Results 1 to 10 of about 189,771 (305)

Prenatal Screening and Genetics [PDF]

The European Journal of Public Health, 2001
Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'.
Alderson, Priscilla, Aro, A, Dragonas, T, Ettorre, E, Hemminki, E, Jalinoja, P, Santalahti, P, Tymstra, T   +7 more
core   +14 more sources

CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis [PDF]

Medicina
Aneuploidy is increasingly recognized globally as a common cause of miscarriage among expectant mothers. The existing prenatal screening techniques for detecting aneuploidy have several limitations.
Irisappan Ganesh, Ilangovan Karthiga, Manoranjani Murugan, Kumar Rangarajalu, Vishnu Bhat Ballambattu, Sambandam Ravikumar   +5 more
doaj   +2 more sources

Prenatal Screening Vouchers [PDF]

Journal of the Royal Society of Medicine, 1996
Prenatal screening for congenital disease is controversial. Although it increases choice and may reduce the prevalence of handicap, people are ambivalent about abortion, and the benefits may not always outweigh the side effectsl. Although it may provide reassurance and let people prepare for bad news, screening also causes miscarriage and anxiety, and ...
R J, Lilford, J G, Thornton
  +9 more sources

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BMC Pregnancy and Childbirth, 2023
Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis ...
Sha Lu, Nisile Kakongoma, Wen-sheng Hu, Yan-zhen Zhang, Nan-nan Yang, Wen Zhang, Ai-fen Mao, Yi Liang, Zhi-fen Zhang   +8 more
doaj   +1 more source

Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. Materials and methods: Traditional screening tests were performed using a combination of biochemical markers and ultrasound ...
M. Rosario Torres Aguilar, Pilar Carrasco Salas, Cristina Santos Rosa, Guadalupe Bueno Rodríguez, Eduardo Martínez-Bonet, Práxedes Carreto Alba, Antonio León-Justel, M. Reyes Granell Escobar   +7 more
doaj   +1 more source

Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18

Scientific Reports, 2022
To evaluate the clinical predictive value of serum alpha-fetoprotein variants (AFP-L2, AFP-L3) in combination with maternal serum prenatal screening biomarkers in predicting fetal trisomy 21 and trisomy 18. We analyze the data of singleton pregnant women
Yiming Chen, Yijie Chen, Wenwen Ning, Wen Zhang, Liyao Li, Xiaoying Wang, Yixuan Yin, Huimin Zhang   +7 more
doaj   +1 more source

Universal prenatal screening: a initiative from Guanajuato, Mexico to improve equity in perinatal healthcare

Frontiers in Medicine, 2023
The prenatal approach from a preventive perspective is necessary to reduce perinatal complications. A perinatal care model with a holistic and horizontal approach is required.
Ma de la Luz Bermudez Rojas, Virginia Medina Jimenez, Javier Ivan Manzanares Cuadros, Daniel Alberto Diaz Martínez, Nicolas Padilla Raygoza, Elia Lara Lona   +5 more
doaj   +1 more source

New cut-off values for screening of trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester in pregnant women with advanced maternal age

BMC Pregnancy and Childbirth, 2020
Background To determine whether advanced maternal age (AMA) causes changes in the maternal serum markers of Trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester of pregnancy.
Yiming Chen, Xue Wang, Liyao Li, Sha Lu, Zhifen Zhang   +4 more
doaj   +1 more source

Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

Gynecology Obstetrics & Reproductive Medicine, 2022
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar, Madhusudan Dey, Devendra Arora   +2 more
doaj   +1 more source

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +1 more source