ABSTRACT
BACKGROUND: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. AIM: To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS AND METHODS: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. RESULTS: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3 per cent). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1 per cent died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. CONCLUSIONS: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.
Subject(s)
Humans , Male , Female , Infant, Newborn , Congenital Abnormalities , Chromosome Aberrations/statistics & numerical data , Congenital Abnormalities , Chile/epidemiology , Case-Control Studies , Risk Factors , Prevalence , Down Syndrome/epidemiology , Down Syndrome/genetics , Turner Syndrome/epidemiology , Turner Syndrome/genetics , TrisomyABSTRACT
An heterogeneous group of newborns with different gestational ages, birth weight, nutritional status and different risks of morbidity and mortality are classified as premature. Therefore the definition of premature children subgroups is mandatory. Very low weight premature babies are those with a birth weight of less than 1500 g. In Chile, they correspond to 0.9 per cent of newborns and they contribute to neonatal mortality with 50 to 70 per cent and to infantile mortality, with 25 to 30 per cent. Survival of extremely premature babies has improved significantly in the last decades, due to a better perinatal care, the appearance of neonatal intensive care units, the routine use of mechanical ventilation, the perinatal use of steroids and the introduction of exogenous surfactant. However, survival varies considerably according to the place of birth, birth weight and gestational age and may be associated with different degrees of physical and mental disability. The imminent birth of a child in the limit of viability will require complex and difficult ethical decisions. There is consensus that the limit of viability is 23 weeks and that it fluctuates between 24 and 26 weeks in different parts of the world.
Subject(s)
Humans , Infant, Newborn , Infant Mortality , Infant, Low Birth Weight , Gestational Age , Prognosis , Portrait , Survival RateABSTRACT
In 1952, Virginia Apgar MD, proposed to assess the clinical condition of newborns, during the first minutes of life and to evaluate anesthetic and obstetrical practices. She proposed five objectives and easily measured clinical signs: cardiac frequency, respiratory effort, muscle tone, irritability and color. The test was later named Apgar Score Test. Since then, all newborns are evaluated using Apgar score. This article reviews the uses and abuses of Apgar test. It has been used to assess asphyxia, predict neurological damage, to identify newborns that require reanimation and as a survival predictor. It is concluded that Apgar score is useful to know the vitality of a newborn during his first minutes of life. It is a background, that along with acid base state and evolution, allows the diagnosis of asphyxia and predicts survival. Therefore, after half a century of use, it still remains useful.