Results 21 to 30 of about 5,473 (268)
Normal postnatal outcome in an r(X) mosaic male fetus with retained XIST gene
Journal of Pediatric and Neonatal Individualized Medicine, 2020 We report the case of a pregnant woman who underwent prenatal diagnosis by chorionic villi sampling for increased risk of trisomy 21 due to advanced age and abnormal results of the first trimester combined screening test.
Maura Mingoia +3 more
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Frontiers in Microbiology, 2020 The detection of Zika virus (ZIKV) in immunoprivileged anatomical sites, potential sites for viral persistence, may guide the confirmation of undefined cases of ZIKV infection and also bring to light unknown pathways of viral transmission.
Emanuella Meneses Venceslau +39 more
doaj +1 more source
Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]
, 2000 The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I. +4 more
core +1 more source
Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET) [PDF]
, 1995 We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF–ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal ...
Berg, C.D.F. (Cardi) van den +8 more
core +1 more source
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters [PDF]
, 1995 Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the ...
Heuvel, C.M.M. (C. M M) van den +4 more
core +1 more source
Case Reports in Oncology, 2015 A 38-year-old primiparous mother (gravida 1, para 0) at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative.
Michiko Yuki +5 more
doaj +1 more source
False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review [PDF]
, 2016 Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin ...
Berg, C.D.F. (Cardi) van den +10 more
core +1 more source
Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations [PDF]
, 1995 Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype.
Berg, C.D.F. (Cardi) van den +5 more
core +1 more source
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield.
Dorte Launholt Lildballe +9 more
doaj +1 more source
Armaghane Danesh Bimonthly Journal, 2022 Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams +3 more
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