Results 61 to 70 of about 10,016 (193)

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

Prenatal Diagnosis, EarlyView.
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

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

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, EarlyView.
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

Transient Antenatal Bartter’s Syndrome: A Case Report

Frontiers in Pediatrics, 2018
Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to
Michelle Meyer, Margarita Berrios, Christina Lo   +2 more
doaj   +1 more source

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

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
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

Amniotic Fluid Volume Assessment: Eight Lessons Learned

International Journal of Women's Health, 2021
Everett F Magann,1 Julie R Whittington,1 John C Morrison2 ,† Suneet P Chauhan3 1Departments of Obstetrics and Gynecology of the University of Arkansas for the Medical Sciences, Little Rock, AR, USA; 2Department of Obstetrics and Gynecology of the ...
Magann EF, Whittington JR, Morrison JC, Chauhan SP   +3 more
doaj  

Three Methods of Fetal Weight Estimation Compared in Women With BMI ≥ 35 kg/m2 at Term—A Prospective Observational Study

Birth, EarlyView.
Visual summary of a prospective study comparing sonographic, maternal, and clinical fetal‐weight estimation methods in women with BMI = 35 kg/m2 at term. The graphical abstract presents the study objective, design, accuracy measures, and the primary finding that maternal and sonographic estimations demonstrated similar accuracy and both exceeded that ...
Inshirah Sgayer, Yara N. Francis, Nadine Ashkar‐Majadla, Ruba Tuma, Lior Lowenstein, Maya Frank Wolf, Marwan Odeh   +6 more
wiley   +1 more source

A Case of BeckwithWiedemann Syndrome with Polyhydramnios

Indonesian Journal of Obstetrics and Gynecology, 2017
Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks)
Yusrawati Yusrawati, Reno Muhatiah
doaj   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Protein consumption during pregnancy and risk of gestational diabetes mellitus: Insights from a multi‐center case–control study

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims Gestational diabetes mellitus (GDM) poses major health risks for mothers and infants. Evidence on the association between dietary protein intake and GDM risk remains inconsistent. This study investigated dietary protein quantity and quality in relation to GDM.
Marzieh Zare, Elnaz Daneshzad, Hatav Tehrani, Razieh Tabaeifard, Maryam Mahmoudi, Leila Azadbakht   +5 more
wiley   +1 more source