To examine the performance of the routine 11–13‐week scan in detecting fetal non‐chromosomal abnormalities.
A. Syngelaki +5 more
semanticscholar +1 more source
The association between IVF and chromosomal abnormalities compared to spontaneous conception
In vitro fertilization (IVF) is a process by which an egg is extracted by needle aspiration and then combined with a sperm so that fertilization can occur outside the body. Genetic defects, such as chromosomal abnormalities, are considered rare among the
Sawsan Alharthi +5 more
doaj +1 more source
Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao +5 more
core +2 more sources
Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A. +9 more
core +1 more source
Fetuses with right aortic arch Multicentre cohort study and meta-analysis. [PDF]
OBJECTIVES: Recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnosis of right aortic arch (RAA). We aimed to establish outcome of fetal RAA without intra-cardiac abnormalities (ICA) to guide postnatal management ...
Carvalho, JS +3 more
core +1 more source
Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E. +2 more
core +3 more sources
LSD1 is essential for oocyte meiotic progression by regulating CDC25B expression in mice [PDF]
Mammalian oocytes are arrested at prophase I until puberty when hormonal signals induce the resumption of meiosis I and progression to meiosis II.
Chen, T +8 more
core +1 more source
Background Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility.
Faeza El-Dahtory +3 more
doaj +1 more source
Aneusomy of chromosomes 7 and 17 predicts the recurrence of transitional cell carcinoma of the urinary bladder [PDF]
Objective To determine if changes in chromosome 7 and 17 copy number can be used to predict recurrence in patients with primary noninvasive (pTa) or superficially invasive (pT1) transitional cell carcinoma (TCC) of the urinary bladder.
A.D. Watters +26 more
core +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources

