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation

Abstract

The concomitant occurrence of 8q duplication and 13q deletion is the first to be detected by noninvasive prenatal testing (NIPT) to date. Through case analysis, we could provide a clinical approach to pregnant women with chromosomal abnormalities revealed by NIPT. The combination of traditional karyotype and copy number variation sequencing (CNV‐seq) could better locate the abnormal chromosomal region and further identify the source of fetal chromosomal abnormalities. Simultaneously, we evaluated the fetal morphology by ultrasound examination. The karyotype of the fetus was 46,XY,der(13)t(8;13)(q22;q32)mat and CNV‐seq results showed that there was an approximately 45.26‐Mb duplication in 8q22.2‐q24.3 (101040001–146 300 000) and an approximately 9.54‐Mb deletion in 13q33.2‐q34 (105560001–115 100 000). Prenatal ultrasound revealed the fetal structural abnormalities presented with hypoplasia of the cerebellar vermis, a flat nose, echogenic bowel and absent gallbladder. Herein, we consider that combination detection of traditional karyotyping, CNV‐seq and ultrasonography provides a valuable method for pregnant women with abnormal NIPT.

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

“…Correspondingly, increasing studies describe CNV alterations detected by cffDNA analysis during pregnancy and confirmed by invasive procedures. Wang et al [ 37 ] described detection of subchromosomal abnormalities in chromosomes 13 and 21 derived from the mother with a balanced translocation [46,XX,inv(9)(p12q13),t(13;21)(q31.3;q21.3)]; Mei et al [ 38 ] described a 10p15.3p13 duplication inherited from the father with a balanced translocation [46,XY,t(5;10)(q35.1;p13)]; Chen et al [ 39 ] described a duplication in 18q11.32q21.2 and a deletion in Xp22.33p11 derived from a maternal reciprocal translocation; Zheng et al [ 40 ] found a deletion in chromosome 21 of a foetus whose karyotype was 46,XN,del(21)(q11.2q22.1); and finally, Liu et al [ 41 ] described the concomitant occurrence of 8q duplication and 13q deletion in a foetus derived from a maternal balanced translocation. Similar cases have been reported for patients undergoing cffDNA analysis in maternal blood.…”