Works matching DE "PRENATAL genetic testing"

Results: 512

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Published in:

2025

By:

Zhong, Guoxing;
Wu, Jiajia;
Zhong, Zeyan;
Chen, Dina;
Guan, Zhiyang;
Huang, Shaohui;
Chen, Jianhong

Publication type:

Case Study

A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0321859

By:

Bacal, Vanessa;
Li, Angela;
Shapiro, Heather;
Rana, Urvi;
Zwingerman, Rhonda;
Avery, Lisa;
Palermo, Alina;
Philipoppolous, Eleni;
Chan, Crystal

Publication type:

Article

Prenatal Diagnosis of ACTG2-Related Megacystis–Microcolon–Intestinal Hypoperistalsis Syndrome—Case Report and Systematic Review.

Published in:

2025

By:

Ravi, Neha;
Kumar, Sailesh;
Ramachandran, Aparna

Publication type:

Case Study

Metagenomic analysis of NIPT raw data suggests high negative predictive value for congenital cytomegalovirus infection screening.

Published in:

Ultrasound in Obstetrics & Gynecology, 2025, v. 65, n. 5, p. 653, doi. 10.1002/uog.29221

By:

Bourgon, N.;
Padioleau, I.;
Guibon, J.;
Fourgeaud, J.;
Lermine, A.;
Meurice, G.;
Guilleminot, T.;
Bussieres, L.;
Leruez‐Ville, M.;
Dupont, J.‐M.;
Ville, Y.

Publication type:

Article

Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing.

Published in:

PLoS Biology, 2015, v. 13, n. 8, p. 1, doi. 10.1371/journal.pbio.1002219

By:

Caplan, Arthur L.

Publication type:

Article

Informing policy for the Australian context – Costs, outcomes and cost savings of prenatal carrier screening for cystic fibrosis.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2010, v. 50, n. 1, p. 51, doi. 10.1111/j.1479-828X.2009.01111.x

By:

MAXWELL, Susannah;
BRAMELD, Kate;
YOUNGS, Leanne;
GEELHOED, Elizabeth;
O’LEARY, Peter

Publication type:

Article

Diencephalic-mesencephalic junction dysplasia: case report and literature review.

Published in:

Child's Nervous System, 2025, v. 41, n. 1, p. 1, doi. 10.1007/s00381-025-06808-2

By:

Herrada-Pineda, Tenoch;
Perez-Vazquez, Ana Karen;
Manrique-Guzman, Salvador;
Revilla-Pacheco, Francisco R.;
Torres-Olivas, Eduardo;
Wilches-Davalos, Maria Jose;
Sanchez-Zacarias, Tania Ivette;
Garza-Mayen, Gilda;
Cardona-Perez, Jorge Arturo

Publication type:

Article

Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.

Published in:

Child's Nervous System, 2020, v. 36, n. 8, p. 1645, doi. 10.1007/s00381-020-04526-5

By:

Etchegaray, Adolfo;
Juarez-Peñalva, Sofia;
Petracchi, Florencia;
Igarzabal, Laura

Publication type:

Article

CF gene tests backed for pregnant women.

Published in:: Nature, 1997, v. 386, n. 6627, p. 752
Publication type:: Article

Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

Published in:

2016

By:

Zhang, Di;
Ng, Vincent H.;
Wang, Zhaochen;
Zhai, Xiaomei;
Lie, Reidar K.

Publication type:

journal article

SCREENING SYNDROMES OUT: UPDATING THE INTERNATIONAL "GENOCIDE" VERNACULAR FOR A CHANGING TECHNOLOGICAL AGE.

Published in:

North Carolina Journal of International Law, 2020, v. 45, n. 1, p. 163

By:

Kara, Nur Iqbal

Publication type:

Article

Patients' preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks.

