Noninvasive prenatal screening with conventional sequencing depth to screen fetal copy number variants: A retrospective study of 19 144 pregnant women
CONCLUSIONS: NIPS yielded high PPVs for trisomy 21, 18, and 13 aneuploidies and moderate PPVs for SCAs and CNVs. The screening effectiveness was closely related to the size of CNV fragments. Larger CNVs, especially larger than 5 Mb, could be detected more accurately by NIPS in our analytic technique. Meanwhile, diagnostic confirmation by microarray analysis was highly recommended.PMID:37806662 | DOI:10.1111/jog.15805 (Source: Cell Research)
Source: Cell Research - October 8, 2023 Category: Cytology Authors: Zhiwei Wang Xinxin Tang Shuting Yang Yali Zhao Ting Yin Min Chen Yue Zhang Yongan Wang Fang Zhang Leilei Wang Source Type: research
ALLELE SPECIFIC CHROMOSOME REMOVAL BY CRISPR/Cas9 TO CORRECT TRISOMY 18
The objective of this experiment is to determine if CRISPR/Cas9 can be used to target and eliminate an allele specific chromosome in trisomy 18 embryos. (Source: Fertility and Sterility)
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Evan A. Reshef, Diego Marin, Jia Xu, Nathan R. Treff, Dieter Egli Source Type: research
Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes
ConclusionsNIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 9, 2023 Category: Molecular Biology Source Type: research
Performance of noninvasive prenatal testing for twin pregnancies in South China
ConclusionThe NIPT/NIPT-plus has excellent performance in the detection of chromosome aneuploidies in twin pregnancies. But for CNVs, the effectiveness of NIPT is poor, and the NIPT-plus have a certain detection efficiency. It is worth noting that pre- and post-genetic counseling is especially important, and the chorionicity, mode of conception, clinical indications, and fetal fraction should be considered as influencing factors. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - August 29, 2023 Category: Reproduction Medicine Source Type: research
Consequences of gaining an extra chromosome
Chromosome Res. 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w.ABSTRACTMistakes in chromosome segregation leading to aneuploidy are the primary cause of miscarriages in humans. Excluding sex chromosomes, viable aneuploidies in humans include trisomies of chromosomes 21, 18, or 13, which cause Down, Edwards, or Patau syndromes, respectively. While individuals with trisomy 18 or 13 die soon after birth, people with Down syndrome live to adulthood but have intellectual disabilities and are prone to multiple diseases. At the cellular level, mistakes in the segregation of a single chromosome leading to a cell losing a ch...
Source: Cell Research - August 24, 2023 Category: Cytology Authors: Eduardo M Torres Source Type: research
Consequences of gaining an extra chromosome
Chromosome Res. 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w.ABSTRACTMistakes in chromosome segregation leading to aneuploidy are the primary cause of miscarriages in humans. Excluding sex chromosomes, viable aneuploidies in humans include trisomies of chromosomes 21, 18, or 13, which cause Down, Edwards, or Patau syndromes, respectively. While individuals with trisomy 18 or 13 die soon after birth, people with Down syndrome live to adulthood but have intellectual disabilities and are prone to multiple diseases. At the cellular level, mistakes in the segregation of a single chromosome leading to a cell losing a ch...
Source: Chromosome Research - August 24, 2023 Category: Genetics & Stem Cells Authors: Eduardo M Torres Source Type: research
Consequences of gaining an extra chromosome
Chromosome Res. 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w.ABSTRACTMistakes in chromosome segregation leading to aneuploidy are the primary cause of miscarriages in humans. Excluding sex chromosomes, viable aneuploidies in humans include trisomies of chromosomes 21, 18, or 13, which cause Down, Edwards, or Patau syndromes, respectively. While individuals with trisomy 18 or 13 die soon after birth, people with Down syndrome live to adulthood but have intellectual disabilities and are prone to multiple diseases. At the cellular level, mistakes in the segregation of a single chromosome leading to a cell losing a ch...
