Results 31 to 40 of about 5,907 (232)

The Relationship Between First-Trimester Aneuploidy Markers and Birth Weight

Gynecology Obstetrics & Reproductive Medicine, 2021
OBJECTIVE: We aimed to determine the relationship between the first-trimester aneuploidy screeningma and the predicted weight at birth: Small for gestational age and large for gestational age.
Cenk Soysal, Hatice Sari, Ozlem Erten, Ismail Biyik, Onur Ince, Yasemin Tasci, Nadi Keskin   +6 more
doaj   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

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

Do the Levels of Maternal Plasma Trace Elements Affect Fetal Nuchal Translucency Thickness? [PDF]

PLoS ONE, 2015
OBJECTIVE:Fetal nuchal translucency (NT) thickness is an important marker for prenatal screening; however, studies focusing on the correlation between maternal trace element levels and NT thickness are limited.
Kai-Wei Liao, Ming-Song Tsai, Chia-Huang Chang, Ling-Chu Chien, I-Fang Mao, Yen-An Tsai, Mei-Lien Chen   +6 more
doaj   +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

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

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

What is fetal nuchal translucency?

BMJ, 1999
In the fetus fluid collects behind the neck, much like it does in dependent ankle oedema in later life. This occurs partly because of the fetus's tendency to lie on its back and partly because of the laxity of the skin of the neck. As with ankle oedema this accumulation of fluid can represent the end point of several pathological processes, including ...
openaire   +4 more sources

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