Publications by authors named "S Galjaard"
Objective: This study explored prenatal ultrasound markers in patients with anorectal malformations (ARMs).
Methods: All patients treated for ARM in our institution from January 2014 to December 2021 with an available expert fetal anomaly scan (eFAS) were reviewed. The eFAS images were assessed to evaluate the fetal anus, specifically by identifying hyperechoic anal mucosa surrounded by hypoechoic anal sphincter, referred to as "target sign" (TS).
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.
Prenat Diagn
November 2024
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.
Methods: We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019-2022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and/or intellectual disability were analyzed.
Article Synopsis
- A study in the Netherlands evaluated the effectiveness of first-trimester anomaly scans to detect fetal structural defects in pregnant women as part of a nationwide prenatal screening program from November 2021 to November 2022.
- The study found that 74.9% of eligible women opted for the scan, and among those, 1.0% were flagged for potential anomalies while 54.9% of those cases were confirmed with abnormal findings in follow-up scans.
- The results highlighted the types of anomalies identified, including 332 structural and 117 genetic anomalies, indicating the scan's usefulness for early decision-making regarding reproductive options.
Background: Bariatric surgery is increasingly performed in women of reproductive age. As bariatric surgery will result in postoperative rapid catabolic weight loss which potentially leads to fetal malnutrition and directly related impaired intra-uterine growth, it is advised to postpone pregnancy for at least 12-18 months after surgery.
Objectives: To investigate the consequences of preconception gastric bypass surgery (pGB) on fetal growth parameters and maternal pregnancy outcome.
Vitamin D deficiency is a common finding in overweight/obese pregnant women and is associated with increased risk for adverse pregnancy outcome. Both maternal vitamin D deficiency and maternal obesity contribute to metabolic derangements in pregnancy. We aimed to assess the effects of vitamin D3 supplementation in pregnancy versus placebo on maternal and fetal lipids.
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