Prenatal diagnosis
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Clinical Trial
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children.
The aim of this study was to compare the diagnostic accuracy of postmortem magnetic resonance (PMMR) imaging specifically for musculoskeletal pathology in fetuses and children, compared with conventional autopsy, with radiographic and histopathology assessment. ⋯ Minimally invasive autopsy has good diagnostic accuracy for the exclusion of MSK abnormalities, but sensitivity is relatively poor. When PMMR is used with clinical examination and skeletal radiographs, all skeletal and soft tissue abnormalities of clinical significance are likely to be detected, even if not directly relevant to the cause of death.
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Because we have previously demonstrated the relation between polyphenol-rich foods (PRF) consumption and ductus arteriosus constriction, in this work, pregnant sheep were submitted to oral PRF intake for 14 days to understand how this process occurs. Fetal Doppler echocardiography, oxidative and inflammatory biomarkers and total polyphenol excretion were evaluated. ⋯ Our results highlight the need to reduce maternal PRF intake in late pregnancy to prevent fetal duct constriction through NO-mediated vasoconstrictive action of polyphenols.
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In pediatrics, anogenital distance (AGD) serves as a bioassay of normal phenotypic androgen action on the external genitalia. Recently, hypospadias and cryptorchidism were reported to be associated with reduced AGD. No normal reference ranges exist for fetuses throughout gestation. This study defines the normal centile chart of the AGD, in male and female fetuses, between 20 and 35 weeks of gestation. ⋯ AGD measurement in utero is feasible. These measurements assess the normality of the perineal region and may assist in the detection of genital anomalies.
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Comparative Study
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.
The recently developed noninvasive prenatal test (NIPT) presents a new era of prenatal screening. Previously reported studies were primarily conducted on high-risk and advanced maternal age (AMA) pregnancies. We sought to evaluate the performance of NIPT for detection of fetal aneuploidies in a Chinese cohort of women younger than 35 years old in a prospective clinical setting. ⋯ Noninvasive prenatal detection of common fetal aneuploidies is a more sensitive and specific method than triple maternal serum screening. It has a remarkable low false positive rate and is applicable to women younger than 35 years old.