Works matching IS 01973851 AND DT 2022 AND VI 42 AND IP 13

Results: 16

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1686, doi. 10.1002/pd.6269

By:

Brar, Bobby K.;
Thompson, Marisa Gilstrop;
Vora, Neeta L.;
Gilmore, Kelly;
Blakemore, Karin;
Miller, Kristen A.;
Giordano, Jessica;
Dufke, Andreas;
Wong, Beatrix;
Stover, Samantha;
Lianoglou, Billie;
Van den Veyver, Ignatia;
Dempsey, Esther;
Rosner, Mara;
Chong, Karen;
Chitayat, David;
Sparks, Teresa N.;
Norton, Mary E.;
Wapner, Ronald;
Baranano, Kristin

Publication type:

Article

Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1682, doi. 10.1002/pd.6272

By:

Saini, Neelam;
Vijayasree, Venkatapuram;
Nandury, Eshwar Chandra;
Dalal, Ashwin;
Aggarwal, Shagun

Publication type:

Article

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1575, doi. 10.1002/pd.6271

By:

Grati, Francesca Romana;
Bestetti, Ilaria;
De Siero, Daria;
Malvestiti, Francesca;
Villa, Nicoletta;
Sala, Elena;
Crosti, Francesca;
Parisi, Valentina;
Nardone, Anna Maria;
Di Giacomo, Gianluca;
Pettinari, Antonella;
Tortora, Giada;
Montaldi, Annamaria;
Calò, Annapaola;
Saccilotto, Donatella;
Zanchetti, Sara;
Celli, Paola;
Guerneri, Silvana;
Silipigni, Rosamaria;
Cardarelli, Laura

Publication type:

Article

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1643, doi. 10.1002/pd.6270

By:

Stewart, Chantal;
Owusu‐Bempah, Atta;
Boutall, Alison;
Barr, Sonia;
Wessels, Tina‐Marié;
Fieggen, Karen

Publication type:

Article

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1627, doi. 10.1002/pd.6268

By:

Boisson, Marie;
Cordier, Anne‐Gael;
Martinovic, Jelena;
Receveur, Aline;
Mouka, Aurélie;
Diot, Romain;
Egoroff, Catherine;
Esnault, Geoffroy;
Drévillon, Loïc;
Benachi, Alexandra;
Tachdjian, Gérard;
Tosca, Lucie

Publication type:

Article

Do reproductive history and information given through genetic counselling influence patients' decisions on mosaic embryo transfer?

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1650, doi. 10.1002/pd.6267

By:

Coll, Lluc;
Parriego, Mònica;
Palacios, Gabriela;
Garcia, Sandra;
Boada, Montserrat;
Coroleu, Buenaventura;
Polyzos, Nikolaos P.;
Vidal, Francesca;
Veiga, Anna

Publication type:

Article

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1674, doi. 10.1002/pd.6266

By:

Giorgione, Veronica;
Haratz, Karina Krajden;
Constantini, Shlomi;
Birnbaum, Roee;
Malinger, Gustavo

Publication type:

Article

Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1587, doi. 10.1002/pd.6262

By:

Kantor, Valerie;
Mo, Lihong;
DiNonno, Wendy;
Howard, Katherine;
Palsuledesai, Charuta C.;
Parmar, Sheetal;
Chithiwala, Zahabiya;
Jelsema, Russ;
Xu, Wenbo;
Hedriana, Herman L.

Publication type:

Article

Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1612, doi. 10.1002/pd.6260

By:

van Dijk, Marie;
Boussata, Souad;
Janssen, Dianta;
Afink, Gijs;
Jebbink, Jiska;
van Maarle, Merel;
Wortelboer, Esther;
Kooper, Angelique;
Pajkrt, Eva

Publication type:

Article

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1622, doi. 10.1002/pd.6259

By:

Yu, Qiu‐Xia;
Li, Yan‐Lin;
Zhang, Yong‐Ling;
Lin, Xiao‐Mei;
Zhen, Li;
Li, Dong‐Zhi

Publication type:

Article

Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1667, doi. 10.1002/pd.6258

By:

Sepulveda, Francisco;
Montoya, Francisca;
Vallejos, Joaquin;
Sepulveda, Waldo

Publication type:

Article

The impact of maternal and geographical factors on the uptake of non‐invasive prenatal testing: A retrospective cohort study.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1594, doi. 10.1002/pd.6257

By:

Tweneboa Kodua, Ama Adutwumwaa;
Fell, Deshayne Blayre;
Armour, Christine;
Dougan, Shelley;
Bellai‐Dussault, Kara;
Little, Julian

Publication type:

Article

Increased use of diagnostic testing after increased nuchal translucency: The influence of non‐invasive prenatal testing and chromosomal microarray.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1606, doi. 10.1002/pd.6255

By:

Bunnell, Megan E.;
Adams, Sophie;
Pelletier, Andrea;
Hoffman Sage, Yael

Publication type:

Article

Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging.

Published in:

2022

By:

Liu, Ke;
Zhu, Ming;
Dong, Su‐Zhen;
Dong, Su-Zhen

Publication type:

journal article

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1658, doi. 10.1002/pd.6253

By:

Freeman, Lucinda;
Delatycki, Martin B.;
Leach Scully, Jackie;
Kirk, Edwin P.

Publication type:

Article

Issue Information.

Published in:: Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1573, doi. 10.1002/pd.5970
Publication type:: Article