Works matching IS 01973851 AND DT 2024 AND VI 44 AND IP 3

Results: 16

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 343, doi. 10.1002/pd.6527

By:

Zhao, Emily;
Bomback, Miles;
Khan, Atlas;
Krishna Murthy, Sarath;
Solowiejczyk, David;
Vora, Neeta L.;
Gilmore, Kelly L.;
Giordano, Jessica L.;
Wapner, Ronald J.;
Sanna‐Cherchi, Simone;
Lyford, Alex;
Jelin, Angie C.;
Gharavi, Ali G.;
Hays, Thomas

Publication type:

Article

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 357, doi. 10.1002/pd.6536

By:

Haratz, Karina Krajden;
Malinger, Gustavo;
Erlik, Uri;
Goldstein, Rayna;
Shohat, Mordechai;
Birnbaum, Roee

Publication type:

Article

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 289, doi. 10.1002/pd.6533

By:

Eggenhuizen, Geerke M.;
Go, Attie T. J. I.;
Sauter, Zoë;
Hoffer, Mariëtte J. V.;
Haak, Monique C.;
Geeven, Geert;
Diderich, Karin E. M.;
Joosten, Marieke;
van den Born, Myrthe;
Srebniak, Malgorzata I.;
Van Opstal, Diane

Publication type:

Article

Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 304, doi. 10.1002/pd.6529

By:

Bellair, Michelle;
Amaral, Elisabete;
Ouren, Mason;
Roark, Cameron;
Kim, Jaeweon;
O'Connor, April;
Soriano, Adrianna;
Schindler, Margaret L.;
Wapner, Ronald J.;
Stone, Joanne L.;
Tavella, Nicola;
Merriam, Audrey;
Perley, Lauren;
Breman, Amy M.;
Beaudet, Arthur L.

Publication type:

Article

Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 280, doi. 10.1002/pd.6526

By:

Raaby, Line;
Lou, Stina;
Lodberg Ivarsen, Rikke Ramløv;
Sørensen, Jette;
Larsen, Ole Halfdan;
Vogel, Ida

Publication type:

Article

Knowledge gaps and confidence in counseling about aneuploidy screening and testing: A survey of prenatal care clinicians.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 297, doi. 10.1002/pd.6524

By:

Thorsen, M. M.;
Khanuja, K.;
Mahoney, R. C.;
Al‐Kouatly, H. B.;
Russo, M. L.

Publication type:

Article

Predictors of fetal death, neonatal survival and neurological outcomes in severe twin‐twin transfusion syndrome treated by laser ablation of placental vessels.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 325, doi. 10.1002/pd.6523

By:

Andrioli Peralta, Cleisson Fábio;
Jorge Rodrigues da Costa, Karina;
Peneluppi Horak, Ana Clara;
Pinheiro do Carmo Gomes, Samara;
Sousa Santos, Elton;
Galvão Barbante, Letícia;
Hideo Nakagawa Santos, Renato

Publication type:

Article

Ethical reflections on organizing the first human trial of artificial womb technologies.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 336, doi. 10.1002/pd.6521

By:

Cavolo, Alice;
Pizzolato, Daniel

Publication type:

Article

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 352, doi. 10.1002/pd.6519

By:

Favier, Maud;
Delanne, Julian;
Gorincour, Guillaume;
Faivre, Laurence;
Racine, Caroline;
Philippe, Christophe;
Duffourd, Yannis;
Vitobello, Antonio;
Rousseau, Thierry;
Martz, Olivia;
Tarris, Georges;
Oualiken, Camélia;
Thauvin‐Robinet, Christel;
Mau‐Them, Frédéric Tran

Publication type:

Article

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 270, doi. 10.1002/pd.6518

By:

Libman, Vitalia;
Macarov, Michal;
Friedlander, Yechiel;
Hochner‐Celnikier, Drorith;
Sompolinsky, Yishai;
Dior, Uri P.;
Osovsky, Michael;
Basel‐Salmon, Lina;
Wiznitzer, Arnon;
Neumark, Yehuda;
Meiner, Vardiella;
Frumkin, Ayala;
Hochner, Hagit;
Shkedi‐Rafid, Shiri

Publication type:

Article

Preterm membranes are mechanically more resistant than term membranes.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 317, doi. 10.1002/pd.6511

By:

Vergote, Simen;
Robmann, Serjosha;
Van Der Merwe, Johannes;
Richter, Jute;
Deprest, Jan;
Mazza, Edoardo

Publication type:

Article

Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 263, doi. 10.1002/pd.6507

By:

Rothschild, Harriet T.;
Lianoglou, Billie R.;
Sahin Hodoglugil, Nuriye N.;
Tick, Katie;
Brown, Julia E. H.;
Sparks, Teresa N.

Publication type:

Article

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 369, doi. 10.1002/pd.6506

By:

Verscaj, Courtney P.;
Smith, Carly;
Homeyer, Margaret;
Matalon, Dena R.

Publication type:

Article

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 364, doi. 10.1002/pd.6505

By:

Desnous, Beatrice;
Carles, Guillaume;
Riccardi, Florence;
Stremler, Nathalie;
Baravalle, Melissa;
El‐Louali, Fedouah;
Testud, Benoit;
Milh, Mathieu

Publication type:

Article

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 360, doi. 10.1002/pd.6504

By:

Bornstein, Eran;
Reiss, Sarah;
Malinger, Gustavo

Publication type:

Article

Issue Information.

Published in:: Prenatal Diagnosis, 2024, v. 44, n. 3, p. 261, doi. 10.1002/pd.6371
Publication type:: Article