Works matching IS 01973851 AND DT 2024 AND VI 44 AND IP 9

Results: 16

Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1033, doi. 10.1002/pd.6621

By:

Becking, Ellis C.;
Henneman, Lidewij;
Crombag, Neeltje M. T. H.;
Bertorotta, Janneke;
Rijsbergen, Ylana;
Bax, Caroline J.;
van Vliet‐Lachotzki, Elsbeth;
Scheffer, Peter G.;
Bekker, Mireille N.

Publication type:

Article

Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1088, doi. 10.1002/pd.6626

By:

Papastefan, Steven T.;
Alhajjat, Amir M.;
Ott, Katherine C.;
Liesman, Daniel R.;
Langereis, Morgan M.;
Boat, Anne C.;
Pombar, Xavier F.;
Kominiarek, Michelle A.;
Bowman, Robin M.;
Shaaban, Aimen F.

Publication type:

Article

Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1105, doi. 10.1002/pd.6619

By:

Yu, Qiu‐Xia;
Liu, Na;
Zhen, Li;
Lin, Xiao‐Mei;
Wen, Yun‐Jing;
Li, Dong‐Zhi

Publication type:

Article

Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1062, doi. 10.1002/pd.6616

By:

Merc, Maja Dolanc;
Kotnik, Urška;
Peterlin, Borut;
Lovrecic, Luca

Publication type:

Article

Cover Image.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. i, doi. 10.1002/pd.6648

By:

Liscovitch‐Brauer, Noa;
Mesika, Ravit;
Rabinowitz, Tom;
Volkov, Hadas;
Grad, Meitar;
Matar, Reut Tomashov;
Basel‐Salmon, Lina;
Tadmor, Oren;
Beker, Amir;
Shomron, Noam

Publication type:

Article

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1119, doi. 10.1002/pd.6632

By:

Smith, Carly M.;
Guinon, Kristi;
Bachir, Suha;
Tise, Christina G.

Publication type:

Article

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1098, doi. 10.1002/pd.6631

By:

Cuvelier, Vivien;
Trost, Detlef;
Stichelbout, Morgane;
Michot, Caroline;
Cormier‐Daire, Valérie;
Boutry, Nathalie;
Machet, Elise;
Vincent‐Delorme, Catherine

Publication type:

Article

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1115, doi. 10.1002/pd.6629

By:

Favier, Maud;
Dard, Rodolph;
Gorincour, Guillaume;
Tessier, Aude;
Motte‐Signoret, Emmanuelle;
Duvillier, Clemence;
Racine, Caroline;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Mau‐Them, Frédéric Tran

Publication type:

Article

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1053, doi. 10.1002/pd.6628

By:

Lin, Liling;
Zhang, Ying;
Pan, Hong;
Wang, Jingmin;
Qi, Yu;
Ma, Yinan

Publication type:

Article

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1111, doi. 10.1002/pd.6627

By:

Wang, Michelle Joy;
Febres‐Cordero, Daniela A.;
Poorvu, Tabitha;
Delerme, Paula;
Hecht, Jonathan;
Oyelese, Yinka;
O'Brien, Barbara;
Ferrés, Millie Anne

Publication type:

Article

In‐utero post‐mortem MRI, opportunistic imaging with diagnostic yield.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1123, doi. 10.1002/pd.6582

By:

Lane, Annah M.;
Christie, James;
Arthurs, Owen J.;
Goergen, Stacy K.

Publication type:

Article

Machine learning‐enhanced noninvasive prenatal testing of monogenic disorders.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1024, doi. 10.1002/pd.6570

By:

Liscovitch‐Brauer, Noa;
Mesika, Ravit;
Rabinowitz, Tom;
Volkov, Hadas;
Grad, Meitar;
Matar, Reut Tomashov;
Basel‐Salmon, Lina;
Tadmor, Oren;
Beker, Amir;
Shomron, Noam

Publication type:

Article

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1015, doi. 10.1002/pd.6565

By:

Kong, Lingrong;
Zhao, Zhenhua;
Fu, Xinyu;
Li, Huanyun;
Zhu, Jingqi;
Wu, Di;
Kong, Xiangdong;
Sun, Luming

Publication type:

Article

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1073, doi. 10.1002/pd.6618

By:

Guilbaud, Lucie;
Carreras, Elena;
Garel, Catherine;
Maiz, Nerea;
Dhombres, Ferdinand;
Deprest, Jan;
Jouannic, Jean‐Marie

Publication type:

Article

Issue Information.

Published in:: Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1013, doi. 10.1002/pd.6377
Publication type:: Article

A capture‐based method of prenatal cell‐free DNA screening for autosomal recessive non‐syndromic hearing loss.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1043, doi. 10.1002/pd.6550

By:

Mu, Qian;
Bai, Ling;
Xu, Bing;
Du, Huawen;
Jiang, Zhaoyun;
Huang, Shasha;
Gao, Bo;
Wu, Qixi;
Zhao, Hanqing;
Dai, Pu;
Jiang, Yi

Publication type:

Article