Importância do estudo genético pré-natal / Importance of prenatal genetic diagnosis

O desenvolvimento de técnicas, como o cariótipo e ensaios enzimáticos em células fetais, a determinação de metabólitos no líquido amniótico e a ultrassonografia, propiciaram o diagnóstico pré-natal de desordens genéticas. A investigação genética pré-natal permite a detecção, ainda no útero, de doenças que, de outra forma, somente seriam diagnosticadas após o nascimento. Diversas técnicas são utilizadas para avaliação do estado fetal, algumas como a biópsia de vilos coriais, a amniocentese e a cordocentese. Com desenvolvimento tecnológico, novas técnicas moleculares foram desenvolvidas apresentando-se de forma mais refinada e de rápido resultado. A utilização dessas técnicas é fundamental para o desenvolvimento fetal, podendo então indicar uma conduta adequada para cada caso. Dessa forma, o conhecimento e a aplicação da genética clínica, utilizando o aconselhamento genético, trazem a certeza de um bom acompanhamento pré-natal necessário à assistência médica.

The development of techniques, such as karyotype and enzymatic assay in fetal cells, the determination of metabolites in amniotic liquid and the ultrasonography, allowed prenatal diagnosis of genetic disorders. The prenatal genetic investigation allowed the detection, in the womb, of diseases that, in other way, just could be diagnosed after birth. Many techniques are used to fetal state assessment, some of them such as villi cori biopsy, the amniocentesis and cordocentesis. Through the technological development, new molecular techniques were developed. They present a more refined and fast results. The use of these techniques is fundamental to fetal development, enabling the use of adequate conduct in each case. In this way, the knowledge and application of genetic clinic, using genetic counseling, bring the certainty of a good prenatal care, which is necessary to medic assistance.

Abdominal wall defect: a case report and review.

Ultrasound is well recognized imaging modality for prenatal diagnosis of fetal congenital anomalies. However, precise diagnosis of fetal anomaly with gray scale ultrasound may not be possible at times. Color Doppler ultrasound compliments gray scale ultrasound in accurately diagnosing fetal anomaly. We report a case of an omphalocele with short lower limbs, diagnosed during 3rd trimester on the basis of color Doppler ultrasound. Gray scale ultrasound failed to diagnose the condition initially. Color Doppler sonography helped in accurate diagnosis. Findings were confirmed after termination of pregnancy.

Asociación entre grupo sanguíneo Kidd y malformaciones congénitas / Association between Kidd blood group and congenital malformations

Background: Since the discovery of blood groups, an association between these genetic polymorphisms and pathological phenotypes has been searched, looking for factors involved in the pathogenesis of diseases or biological population mechanisms that maintain these polymorphisms. In previous reports, we have described some associations between erythrocytic genetic marker segregation and the presence of congenital malformations. Aim: To explore the association between Kidd blood group and congenital malformations. Patients and methods: One hundred twenty two malformed newborns and their mothers and 136 normal newborns, seen at the Clinical Hospital of the University of Chile, were studied. Results: Kidd blood group segregation distortions were found among male malformed newborns, that were not present in normal newborns. Among mothers of both groups of newborns, a paucity of heterozygous for this system was found. Conclusions: The association found between a blood group and congenital malformations, allows to state that malformed children have a different genetic background, when compared to normal children

Serum alpha feto-protein screening in high risk pregnancies.

We assayed alpha fetoprotein (AFP) in serum samples from 2,735 women during 14 to 20 weeks of gestation. Serum AFP levels were elevated in the presence of neural tube defect (NTD) and gut atresia in fetus, twin pregnancies, preterm delivery and neonatal complications. In two of the 23 cases of fetal NTD the diagnosis was suggested by AFP assays, with apparently normal ultrasound findings. Low maternal serum AFP levels were associated with chromosomal abnormalities and hydatidiform molar pregnancy. Calculation of risk for Down syndrome based on maternal serum AFP and maternal age helped to reduce the number of women requiring amniocentesis. Maternal serum AFP assay was helpful in the management of threatened abortion, suspected intrauterine death, and maternal toxoplasma infection. In seven cases where maternal serum AFP was high but ultrasound studies were normal, male babies were delivered. Thus maternal serum AFP assay proved useful in narrowing down the group of women requiring more detailed surveillance and diagnostic studies.

Grupo sanguíneo duffy en recién nacidos malformados y sus madres / Duffy blood group in malformed newborns and their mothers

The aim of this work is to analyze the distribution of Duffy blood group and the reproductive history of 148 malformed newborns and their mothers compared to 131 control pairs. The mother -child segregation of the system is analyzed using ITO matrixes. A higher frequency of heterozygote mothers for the system was found among tha malformed group compared to controls. No differences in the reproductive history was found between Duffy system homozygote or heterozygote mothers

Correlation of blood groups with congenital disorders and gastro intestinal diseases.

Blood group studies were conducted in 330 patients suffering from gastro intestinal disorders and 180 patients with congenital malformations and compared with normal subjects. Statistical analysis has shown that (a) there is significant correlation between B group and thalassaemia, (b) congenital malformations show higher incidence in B and O groups. It would be pertinent to draw attention to the fact that B group was found to be significantly correlated to duodenal ulcer from the present study contrary to the early reports. In addition, these observations show that blood groups are linked with diseases.