Works matching Prenatal diagnosis

Results: 5000

Prenatal Diagnosis of Retinoblastomas: A Scoping Review.

Published in:

International Journal of General Medicine, 2023, v. 16, p. 1101, doi. 10.2147/IJGM.S380634

By:

Rodriguez, Aurora;
Kelley, Caitlin;
Patel, Anjali;
Ramasubramanian, Aparna

Publication type:

Article

Entwicklungen in der Pränataldiagnostik.

Published in:

Zeitschrift für Familienforschung (ZzF), 2008, v. 20, n. 1, p. 62

By:

Rohde, Anke;
Woopen, Christiane;
Gembruch, Ulrich

Publication type:

Article

Prenatal Diagnosis of Congenital Epulis.

Published in:

Fetal Diagnosis & Therapy, 2006, v. 21, n. 4, p. 321, doi. 10.1159/000092458

By:

Thoma, V.;
Idrissi, B.;
Kohler, M.;
Becmeur, F.;
Viville, B.;
Favre, R.

Publication type:

Article

Factors influencing informed choice of prenatal diagnosis: women's feelings and attitudes.

Published in:

1998

By:

Crang-Svalenius, Elizabeth;
Dykes, Anna-Karin;
Jörgensen, Connie;
Crang-Svalenius, E;
Dykes, A K;
Jörgensen, C

Publication type:

journal article

VALORACIÓN ÉTICA DEL DIAGNÓSTICO DE ENFERMEDADES FUNDANTES DE DISCAPACIDAD EN LA VIDA PRENATAL.

Published in:

Acta Bioéthica, 2014, v. 20, n. 1, p. 31, doi. 10.4067/S1726-569X2014000100004

By:

Moya, Graciela

Publication type:

Article

Noninvasive prenatal diagnosis for pregnancies at risk for β-thalassaemia: a retrospective study.

Published in:

2021

By:

Lv, W;
Linpeng, S;
Li, Z;
Liang, D;
Jia, Z;
Meng, D;
Cram, DS;
Zhu, H;
Teng, Y;
Yin, A;
Wu, L;
Cram, D S

Publication type:

journal article

Should Non-Invasiveness Change Informed Consent Procedures for Prenatal Diagnosis?

Published in:

Health Care Analysis, 2011, v. 19, n. 2, p. 122, doi. 10.1007/s10728-010-0146-8

By:

Deans, Zuzana;
Newson, Ainsley

Publication type:

Article

Application of ultrasound evaluation of NT thickening and nasal bone dyscalcification combined with CMA in prenatal diagnosis of fetuses.

Published in:

Journal of Practical Medicine / Shiyong Yixue Zazhi, 2024, v. 40, n. 19, p. 2755, doi. 10.3969/j.issn.1006-5725.2024.19.015

By:

LIU Li'na;
WU Heming;
ZHENG Zhiyuan;
HUANG Shuxian;
SHE Lingna

Publication type:

Article

DIAGNOSTICUL PRENATAL.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 318

By:

Popescu, Valeriu;
Zamfirescu, Andrei

Publication type:

Article

Detection and Genetic Analysis of Small Supernumerary Marker Chromosomes in Prenatal Diagnosis.

Published in:

Cytogenetic & Genome Research, 2025, v. 165, n. 2, p. 70, doi. 10.1159/000546051

By:

Qin, Jiangfeng;
Zeng, Yanfei;
Luo, Yinghua;
Lu, Biyu;
Ya, Jiaolian;
Cai, Pengfei;
Zhang, Ling;
Mei, Yan;
Yuan, Dejian;
Wei, Xiaoni;
Xu, Yuchan

Publication type:

Article

Prenatal diagnosis of chiari type 1 malformation.

Published in:

2025

By:

Dandes, Mariana;
Massardier, Jerome;
Vinchon, Matthieu;
Szathmari, Alexandru;
Beuriat, Pierre Aurélien;
di Rocco, Federico;
Guibaud, Laurent

Publication type:

Case Study

Additional diagnostic value of CNV‐seq over conventional karyotyping in prenatal diagnosis: A systematic review and meta‐analysis.

Published in:

Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 7, p. 1641, doi. 10.1111/jog.15652

By:

Luo, Heng;
Wang, Qian;
Fu, Dan;
Gao, Jun;
Lu, Dan

Publication type:

Article

Prenatal diagnosis of mucopolysaccharidoses type II by two‐dimensional electrophoresis and mass spectrometry in amniotic fluid.

