Results 41 to 50 of about 34,383 (273)

Analysis of the results of amniocentesis performed at the University clinical centre of the Republic of Srpska [PDF]

Scripta Medica, 2017
Introduction: Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations.
Marić Nina, Petrović-Tepić Snežana, Predojević-Samardžić Jelica, Ljuboja Olivera   +3 more
doaj  

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome. [PDF]

Prenat Diagn
Abstract Knobloch Syndrome‐1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ...
Carmant LS, Miller E, Chitayat D, Hedges S, McGivern B, Harris K, Chong K, Shinar S.   +7 more
europepmc   +2 more sources

Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect [PDF]

, 1981
We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4–80 ...
AD Smith, AK Buamah, B Nørgaard-Pedersen, CB Laurell, CM Gosden, CM Gosden, CM Gosden, D Bignami, E Crouch, GR Sutherland, LB Chen, LF Eng, LF Eng, M Schachner, M Schachner, M Seppälä, NJ Wald, S Sarkar, T Voigtländer   +18 more
core   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +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

Taiwanese 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, Chen-Ju Lin, Wayseen Wang   +2 more
doaj   +1 more source

Pregnancy loss after amniocentesis and chorionic villus sampling: Cohort study

Slovenian Journal of Public Health, 2020
Introduction: To estimate the procedure-related risks of pregnancy loss following chorionic villus sampling (CVS) and amniocentesis (AC) compared to pregnancies without procedure.
Likar Ivana Paljk, Jere Ksenija Slavec, Možina Teja, Verdenik Ivan, Tul Nataša   +4 more
doaj   +1 more source

Reference values for interleukin‐6 in the amniotic fluid of asymptomatic pregnant women

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis.
Ester delBarco, Clara Franco‐Jarava, Mireia Vargas, Nerea Maíz, Silvia Arevalo, Maria Ángeles Sánchez, Maria Teresa Avilés, Carlota Rodó, Manel Mendoza, Maria Goya, Manuel Hernández‐González, Elena Carreras   +11 more
doaj   +1 more source

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics [PDF]

, 1990
DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization.
Cremer, Thomas, Daumer, C., Jauch, Anna, Lichter, Peter, Murken, J., Schroeder-Kurth, T.   +5 more
core   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

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

Taiwanese 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, Schu-Rern Chern, Pei-Chen Wu, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source