[Genetic counseling and prenatal care after medications during the first trimester].

Analysis of the outcome of 127 pregnancies with first trimester medication (8.4% of the total number of the patients seeking genetic advice in 1997 at the Institute of Medical Genetics in Szeged) was carried out. The gestational age at the time of the medication and genetic counselling, the indications of the treatment, the drugs, the estimated fetal risk, and results of genetic ultrasound examinations and pregnancy outcome were evaluated.

[Significance of hyper-echogenic yolk sac in first-trimester screening for chromosome aneuploidy].

Recently, the measurement of the thickness and extent of the first-trimester posterior simple embryonic hygroma by vaginal ultrasound has become the most efficient method in the antenatal screening for chromosomal aneuploidies. The sensitivity of the screening is only 75-90%, therefore, the search for other potential (sonographic) markers is needed in order to increase the efficiency. Ultrasound measurement of the echogenicity and the diameter of yolk sac and the thickness of dorso-posterior simple embryonic hygroma was carried out in 3620 first-trimester pregnancies between 9-11 weeks.

[Ultrasonic diagnosis of exencephaly/anencephaly during the first trimester].

The paper deals with first trimester diagnosis of exencephaly. In association with first trimester sonographic and cytogenetic screening of chromosomal anomalies in 1145 examined pregnancies 2 exencephalic fetuses with normal karyotype were diagnosed. Exencephaly was characterized with the absence of normal echoes of the exocranium, the lateral ventricles, the chorioid plexus, the cerebral falx, and with the presence of deformed shape of the head and irregular, lobulated cerebral material with increasing volume at follow-up examination.

First-trimester ultrasound screening for fetal aneuploidies in women over 35 and under 35 years of age.

In a prospective screening study, the utility of the thickness of first-trimester simple hygroma in sonographic screening for fetal chromosomal aberrations was examined. A total of 3380 women, 1280 of whom were 35 years or over, and 2100 of whom were under 35 years, were screened by ultrasound at 9-12 weeks of gestation. The thickness of fetal nuchal simple hygroma was measured.