RESUMO
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders. The optimal method for incorporating cfDNA screening into existing programs continues to be debated. It is important that obstetricians understand the biological foundations and limitations of this technology and provide patients with up-to-date information regarding cfDNA screening.
Assuntos
Transtornos Cromossômicos/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/história , Diagnóstico Pré-Natal/história , Aneuploidia , Transtornos Cromossômicos/embriologia , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/história , DNA/sangue , DNA/química , Análise Mutacional de DNA/tendências , Feminino , Aconselhamento Genético/história , Aconselhamento Genético/tendências , Doenças Genéticas Inatas/embriologia , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/história , Testes Genéticos/métodos , Testes Genéticos/tendências , História do Século XX , História do Século XXI , Humanos , Masculino , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/tendênciasRESUMO
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome 12p, most characteristically a marker isochromosome 12p that demonstrates tissue-limited mosaicism. The cytogenetic diagnosis of PKS is often cumbersome due to the absence of the isochromosome in lymphocytes requiring sampling of other tissues. The mechanism by which the isochromosome 12p results in the constellation of multiple congenital anomalies remains largely unknown. In this review, we summarize the background of, and recent advances in, the clinical and molecular understanding of PKS.
Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Aberrações Cromossômicas , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/história , Cromossomos Humanos Par 12/genética , Aconselhamento Genético , História do Século XX , História do Século XXI , Humanos , Incidência , FenótipoRESUMO
This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.
Assuntos
Anormalidades Múltiplas/história , Nanismo/história , Microcefalia/história , Osteocondrodisplasias/história , Criança , Transtornos Cromossômicos/história , Feminino , História do Século XIX , Humanos , SíndromeRESUMO
The aim of this study is to present a short biography of some important physicians and describe the most prominent differences between trisomy 13, 18 and 21. The authors present the most prominent differences between trisomy 13, 18 and 21. The work of many important physicians, geneticists, has helped in the process of recognition of congenital anomalies. This group of famous persons includes Patau, Edwards and Down.