An international registry of survivors with Hb Bart's hydrops fetalis syndrome
Abstract Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α0-
thalassemia is considered a universally fatal disorder. However, over the last 3 decades …
thalassemia is considered a universally fatal disorder. However, over the last 3 decades …
Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy
BACKGROUND Proper folliculogenesis is fundamental to obtain a competent oocyte that,
once fertilized, can support the acquisition of embryo developmental competence and …
once fertilized, can support the acquisition of embryo developmental competence and …
Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA
I Hudecova, RWK Chiu - Best practice & research Clinical obstetrics & …, 2017 - Elsevier
Highlights•NIPT of fetal aneuploidies has been implemented as a prenatal screening
test.•Thalassemia served as a disease model for developing NIPT for monogenic …
test.•Thalassemia served as a disease model for developing NIPT for monogenic …
Non-invasive prenatal testing using cell free DNA in maternal plasma: recent developments and future prospects
P Benn - Journal of clinical medicine, 2014 - mdpi.com
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal
testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be …
testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be …
Thalassaemia screening and confirmation of carriers in parents
AN Barrett, R Saminathan, M Choolani - Best Practice & Research Clinical …, 2017 - Elsevier
Highlights•Measurement of RBC indices and HbA 2 and HbF percentages are essential for
thalassaemia screening.•Co-inheritance of globin gene variants with β-thalassaemia …
thalassaemia screening.•Co-inheritance of globin gene variants with β-thalassaemia …
Liquid biopsy: state of reproductive medicine and beyond
G Schobers, R Koeck, D Pellaers… - Human …, 2021 - academic.oup.com
Liquid biopsy is the process of sampling and analyzing body fluids, which enables non-
invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad …
invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad …
Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening
Y Luo, B Jia, K Yan, S Liu, X Song… - Molecular genetics & …, 2019 - Wiley Online Library
Background The noninvasive prenatal testing (NIPT) has been successfully used in the
clinical screening of fetal trisomy 13, 18, and 21 in the last few years and researches on …
clinical screening of fetal trisomy 13, 18, and 21 in the last few years and researches on …
In utero hematopoietic cell transplantation for hemoglobinopathies
SC Derderian, C Jeanty, MC Walters… - Frontiers in …, 2015 - frontiersin.org
In utero hematopoietic cell transplantation (IUHCTx) is a promising strategy to circumvent
the challenges of postnatal hematopoietic stem cell (HSC) transplantation. The goal of …
the challenges of postnatal hematopoietic stem cell (HSC) transplantation. The goal of …
A pilot study of noninvasive prenatal diagnosis of alpha-and beta-thalassemia with target capture sequencing of cell-free fetal DNA in maternal blood
W Wang, Y Yuan, H Zheng, Y Wang… - Genetic testing and …, 2017 - liebertpub.com
Aims: Thalassemia is a dangerous hematolytic genetic disease. In south China,∼ 24%
Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that …
Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that …
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing
Noninvasive prenatal testing (NIPT), which involves analysis of circulating cell-free fetal
DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental …
DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental …