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
Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - June 5, 2023 Category: Genetics & Stem Cells Source Type: research
Late first-trimester ultrasound findings can alter management after high-risk NIPT result
CONCLUSIONS: LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management. The high PPV for trisomy 21 and 18 NIPT results are not sufficiently modified by normal LFTU findings to alter management and these patients should be offered a CVS for earlier diagnosis, particularly as there is a low rate of placental mosaicism with these aneuploidies. Patients with a high-risk NIPT result for trisomy 13 and normal LFTU findings often await amniocentesis or avoid invasive testing altogether given the low PPV and higher rat...
Source: The Ultrasound Review of Obstetrics and Gynecology - May 29, 2023 Category: Radiology Authors: F Scott M-E Smet J Elhindi R Mogra L Sunderland A Ferreira M Menezes S Meagher A McLennan Source Type: research
Late first-trimester ultrasound findings can alter management after high-risk NIPT result
CONCLUSIONS: LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management. The high PPV for trisomy 21 and 18 NIPT results are not sufficiently modified by normal LFTU findings to alter management and these patients should be offered a CVS for earlier diagnosis, particularly as there is a low rate of placental mosaicism with these aneuploidies. Patients with a high-risk NIPT result for trisomy 13 and normal LFTU findings often await amniocentesis or avoid invasive testing altogether given the low PPV and higher rat...
Source: The Ultrasound Review of Obstetrics and Gynecology - May 29, 2023 Category: Radiology Authors: F Scott M-E Smet J Elhindi R Mogra L Sunderland A Ferreira M Menezes S Meagher A McLennan Source Type: research
Late first-trimester ultrasound findings can alter management after high-risk NIPT result
CONCLUSIONS: LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management. The high PPV for trisomy 21 and 18 NIPT results are not sufficiently modified by normal LFTU findings to alter management and these patients should be offered a CVS for earlier diagnosis, particularly as there is a low rate of placental mosaicism with these aneuploidies. Patients with a high-risk NIPT result for trisomy 13 and normal LFTU findings often await amniocentesis or avoid invasive testing altogether given the low PPV and higher rat...
Source: The Ultrasound Review of Obstetrics and Gynecology - May 29, 2023 Category: Radiology Authors: F Scott M-E Smet J Elhindi R Mogra L Sunderland A Ferreira M Menezes S Meagher A McLennan Source Type: research
Prenatal genomic testing for ultrasound ‐detected fetal structural anomalies
Key content
In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.
There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.Lear...
Source: The Obstetrician and Gynaecologist - April 17, 2023 Category: OBGYN Authors: Kelly Reilly,
Caoimhe McKenna,
Simon McCullough,
Shane McKee,
Fionnuala Mone Tags: Review Source Type: research
Genes, Vol. 14, Pages 913: Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligoh...
Source: Genes - April 14, 2023 Category: Genetics & Stem Cells Authors: Olga E. Talantova Alla S. Koltsova Andrei V. Tikhonov Anna A. Pendina Olga V. Malysheva Olga A. Tarasenko Elena S. Vashukova Elena S. Shabanova Arina V. Golubeva Olga G. Chiryaeva Andrey S. Glotov Olesya N. Bespalova Olga A. Efimova Tags: Case Report Source Type: research
Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study
CONCLUSIONS: Our findings suggest the inclusion of SCAs in prenatal cfDNA screening tests can increase the prenatal identification of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. This article is protected by copyright. All rights reserved.PMID:36929222 | DOI:10.1002/uog.26201 (Source: The Ultrasoun...
Source: The Ultrasound Review of Obstetrics and Gynecology - March 17, 2023 Category: Radiology Authors: C A Samango-Sprouse F R Grati M Brooks M P Hamzik K Khaksari A Gropman A Taylor F Malvestiti B Grimi R Liuti S Milani S Chinetti A Trotta C Agrati E Repetti K A Martin Source Type: research
Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study
CONCLUSIONS: Our findings suggest the inclusion of SCAs in prenatal cfDNA screening tests can increase the prenatal identification of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. This article is protected by copyright. All rights reserved.PMID:36929222 | DOI:10.1002/uog.26201 (Source: The Ultrasoun...
Source: The Ultrasound Review of Obstetrics and Gynecology - March 17, 2023 Category: Radiology Authors: C A Samango-Sprouse F R Grati M Brooks M P Hamzik K Khaksari A Gropman A Taylor F Malvestiti B Grimi R Liuti S Milani S Chinetti A Trotta C Agrati E Repetti K A Martin Source Type: research
Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study
CONCLUSIONS: Our findings suggest the inclusion of SCAs in prenatal cfDNA screening tests can increase the prenatal identification of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. This article is protected by copyright. All rights reserved.PMID:36929222 | DOI:10.1002/uog.26201 (Source: The Ultrasoun...
Source: The Ultrasound Review of Obstetrics and Gynecology - March 17, 2023 Category: Radiology Authors: C A Samango-Sprouse F R Grati M Brooks M P Hamzik K Khaksari A Gropman A Taylor F Malvestiti B Grimi R Liuti S Milani S Chinetti A Trotta C Agrati E Repetti K A Martin Source Type: research
Prenatal genomic testing for ultrasound detected fetal structural anomalies
ABSTRACTKey content
In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to uncover a unifying genetic diagnosis.
There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.Learning o...
Source: The Obstetrician and Gynaecologist - March 12, 2023 Category: OBGYN Authors: Kelly Reilly,
Caoimhe McKenna,
Simon McCullough,
Shane McKee,
Fionnuala Mone Tags: Review Source Type: research
DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine
Ultraschall Med. 2023 Mar 7. doi: 10.1055/a-2014-4505. Online ahead of print.ABSTRACTDiagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from...
Source: Ultraschall in der Medizin - March 7, 2023 Category: Radiology Authors: Christiane K ähler Renaldo Faber Annegret Geipel Kai-Sven Heling Karl-Oliver Kagan Peter Kozlowski Thomas Schramm Source Type: research
DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine
Ultraschall Med. 2023 Mar 7. doi: 10.1055/a-2014-4505. Online ahead of print.ABSTRACTDiagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from...
Source: Ultraschall in der Medizin - March 7, 2023 Category: Radiology Authors: Christiane K ähler Renaldo Faber Annegret Geipel Kai-Sven Heling Karl-Oliver Kagan Peter Kozlowski Thomas Schramm Source Type: research
