Results 21 to 30 of about 358,184 (353)

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

open access: yesActa Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang   +12 more
doaj   +1 more source

The Dependent Coverage Provision Is Good for Mothers, Good for Children, and Good for Taxpayers [PDF]

open access: yes, 2018
Importance The effect of the Affordable Care Act (ACA) dependent coverage provision on pregnancy-related health care and health outcomes is unknown. Objective To determine whether the dependent coverage provision was associated with changes in payment
Carroll, Aaron E., Cheng, Erika R.
core   +1 more source

Identification of a familial complex chromosomal rearrangement by optical genome mapping

open access: yesMolecular Cytogenetics, 2022
Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
doaj   +1 more source

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics

open access: yesFrontiers in Cardiovascular Medicine, 2021
Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected.
Yahong Li   +15 more
doaj   +1 more source

Pregnancy with Concomitant Chorioangioma and Placental Mesenchymal Dysplasia: A Rare Placental Abnormality

open access: yesCase Reports in Obstetrics and Gynecology, 2013
Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition. Case.
Wu Qichang   +6 more
doaj   +1 more source

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

open access: yesBMC Pregnancy and Childbirth, 2023
Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis ...
Sha Lu   +8 more
doaj   +1 more source

Prenatal hospitalization and compliance with guidelines for prenatal care. [PDF]

open access: yesAmerican Journal of Public Health, 1996
OBJECTIVES: This study examined the relationship between compliance with the US Public Health Service guidelines for prenatal care and the rate of prenatal hospitalization. METHODS: For all women admitted to a Boston referral center during January and February 1993 with a pregnancy of at least 18 weeks gestation (n = 1400), a proportional hazards ...
E. F. Cook   +4 more
openaire   +4 more sources

Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

open access: yesAnnals of Medicine, 2023
Background: Copy number variants of uncertain significance (VUS) has brought much distress for patients and great counselling challenges for clinicians.
Ran Zhou   +7 more
doaj   +1 more source

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

open access: yesFrontiers in Genetics, 2022
Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin.
Guoxing Zhong   +9 more
doaj   +1 more source

Early life factors and risk of childhood rhabdomyosarcoma. [PDF]

open access: yes, 2013
Although little is known about etiology of childhood rhabdomyosarcoma (RMS), early life factors are suspected in the etiology. We explored this hypothesis using linked data from the California Cancer Registry and the California birth rolls.
Anshu eShrestha   +6 more
core   +2 more sources

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