Search Results - "Brabbing‐Goldstein, D."
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Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies
Published in Ultrasound in obstetrics & gynecology (01-07-2022)“…ABSTRACT Objective Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield…”
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Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype
Published in Ultrasound in obstetrics & gynecology (01-03-2024)“…ABSTRACT Objective Mitochondrial complex‐I deficiency, nuclear type 16, is a rare autosomal recessive disorder caused by biallelic pathogenic variants in…”
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Clinical utility of expanded non‐invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly
Published in Ultrasound in obstetrics & gynecology (01-06-2023)“…ABSTRACT Objectives To evaluate the theoretical added value of two types of non‐invasive prenatal screening (NIPS) expansions in pregnancies without major…”
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Prenatal gender-customized head circumference nomograms result in reclassification of microcephaly and macrocephalyAJOG Global Reports at a Glance
Published in AJOG global reports (01-02-2023)“…BACKGROUND: Local and worldwide prenatal charts for estimated fetal weight and postnatal charts for head circumference are gender specific. However, prenatal…”
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Journal Article