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
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.
Subject(s)
Humans , Infant, Newborn , Apgar Score , Infant, Premature/physiology , Asphyxia Neonatorum/diagnosis , Clinical Protocols/standards , Sensitivity and Specificity , Predictive Value of TestsSubject(s)
Diabetes Mellitus, Type 2/metabolism , Glycated Hemoglobin/metabolism , Glycine/pharmacology , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle AgedABSTRACT
We studied 36 patients with Hellp syndrome and her newborn during seven years in the National Institute of Perinatology (INPer). The objective of this study is show the epidemiology and clinic features, unite diagnostic criteria and classification, furthermore establish morbidity and mortality maternal and perinatal. The 44.6% (16/36) was type I, and 55.6% (20) was type II. The average of pregnancies was 3. The 38.9% (14/36) received regular prenatal control. Both types were more common in patients with preterm pregnancies, between 28-36 weeks. The patients with severe preeclampsia and eclampsia were more common. The cases with type I had more complications and stayed on hospital more time. The maternal mortality was 5.55%. Perinatal outcomes were unsatisfactory, with high incidence of asphyxiated newborn. The newborn of patients with type I had more severe complications and stayed more time on the hospital. The perinatal mortality was 32.43%.
