Results 11 to 20 of about 4,187,133 (314)
Congenital heart disease, prenatal diagnosis and management.
Archivos Argentinos de Pediatria, 2020 Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, longterm morbidity and mortality.
C. Meller +6 more
semanticscholar +1 more source
Impacts of prenatal diagnosis of congenital heart diseases on outcomes
Translational Pediatrics, 2020 Prenatal diagnosis of congenital heart diseases (CHD) is increasingly performed in developed countries. Still, the current impacts of prenatal diagnosis on fetal and neonatal outcomes remains unclear or contradictory.
D. Bonnet
semanticscholar +1 more source
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y
Molecular Cytogenetics, 2022 Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular ...
Yiqun He +5 more
doaj +1 more source
American Journal of Perinatology Reports, 2022 AbstractArhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support with creation of an artificial airway.
Zemtsov, Gregory E +2 more
openaire +3 more sources
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Molecular Cytogenetics, 2020 Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi +6 more
doaj +1 more source
Journal of Diabetes Research, 2021 Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando +9 more
doaj +1 more source
Third trimester ultrasound. A long-standing debate
Taiwanese Journal of Obstetrics & Gynecology, 2021 Third trimester ultrasound has long been in obstetrics a topic of debate. This issue is framed in a historical debate on the effectiveness of routine obstetrical ultrasound and two opposing trends originated in America and Europe, respectively.
Álvaro López Soto +3 more
doaj +1 more source
Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies
Molecular Cytogenetics, 2018 Background Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little ...
Jiexia Yang +9 more
doaj +1 more source
Molecular Cytogenetics, 2021 Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang +5 more
doaj +1 more source