Results 21 to 30 of about 4,187,133 (314)

Genetics in prenatal diagnosis

Singapore Medical Journal, 2023
The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed ...
Karen Mei Xian Lim, Aniza Puteri Mahyuddin, Arundhati Tushar Gosavi, Mahesh Choolani   +3 more
openaire   +3 more sources

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

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

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

Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia? [PDF]

, 2015
OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA ...
A. Bonnard, C. Garabedian, C. Langlois, F. Auber, F. Gottrand, French Network on Atresia, L. Michaud, N. Khen-Dunlop, R. Sfeir, T. Gelas, V. Houfflin-Debarge   +10 more
core   +4 more sources

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Molecular Cytogenetics, 2020
Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu, Shaohua Tang   +6 more
doaj   +1 more source

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

BMJ Open, 2019
Objectives To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.
M. Bakker, J. Bergman, S. Krikov, E. Amar, G. Cocchi, J. Cragan, H. D. de Walle, M. Gatt, B. Groisman, Shiliang Liu, W. Nembhard, A. Pierini, A. Rissmann, Shanthi Chidambarathanu, Antonin Sipek Jr, E. Szabová, G. Tagliabue, D. Tucker, P. Mastroiacovo, L. Botto   +19 more
semanticscholar   +1 more source

Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l’œsophage de type III ? [PDF]

, 2015
OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010.
A. Bonnard, A. Breton, A. Echaieb, C. Borderon, C. Garabedian, C. Langlois, C. Laplace, C. Pelatan, C. Piolat, D. Aubert, D. Weil, E. Habonimana, E. Sapin, F. Auber, F. Becmeur, F. Elbaz, F. Gottrand, F. Lavrand, G. Podevin, H. Allal, H. Lardy, J. Breaud, J. Gaudin, J.L. Lemelle, J.L. Michel, L. Fourcade, L. Michaud, M. Lopez, M. Pouzac-Arnould, M.Laurence Polimerol, N. Khen-Dunlop, O. Jaby, P. Buisson, P. de Vries, P. Delagausie, R. Sfeir, S. Geiss, T. Gelas, T. Merrot, T. Petit, V. Fouquet, V. Houfflin-Debarge   +41 more
core   +4 more sources