Published in:

Human Reproduction Open, 2019, v. 2019, n. 4, p. N.PAG, doi. 10.1093/hropen/hoz019

By:

Pastore, L M;
Mitchell, C N Cordeiro;
Rubin, L R;
Nicoloro-SantaBarbara, J;
Garzon, M C Genoff;
Lobel, M

Publication type:

Article

The association between the amount of fetal fraction in cell-free DNA testing and adverse pregnancy outcomes: A cohort study.

Published in:

International Journal of Reproductive Biomedicine, 2024, v. 22, n. 11, p. 919, doi. 10.18502/ijrm.v22i11.17824

By:

Aryavand, Maryam;
Nurzadeh, Maryam;
Ghaemi, Marjan;
Delfan, Sina Eskandari;
Marsoosi, Vajiheh

Publication type:

Article

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 4, p. 1775, doi. 10.3906/sag-2006-103

By:

DURMAZ, Burak;
BOLAT, Hilmi;
CENGİSİZ, Zehra;
AKERCAN, Fuat;
TÜRK, Tuba SÖZEN;
PARILTAY, Erhan;
SOLMAZ, Aslı Ece;
KAZANDI, Mert;
KARACA, Emin;
DURMAZ, Asude;
AYKUT, Ayça;
SAĞOL, Sermet;
AKIN, Haluk;
ÖZKINAY, Ferda;
ÇOĞULU, Özgür

Publication type:

Article

Is the management of Rh-Rh incompatibility with noninvasive fetal Rh genotyping for targeted prophylaxis cost-effective in the Turkish population?

Published in:

Turkish Journal of Medical Sciences, 2018, v. 48, n. 1, p. 1, doi. 10.3906/sag-1511-87

By:

DEMİREL, Emine;
KELEKÇİ, Sefa;
EKMEKCİ, Emre;
ŞENGÜL, Mustafa;
İRİ, Raziye;
ATASEVER, Melahat

Publication type:

Article

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing.

Published in:

2015

By:

Latendresse, Gwen;
Deneris, Angela

Publication type:

Journal Article

Trait anxiety, information modality, and responses to communications about prenatal genetic testing.

Published in:

2014

By:

Muller, Cécile;
Cameron, Linda

Publication type:

Journal Article

Testimony in Support of Indiana Senate Bill 334, a Bill to Prohibit Prenatal Discrimination by Prohibiting Abortion Based on Sex Selection or Genetic Abnormality.

Published in:

2017

By:

Prentice, David A.

Publication type:

Speech

Gender Identity Issues in Children and Adolescents.

Published in:

Issues in Law & Medicine, 2016, v. 31, n. 2, p. 235

By:

Van Meter, Quentin L.

Publication type:

Article

Prenatal Genetic Screening, Epistemic Justice, and Reproductive Autonomy.

Published in:

Hypatia, 2021, v. 36, n. 1, p. 1, doi. 10.1017/hyp.2020.50

By:

Knight, Amber;
Miller, Joshua

Publication type:

Article

Prenatal Whole Genome Sequencing.

Published in:

Hastings Center Report, 2012, v. 42, n. 4, p. 28, doi. 10.1002/hast.50

By:

Donley, Greer;
Hull, Sara Chandros;
Berkman, Benjamin E.

Publication type:

Article

letters.

Published in:: 2001
Publication type:: Letter

The Disability Rights Critique of Prenatal Genetic Testing.

Published in:: Hastings Center Report, 1999, v. 29, n. 5, p. S1, doi. 10.2307/3527746
Publication type:: Article

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.

Published in:

2024

By:

Brewer, Casey J.;
Coyan, Alyxis G.;
Smith, Nicki;
Jones, Brittany;
Smolarek, Teresa A.;
Liu, Jie

Publication type:

Case Study

Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2351

By:

Kong, Xiangsha;
Zhang, Lin;
Yang, Ruifeng;
Zhang, Haiying;
Ren, Meihong;
Wang, Xiang;
Zhu, Ling;
Chen, Hongsong;
Rao, Huiying

Publication type:

Article

Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.

