Results 51 to 60 of about 21,310 (228)

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum   +4 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation
Chih-Ping Chen   +9 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin   +10 more
wiley   +1 more source

Unbalanced and Balanced Acrocentric Rearrangements Involving Chromosomes Other Than Chromosome 21 at Amniocentesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. Materials and Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay ...
Chih-Ping Chen   +10 more
doaj   +1 more source

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Quantitative assessment of the impact of cytomegalovirus (CMV) infection on fetal brain development beyond conventional imaging remains limited. We aimed to quantify cortical gyrification and brain volumes in CMV‐exposed fetuses, compare groups with varying severities of conventional MRI findings, and evaluate postnatal outcomes ...
Or R. Sadan   +14 more
wiley   +1 more source

Exploring Women’s Experiences of Amniocentesis: A Qualitative Content Analysis

open access: yesIranian Journal of Nursing and Midwifery Research
Background: The decision and experience of high-risk pregnant women to undergo amniocentesis can depend on their setting, context, social structures, and significant others, including cultural values and beliefs.
Jaruwan Kownaklai   +2 more
doaj   +1 more source

Impact of Second-Trimester Maternal Serum Screening on Prenatal Diagnosis of Down Syndrome and the use of Amniocentesis in the Taiwanese Population

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2005
Objective: To investigate the impact of second-trimester maternal serum screening on prenatal diagnosis of Down syndrome and the use of amniocentesis in the Taiwanese population.
Chih-Ping Chen   +2 more
doaj   +1 more source

The Diagnosis and Prenatal Management of Non‐RHD Alloimmunizations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy.
Mar Bennasar, Antoni Borrell
wiley   +1 more source

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