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Biomedical subjects

G Szemere

Publications and source records attributed to G Szemere.

At least 19 recordsLinked to original sources
PubMed2000

[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. The majority of pregnant woman (78%) asked for genetic counselling before the 12. gestational week. The main indications the treatment were: infections, psychiatric-neurologic (depression, anxiety, epilepsy), endocrine (diabetes, hyperthyreoidism), and cardiovascular diseases and gastrointestinal problems. The main groups of the drugs were: antibiotics, antipyretic-, antidepressive-, antidiabetic- and antihypertensive drugs. When the multiple medication was conducted by simultaneous administration of two or more drugs, a complex risk calculation was performed. The fetal risk was higher than 10% in 31 cases (24%). The ultrasound examinations performed by qualified sonographer contributed to a correct evaluation and to reliable follow-up of pregnancies. No suspicious ultrasound finding was reported in the first trimester. However, a severe fatal brain malformation was found in a second trimester pregnancy, which was terminated by the couple's request in the 18th gestational week. A complete follow-up was obtained in 70.9% (90) of the cases. Out of 64 pregnancies intended to continue to term 4 fetal malformations were found. Of them three malformations (patent ductus arteriosus, Robin sequence and a ventricular septal defect) were explored at birth or in the newborn period. The actual 6.3% of fetal malformations was higher compared to the rate expected at birth, but almost equal to the rate of congenital malformation found up to the end of the first year of age in Hungary.

Adult↗
PubMed1996

[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. A total of 105 embryos with simple hygroma of > or = 3 mm and 39 pregnancies with abnormal, hyperechogenic yolk sac of 1.8-4.0 mm in diameter were detected. Cytogenetic analysis through chorionic villi samples revealed chromosomal aneuploidies in 52 cases. In 19 of 3620 pregnancies both hyperechogenic yolk sac and first trimester simple hygroma were present. Each of these 19 pregnancies were chromosomally abnormal. Hyperechogenic yolk sac alone was present in another 20 pregnancies with otherwise normal fetal findings. The authors could not accomplish sonographic identification of the yolk sac in 42 pregnancies. In conclusion, combined presence of hyperechogenic yolk sac plus first-trimester simple hygroma of 3 mm or more in the same pregnancy is highly associated with chromosomal aneuploidy between the 9-11 gestational weeks.

Aneuploidy↗
PubMed1995

[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. Anencephalic fetuses were diagnosed subsequent to therapeutic abortion, since the uterine and cervical wall contractions eroded the fragile brain tissue during fetal expulsion. However, fetal brain was identified in abortion material in both cases providing evidence that exencephaly is an embryologic precursor of anencephaly.

Abortion, Therapeutic↗
PubMed1995

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. Women over 35 years of age underwent transabdominal chorionic villus sampling (CVS). In women under 35 years of age, CVS was offered only if the thickness of nuchal hygroma was at least 3 mm, or in cases of parental chromosomal abnormalities. A total of 46 chromosomal anomalies were detected, of which 43 (93.5%) showed simple hygroma. The incidence of first-trimester simple nuchal hygroma in pregnancies of women over 35 and under 35 years of age was 5.4% (69 cases) and 1.28% (27 cases), respectively, and the percentage of chromosomal abnormalities was 2.9% and 0.43%, respectively. The risks of trisomies and poor pregnancy outcome were increased at larger sizes of first-trimester simple hygroma. A sensitivity of 93.5% and a specificity of 98.4% of the method were found. Using a measurement of first-trimester simple hygroma of > or = 3 mm to identify pregnancies at risk for chromosomal anomalies at 9-12 weeks of pregnancy is a useful method for selection of women with high and low risk for aneuploidy.

Adult↗
PubMed1991

[Data obtained by prenatal diagnosis of maternal age dependence of fetal chromosomal anomalies].

The connection between fetal chromosomal anomalies and advanced maternal age is well established. Theoretical calculations derived from incidence data and the expected ratio of Down's syndrome babies born to mothers between the age of 35-39 and from 40-45 indicate that fetal kariotyping is necessary at the maternal age of 35 or above. Based on 668 prenatal chromosomal studies (both on cultured amniotic cells and direct preparation of the trophoblast obtained by chorionic villus sampling) authors come to the conclusion that all pregnant women above the age of 35 should undergo fetal karyotyping (in order to detect 22% of the conceptuses with a chromosomal defect) since the incidence rate of abnormal fetal karyotype was found 6.08% between 35-39 years, and 8.49% between 40-45 years of maternal age. To achieve this target about 7500 prenatal karyotyping should be performed per year the laboratory and clinical backgrounds of which should be created.

Chorionic Villi Sampling↗
PubMed1988

A nationwide evaluation of multiple congenital abnormalities in Hungary.

A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA (320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were excluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

Abnormalities, Drug-Induced↗
PubMed1984

Karyotyping from uncultured human trophoblast in the first trimester of pregnancy.

Chorionic villi were sampled by transcervical aspiration after ultrasonic localization of the chorion frondosum. Sampling was successful in 82 of 98 women. Subsequent karyotyping of the chorionic material was done by the modified Evans method. Mitoses of reasonable quality were obtained providing an easy cytogenetic diagnosis from human cytotrophoblast. A second trimester chorionic plate biopsy and direct karyotyping in case of severe oligohydramnios and malformed fetus revealing numerical (45, XO) chromosomal abnormality is also reported.

Chorionic Villi↗