Results 201 to 210 of about 97,595 (299)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review. [PDF]

Case Rep Gastrointest Med
Niu ZY, Zhu MF, Tao M, Zhang C, Gu F, Li J.   +5 more
europepmc   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Hard Cases do not Justify Partial Birth Abortion [PDF]

, 2007
Baggot, Paddy Jim
core   +1 more source

Selective Feticide in a Dichorionic Twin Pregnancy After IVF Following Diagnosis of Trisomy 21 in One Twin: A Case Report. [PDF]

Cureus
Muracevic-Begovic B, Mujkanovic-Dzino A, Hodzic J.   +2 more
europepmc   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing. [PDF]

Bioinformatics
Barco-Armengol N, Yubero D, Xiol C, Catasús N, Martí-Sánchez L, Armstrong J, Palau F, Fernandez G.   +7 more
europepmc   +1 more source

The association between social vulnerability and racial disparities in preterm birth

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Objective To evaluate the association between county‐level social vulnerability and preterm birth and assess whether racial disparities vary across levels of vulnerability. Methods This cross‐sectional study utilized restricted Centers for Disease Control and Prevention natality data from 2023.
Anita Pershad, Gabby Adams, Lindsay Robbins, George Saade, Tetsuya Kawakita   +4 more
wiley   +1 more source

Trisomy [PDF]

, 2019
openaire   +1 more source

Virality versus veracity: A systematic review of TikTok information on prenatal aneuploidy testing

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Objective Pregnant people are increasingly utilizing TikTok to understand medical information. However, the accuracy and reliability of this content remain largely unexamined. This study aimed to evaluate videos on prenatal aneuploidy testing by engagement, reliability, and quality, comparing results by content category and account type. Study
Ashley S. Houlihan, Justine Elshama, Emma Kelley, Adam K. Lewkowitz, Melissa L. Russo, Margaret M. Thorsen   +5 more
wiley   +1 more source