Results 61 to 70 of about 195,583 (261)

Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins

Prenatal Diagnosis, 2023
The screening performance of non‐invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance
Jacintha C A van Eekhout, M. Bekker, C. Bax, R. Galjaard   +3 more
semanticscholar   +1 more source

Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review [PDF]

, 2020
Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to ...
Arends, Lidia R., Bilardo, Caterina M., Diderich, Karin E.M., Knapen, Maarten F.C.M., Petersen, Olav B., Polak, Marike, Smith, Eric, Srebniak, Malgorzata I., Van Opstal, Diane, Vogel, Ida   +9 more
core   +5 more sources

Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects

Prenatal Diagnosis, Volume 42, Issue 13, Page 1612-1621, December 2022., 2022
Abstract Objective Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the Cervix), has been described, which collects ...
Marie van Dijk, Souad Boussata, Dianta Janssen, Gijs Afink, Jiska Jebbink, Merel van Maarle, Esther Wortelboer, Angelique Kooper, Eva Pajkrt   +8 more
wiley   +1 more source

Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice

Prenatal Diagnosis, Volume 42, Issue 13, Page 1587-1593, December 2022., 2022
Abstract Objective Twins account for approximately 1 in 30 live births in the United States. However, there are limited clinical experience studies published in noninvasive prenatal testing (NIPT) for detecting aneuploidies in twins. This study reports the performance of an SNP‐based NIPT in the largest cohort with known outcomes for high‐risk ...
Valerie Kantor, Lihong Mo, Wendy DiNonno, Katherine Howard, Charuta C. Palsuledesai, Sheetal Parmar, Zahabiya Chithiwala, Russ Jelsema, Wenbo Xu, Herman L. Hedriana   +9 more
wiley   +1 more source

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Molecular Cytogenetics, 2021
Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.
Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch, Beata Anna Nowakowska   +12 more
doaj   +1 more source

Knowledge and Attitude Regarding Non-Invasive Prenatal Testing (NIPT) among Women: A Cross-Sectional Study in Saudi Arabia

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: The most prevalent type of inherited intellectual disability worldwide is Down syndrome. Prenatal testing can determine the possibility of a pregnant woman giving birth to an infant with Down’s.
Nedaa Mohammed Bahkali, Ghaida Abdullah Eissa, Abdulaziz Mohammed Bashar Shaheen, Abdullah Mohammed Sanedi, Duaa Mohammed Bahkali   +4 more
doaj   +1 more source

Clinician views and experiences of non‐invasive prenatal genetic screening tests in Australia

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 62, Issue 6, Page 830-837, December 2022., 2022
Background Non‐invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice.
Shannon McKinn, Nasrin Javid, Ainsley J. Newson, Lucinda Freeman, Carissa Bonner, Antonia W. Shand, Natasha Nassar, Katy J.L. Bell   +7 more
wiley   +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

Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study. [PDF]

PLoS ONE, 2016
Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to
Celine Lewis, Melissa Hill, Lyn S Chitty
doaj   +1 more source

The Current State of Prenatal Detection of Genetic Conditions in Congenital Heart Defects [PDF]

, 2021
The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique.
Findley, Tina O, Northrup, Hope
core   +2 more sources