A Case of Maternal Uniparental Disomy of Chromosome 6 with Intrauterine Growth Restriction.
Feng L, Ma Y, Xu Y. Altern Ther Health Med. 2023;29(7):447-449. Open Access: Learn more
Tags: Case Report / Case Series, 2023, China, RAAs
- NIPT result of trisomy 6. FISH (fluorescence in situ hybridization) and whole exome sequencing on amniocytes revealed no abnormalities. CMA on amniocytes detected UPD 6. Ultrasound at 28 weeks gestation showed intrauterine growth restriction.
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.
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.”
Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.
Zhang F, Yin T, Tang X, et al. J Assist Reprod Genet. 2023;40(9):2233-2240. doi:10.1007/s10815-023-02896-8.
Tags: Case Report / Case Series, 2023, China, CNVs
- “NIPT results showed increased signal from chromosome 12p. Subsequent prenatal diagnostic testing by karyotype revealed 47,XY,+i(12p), and CMA displayed four copies of 12p: 12p13.33-12p11.1(173786_34835641)×4. The CNV-seq results of the fetal skin and the fetal side of placenta showed four copies of 12p13.33-p11 and an estimated chimeric duplication of 34.08 Mb (chimerism ratio: 10%) in 12p13.33-p11, respectively. However, no abnormality was detected by CNV-seq at the maternal side of placenta. Our findings suggest that a positive signal from chromosome 12p on NIPT should raise suspicion for PKS [Pallister-Killian syndrome]. With the wide application of NIPT, the true positive of incidental finding is expected to increase.”
Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing.
Benn P, Cuckle H. Clin Obstet Gynecol. 2023;66(3):536-556. doi:10.1097/GRF.0000000000000803.
Tags: Review / Meta-Analysis, 2023, International, RAAs, CNVs
- “Although nearly all noninvasive prenatal testing is currently based on analyzing circulating maternal cell-free DNA, the technical methods used vary considerably. We review the different methods. Based on validation trials and clinical experience, there are mostly relatively small differences in screening performance for trisomies 21, 18, and 13 in singleton pregnancies. Recent reports show low no-call rates for all methods, diminishing its importance when choosing a laboratory. However, method can be an important consideration for twin pregnancies, screening for sex chromosome abnormalities, microdeletion syndromes, triploidy, molar pregnancies, rare autosomal trisomies, and segmental imbalances, and detecting maternal chromosome abnormalities.”
Pregnant women’s and policymakers’ preferences for the expansion of noninvasive prenatal screening: A discrete choice experiment approach study.
Nguyen HM, Baradaran M, Daigle G, Nshimyumukiza L, Guertin JR, Reinharz D. Health Sci Rep. 2023;6(8):e1516. Published 2023 Aug 23. doi:10.1002/hsr2.1516. Open Access: Learn more
Tags: Patient Perspectives, Health Care Provider Perspectives, 2023, Canada, RAAs, CNVs
- 272 pregnant women and 24 policymakers completed the questionnaire.
- In the pregnant women group, all seven attributes were statistically significant, denoting their importance, with pregnant women placing the greatest importance on cost related to the test, followed by test performance, and degree of test result certainty.
- In the policymakers group, three attributes were statistically significant: test performance, degree of test result certainty regarding the severity of the disability, and cost related to the test.
Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.
Soukkhaphone B, Baradaran M, Nguyen BD, et al. BMJ Open. 2023;13(8):e069485. Published 2023 Aug 30. doi:10.1136/bmjopen-2022-069485. Open Access: Learn more
Tags: Health Economics, 2023, Canada, RAAs, CNVs
- Based on results of this simulation study, the most effective and most cost-effective option in almost all screening strategies is the one that includes all additional targeted conditions (SCAs, 22q11.2 deletions syndrome, large deletions/duplications >7 Mb and RATs).
- “The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.”
- “Conclusion: From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.”
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
Tian W, Yuan Y, Yuan E, et al. Eur J Med Res. 2023;28(1):304. Published 2023 Aug 30. doi:10.1186/s40001-023-01285-2. Learn more
Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs
- With NIPT-PLUS, the detection sensitivity for RATs was 80% (4/5) and PPV for RATs was 50%.
- Detection rate of NIPT-PLUS for microdeletion/microduplication syndrome (MMS) was 63.86%. The larger the MMS fragment, the higher the NIPT-PLUS detection sensitivity.
- Authors conclude that NIPT-PLUS has a high sensitivity for detecting aneuploidy and CNVs > 5Mb. CPM and fetal mosaicism are key factors leading to false negatives. Maternal chromosomal abnormalities and CPM are key factors leading to false positives. Genetic counseling before and after NIPT-PLUS is important.
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.”