Results 1 to 10 of about 26,184 (149)
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023 Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker +9 more
wiley +1 more source
Зголемени вредности на IL-8 во ран втор триместар и нивната поврзаност со предвремено раѓање [PDF]
, 2020 Cytokines (IL-1, IL-6, IL-8, TNF- alfa) are of crucial importance during pregnancy; they are produced by the placenta in the amniotic fluid and they are elevated in case of intrauterine inflammation.
Kaev, Ivo +3 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 This work describes our cross‐disciplinary experience identifying and evaluating 12 patients for clinical, biochemical, and familial features of Hypophosphatasia (HPP) from a retrospective database review of expanded carrier screening (ECS) results in our center.
Natalie M. Beck +9 more
wiley +1 more source
Pre-term pre-labour rupture of membranes and the role of amniocentesis [PDF]
, 2010 Pre-labour premature rupture of membranes (PPROM) is defined as rupture of membranes more than 1 hour prior to the onset of labour at
Abi-Nader, KN, Kenyon, AP, Pandya, PP
core +1 more source
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 +8 more
wiley +1 more source
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 +9 more
wiley +1 more source
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Prenatal Diagnosis, Volume 42, Issue 13, Page 1674-1681, December 2022., 2022 Abstract Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central
Veronica Giorgione +4 more
wiley +1 more source
“[She] said : ‘take the test’ and I took the test”. Relational work as a framework to approach directiveness in prenatal screening of Chinese clients in Hong Kong [PDF]
, 2013 In this paper we apply the framework of relational work, or the work individuals invest in maintaining their relationships (Locher and Watts 2005), to the analysis of prenatal screening (PS) for Down Syndrome of Chinese clients in Hong Kong.
Schnurr, Stephanie, Zayts, Olga
core +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 Caroline
core +2 more sources
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
, 2016 Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources