Abstract
It was performed a case-control study, that included totally 187 pregnant women hospitalized in Obstetrical-Gynecology Department of Prof. Dr. Panait Sarbu Hospital, Bucharest, Romania. The selection criteria for case sample were: age over 30 years, history of malformative risk, clinical exam that emphasised malformations and ultrasound examination that suspicioned embrio-fetal morphological abnormalities. We determined the serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3), by immunoenzymometry. As statistical analysis we determined the estimated median value. For each of the three parametres, the final curve was compared with the value obtained by spectrophotometry. The study revealed the predictive value of correlated use of these three parameters, together with ultrasound examination and cytogenetic investigations, in order to early prenatal diagnosis of congenital fetal anomalies.
Highlights
The prevention and early diagnosis of genetic diseases and congenital malformations can be facilitated through prenatal screening of pregnant women facing high risk [1]
-maternal age over 35 years [2]; -couples in which one member is affected by a genetic disorder or birth defect [3]; -couples who have a child with mental retardation or malformation [4, 5]; -genetic malformations as a result of family history; -spontaneous miscarriages in early pregnancy [6 - 8]; -consanguineous couples [9]; -genitors that belong to an isolated religion, ethnic group, geographical environment [10]
Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver, encoded by the AFP gene on chromosome 4q25 [16]
Summary
The prevention and early diagnosis of genetic diseases and congenital malformations can be facilitated through prenatal screening of pregnant women facing high risk [1]. Dr Panait Sarbu Obstetrics and Gynecology Hospital, Bucharest, Romania, were selected based on age, medical history, clinical examination and ultrasound examination results. These were subject to MSS by determining the concentration of AFP, hCG and uE3, by immunoenzymometry and spectrophotometry. The selection criteria, were: -age - 30 years; -history - the high risk of malformation pregnant women were considered the women who, regardless of age, had previously malformed fetuses pregnancies, or those whose families were recorded as having had genetic malformations; -clinical examination - the presence of defects and/or genetic abnormalities; -ultrasound examinations of pregnancy - routine standard ultrasound examination and additional ultrasound examinations, performed by an expert in maternal and fetal medicine
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