Results 81 to 90 of about 28,714 (240)

Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations.
Chaya M. Goldman, Sharon Lewis, John Massie, Edwin P. Kirk, Allison Symons, Martin B. Delatycki   +5 more
wiley   +1 more source

Five cases of brain injury following amniocentesis in mid‐term pregnancy [PDF]

, 2000
M. V. Squier, P. Chamberlain, Zenobia Zaiwalla, P. Anslow, J.M. Oxbury, Sharon W. Gould, M A McShane   +6 more
openalex   +1 more source

Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
We present the most comprehensive synthesis to date of prenatal phenotypes associated with PPP2R1A‐related neurodevelopmental disorders. Ventriculomegaly, callosal anomalies, and heart defects are key prenatal indicators, supporting early diagnosis and informed genetic counseling.
Jiancheng Hu, Jialun Pang, Lin Zhou, Haiyan Kuang, Wenxian Yu, Ying Peng   +5 more
wiley   +1 more source

Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies [PDF]

, 2000
C.-P. Chen
openalex   +1 more source

A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses with Overgrowth Syndrome and/or Cerebral Malformations Due to Abnormalities in MTOR Pathway Genes. ABSTRACT Objectives To investigate the abnormal development of cerebral cortical sulci and gyri in fetuses with Overgrowth Syndrome and/or Cerebral Malformations Due to
Hui Wang, Shengli Li, Qiong Zhen, Huaxuan Wen, Bingguang Liu, Liyuan Chen, Yang Liu, Caiqun Luo, Xiaoxia Wu   +8 more
wiley   +1 more source

Estudio de embarazo prolongado con excreción urinaria de estriol y amniocentesis

, 1978
José María Fuentes Ojeda, Hugo Buriticá Ruíz, Roberto Jaramillo Uricochea   +2 more
openalex   +2 more sources

Does local anesthesia at mid-trimester amniocentesis decrease pain experience? A randomized trial in 220 patients [PDF]

, 2000
Dominique Van Schoubroeck, Johan Verhaeghe   +1 more
openalex   +1 more source

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

Prenatal Diagnosis, Volume 45, Issue 9, Page 1089-1099, August 2025.
ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Anouk Moens, Zoe Albersnagel, Marieke B. Veenhof, Phebe N. Adama van Scheltema, Esther Sikkel, Mariëtte J. V. Hoffer, Brigitte H. W. Faas, Dineke Westra, Ilse Feenstra, Emilia K. Bijlsma, Gijs W. E. Santen, Corrie E. Erasmus, Cacha M. P. C. D. Peeters‐Scholte   +12 more
wiley   +1 more source

Total pregnancy loss after chorionic villus sampling and amniocentesis: a cohort study

Ultrasound in Obstetrics and Gynecology, 2017
Suzanne Phelan, T. Hagobian, Anna Brannen, Karen E. Hatley, A. Schaffner, Karen Muñoz-Christian, Deborah F. Tate   +6 more
semanticscholar   +1 more source

Intra-Uterine Fetal DemiseCaused by Amniotic Band Syndromeafter Standard Amniocentesis [PDF]

, 2000
A. Strauß, Uwe Hasbargen, Bettina W. Paek, Ingo Bauerfeind, H. Hepp   +4 more
openalex   +1 more source