Results 41 to 50 of about 30,665 (241)

Analysis of the results of amniocentesis performed at the University clinical centre of the Republic of Srpska [PDF]

Scripta Medica, 2017
Introduction: Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations.
Marić Nina, Petrović-Tepić Snežana, Predojević-Samardžić Jelica, Ljuboja Olivera   +3 more
doaj  

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

Epilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer‐Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian, Christine Haberler, Nicole Amberg   +16 more
wiley   +1 more source

Does chorionic villus sampling increase the risk of preeclampsia or gestational hypertension?

International Journal of Preventive Medicine, 2019
Background: Chorionic villus sampling (CVS) and amniocentesis are two methods for prenatal diagnosis. The goal of this study was to compare amniocentesis and CVS-related complications in a large sample of Iranian women.
Mahboobeh Shirazi, Maryam Rabiei, Fatemeh Rahimi, Shirin Niroomanesh, Fateme Golshahi, Mitra Eftekhar Yazdi   +5 more
doaj   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

Cytomegalovirus-Specific Hyperimmune Immunoglobulin Administration for Secondary Prevention after First-Trimester Maternal Primary Infection: A 13-Year Single-Center Cohort Study

Viruses
Primary cytomegalovirus infection during pregnancy has a high risk of vertical transmission, with severe fetal sequelae mainly associated with first-trimester infections.
Emmanouil Karofylakis, Konstantinos Thomas, Dimitra Kavatha, Lamprini Galani, Sotirios Tsiodras, Helen Giamarellou, Vassiliki Papaevangelou, Anastasia Antoniadou   +7 more
doaj   +1 more source

Previable PROM in twins: A systematic review and meta‐analysis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background Previable prelabor rupture of membranes (PROM) in twin pregnancies is a rare but high‐risk condition associated with substantial neonatal mortality and maternal morbidity. Management options include expectant management and selective reduction, though guidance is limited and based primarily on singleton data.
Marwan Odeh, Maya Frank Wolf, Forsan Kenaan, Raneen Sawaid Kaiyal, Ala Aiob, Lior Lowenstein, Inshirah Sgayer   +6 more
wiley   +1 more source

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

American Journal of Perinatology Reports, 2020
Background Advances in genetic screening can identify patients at high risk for common genetic conditions early in pregnancy and can facilitate early diagnosis and early abortion. Less common abnormalities might only be diagnosed with invasive testing is
Tracy B. Grossman, Stephen T. Chasen
doaj   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
Chih-Ping Chen, Ming-Chao Huang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Tzu-Yun Chuang, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

Construction and Evaluation of a Ballistic Gelatin‐Based Simulator for Transcervical Chorionic Villus Sampling

Journal of Ultrasound in Medicine, EarlyView.
Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F Nitsche, S Delaney, Peter Napolitano, Brian C Brost   +3 more
wiley   +1 more source