Results 21 to 30 of about 4,269,423 (255)

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

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 ...
J S, Haas   +4 more
openaire   +2 more sources

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

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

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

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

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

open access: yesMolecular Genetics & Genomic Medicine, 2023
Background We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac ...
Qinxin Zhang   +8 more
doaj   +1 more source

A Qualitative Study of an Integrated Maternity, Drugs and Social Care Service for Drug-using Women [PDF]

open access: yes, 2006
Background: The care of drug-using pregnant women is a growing health and social care concern in many countries. A specialist clinic was established offering multidisciplinary care and advice to pregnant drug users in and around Aberdeen (UK) in 1997 ...
Hall, Jenny   +7 more
core   +2 more sources

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

Challenges of maternal and prenatal care in Nigeria [PDF]

open access: yes, 2019
Background and aim: Evidence in the literature indicates that maternal health care by a skilled birth attendant is one of the key strategies for maternal survival.
Matheson, David   +2 more
core   +1 more source

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