Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Inverse and Proportional trans Modulation of Gene Expression in Human Aneuploidies [PDF]
, 2023 Shuai Zhang +4 more
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Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart +6 more
wiley +1 more source
MIWI prevents aneuploidy during meiosis by cleaving excess satellite RNA
, 2020 Chia‐Ling Hsieh, Jing Xia, Haifan Lin
openalex +2 more sources
Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich +8 more
wiley +1 more source
EP13.24: Maternal and fetal findings and Doppler indices in false high‐risk first trimester aneuploidy screening [PDF]
, 2023 Parsia Shirzadi +2 more
openalex +1 more source
Prenatal detection and outcome of major heart defects in a country with universal screening
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel +15 more
wiley +1 more source
Aneuploidy effects on human gene expression across three cell types [PDF]
, 2023 Siyuan Liu +12 more
openalex +1 more source
Selection forces underlying aneuploidy patterns in cancer
Molecular & Cellular OncologyAneuploidy, the presence of an aberrant number of chromosomes, has been associated with tumorigenesis for over a century. More recently, advances in karyotyping techniques have revealed its high prevalence in cancer: About 90% of solid tumors and 50–70 ...
Tamara C. Klockner +1 more
doaj +1 more source
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To investigate whether combining abnormal morphological features observed on ultrasound in live pregnancies that ended in a first‐trimester miscarriage can predict an abnormal karyotype. Methods This retrospective observational cohort study was conducted at the early‐pregnancy assessment unit at University College London Hospital ...
T. Setty +5 more
wiley +1 more source