RESUMO
24 cases of non-immune feto-placental hydrops which were diagnosed by ultrasonography are presented. The precise etiology was possible in 21 of the cases using chromosome analyses, radiological assessments and carefully conducted post mortem examinations. The cause was maternal in 3 cases and due to fetal pathology in 18 cases, of which 5 were due to chromosome abnormalities. Three recessive autosomal syndrome, 9 malformations and in particular cardiac malformations and one twin pregnancy with transfusion from one fetus to the other were diagnosed. These features, which can be compared with those already in the literature, show that most of these cases of hydrops are due to genetic fetal defects and demonstrate how important it is to carry out chromosome analyses and systematic anatomo-pathological investigations. The results of these tests will indicate the way the doctors should look after the mother during pregnancy and how to deliver these mothers in subsequent pregnancies.
Assuntos
Edema/diagnóstico , Doenças Fetais/diagnóstico , Ultrassonografia , Adolescente , Adulto , Edema/etiologia , Feminino , Morte Fetal/etiologia , Humanos , Gravidez , PrognósticoAssuntos
Encéfalo/anormalidades , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal/métodos , UltrassonografiaRESUMO
Ten thousand children born consecutively in a university hospital were surveyed for the presence of major congenital malformations. About 2% (174) had a major congenital defect. Seventy-eight percent (135 of 174) of these malformations are associated with increased recurrence risk (greater than 1%), and 9% carry a high recurrence risk (greater than or equal to 10%). On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 45% (79 of 174) of the mothers, especially inasmuch as 40% were primiparae younger than 36 years.
Assuntos
Anormalidades Congênitas/epidemiologia , Aconselhamento Genético , Diagnóstico Pré-Natal , Bélgica , Aberrações Cromossômicas/epidemiologia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Anormalidades Congênitas/genética , Feminino , Humanos , Recém-Nascido , Gravidez , RiscoRESUMO
Since the very start of using ultrasound to monitor pregnancy the information that the obstetrician has obtained from it has been great. Measuring the fetus (biparietal diameters, rump-crown length etc.) makes it possible to check development of the fetus in the uterus, as well as seeing the various organs and their placing and internal structure. Real time pictures make it possible to visualise the organs precisely from the point of view of their positioning and their internal structures. We report 12 cases of malformations of the central nervous system which were diagnosed in utero and we point out the value of early diagnosis in pregnancy. The 12 cases we found included four of hydrocephaly, one cyst of the choroid plexus, one hydrencephaly , two cases of holoprocencephaly and four cases of anencephaly. Since these malformations may be part of generalised malformations it is important to search for these others by ultrasound as well as by caryotyping and estimation of alpha-fetoprotein levels.
Assuntos
Encéfalo/anormalidades , Defeitos do Tubo Neural/diagnóstico , Diagnóstico Pré-Natal , Ultrassonografia , Anormalidades Múltiplas/diagnóstico , Adulto , Anencefalia/diagnóstico , Feminino , HumanosAssuntos
Anormalidades Induzidas por Medicamentos/diagnóstico , Ectromelia/genética , Cardiopatias Congênitas/diagnóstico , Talidomida/efeitos adversos , Adulto , Diagnóstico Diferencial , Ectromelia/induzido quimicamente , Feminino , Aconselhamento Genético , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Linhagem , Fenótipo , Gravidez , SíndromeAssuntos
Anormalidades Congênitas/epidemiologia , Aconselhamento Genético , Diagnóstico Pré-Natal , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adulto , Bélgica , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Feminino , Humanos , Recém-Nascido , Gravidez , Fatores SocioeconômicosAssuntos
Hipotireoidismo Congênito , Feminino , Seguimentos , Humanos , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/fisiopatologia , Recém-Nascido , Doenças do Prematuro/fisiopatologia , Masculino , Remissão Espontânea , Glândula Tireoide/fisiopatologia , Tiroxina/uso terapêutico , Fatores de Tempo , Tri-Iodotironina/uso terapêuticoRESUMO
Amniofetography is a valuable tool for the diagnosis of fetal malformations. We have studied the effect of radiopaques dyes, containing large amounts of iodide, on fetal thyroid function. We have performed serial determinations of serum thyrotropin and thyroxine in seven newborn infants submitted to amniofetography. This work demonstrates that amniofetography induces a transient impairment of fetal thyroid function.
Assuntos
Meios de Contraste/efeitos adversos , Doenças Fetais/diagnóstico por imagem , Feto/efeitos dos fármacos , Glândula Tireoide/efeitos dos fármacos , Feminino , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Gravidez , RadiografiaAssuntos
Morte Fetal/etiologia , Mortalidade Infantil , Doenças do Recém-Nascido/etiologia , Gravidez em Diabéticas/complicações , Adolescente , Adulto , Feminino , Humanos , Recém-Nascido , Insulina/uso terapêutico , Gravidez , Gravidez em Diabéticas/tratamento farmacológico , Estudos RetrospectivosRESUMO
In 327 newborns cord blood thyroxine (T4) was 11.8 +/- 0.4 mug/100 ml (SEM) (151.9 +/- 5.1 nmol/l), and serum thyrotrophin (TSH) 6.7+/-1.0 muU/ml. Variability was marked for both T4 and TSH. Remeasured in the same patients on the fifth day of life, the TSH level was 3.7 +/- 1.0 muU/ml, lower than at birth (P less than 0.001), while scattering of TSH values was much smaller, with 99.4 % of values less than 12 muU/ml...
Assuntos
Hipotireoidismo Congênito , Tireotropina/sangue , Feminino , Sangue Fetal/análise , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/diagnóstico , Lactente , Recém-Nascido , Masculino , Tiroxina/sangueRESUMO
Amniofetography is a valuable tool for the diagnosis of fetal malformations. This technique is being used routinely in pregnancies carrying a high risk of external fetal malformations. There are very few published data concerning the effect of radiopaque dyes, containing large amounts of iodide, on fetal thyroid function. We have performed serial determinations of serum thyrotropin and thyroxine in seven newborn infants to assess the effect of amniofetogrpahy on fetal thyroid function. This work demonstrates that amniofetography induces a transient impairment of fetal thyroid function.