Published in:

2024

By:

Chin, Hui‐Lin;
Benton, Miles C.;
Yang, Lin;
Poon, Kok Siong;
Tan, Karen M. L.;
Jamuar, Saumya S.;
Foo, Roger;
Law, Hai Yang;
Goh, Denise Li‐Meng;
Chong, Samuel S.;
de Sessions, Paola Florez

Publication type:

Case Study

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1838

By:

Hwang, Narae;
Jang, Ja‐Hyun;
Cho, Eun‐Hae;
Choi, Rihwa;
Choi, Suk‐Joo;
Park, Hyung‐Doo

Publication type:

Article

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1234

By:

Zhao, Xuechao;
Wang, Yanhong;
Mei, Shiyue;
Kong, Xiangdong

Publication type:

Article

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1053

By:

Akler, Gidon;
Birch, Ashley H.;
Schreiber‐Agus, Nicole;
Cai, Xiaoqiang;
Cai, Guiqing;
Shi, Lisong;
Yu, Chunli;
Larmore, Anastasia M.;
Mendiratta‐Vij, Geetu;
Elkhoury, Lama;
Dillon, Mitchell W.;
Zhu, Jun;
Mclellan, Andrew S.;
Suer, Funda E.;
Webb, Bryn D.;
Schadt, Eric E.;
Kornreich, Ruth;
Edelmann, Lisa

Publication type:

Article

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.687

By:

Lin, Ye;
Chen, Xihui;
Yang, Ying;
Che, Fengyu;
Zhang, Sijia;
Yuan, Lijuan;
Wu, Yuanming

Publication type:

Article

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.503

By:

Liu, Jingjing;
Zhu, Jing;
Yang, Jiyun;
Zhang, Xiang;
Zhang, Qi;
Zhao, Peiquan

Publication type:

Article

Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 634, doi. 10.1002/mgg3.249

By:

Calabrese, Giuseppe;
Fantasia, Donatella;
Alfonsi, Melissa;
Morizio, Elisena;
Celentano, Claudio;
Guanciali Franchi, Paolo;
Sabbatinelli, Giulia;
Palka, Chiara;
Benn, Peter;
Sitar, Gianmaria

Publication type:

Article

Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

Published in:

Experimental Dermatology, 2013, v. 22, n. 6, p. 392, doi. 10.1111/exd.12156

By:

Ma, Yonghui;
Gong, He;
Wen, Yaran

Publication type:

Article

Genetic mosaicism in dermatology: Clinical utility of genetic testing of skin lesions.

Published in:

Australasian Journal of Dermatology, 2020, v. 61, n. 1, p. 92, doi. 10.1111/ajd.13149

By:

Doolan, Brent J;
Robinson, Aaron J;
Regan, Matthew;
Ragunathan, Abiramy;
Winship, Ingrid

Publication type:

Article

Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases.

Published in:

2019

By:

Chen, J.;
Wang, J.;
Sun, H.;
Gu, X.;
Hao, X.;
Fu, Y.;
Zhang, Y.;
Liu, X.;
Zhang, H.;
Han, L.;
He, Y.

Publication type:

journal article

Brain angiogenic gene expression in fetuses with congenital heart disease.

Published in:

2018

By:

Sánchez, O.;
Ruiz‐Romero, A.;
Domínguez, C.;
Ferrer, Q.;
Ribera, I.;
Rodríguez‐Sureda, V.;
Alijotas, J.;
Arévalo, S.;
Carreras, E.;
Cabero, L.;
Llurba, E.;
Ruiz-Romero, A;
Rodríguez-Sureda, V

Publication type:

journal article

P20.05: Efficiency and limits of the non‐invasive prenatal genetic testing: a comparative review.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 191, doi. 10.1002/uog.19781

By:

Dimienescu, O.;
Liana, P.;
Moga, M.A.;
Dima, L.

