Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
CONCLUSION: This study expanded the mutation spectrum of CUL7, detected the aberrant splicing event of CUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M.PMID:37877343 | DOI:10.1002/mgg3.2284 (Source: Molecular Medicine)
Source: Molecular Medicine - October 25, 2023 Category: Molecular Biology Authors: Xueqian Wang Yaqiong He Xiaorong Wang Xiangtian Kong Yunying Lin Yejie Yao Yi Huang Source Type: research
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
CONCLUSION: This study expanded the mutation spectrum of CUL7, detected the aberrant splicing event of CUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M.PMID:37877343 | DOI:10.1002/mgg3.2284 (Source: Molecular Medicine)
Source: Molecular Medicine - October 25, 2023 Category: Molecular Biology Authors: Xueqian Wang Yaqiong He Xiaorong Wang Xiangtian Kong Yunying Lin Yejie Yao Yi Huang Source Type: research
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
ConclusionThis study expanded the mutation spectrum ofCUL7, detected the aberrant splicing event ofCUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 25, 2023 Category: Genetics & Stem Cells Authors: Xueqian Wang,
Yaqiong He,
Xiaorong Wang,
Xiangtian Kong,
Yunying Lin,
Yejie Yao,
Yi Huang Tags: ORIGINAL ARTICLE Source Type: research
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
ConclusionThe comparison between the CMA and NIPT-PLUS techniques shows that NIPT-PLUS has high sensitivity for detecting chromosomal aneuploidy and chromosomal copy number variations (CNVs) with fragments> 5 M. However, the sensitivity of CNV for fragments< 5 M is low, and the missed detection rate is high. Additionally, confined placental mosaicism and foetal mosaicism are the key factors causing false negatives in NIPT-PLUS, while maternal chromosomal abnormalities and confined placental mosaicism are key contributors to false positives, so appro priate genetic counselling is especially important for pregn...
Source: European Journal of Medical Research - August 30, 2023 Category: Research Source Type: research
When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes
Conclusion: In the group of NT 95th percentile-3.0 mm, since chromosomal aneuploidy and chromosomal copy number variation were the primary causes and the additional contribution of CMA and WES was not significant, we recommend NIPT-Plus for pregnant women with a NT thickening of 95th percentile-3.0 mm first. In addition, comprehensive prenatal genetic testing involving CMA and WES can benefit pregnancies with NT thickening of 3.0–3.49 mm. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - August 2, 2023 Category: Genetics & Stem Cells Source Type: research
A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018
ConclusionsChromosomal microarray identified 5.3% trisomies and 3.4% copy number variants, thereby increased the diagnostic yield by more than 64% compared with karyotype only and it also more than halved the turnaround time. Some preliminary concerns proved real, eg prenatal counseling complexity, but these have been resolved over time in a clinical path with expert consultations. (Source: Acta Obstetricia et Gynecologica Scandinavica)
Source: Acta Obstetricia et Gynecologica Scandinavica - July 23, 2023 Category: OBGYN Authors: Dorte Launholt Lildballe,
Naja Becher,
Else Marie Vestergaard,
Rikke Christensen,
Stina Lou,
Puk Sandager,
Lars Henning Pedersen,
Kasper Gadsb øll,
Olav Bjørn Petersen,
Ida Vogel Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities
CONCLUSIONS: The extensive experience at our center shows that carrier screening, molecular diagnostics, genetic counseling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome. The ultrasonographic abnormalities in fetuses with Hb Bart's hydrops are mainly caused by an increase in cardiac output, which leads to the body cavity effusion from various organs.PMID:37477864 | DOI:10.1007/s12185-023-03643-6 (Source: International Journal of Hematology)
Source: International Journal of Hematology - July 21, 2023 Category: Hematology Authors: Haijun Li Jinhua Wang Degang Wang Yujie Gan Yi Xiong Source Type: research
Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities
CONCLUSIONS: The extensive experience at our center shows that carrier screening, molecular diagnostics, genetic counseling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome. The ultrasonographic abnormalities in fetuses with Hb Bart's hydrops are mainly caused by an increase in cardiac output, which leads to the body cavity effusion from various organs.PMID:37477864 | DOI:10.1007/s12185-023-03643-6 (Source: International Journal of Hematology)
Source: International Journal of Hematology - July 21, 2023 Category: Hematology Authors: Haijun Li Jinhua Wang Degang Wang Yujie Gan Yi Xiong Source Type: research
Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom
Eur J Obstet Gynecol Reprod Biol X. 2023 Jul 1;19:100211. doi: 10.1016/j.eurox.2023.100211. eCollection 2023 Sep.ABSTRACTThe non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, pr...
