Results 1 to 10 of about 3,876,412 (373)
Prenatal Diagnosis, 2022 We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.
Rhiannon Mellis +4 more
semanticscholar +1 more source
Prenatal Diagnosis, 2022 The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years.
I. B. Van den Veyver +4 more
semanticscholar +1 more source
Genetics Research, 2022 Objective. The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further ...
Jin Wang +9 more
doaj +1 more source
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
Molecular Cytogenetics, 2023 Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou +5 more
doaj +1 more source
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
Molecular Cytogenetics, 2020 Background The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis.
Chenyang Xu +6 more
doaj +1 more source
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
New England Journal of Medicine, 2020 BACKGROUND The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging.
T. Sparks +21 more
semanticscholar +1 more source
Sonographic measure techniques of fetal penile length [PDF]
Obstetrics & Gynecology Science, 2020 Postnatal penile length is a reliable, standardized, and widely used marker for the diagnosis of genitourinary pathology, as well as genetic and hormonal disorders.
Álvaro López Soto +5 more
doaj +1 more source
Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease
Prenatal Diagnosis, 2020 The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD).
M. D. Campbell +5 more
semanticscholar +1 more source
Molecular Cytogenetics, 2021 Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis.
Lili Zhou +5 more
doaj +1 more source
Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia.
Seminars in Perinatology, 2020 Antenatal ultrasound screening identifies more than 60% of Congenital Diaphragmatic Hernia (CDH) cases and provides the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management.
A. Cordier +3 more
semanticscholar +1 more source