Results 41 to 50 of about 1,919 (215)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker

Reproductive Biology and Endocrinology, 2010
Background A disintegrin and metalloprotease 12 (ADAM12-S) has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk ...
Guitton Marie, Sarkissian Gaïané, Wright Dave, Ball Susan, Tørring Niels, Darbouret Bruno   +5 more
doaj   +1 more source

Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects

Journal of Clinical Ultrasound, EarlyView.
First trimester fetal echocardiography has high detection rates for early diagnosis of severe congenital heart defects. Standardized first trimester fetal echocardiography may allow early diagnosis of fetuses with congenital heart defects and contribute to the appropriate management of these pregnancies.
Münip Akalın, Emine Eda Akalın, Merve Kara, Esra Esim Büyükbayrak   +3 more
wiley   +1 more source

Comment le risque devient une évidence : praticiens, femmes enceintes et dépistage prénatal de la trisomie 21

Socio-anthropologie, 2014
In France as in other industrialized countries, pregnancy is regarded as a risk period. As such, a medical surveillance on a regular basis is necessary.
Carine Vassy, Bénédicte Champenois-Rousseau   +1 more
doaj   +1 more source

Efficacy of Fetal Ear Length as a Prenatal Marker of Chromosomal Anomalies: A Prospective, Multicenter Cohort Study in a Southern European Population

Journal of Clinical Ultrasound, EarlyView.
Fetal ear length (FEL) correlates with gestational age and may help detect chromosomal anomalies. This study developed a nomogram for a Southern European population, showing high measurement reliability. While FEL ≤ 5th percentile increased anomaly risk, its moderate sensitivity and specificity limit clinical utility.
Elisabet Baldrich, Montse Comas, Alicia Maldonado, Marcos Blasco, Josep‐Maria Manresa‐Domínguez, Maria Iniguez‐Cruz, Antoni Borrell   +6 more
wiley   +1 more source

Fetal Tricuspid Annular Plane Systolic Excursion in the Surveillance of Intra‐Abdominal Umbilical Vein Varix

Journal of Ultrasound in Medicine, EarlyView.
Objective To describe the application of tricuspid annular plane systolic excursion (TAPSE) in monitoring cardiac function in cases of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods The sample consisted of all cases of FIUVV diagnosed in a tertiary medical center between 2018 and 2023 that were assessed by sonographic fetal TAPSE.
Yossi Geron, Lior Drukker, Sharon Perlman, Ran Matot, Victoria Hermann, Natav Hendin, Ron Bardin, Yinon Gilboa, Ron Charach   +8 more
wiley   +1 more source

Segmentation and nasal line counting in ultrasound fetal images at the 11-13+6 weeks of gestation

Ingeniería, 2015
This document introduces a method for nasal segmentation and the subsequent counting of lines corresponding to the skin, nasal bone and the tip of the nose in 2D fetal ultrasound images of the first gestational trimester from 11 to 13 weeks and 6 days ...
Angee Paola Ballesteros Maldonado, Laura Catalina López Alza, Rodrigo Javier Herrera Garcia   +2 more
doaj   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, EarlyView.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

The Clinical Significance of Fetal Intra‐Abdominal Umbilical Vein Varix A Comparative Study

Journal of Ultrasound in Medicine, EarlyView.
Objectives To clarify the clinical significance and optimal management of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods A retrospective study comparing composite asphyxia‐related adverse outcomes including stillbirth, cesarean delivery due to non‐reassuring fetal heart rate (CD NRFHR), Apgar <7, Cord pH <7, neonatal intensive care unit ...
Keren Zloto, Ariella Wiener, Natalie Bibar, Raanan Meyer, Abeer Massarwa, Michal Fishel Bartal, Alina Weissmann‐Brenner, Eran Kassif, Tal Weissbach   +8 more
wiley   +1 more source