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.”
Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.
Mayo S, Gómez-Manjón I, Atencia G, Moreno-Izquierdo A, Escribano D, Fernández-Martínez FJ. Eur J Obstet Gynecol Reprod Biol. 2022;272:150-155. doi:10.1016/j.ejogrb.2022.03.027.
Tags: Case Report / Case Series, 2022, International, CNVs
- “We report a detection of 44.7 Mb duplication at 11p15.5-p11.2 by NIPT with a fetal fraction (FF) of only 3%. This chromosome abnormality was confirmed after amniocentesis by karyotyping and array comparative genomic hybridization on cultured fetal cells. Further parental investigation showed that the fetal chromosome abnormality was inherited from the mother who was a carrier of a balanced translocation 46,XX,t(11;X)(p11.2;q28). This case highlights the importance of expanded NIPT in the detection of fetal segmental aneuploidy. NIPT together with complementary studies can lead to the detection of parental chromosome rearrangement despite a low FF, which can impact the couple’s reproductive plans. We also reviewed other cases with chromosome rearrangement, detected by NIPT, derived from a parental reciprocal translocation.”
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.
Sahinbegovic H, Andres S, Langer-Freitag S, et al. Mol Cytogenet. 2022;15(1):16. Published 2022 Apr 2. doi:10.1186/s13039-022-00592-3. Open Access: Learn more
Tags: Case Report / Case Series, 2022, International, CNVs
- NIPT detected a 10.34 Mb terminal 15q dup (15q26.1q26.3), subsequently confirmed using karyotype, microarray, and FISH (fluorescence in situ hybridization). Karyotype results indicated an unbalanced translocation between chromosomes 15 and 18 with a final karyotype of 46,XX,der(18)t(15;18)(q26.2;q23)dn.
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.
Yu C, Tian Y, Qi L, Wang B. Mol Cytogenet. 2022;15(1):18. Published 2022 Apr 26. doi:10.1186/s13039-022-00594-1. Open Access: Learn more
Tags: Case Report / Case Series, 2022, China, RAA
- Report of a case with NIPT results positive for trisomy 8. Amniocentesis was performed and CMA results were arr 8p23.3p12(168484_29427840) ×2 hmz (29.4 Mb region of uniparental isodisomy of chromosome 8).
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.
Hu J, Yan K, Jin P, Yang Y, Sun Y, Dong M. Mol Cytogenet. 2022;15(1):39. Published 2022 Sep 1. doi:10.1186/s13039-022-00616-y. Open Access: Learn more
Tags: Case Report / Case Series, 2022, China, RAA
- Case study where NIPT identified trisomy 8 at 17 weeks with mosaic trisomy 8 confirmed by diagnostic testing.
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker chromosome.
Kleinfinger P, Brechard M, Luscan A, et al. Front Genet. 2022;13:926290. Published 2022 Sep 26. doi:10.3389/fgene.2022.926290. Open Access Learn more
Tags: Case Report / Case Series, 2022, France, CNVs
- GW-NIPT rapidly characterized supernumerary marker chromosomes for a patient in a time- and cost-effective manner – a pericentromeric 29 Mb dup (20) (p13q11.21) was identified and then confirmed by targeted FISH (fluorescence in situ hybridization).
Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.
Yu J, Chen N, Chen M, Shen M, Qian Y, Dong M. Front Genet. 2022;13:1020525. Published 2022 Oct 31. doi:10.3389/fgene.2022.1020525. Open Access: Learn more
Tags: Case Report / Case Series, 2022, China, RAAs
- “Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis.”
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.”
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports.
Peng H, Yang J, Wang D, Guo F, Hou Y, Yin A. Mol Cytogenet. 2021;14(1):44. Published 2021 Sep 20. doi:10.1186/s13039-021-00559-w. Open Access: Learn more
Tags: Case Report / Case Series, 2021, China, RAAs
- “NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries.”
- “Conclusion: NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.”
Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype.
Zhang X, Liu L, Liu Y, Pan X. Front Pediatr. 2021;9:732645. Published 2021 Oct 22. doi:10.3389/fped.2021.732645. Open Access: Learn more
Tags: Case Report / Case Series, 2021, China, RAAs
- Case report of a pregnancy with an NIPT result positive for trisomy 16. CMA of amniocytes revealed paternal UPD 16.