Published in:

Journal of Obstetrics & Gynaecology Research, 2022, v. 48, n. 3, p. 682, doi. 10.1111/jog.15135

By:

Aboulnasr, Aly A.;
Elnouri, Amr;
Abdel Sameea, Gamal;
Gouda, Amr S.;
Ibrahim, Mona M.;
Shalabi, Taghreed A.;
Gaber, Khaled R.

Publication type:

Article

Prenatal diagnosis of congenital portosystemic shunt: A single‐center study.

Published in:

Journal of Obstetrics & Gynaecology Research, 2020, v. 46, n. 10, p. 1988, doi. 10.1111/jog.14403

By:

Wang, Yan;
Yan, Yani;
Yang, Zhenjuan;
Wei, Jun;
Liu, Guoli;
Pei, Qiuyan

Publication type:

Article

Prenatal diagnosis of 5p deletion syndrome: Report of five cases.

Published in:

2019

By:

Mak, Annisa S. L.;
Ma, Teresa W. L.;
Chan, Kelvin Y. K.;
Kan, Anita S. Y.;
Tang, Mary H. Y.;
Leung, Kwok Y.

Publication type:

Case Study

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.

Published in:

Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 7, p. 1313, doi. 10.1111/jog.13647

By:

Yamaguchi, Tomoko;
Yamaguchi, Masatoshi;
Akeno, Keiko;
Fujisaki, Midori;
Sumiyoshi, Kaeko;
Ohashi, Masanao;
Sameshima, Hiroshi;
Ozaki, Mamoru;
Kato, Maki;
Kato, Takema;
Hosoba, Eriko;
Kurahashi, Hiroki

Publication type:

Article

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 12, p. 1821, doi. 10.1111/jog.13451

By:

So, Po Lam;
Cheng, Kwun Yue Yvonne;
Cheuk, Kwan Yiu;
Chiu, Wan Kam;
Mak, Shui Lam;
Mok, Sau Lan;
Lo, Tsz Kin;
Yung, Wai Kuen;
Lo, Fai Man;
Chung, Hon Yin Brian;
Kan, Sik Yau Anita;
Lee, Chin Peng;
Tang, Hoi Yin Mary

Publication type:

Article

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 7, p. 1111, doi. 10.1111/jog.13344

By:

Massalska, Diana;
Zimowski, Janusz Grzegorz;
Roszkowski, Tomasz;
Bijok, Julia;
Pawelec, Magdalena;
Bednarska ‐ Makaruk, Małgorzata

Publication type:

Article

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

Published in:

Journal of Obstetrics & Gynaecology Research, 2015, v. 41, n. 11, p. 1831, doi. 10.1111/jog.12791

By:

Bertucci, Emma;
Mazza, Vincenzo;
Lugli, Licia;
Ferrari, Fabrizio;
Stanghellini, Ilaria;
Percesepe, Antonio

Publication type:

Article

Prenatal diagnosis of cloacal malformations.

Published in:

2010

By:

Bischoff, Andrea;
Levitt, Marc A.;
Foong Yen Lim;
Guimarães, Carolina;
Peña, Alberto;
Lim, Foong Yen;
Guimarães, Carolina;
Peña, Alberto

Publication type:

journal article

Duodenal atresia: associated anomalies, prenatal diagnosis and outcome.

Published in:

2009

By:

Choudhry, M. S.;
Rahman, N.;
Boyd, P.;
Lakhoo, K.

Publication type:

journal article

Congenital duodenal obstruction: does prenatal diagnosis improve the outcome?

Published in:

Pediatric Surgery International, 2004, v. 20, n. 8, p. 582, doi. 10.1007/s00383-004-1235-2

By:

Bittencourt, Daniel;
Barini, Ricardo;
Marba, Sergio;
Sbragia, Lourenço

Publication type:

Article

The prenatal diagnosis and classification of cleft palate: the role and value of magnetic resonance imaging.

Published in:

2019

By:

Zheng, Weizeng;
Li, Baohua;
Zou, Yu;
Lou, Fenlan

Publication type:

journal article

Prenatal Diagnosis of Anomalous Origin of the Left Pulmonary Artery in Fetus with a Right-Sided Aortic Arch: Case Report and Review of the Literature.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 1, p. 30, doi. 10.1159/000541432

By:

Szlang, Laura;
Chaoui, Rabih;
Opgen-Rhein, Bernd;
Cho, Mi-Young;
Henrich, Wolfgang

Publication type:

Article

Prenatal Diagnosis of Fetal Aqueductal Stenosis: A Multicenter Prospective Observational Study through the North American Fetal Therapy Network.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 216, doi. 10.1159/000536037

By:

Emery, Stephen P.;
Lopa, Samia;
Peterson, Erika;
Jelin, Angie C.;
Treadwell, Marjorie C.;
Gebb, Juliana;
Galan, Henry L.;
Bergh, Eric;
Criebaum, Amanda;
McLennan, Amelia;
Lillegard, Joseph;
Blumenfeld, Yair J.