Publication type:

Article

OP23.10: Prenatal genetic screening and neonatal outcomes in fetuses with echogenic intra‐abdominal structures.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 137, doi. 10.1002/uog.19613

By:

Dellapiana, G.;
Lee, E.;
Datkhaeva, I.;
Scibetta, E.;
Han, C.S.;
Platt, L.D.

Publication type:

Article

Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.

Published in:

2018

By:

Hu, P.;
Qiao, F.;
Wang, Y.;
Meng, L.;
Ji, X.;
Luo, C.;
Xu, T.;
Zhou, R.;
Zhang, J.;
Yu, B.;
Wang, L.;
Wang, T.;
Pan, Q.;
Ma, D.;
Liang, D.;
Xu, Z.

Publication type:

journal article

EP05.07: Cerebral hemodynamics in fetuses with transposition of great arteries: a multicentre study.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 283, doi. 10.1002/uog.18403

By:

Han, J.;
Weng, Z.;
Zhang, X.;
Zhang, Y.;
Ge, S.;
He, Y.

Publication type:

Article

Validation of combinatorial probe-anchor ligation-based sequencing as non-invasive prenatal test for trisomy at a central laboratory.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 49, doi. 10.1002/uog.16010

By:

Ma, J.;
Wang, Y.;
Wang, W.;
Dong, Y.;
Xu, C.;
Zhou, A.;
Xu, Z.;
Wu, Z.;
Tang, X.;
Chen, F.;
Yin, Y.;
Yan, M.;
Zhang, W.;
Mu, F.;
Yang, H.

Publication type:

Article

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.

Published in:

2017

By:

Syngelaki, A.;
Guerra, L.;
Ceccacci, I.;
Efeturk, T.;
Nicolaides, K. H.

Publication type:

journal article

Fetal cardiac axis in tetralogy of Fallot: associations with prenatal findings, genetic anomalies and postnatal outcome.

Published in:

2017

By:

Zhao, Y.;
Edington, S.;
Fleenor, J.;
Sinkovskaya, E.;
Porche, L.;
Abuhamad, A.

Publication type:

journal article

cfDNA screening performance: accounting for and reducing test failures.

Published in:

2017

By:

Cuckle, H.

Publication type:

Editorial

Discordant anomalies and karyotype in a monochorionic twin pregnancy: a call for comprehensive genetic evaluation.

Published in:

2017

By:

Rock, K. R.;
Millard, S.;
Seravalli, V.;
McShane, C.;
Kearney, J.;
Seitz, E.;
Baschat, A. A.;
Miller, J. L.

Publication type:

Case Study

Re: Rational and irrational ratios.

Published in:

2017

By:

Verlohren, S.;
Stepan, H.

Publication type:

Letter

Detection of 22q11.2 microduplication by cell-free DNA screening and chromosomal microarray in fetus with multiple anomalies.

Published in:

2016

By:

Wu, W.‐J.;
Ma, G.‐C.;
Lin, Y.‐S.;
Yeang, C.‐H.;
Ni, Y.‐H.;
Li, W.‐C.;
Tsai, H.‐D.;
Shur‐Fen Gau, S.;
Chen, M.

Publication type:

Case Study

Implications of fetoplacental mosaicism on cell-free DNA testing: a review of a common biological phenomenon.

Published in:

2016

By:

Grati, F. R.

Publication type:

Editorial

Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.

Published in:

2016

By:

Hynek, M.;
Zembol, F.;
Maresova, I.;
Bittóova, M.;
Koudova, M.;
Stejskal, D.;
Bittóova, M

Publication type:

journal article

EP09.03: Prenatal cf-DNA testing for Down's syndrome and other R chromosomal aneuploidies: clinical outcome in private and public health systems.

Published in:

2016

By:

Strah, D.M.;
Mujezinović, F.;
Mujezinović, F

Publication type:

journal article