Results 61 to 70 of about 4,949 (165)

Parental behaviors supporting child development in mothers of children with sex chromosome trisomies

Infant Mental Health Journal: Infancy and Early Childhood, Volume 47, Issue 4, July 2026.
Abstract Sex chromosome trisomies (SCTs) are genetic conditions caused by the presence of an additional sex chromosome. While recent studies have focused on analyzing the early competencies of children with SCTs, relatively few have investigated aspects of parent‐child interaction.
Laura Cordolcini, Beatrice Riva, Paola Zanchi, Domenica Mastromattei, Paola Francesca Ajmone, Maria Antonella Costantino, Laura Zampini   +6 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Interdisciplinary management of a viable term abdominal ectopic pregnancy

Pregnancy, Volume 2, Issue 4, July 2026.
Abstract Introduction Abdominal ectopic pregnancies are rare and associated with increased maternal morbidity and mortality. As the majority are diagnosed early in gestation, there are few reports of management of advanced abdominal ectopic pregnancies. Case A 41‐year‐old gravida 2 para 1 presented with fatigue and a known left ovarian cyst.
Sarena Hayer, Natasha Q. McGlaun, Katerina A. Furman, Michael R. Manuel, Gouri B. Sadananda, Daniel Manzoor, Swati Bhardwaj, Tanu Patel, Sara Dayanim, John A. Ozimek   +9 more
wiley   +1 more source

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Gynecology Obstetrics & Reproductive Medicine, 2008
OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç   +5 more
doaj  

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

Frontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek, Jakub Staniczek, Jakub Staniczek, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Krzysztof Sodowski, Agata Włoch, Agata Włoch, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Rafał Stojko, Agnieszka Drosdzol-Cop, Agnieszka Drosdzol-Cop   +24 more
doaj   +1 more source

Society for Maternal‐Fetal Medicine Statement: Evaluation and management of cell‐free DNA screening for fetal red cell antigen genotype in alloimmunized and non‐alloimmunized pregnancies

Pregnancy, Volume 2, Issue 4, July 2026.
Abstract A substantial portion of RhD‐negative pregnant patients carry an RhD‐negative fetus and are not at risk of RhD alloimmunization. Knowing the fetal RhD genotype allows such patients to avoid unnecessary monitoring or treatment. The use of cell‐free DNA (cfDNA) to detect the fetal RhD genotype from maternal blood has been proposed to identify ...
Society for Maternal‐Fetal Medicine (SMFM), Britton D. Rink, Jeffrey A. Kuller, Teresa N. Sparks, Malavika Prabhu, Anne H. Mardy, Lorraine Dugoff, Joseph R. Biggio, SMFM Publications Committee   +8 more
wiley   +1 more source

Pregnancy Outcome of Chorionic Villus Sampling on 260 Couples with Beta- Thalassemia Trait in North of Iran [PDF]

Acta Medica Iranica, 2010
"nChorionic villus sampling (CVS) is a new method and its true risk of fetal loss and complications is not still clearly determined. The objective of this study was to review the clinical pregnancy outcome of transabdominal CVS (TA-CVS) performed on
Nesa Asnafi, Haleh Akhavan Niaki
doaj   +2 more sources

Risk of Placental Pathology Across Ultrasound‐Defined Phenotypes of Impaired Fetal Growth in Dichorionic Twins: A Retrospective Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 8, Page 1616-1628, July 2026.
ABSTRACT Objective To determine the risk of placental dysfunction associated with different ultrasound‐based phenotypes of impaired fetal growth in dichorionic twin pregnancies. Design Retrospective cohort study. Setting Single tertiary centre. Population Patients with dichorionic twin pregnancies delivered at ≥ 320/7 (2011–2023) (N = 753).
Ala Essalah, John Kingdom, Liran Hiersch, Jon Barrett, Megan Watson, Nir Melamed   +5 more
wiley   +1 more source

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

Diagnostics
Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality.
Abdullatif Bakır, Mustafa Tarık Alay, Umut Can Tekbaş, Sadun Sucu, İrem Kalay, Hanife Saat   +5 more
doaj   +1 more source

Effect of invasive tests during pregnancy on perinatal transmission of hepatitis B infection: a scoping review

EClinicalMedicine
Summary: Prenatal and intrapartum invasive tests are possible mechanisms of mother to child transmission (MTCT) of hepatitis B virus (HBV). The viral activity can affect the MTCT risk after invasive tests, but the evidence is scarce.
Ka Wang Cheung, Tiffany Sin-Tung Au, Ying Rong Li, Zhenyan Han, Zhu Zhang, Mimi Tin Yan Seto   +5 more
doaj   +1 more source