Results 41 to 50 of about 5,319 (164)

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

Twin‐To‐Twin Transfusion Syndrome in Dichorionic‐Triamniotic Triplets Successfully Managed Without Fetoscopic Laser: A Management‐Focused Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Triplet pregnancies are rare (~0.1% of births) and often complicated by prematurity. When one placental unit is monochorionic, there is a risk of twin‐to‐twin transfusion syndrome (TTTS), a severe vascular imbalance affecting monochorionic gestations.
Ammir Abuzahra, Safwat Jabari, Mohammad Rabaee, Saja Atawneh, Shaimaa Sweity, Rasmiya Qawasmi, Omar Hammam Salloum   +6 more
wiley   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, Volume 40, Issue 13, July 2026.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein

The Turkish Journal of Pediatrics, 2009
Placental chorioangioma and thrombosis of an umbilical vein varix are rare etiologic factors of non-immune hydrops fetalis. Herein, we report a patient who had hydrops fetalis associated with placental chorioangioma and thrombosis of an umbilical ...
Ercan Sivasli, Ozlem Tekşam, Mithat Haliloğlu, Safak Güçer, Diclehan Orhan, Aytemiz Gürgey, Gülsevin Tekinalp   +6 more
doaj  

The Systematic Work Up to Identify Etiology of Non-immune Hydrops Fetalis: A perspective view of pathologist

Thai Journal of Obstetrics and Gynaecology, 2020
Non-immune hydrops (NIH) is an important condition in health service. Many etiologies of NIH have been described, but the definite cause of NIH in many cases is still reported as “unknown”. This finding may be partly explained by the inadequate
Patou Tantbirojn
doaj   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Ultrasound diagnosis of hydrops fetalis in consanguineous parents

PAMJ Clinical Medicine, 2020
This is a 25-year-old patient who has been married for 1 year to a first cousin. She is nulliparous and was pregnant with a first pregnancy at 27 weeks of gestation.
Ibrahima Niang, Mamadou Ly
doaj   +1 more source

Interventions and Perinatal Outcomes Associated With Recipient Twin Cardiomyopathy in the Setting of Twin‐To‐Twin Transfusion Syndrome: A Systematic Review

Prenatal Diagnosis, Volume 46, Issue 8, Page 1159-1172, July 2026.
ABSTRACT Objective To determine (1) Whether the presence and severity of recipient twin cardiomyopathy in the setting of twin‐to‐twin transfusion syndrome are associated with worse perinatal outcomes when compared to recipient twins without evidence of cardiomyopathy and (2) The optimal management strategy to reduce the likelihood of adverse perinatal ...
Briana Tolbert, Sandhya Chandrasekaran, Vanya Manthena, Gabrielle Sudilovsky, Andrew Rausch, Ryan E. Longman, Yves Ville, Ashish Premkumar   +7 more
wiley   +1 more source

Non-immune hydrops fetalis

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Non-immune hydrops fetalis (NIHF) refers to hydrops in the absence of maternal circulating red-cell antibodies, and constitutes up to 90% of all described hydrops fetalis cases.
Murat Yurdakök
doaj   +1 more source

Prenatal and Perinatal Outcomes in Fetuses With Macrocystic Congenital Pulmonary Airway Malformations: Thoracoamniotic Shunting Versus Expectant Management

Prenatal Diagnosis, Volume 46, Issue 8, Page 1243-1250, July 2026.
ABSTRACT Objective Describe prenatal imaging characteristics, perinatal and postnatal outcomes in fetuses with isolated macrocystic congenital pulmonary airway malformations (CPAM) undergoing thoracoamniotic shunting (TAS) and expectant management. Methods Retrospective cohort study of 123 fetuses with isolated macrocystic CPAM managed at the Ontario ...
Laurence Sophie Carmant, Alexandria Kelly, SeungWoo Lee, Vesna Sokol Karadjole, Greg Ryan, Tim Van Mieghem, Prakesh S. Shah, Anna Otvodenko, Priscilla P. L. Chiu, Nimrah Abbasi   +9 more
wiley   +1 more source