Results 91 to 100 of about 2,775 (179)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

[Polyhydramnios and its relationship with congenital malformations: ultrasonographic diagnosis]

, 1995
We analyzed the occurrence of polyhydramnios during pregnancy and to indicate the association with congenital abnormalities of the product and maternal alterations.
Fajardo Duenas S, Gaxiola Castro R, Castellanos Gonzalez JA, Gaona Flores R, Gamboa R   +4 more
core   +1 more source

Early‐ vs. late‐onset gestational diabetes: Differential impact on maternal and neonatal outcomes

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 2012-2022, October 2026.
Early‐onset gestational diabetes mellitus (diagnosed before 20 weeks) identifies a clinically higher‐risk phenotype than late‐onset GDM (24–28 weeks), with greater insulin requirement and higher adjusted risks of preeclampsia, cesarean delivery, preterm birth, and adverse neonatal outcomes.
Baolai Li, Wenjun Ji, Rui Zhao, Jinchun Zhang   +3 more
wiley   +1 more source

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Giant Fetal Sacrococcygeal Teratoma: Prenatal Detection, Monitoring, and Postnatal Management—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Sacrococcygeal teratoma (SCT) is a rare congenital tumor arising from pluripotent cells at the base of the coccyx and is most often detected during antenatal imaging. In this case, a massive SCT was identified at 26 + 2 weeks during routine ultrasound.
Tandin Om, Chimi Lhaky Zam, Karma Sherub, Phurb Dorji   +3 more
wiley   +1 more source

Floyd Type II Congenital Tracheal Agenesis in a Preterm Neonate: A Rare Case Report [PDF]

Indian Journal of Neonatal Medicine and Research
Tracheal agenesis is a rare and life-threatening airway malformation, and currently, there is no curative treatment available. The described case involves a preterm male newborn at 30 weeks of gestational age who could not be intubated during ...
Shikha Khandelwal, Priya Singh, Rama Anand, Ajay Dudeja, Varinder Singh   +4 more
doaj   +1 more source

Maternal influenza vaccination during pregnancy and risk of autism spectrum disorder in the offspring

JCPP Advances, Volume 6, Issue 3, September 2026.
Abstract Background Vaccination has been proposed as a potential risk factor for autism spectrum disorder (ASD), contributing to public hesitancy and mistrust toward immunization. Influenza vaccination during pregnancy is considered safe and effective in preventing serious maternal complications and adverse birth outcomes associated with influenza ...
Shahar Neeman, Maor Hemo, Gal Meiri, Dorit Shmueli, Idan Menashe   +4 more
wiley   +1 more source

Predictive value of OGTT parameters and clinical markers in gestational diabetes mellitus: a prospective randomized controlled trial from a tertiary center in Türkiye

Frontiers in Endocrinology
BackgroundGestational diabetes mellitus (GDM) remains a major obstetric concern, yet the optimal screening strategy and the prognostic value of oral glucose tolerance test (OGTT) parameters remain debated.
Batuhan Turgay, Uğurcan Zorlu, Harun Kılıçkıran, Kayra Turgay, Gülşah Aynaoğlu Yıldız, Elif Gül Yapar Eyi, A. Seval Ozgu-Erdinc   +6 more
doaj   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source