Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China
Braz J Med Biol Res. 2023 Jun 26;56:e12506. doi: 10.1590/1414-431X2023e12506. eCollection 2023.ABSTRACTAlthough non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patie...
Source: Braz J Med Biol Res - June 28, 2023 Category: Research Authors: Meiying Cai Na Lin Xuemei Chen Ying Li Min Lin Xianguo Fu Hailong Huang Shuqiong He Liangpu Xu Source Type: research
Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China
Braz J Med Biol Res. 2023 Jun 26;56:e12506. doi: 10.1590/1414-431X2023e12506. eCollection 2023.ABSTRACTAlthough non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patie...
Source: Brazilian Journal of Medical and Biological Research - June 28, 2023 Category: Research Authors: Meiying Cai Na Lin Xuemei Chen Ying Li Min Lin Xianguo Fu Hailong Huang Shuqiong He Liangpu Xu Source Type: research
Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China
Braz J Med Biol Res. 2023 Jun 26;56:e12506. doi: 10.1590/1414-431X2023e12506. eCollection 2023.ABSTRACTAlthough non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patie...
Source: Braz J Med Biol Res - June 28, 2023 Category: Research Authors: Meiying Cai Na Lin Xuemei Chen Ying Li Min Lin Xianguo Fu Hailong Huang Shuqiong He Liangpu Xu Source Type: research
Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China
Braz J Med Biol Res. 2023 Jun 26;56:e12506. doi: 10.1590/1414-431X2023e12506. eCollection 2023.ABSTRACTAlthough non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patie...
Source: Brazilian Journal of Medical and Biological Research - June 28, 2023 Category: Research Authors: Meiying Cai Na Lin Xuemei Chen Ying Li Min Lin Xianguo Fu Hailong Huang Shuqiong He Liangpu Xu Source Type: research
Impact of COVID-19 and vaccination on first and second trimester screening results
Cytokine. 2023 May 22;168:156228. doi: 10.1016/j.cyto.2023.156228. Online ahead of print.ABSTRACTCOVID-19 has been shown to affect pregnant women. Since pregnant women are at risk of this infection, vaccination against COVID-19 has been suggested as an imperative way to diminish rate of COVID-19 in this population. In the current observational study, we have collected data of first and second trimester screening (FTS and STS) from pregnant women who were infected with SARS-CoV-2 and/or vaccinated against COVID-19 during their pregnancy, and compared this data with a group of control pregnant women. The cohort included 4612...
Source: Cytokine - May 24, 2023 Category: Molecular Biology Authors: Sedigheh Hantoushzadeh Sarang Younesi Mohammad Mahdi Taheri Amin Pourandokht Saadati Soudabeh Jamali Saina Nassiri Mohammad-Hossein Modarresi Shahram Savad Saeed Delshad Zahra Soleiman Meiguni Saloomeh Amidi Fariba Navidpour Bahareh Yazdani Ali Karimi Far Source Type: research
Impact of COVID-19 and vaccination on first and second trimester screening results
Cytokine. 2023 May 22;168:156228. doi: 10.1016/j.cyto.2023.156228. Online ahead of print.ABSTRACTCOVID-19 has been shown to affect pregnant women. Since pregnant women are at risk of this infection, vaccination against COVID-19 has been suggested as an imperative way to diminish rate of COVID-19 in this population. In the current observational study, we have collected data of first and second trimester screening (FTS and STS) from pregnant women who were infected with SARS-CoV-2 and/or vaccinated against COVID-19 during their pregnancy, and compared this data with a group of control pregnant women. The cohort included 4612...
Source: Cytokine - May 24, 2023 Category: Molecular Biology Authors: Sedigheh Hantoushzadeh Sarang Younesi Mohammad Mahdi Taheri Amin Pourandokht Saadati Soudabeh Jamali Saina Nassiri Mohammad-Hossein Modarresi Shahram Savad Saeed Delshad Zahra Soleiman Meiguni Saloomeh Amidi Fariba Navidpour Bahareh Yazdani Ali Karimi Far Source Type: research
Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea
Trisomy 18 syndrome (T18) is the second most common autosomal trisomy and has a high risk of fetal loss and stillbirth. Aggressive surgical treatments for the respiratory, cardiac, or digestive systems of pati... (Source: BMC Pediatrics)
Source: BMC Pediatrics - May 20, 2023 Category: Pediatrics Authors: In Gyu Song, Seung Han Shin, Yoon-Min Cho and Youna Lim Tags: Research Source Type: research
Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
Conclusions
This multi-registry European study found that despite extremely high neonatal mortality in children with T13 and T18, 32% and 21%, respectively, of those who survived to 4 weeks were likely to survive to age 10 years. These reliable survival estimates are useful to inform counselling of parents after prenatal diagnosis. (Source: Archives of Disease in Childhood)
Source: Archives of Disease in Childhood - May 18, 2023 Category: Pediatrics Authors: Glinianaia, S. V., Rankin, J., Tan, J., Loane, M., Garne, E., Cavero-Carbonell, C., de Walle, H. E. K., Gatt, M., Gissler, M., Klungsoyr, K., Lelong, N., Neville, A., Pierini, A., Tucker, D. F., Urhoj, S. K., Wellesley, D. G., Morris, J. K. Tags: Original research Source Type: research
Genes, Vol. 14, Pages 982: Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies
In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies. (Source: Genes)
Source: Genes - April 26, 2023 Category: Genetics & Stem Cells Authors: Luigia De Falco Giovanni Savarese Pasquale Savarese Nadia Petrillo Monica Ianniello Raffaella Ruggiero Teresa Suero Cosimo Barbato Alessio Mori Cristina Ramiro Luigi Della Corte Gabriele Saccone Attilio Di Spiezio Sardo Antonio Fico Tags: Article Source Type: research
Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand
This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT) between January 2016 and December 2020. Thi rty percent (7,860/25,736) of pregnancies received prenatal screening tests for aneuploidies disorders, and 17.8% underwent prenatal diagnosis tests without screening. The highest percentage of screening tests was first-trimester test (64.5%). The high-risk results were 4% for first-trimester test, 6.6% for quadruple test, and 1....
Source: PLoS One - April 20, 2023 Category: Biomedical Science Authors: Preechaya Wongkrajang Source Type: research
Gender bias in fetal malformations: A cross-sectional study in Asian populations
ConclusionSex differences are common with fetal malformations, with higher proportions of males. Genetic testing has been proposed to account for these differences. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - March 30, 2023 Category: Endocrinology Source Type: research
Ethical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18
CONCLUSION: A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery.PMID:36945782 | DOI:10.1177/10556656231163722 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - March 22, 2023 Category: ENT & OMF Authors: Richard Appel Andrew E Grush Raghave M Upadhyaya David G Mann Edward P Buchanan Source Type: research
Ethical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18
CONCLUSION: A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery.PMID:36945782 | DOI:10.1177/10556656231163722 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - March 22, 2023 Category: ENT & OMF Authors: Richard Appel Andrew E Grush Raghave M Upadhyaya David G Mann Edward P Buchanan Source Type: research
Clinical application of noninvasive prenatal testing in twin pregnancies: a single-centre experience
CONCLUSIONS: NIPT is a high-performing routine primary prenatal screening test in twin pregnancies, with high sensitivity and specificity in screening for fetal aneuploidy.PMID:36939534 | DOI:10.1080/14737159.2023.2193291 (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - March 20, 2023 Category: Laboratory Medicine Authors: Yanmei Luo Bin Hu Yang Long Yan Pan Lupin Jiang Wei Xiong Huanhuan Xu Liang Xu Dan Wang Source Type: research