Publication type:

Article

Prenatal Diagnosis of Skeletal Dysplasias: What Can CT Do for You?

Published in:

Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 61, doi. 10.1159/000528692

By:

Snyder, Elizabeth J.;
Moldenhauer, Julie S.;
Victoria, Teresa

Publication type:

Article

Noninvasive Prenatal Diagnosis of Beta-Thalassemia Disease by Using Digital PCR Analysis of Cell-Free Fetal DNA in Maternal Plasma.

Published in:

Fetal Diagnosis & Therapy, 2022, v. 49, n. 11/12, p. 468, doi. 10.1159/000528033

By:

Charoenkwan, Pimlak;
Traisrisilp, Kuntharee;
Sirichotiyakul, Supatra;
Phusua, Arunee;
Sanguansermsri, Torpong;
Tongsong, Theera

Publication type:

Article

Prenatal Diagnosis of an Intrathoracic Left Kidney Associated with Congenital Diaphragmatic Hernia: Case Report and Systematic Review.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 11, p. 3608, doi. 10.3390/jcm12113608

By:

Orlandi, Giuliana;
Toscano, Paolo;
Gabrielli, Olimpia;
Di Lella, Enrica;
Lettieri, Antonia;
Manzo, Luigi;
Mazzarelli, Laura Letizia;
Sica, Carmine;
Di Meglio, Letizia;
Di Meglio, Lavinia;
Gulino, Ferdinando Antonio;
Incognito, Giosuè Giordano;
Tuscano, Attilio;
Cianci, Stefano;
Di Meglio, Aniello

Publication type:

Article

Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 4, p. 1688, doi. 10.3390/jcm12041688

By:

Xu, Naixin;
Shi, Weihui;
Cao, Xianling;
Zhou, Xuanyou;
Huang, Hefeng;
Chen, Songchang;
Xu, Chenming

Publication type:

Article

The Strategy against Iatrogenic Prematurity Due to True Umbilical Knot: From Prenatal Diagnosis Challenges to the Favorable Fetal Outcome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 3, p. 818, doi. 10.3390/jcm11030818

By:

Bohiltea, Roxana Elena;
Varlas, Valentin-Nicolae;
Dima, Vlad;
Iordache, Ana-Maria;
Salmen, Teodor;
Mihai, Bianca-Margareta;
Bohiltea, Alexia Teodora;
Vladareanu, Emilia Maria;
Ducu, Ioniță;
Grigoriu, Corina

Publication type:

Article

Identification of novel COL4A5 variants and prenatal diagnosis in three large families.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92649-7

By:

Zeng, Baitao;
Yu, Yao;
Liu, Cong;
Li, Xinyu;
Lu, Qing;
Chen, Zhongfa;
Chen, Jia;
Zou, Jun;
Yang, Bicheng;
Liu, Yanqiu;
Zou, Yongyi

Publication type:

Article

Prenatal diagnosis of cloacal anomalies.

Published in:

BJU International, 2002, v. 89, n. 1, p. 78, doi. 10.1046/j.1464-410X.2002.02556.x

By:

Warne, S.;
Chitty, L.S.;
Wilcox, D.T.

Publication type:

Article

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.607838

By:

Wang, Ye;
Zhong, Liangying;
Xu, Yan;
Ding, Lei;
Ji, Yuanjun;
Schutz, Sacha;
Férec, Claude;
Cooper, David N.;
Xu, Caixia;
Chen, Jian-Min;
Luo, Yanmin

Publication type:

Article

Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.571219

By:

Xiang, Jingjing;
Ding, Yang;
Song, Xiaoyan;
Mao, Jun;
Liu, Minjuan;
Liu, Yinghua;
Huang, Chao;
Zhang, Qin;
Wang, Ting

Publication type:

Article

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00496

By:

Xiao, Bing;
Qiu, Wenjuan;
Ye, Jun;
Zhang, Huiwen;
Zhu, Hong;
Wang, Lei;
Liang, Lili;
Xu, Feng;
Chen, Ting;
Xu, Yan;
Yu, Yongguo;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases.