Source: Chromosome Research - August 24, 2023 Category: Genetics & Stem Cells Authors: Eduardo M Torres Source Type: research
Consequences of gaining an extra chromosome
Chromosome Res. 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w.ABSTRACTMistakes in chromosome segregation leading to aneuploidy are the primary cause of miscarriages in humans. Excluding sex chromosomes, viable aneuploidies in humans include trisomies of chromosomes 21, 18, or 13, which cause Down, Edwards, or Patau syndromes, respectively. While individuals with trisomy 18 or 13 die soon after birth, people with Down syndrome live to adulthood but have intellectual disabilities and are prone to multiple diseases. At the cellular level, mistakes in the segregation of a single chromosome leading to a cell losing a ch...
Source: Chromosome Research - August 24, 2023 Category: Genetics & Stem Cells Authors: Eduardo M Torres Source Type: research
Consequences of gaining an extra chromosome
Chromosome Res. 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w.ABSTRACTMistakes in chromosome segregation leading to aneuploidy are the primary cause of miscarriages in humans. Excluding sex chromosomes, viable aneuploidies in humans include trisomies of chromosomes 21, 18, or 13, which cause Down, Edwards, or Patau syndromes, respectively. While individuals with trisomy 18 or 13 die soon after birth, people with Down syndrome live to adulthood but have intellectual disabilities and are prone to multiple diseases. At the cellular level, mistakes in the segregation of a single chromosome leading to a cell losing a ch...
Source: Chromosome Research - August 24, 2023 Category: Genetics & Stem Cells Authors: Eduardo M Torres Source Type: research
Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18
Conclusion Through multidisciplinary collaboration, we successfully created a patient-centered approach for counseling families facing a diagnosis of T13/T18. Other institutions may use our approach as a model for developing their own standardized approach.
Key Points
[...] Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: American Journal of Perinatology)
Source: American Journal of Perinatology - August 24, 2023 Category: Perinatology & Neonatology Authors: Kim, Amanda J.H. Marshall, Mayme Gievers, Ladawna Tate, Tyler Taub, Sara Dukhovny, Stephanie Ronai, Christina Madriago, Erin J. Tags: Clinical Opinion Source Type: research
Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses
ConclusionsNasal bone hypoplasia is a highly specific soft marker that is associated with multiple chromosomal abnormalities. The risk of chromosomal abnormalities increases when combined with structural abnormalities or increased nuchal translucency (NT). Chromosomal microarray analysis is a powerful prenatal test for chromosomal abnormalities, which may be warranted in fetuses with nasal bone hypoplasia. (Source: Archives of Gynecology and Obstetrics)
Source: Archives of Gynecology and Obstetrics - August 23, 2023 Category: OBGYN Source Type: research
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age
CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.PMID:37606120 | DOI:10.26355/eurrev_202308_33283 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - August 22, 2023 Category: Drugs & Pharmacology Authors: J-Y Su Y-N Wei H-F Chen J-R Tong Y Chen L Deng L-L Huang L-Y Zhang Source Type: research
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age
CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.PMID:37606120 | DOI:10.26355/eurrev_202308_33283 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - August 22, 2023 Category: Drugs & Pharmacology Authors: J-Y Su Y-N Wei H-F Chen J-R Tong Y Chen L Deng L-L Huang L-Y Zhang Source Type: research
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age
CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.PMID:37606120 | DOI:10.26355/eurrev_202308_33283 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - August 22, 2023 Category: Drugs & Pharmacology Authors: J-Y Su Y-N Wei H-F Chen J-R Tong Y Chen L Deng L-L Huang L-Y Zhang Source Type: research
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age
CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.PMID:37606120 | DOI:10.26355/eurrev_202308_33283 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - August 22, 2023 Category: Drugs & Pharmacology Authors: J-Y Su Y-N Wei H-F Chen J-R Tong Y Chen L Deng L-L Huang L-Y Zhang Source Type: research
