Unit of Molecular Diagnostics of Rare Hematological Diseases, A.O.O.R. "Villa Sofia Cervello", Palermo, Italy.
Published: November 2022
AI Article Synopsis
Article Abstract
The procedures commonly used for prenatal diagnosis (PND) of thalassemia are villocentesis or amniocentesis, respectively, at the 11th and 16th weeks of gestation. Their main limitation is essentially due to the late gestation week in which diagnosis is performed. The celomic cavity is accessible between the 7th and 9th weeks of gestation and it has been demonstrated that it contains embryonic erythroid precursor cells as a source of fetal DNA for earlier invasive PND of thalassemia and other monogenic diseases. In this study, we report the use of celomatic fluids obtained from nine women with high-risk pregnancies for Sicilian (δβ)-thalassemia [(δβ)-thal] deletion (NG_000007.3: g.64336_77738del13403) and β-thalassemia (β-thal). Fetal cells were isolated by a micromanipulator, and nested polymerase chain reaction (PCR) and short tandem repeats (STRs) analysis were performed. Prenatal diagnosis was successfully performed in all examined cases. One fetus was a compound heterozygote for (δβ)- and β-thal, three fetuses were found to be carriers of β-thal, four fetuses carriers of a Sicilian δβ deletion, and one fetus without parental mutations. Accidentally, a rare case of paternal triploidy was observed. The genotypic analysis, carried out both by amniocentesis and on abortive tissue or after birth, showed concordance with results obtained on fetal celomic DNA. Our results unequivocally show that fetal DNA can be obtained by nucleated fetal cells present in the celomatic fluid and demonstrate, for the first time, that PND of Sicilian (δβ)-thal and β-thal is feasible at an earlier time in pregnancy than other procedures.
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Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
Background: Currently, it is recommended to arrange screening for all women who are referred for prenatal care before the 20 week of gestation. Congenital and genetic diseases lead to disability and death in 3% of babies. Prenatal diagnosis is the only way to prevent the birth of babies with genetic disorders.
Introduction: Pediatric neurology provides care for children with complex developmental disorders with environmental, genetic, metabolic, and teratogenic etiologies. Common neurodevelopmental conditions include attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorder. However, only minimal attention from pediatric neurology journals has been devoted to fetal alcohol spectrum disorder.
