Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy.20231130160358

Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy.

Chen CP, Ko TM, Chen SW, et al. Taiwan J Obstet Gynecol. 2023;62(3):457-460. doi:10.1016/j.tjog.2023.03.008. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Taiwan, RAAs

  • “We present low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing (NIPT) for trisomy 9, maternal uniparental disomy (UPD) 9, intrauterine growth restriction (IUGR) and a favorable fetal outcome in a pregnancy.”
Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.20231130155741

Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.

Chen CP, Wu FT, Chern SR, et al. Taiwan J Obstet Gynecol. 2023;62(4):571-576. doi:10.1016/j.tjog.2023.05.002. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Taiwan, RAAs

  • “Mosaic trisomy 2 at prenatal diagnosis should alert the possibility of UPD 2 and include a UPD 2 testing. Low-level mosaic trisomy 2 at amniocentesis can be associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.”
Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line.20231130155607

Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line.

CP, Wu FT, Chen YY, et al. Taiwan J Obstet Gynecol. 2023;62(4):597-601. doi:10.1016/j.tjog.2023.05.008. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Taiwan, RAAs

“Mosaic trisomy 16 at amniocentesis can be associated with positive NIPT for trisomy 16, placental trisomy 16, IUGR [intrauterine growth restriction], IUFD [intrauterine fetal demise], cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line.”

Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome20231101215003

Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome

Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome. Chen CP. Taiwan J Obstet Gynecol. 2023;62(5):782-783. doi:10.1016/j.tjog.2023.07.028. Learn more

  • NIPT at 13 weeks revealed a result suspicious of T7. Amniocentesis at 19 weeks revealed a karyotype of 46,XX; parental karyotypes were normal; QF-PCR (quantitative fluorescence polymerase chain reaction) analysis on DNA extracted from uncultured amniocytes and parental bloods excluded UPD7; aCGH (array comparative genomic hybridization) on DNA extracted from uncultured amniocytes revealed the result of arr(1-22,X)x2.
  • The neonate manifested growth deficiency, persistent hypoglycemia, and psychomotor developmental delay.
  • “In conclusion, we suggest that UPD 7 testing for UPD 7 is necessary during amniocentesis in case of the NIPT result suspicious of trisomy 7.”
Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.20221130161922

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.

Li H, Lu L, Yao Y, et al. Taiwan J Obstet Gynecol. 2022;61(6):965-970. doi:10.1016/j.tjog.2022.07.006. Open Access: Learn more

Tags: Case Report / Case Series, 2022, Taiwan, RAAs

  • “Among the 16 cases [with NIPT results showing increased risk of trisomy 9], 2 cases of trisomy 9, 3 cases of trisomy 9 mosaicism, 2 cases reporting of regions of homozygosity and 9 cases of false positive were diagnosed. Among the true positive cases, 4 cases showed abnormal ultrasonic finding: 3 cases terminated pregnancy and 1 case was lost to follow-up. Another 1 case was in utero fetal demise in the second trimester without structural abnormality, and 2 cases were normal live birth without developmental abnormalities. In the 9 cases with normal karyotyping, 1 case had termination of pregnancy and 1 case with mental retardation and poor cognitive ability, other 7 had good pregnancy outcomes.”
Cell-free DNA test for pathogenic copy number variations: A retrospective study.20211130172707

Cell-free DNA test for pathogenic copy number variations: A retrospective study.

Duan HL, Li J, Wang WJ, et al. Taiwan J Obstet Gynecol. 2021;60(6):1066-1071. doi:10.1016/j.tjog.2021.09.018. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, Taiwan, CNVs

  • Retrospective study of 29 pregnancies with prenatal diagnosis of fetal microdeletion/microduplication syndromes by CMA.
  • 24 CNVs were identified by NIPT among the 21 fetuses with pathogenic CNVs, including 20 concordant CNVs and 21 discordant CNVs. Overall detection rate of NIPT for pathogenic CNVs >2 Mb was 69%.
  • “Conclusion: Cell-free DNA test exhibited a moderate DR for pathogenic CNVs ＞2 Mb among fetuses with ultrasound abnormalities. Cell-free DNA test could provide an opportunity for early screening before the appearance of abnormalities on fetal ultrasound, while further clinical data and cost-effectiveness assessment are needed.”