Results 11 to 20 of about 4,684 (217)

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports [PDF]

Frontiers in Medicine, 2022
We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy
Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Dong Hyun Cha, Sung Han Shim, Sung Han Shim   +13 more
doaj   +2 more sources

Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review [PDF]

BMC Pregnancy and Childbirth, 2019
Abstract Background Genomics-based noninvasive prenatal tests (NIPT) allow screening for chromosomal anomalies such as Down syndrome (trisomy 21). The technique uses cell-free fetal DNA (cffDNA) that circulates in the maternal blood and is detectable from 5 weeks of gestation onwards. Parents who choose to
Valérie Labonté, Dima Alsaid, Britta Lang, Joerg J. Meerpohl   +3 more
openaire   +5 more sources

Mainstreaming genetics into Italian prenatal care: exploring the future implementation of non-invasive prenatal testing (NIPT) in the Italian National Healthcare System using stakeholder interviews [PDF]

BMJ Public Health
Introduction Non-invasive prenatal testing (NIPT) has revolutionised the way prenatal testing is performed globally. Italy is one of the European countries considering incorporating NIPT nationwide into the publicly funded healthcare system.
Giulia Sesa, Katarzyna Czabanowska, Kristiaan Kok, Terry Vrijenhoek   +3 more
doaj   +2 more sources

Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care [PDF]

International Journal of Preventive Medicine
Prenatal screening has undergone a profound transformation with the emergence of Non-Invasive Prenatal Testing (NIPT), a technology that analyzes cell-free fetal DNA (cffDNA) in maternal blood to detect common chromosomal abnormalities.
Ram K. Garg, Yogesh Kumar, Ram Niwas, Jitendra Singh   +3 more
doaj   +2 more sources

Sex Ratios at Birth Following Non-Invasive Prenatal Testing in Victoria, Australia. [PDF]

Prenat Diagn
ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Bowman-Smart H, Gyngell C, Hui L, Mand C, Pertile MD, Savulescu J, Delatycki MB.   +6 more
europepmc   +2 more sources

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results [PDF]

Scientific Reports, 2016
AbstractTo properly interpret the result of a pregnant woman’s non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy.
Sikkema-Raddatz, Birgit, Johansson, Lennart F., De Boer, Eddy N., Boon, Elles M.J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, Van Langen, Irene M., Sinke, Richard J., Te Meerman, Gerard J.   +11 more
openaire   +5 more sources

Case Report: A family with X-linked ichthyosis identified by secondary findings of non-invasive prenatal testing [PDF]

Frontiers in Medicine
We report a family with X-linked ichthyosis (XLI), in which the non-invasive prenatal testing (NIPT) results from the pregnant woman revealed a deletion of approximately 2 Mb at Xp22.31, confirmed by chromosome microarray analysis. This deletion includes
Shuzhen Li, Fuxin Chen, Fuxin Chen, Lihua Li, Lihua Li, Miaolian Zhang, Miaolian Zhang, Huahua Li, Huahua Li, Suihua Feng, Suihua Feng, Xiaohong Ruan, Xiaohong Ruan, Qiang Zhao, Qiang Zhao   +14 more
doaj   +2 more sources

Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool

Journal of Obstetrics and Gynaecology, 2023
The increasing popularity and expansion of non-invasive prenatal testing (NIPT) to screen for rare conditions beyond common trisomies prompts evaluation of pre-test counselling currently offered.
Ho Yin Diana Lee, Lin Wai Chan
doaj   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

Frontiers in Genetics, 2023
To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women ...
Yongyi Zou, Yongyi Zou, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Xinrong Wang, Tingting Huang, Tingting Huang, Yan Yang, Yan Yang, Kang Xie, Kang Xie, Huizhen Yuan, Huizhen Yuan, Shuhui Huang, Shuhui Huang, Bicheng Yang, Bicheng Yang, Wan Lu, Wan Lu, Yanqiu Liu, Yanqiu Liu   +22 more
doaj   +1 more source

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies [PDF]

Folia Medica
Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies.
Slavyana Galeva, Boris Stoilov, Ekaterina Uchikova   +2 more
doaj   +3 more sources