Results 181 to 190 of about 128,890 (256)

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report. [PDF]

Cureus
Joy P, Datta S, Sahoo S, Som TK, Tripathy PR, Gaikwad MR, Ayyanar P, Raghav SK.   +7 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Pediatric demographics and regional trends from congenital anomalies of the kidney and urinary tract: A U.S. population-based study from 1999 to 2020. [PDF]

Medicine (Baltimore)
Ibrahim M, Ahmad MH, Zahid H, Ahmad MA, Inam F, Sahil F, Afridi MK, Ahmad R, Arshad F, Ghafoor MU, Bilal M, Ali M.   +11 more
europepmc   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Short-term mortality prediction in children with gastrointestinal congenital anomalies using a random forest classifier. [PDF]

Pediatr Res
Serban AM.
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020. [PDF]

PLoS One
Silvestri Melkan MPI, Ferreira OS, Bassan LCL, Brizot ML, Francisco RPV, Rodrigues AS, Azevedo Carvalho M.   +6 more
europepmc   +1 more source

Epidemiological insights into neural tube and orofacial malformations in Chile using data from the National Registry of Congenital Anomalies (RENACH). [PDF]

BMC Pediatr
Busso D, Jiménez F, González MJ, Cárcamo M, Mosso L.   +4 more
europepmc   +1 more source