Published in:

International Journal of Infertility & Fetal Medicine, 2015, v. 6, n. 2, p. 88, doi. 10.5005/jp-journals-10016-1107

By:

Vasudeva, Akhila;
Amin, Sapna V.;
Kadavigere, Rajagopal;
Girisha, Katta M.;
Rai, Lavanya

Publication type:

Article

Importance in prenatal diagnosis of the detection of isolated aberrant right subclavian artery.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2014, v. 22, n. 1, p. 61, doi. 10.2399/prn.14.0221011

By:

Kızılkale, Özge;
Torun, Canan Yılmaz;
Yeşiladalı, Mert;
Cenksoy, Pınar;
Yıldırım, Gazi;
Api, Oluş

Publication type:

Article

Non-invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next-generation sequencing.

Published in:

Molecular Medicine Reports, 2020, v. 22, n. 2, p. 1547, doi. 10.3892/mmr.2020.11234

By:

Yang, Xu;
Ye, Yanchou;
Fan, Dongmei;
Lin, Sheng;
Li, Ming;
Hou, Hongying;
Zhang, Jun;
Yang, Xuexi

Publication type:

Article

Prenatal diagnosis of placenta and umbilical cord pathologies by three-dimensional ultrasound: pictorial essay.

Published in:

2015

By:

de Castro Rezende, Guilherme;
Araujo Júnior, Edward

Publication type:

journal article

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing.

Published in:

Annals of Medicine, 2021, v. 53, n. 1, p. 1286, doi. 10.1080/07853890.2021.1962966

By:

Shi, Xiaomei;
Tang, Hui;
Lu, Jian;
Yang, Xiue;
Ding, Hongke;
Wu, Jing

Publication type:

Article

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing.

Published in:

Annals of Medicine, 2021, v. 53, n. 1, p. 1286, doi. 10.1080/07853890.2021.1962966

By:

Xiaomei Shi;
Hui Tang;
Jian Lu;
Xiue Yang;
Hongke Ding;
Jing Wu

Publication type:

Article

Analysis of fetal blood using capillary electrophoresis system: a simple method for prenatal diagnosis of severe thalassemia diseases.

Published in:

European Journal of Haematology, 2009, v. 83, n. 1, p. 57, doi. 10.1111/j.1600-0609.2009.01245.x

By:

Srivorakun, Hataichanok;
Fucharoen, Goonnapa;
Sae-Ung, Nattaya;
Sanchaisuriya, Kanokwan;
Ratanasiri, Thawalwong;
Fucharoen, Supan

Publication type:

Article

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.

Published in:

European Journal of Haematology, 2005, v. 74, n. 5, p. 389, doi. 10.1111/j.1600-0609.2004.00388.x

By:

Leroux, Alena;
Leturcq, France;
Deburgrave, Nathalie;
Szajnert, Marie-France

Publication type:

Article

Mass spectrometry and two-dimensional electrophoresis in prenatal diagnosis of mucopolysaccharidosis type VI.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00234-8

By:

Aboulnasr, Aly A.;
Gaber, Khaled R.;
Abdel Sameea, Gamal;
Gouda, Amr S.;
Ibrahim, Mona M.;
Shalabi, Taghreed A.;
Elnouri, Amr

Publication type:

Article

Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population.

Published in:

Journal of Family & Reproductive Health, 2009, v. 3, n. 2, p. 51

By:

Nasiri, Habib;
Dastan, Jila;
Seifi, Mohammad Hasan;
Dalooi, Noori;
Ghaffari, Saeed Reza

Publication type:

Article

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, p. 1, doi. 10.1186/s13039-023-00668-8

By:

Xu, Chenxia;
Li, Miaoyuan;
Gu, Tiancai;
Xie, Fenghua;
Zhang, Yanfang;
Wang, Degang;
Peng, Jianming

Publication type:

Article

Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00659-9

By:

Wang, You;
Zhou, Hang;
Fu, Fang;
Cheng, Ken;
Huang, Ruibin;
Li, Ru;
Li, Dongzhi;
Liao, Can

Publication type:

Article

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.

Published in:

2023

By:

Yang, Yang;
Hao, Wang

Publication type:

Case Study

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.

Published in:

2022

By:

Tang, Wenjuan;
Chen, Guowei;
Xia, Jingshu;
Zhang, Ying

Publication type:

Case Study

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00537-2

By:

Zhou, Lili;
Zheng, Zhaoke;
Xu, Yunzhi;
Lv, Xiaoxiao;
Xu, Chenyang;
Xu, Xueqin

Publication type:

Article