Results 31 to 40 of about 1,997,745 (357)

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

Non-invasive prenatal test to screen common trisomies in twin pregnancies

Molecular Cytogenetics, 2020
Objectives Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of ...
Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh, Soudeh Ghafouri-Fard   +10 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

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

Scientific Reports, 2023
Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders with different incidence rates in different ethnic groups. In the current study, we have determined SMN1, SMN2 and NAIP copy numbers in an Iranian population using MLPA ...
Shahram Savad, Mahmoud Reza Ashrafi, Niusha Samadaian, Morteza Heidari, Mohammad-Hossein Modarressi, Gholamreza Zamani, Saloomeh Amidi, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Alireza Ronagh, Hossein Shojaaldini Ardakani, Solat Eslami, Soudeh Ghafouri-Fard   +13 more
doaj   +1 more source

Prenatal screening [PDF]

ISBT Science Series, 2013
In most countries, pregnant women are early in pregnancy typed for ABO and RhD and screened for the presence of red cell antibodies. Maternal red cell alloantibodies of IgG class are actively transported by the placenta to the fetus and destruct the fetal red cells, if these carry the involved antigen leading to haemolytic disease of the fetus and ...
M. de Haas, E. van der Schoot
openaire   +1 more source

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)

Bioethics, 2020
Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non‐invasive prenatal testing (NIPT) in first‐trimester ...
A. Kater-Kuipers, I. D. de Beaufort, R. Galjaard, E. Bunnik   +3 more
semanticscholar   +1 more source

Defending biomedical authority and regulating the womb as social space. Prenatal testing in the Polish press [PDF]

, 2010
The issue of abortion has been the topic of heated and frequent debate in post-Communist Poland. Parliamentary debate in 1998—9 centred around a legislative attempt to restrict prenatal testing, specifically amniocentesis, in order to further reduce the ...
Kramer, Anne-Marie, Kramer, Anne-Marie Caroline   +1 more
core   +1 more source

Prevalence of Prenatal HIV Screening in Massachusetts: Examining Patterns in Prenatal HIV Screening Using the Massachusetts Pregnancy Risk Assessment Monitoring System (PRAMS), 2007-2016

Journal of the International Association of Providers of AIDS Care, 2022
Prenatal HIV screening is critical to eliminate mother-to-child (MTC) HIV transmission. Although Massachusetts (MA) has near-zero MTC transmission rates, recent trends in statewide prenatal HIV testing are unknown.
Ndidiamaka Amutah-Onukagha PhD, MPH, Tonia J. Rhone MS, Mandy J. Hill DrPH, MPH, Alecia McGregor PhD, Rebecca Cohen MS   +4 more
doaj   +1 more source

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]

, 2013
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Louwen, Frank, Herrmann, Eva, Buxmann, Horst, Reitter, Anke, Stücker, Anja-Undine, Haberl, Annette Elisabeth, Schlößer, Rolf Lambert   +6 more
core   +1 more source

Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

Scientific Reports, 2021
The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting.
Sarang Younesi, Mohammad Mahdi Taheri Amin, Sedigheh Hantoushzadeh, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarressi, Shahram Savad, Saeed Delshad, Saloomeh Amidi, Taraneh Geranorimi, Fariba Navidpour, Soudeh Ghafouri-Fard   +11 more
doaj   +1 more source