Source: Reproductive Biology - July 17, 2023 Category: Reproduction Medicine Authors: Collins Ejakhianghe Maximilian Okoror Suruchi Arora Source Type: research
Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom
Eur J Obstet Gynecol Reprod Biol X. 2023 Jul 1;19:100211. doi: 10.1016/j.eurox.2023.100211. eCollection 2023 Sep.ABSTRACTThe non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, pr...
Source: Reproductive Biology - July 17, 2023 Category: Reproduction Medicine Authors: Collins Ejakhianghe Maximilian Okoror Suruchi Arora Source Type: research
Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom
Eur J Obstet Gynecol Reprod Biol X. 2023 Jul 1;19:100211. doi: 10.1016/j.eurox.2023.100211. eCollection 2023 Sep.ABSTRACTThe non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, pr...
Source: Reproductive Biology - July 17, 2023 Category: Reproduction Medicine Authors: Collins Ejakhianghe Maximilian Okoror Suruchi Arora Source Type: research
Evaluation of Fetal and Maternal Outcomes in Chorion Villus Sampling (CVS)
CONCLUSION: It should be noted that due to a long time between placental sampling and the occurrence of vaginal bleeding, premature rupture of membrane, and preterm delivery, it seems that placental sampling has no effect. In addition, only a decrease in free BHCG or an increase in NT significantly increased the chance of miscarriage.PMID:37434920 | PMC:PMC10331521 | DOI:10.4103/abr.abr_229_22 (Source: Biomed Res)
Source: Biomed Res - July 12, 2023 Category: Research Authors: Minoo Movahedi Farinaz Farahbod Elahe Zarean Maryam Hajihashemi Fedyeh Haghollahi Mehri Farahmand Source Type: research
Evaluation of Fetal and Maternal Outcomes in Chorion Villus Sampling (CVS)
CONCLUSION: It should be noted that due to a long time between placental sampling and the occurrence of vaginal bleeding, premature rupture of membrane, and preterm delivery, it seems that placental sampling has no effect. In addition, only a decrease in free BHCG or an increase in NT significantly increased the chance of miscarriage.PMID:37434920 | PMC:PMC10331521 | DOI:10.4103/abr.abr_229_22 (Source: Biomed Res)
Source: Biomed Res - July 12, 2023 Category: Research Authors: Minoo Movahedi Farinaz Farahbod Elahe Zarean Maryam Hajihashemi Fedyeh Haghollahi Mehri Farahmand Source Type: research
Evaluation of Fetal and Maternal Outcomes in Chorion Villus Sampling (CVS)
CONCLUSION: It should be noted that due to a long time between placental sampling and the occurrence of vaginal bleeding, premature rupture of membrane, and preterm delivery, it seems that placental sampling has no effect. In addition, only a decrease in free BHCG or an increase in NT significantly increased the chance of miscarriage.PMID:37434920 | PMC:PMC10331521 | DOI:10.4103/abr.abr_229_22 (Source: Biomed Res)
Source: Biomed Res - July 12, 2023 Category: Research Authors: Minoo Movahedi Farinaz Farahbod Elahe Zarean Maryam Hajihashemi Fedyeh Haghollahi Mehri Farahmand Source Type: research
