Results 61 to 70 of about 9,097 (228)

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case Report: A 38-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Chien-Ling Chiu, Wayseen Wang   +6 more
doaj   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Prenatal diagnosis of trisomy 21 mosaicism

Molecular and experimental biology in medicine, 2018
Aim: To summarize the experience of prenatal diagnosis of trisomy 21 mosaicism. Methods: A retrospective study which includes seven prenatally detected cases of mosaic trisomy 21, routinely diagnosed among 5837 prenatal investigations performed during a 13-year period (2003-2015) in a single tertiary center. Results: Mosaic trisomy 21 was detected in 0.
Stipoljev, Feodora, Lasan-Trcic Ruzica, Vicic, Ana   +2 more
openaire   +3 more sources

The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse

Animals, 2022
We present cytogenetic and genotyping analysis of a Thoroughbred foal with congenital neurologic disorders and its phenotypically normal dam. We show that the foal has non-mosaic trisomy for chromosome 26 (ECA26) but normal 2n = 64 diploid number because
Sharmila Ghosh, Josefina Kjöllerström, Laurie Metcalfe, Stephen Reed, Rytis Juras, Terje Raudsepp   +5 more
doaj   +1 more source

Perfil de desarrollo evolutivo de un bebé con una cromosomopatía infrecuente en nacidos vivos [PDF]

, 2014
La trisomía 22 en nacidos vivos se clasifica dentro de las denominadas enfermedades raras o poco frecuentes. Se evalúa el perfil evolutivo de dos niñas (trisomía 22 y trisomía 21), antes y después de la aplicación de un tratamiento de atención temprana.
Robles Bello, María Auxiliadora, Romero Prado, Ana Belén, Sánchez Teruel, David   +2 more
core  

Discrepancy in menstrual and ultrasound‐based gestational age is associated with chromosomal aberrations and adverse pregnancy outcomes—Results from a nationwide cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
A smaller than expected crown–rump length (CRL) relative to last menstrual period was strongly associated with increased risk of chromosomal abnormalities, adverse pregnancy outcomes, and obstetric complications. Conversely, a larger than expected CRL was associated with a reduced risk of these outcomes.
Simone Hansen, Olav Bjørn Petersen, Ida Vogel, Nina Gros Pedersen, Lars Henning Pedersen, Steffen Ernesto Kristensen, Karin Sundberg, Emilie Thorup, Cathrine Vedel, Kasper Gadsbøll   +9 more
wiley   +1 more source

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang   +4 more
doaj   +1 more source

Influence of advanced age of maternal grandmothers on Down syndrome

BMC Medical Genetics, 2006
Background Down syndrome (DS) is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%), mosaic trisomy 21 (2–4%) and translocation (3–4%).
Ramachandra Nallur B, Malini Suttur S
doaj   +1 more source

Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate

Molecular Cytogenetics, 2022
Background Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported.
Christina Mendiola, Veronica Ortega, Allison Britt, Rafael Fonseca, Gopalrao Velagaleti   +4 more
doaj   +1 more source