Results 11 to 20 of about 262,419 (315)

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

Molecular Cytogenetics, 2018
Background Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little ...
Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang, Aihua Yin   +9 more
doaj   +1 more source

Cardiopatias Congénitas Complexas: Influência do Diagnóstico Pré-Natal [PDF]

, 2015
INTRODUCTION: Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions.
Anjos, R, Correia, M, Fortunato, F, Martins, D, Menezes, I, Nogueira, G, Teixeira, A   +6 more
core   +2 more sources

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Prenatal diagnosis of cystinosis [PDF]

The Journal of Pediatrics, 1975
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 35SL-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin.
States, Beatrice, Blazer, Bonnie, Harris, Dorothy, Segal, Stanton   +3 more
openaire   +2 more sources

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation

Molecular Cytogenetics, 2021
Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng   +5 more
doaj   +1 more source

Prenatal diagnosis for haemophilia: A nationwide survey among female carriers in the Netherlands [PDF]

, 2011
Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions.
Balak, D.M.W. (Deepak), Bom, J.G. (Anske) van der, Diemen-Homan, J.E.M. (J. E M) van, Gouw, S.C. (S.), Mauser-Bunschoten, E.P. (Eveline), Plug, I. (Iris), Rosendaal, F.R. (Frits), Vriends, A.H.J.T. (Anette)   +7 more
core   +3 more sources

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

Molecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin   +7 more
doaj   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Human Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, Aihua Yin   +7 more
doaj   +1 more source