The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women >or=35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.

Down Syndrome↗

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Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe.

The objective of this study was to evaluate the prenatal detection of chromosomal abnormalities by fetal ultrasonographic examination in a large database provided by 19 Registries of Congenital Anomalies from 11 European countries. This study included 1738 cases of chromosomal abnormalities, liveborn, stillborn or termination of pregnancy regardless of maternal age from a population of 664,340 births during the period 1996 - 1998. The most frequent chromosomal anomalies were Down syndrome (n=1050), trisomy 18 (n=191), Turner syndrome (n=125), trisomy 13 (n=86), and triploidy (n=56). Fetal ultrasonographic examination resulted in the prenatal detection of 37.7% of the chromosomal abnormalities, thereby resulting in a reduction of 28.6% in their prevalence at birth due to terminations of pregnancy. The detection rate by ultrasound examination varied according to local policies of prenatal diagnosis : it was lower in countries where routine scan were not performed and higher in countries in which at least one routine anomaly scan during the second trimester of pregnancy was performed. The ultrasound detection varied according to the specific chromosomal anomaly and was lowest for Klinefelter syndrome (5.7%) and highest for triploidy (78.6%). For Down syndrome it was 26.4%. Termination of pregnancy was performed in 75.9% of the cases. Among the 655 cases detected by ultrasound, the most frequent ultrasound signs by category of chromosomal abnormalities were analysed. This study shows that ultrasound screening is an important tool in the prenatal detection of chromosomal abnormalities in Europe, leading to a significant reduction in the prevalence of livebirth children with chromosomal anomalies.

Abnormalities, Multiple↗

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Recent evaluations on the treatment of lymphoedema.

Explore the source record for details and available documents.

Evaluation Studies as Topic↗

PubMedDate not supplied

Alpha-fetoprotein in obstetrics. Experience of a prenatal diagnosis center.

For several years the determination of maternal serum alpha-fetoprotein (MSAFP) levels has been utilized to screen the patients at increased risk for foetal neural tube defects. In this way, various problems have been more and more dealed, from the definition of "cut-off" levels which could be guarantee an acceptable rate of diagnoses, limiting however the number of normal pregnancies which undergo further ascertainments, to the search of indoneous protocols of diagnostic approach in cases of high MSAFP levels. The wide clinical use of MSAFP determination has lead to the availability of a large number of data in various classes of obstetrics population, and to search for new diagnostic chances offered by this metodology. Among these, a great interest has been pointed out to the use of MSAFP determination to screen for Down's syndrome foetuses and to utilize MSAFP as a predictive index of perinatal pathology. The Authors describe their own experience in these diagnostic fields.

Adult↗

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High maternal serum alpha-fetoprotein levels during the 2nd trimester of pregnancy: diagnostic approach.

The limit of the classic diagnostic protocols following the evidence of high maternal serum alpha-fetoprotein levels is represented by the high number of amniocenteses performed and that, in the most part of cases, give false negative results. Now days the introduction of high resolution ecographic equipments allows to us, in many cases, to clarify the diagnostic without further examinations. The Authors propose a diagnostic protocol that include the execution of high resolution ultrasound at the second withdrawal of serum alpha-fetoprotein, limiting the use of amniocentesis only when is necessary to determine the fetal karyotype. An high sensibility diagnostic system with a favourable cost/benefit ratio results from this approach.

Amniocentesis↗

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Evaluation of maternal serum alpha-fetoprotein and ultrasound examination to screen fetal chromosomal abnormalities.

Maternal serum alpha-fetoprotein (MSAFP), anatomic anomalies and precocious defects of foetal growth were shown as possible "indicators" of foetal chromosomal pathology, in particular Down's syndrome, and thus suggested for prenatal screening of risk patients for this chromosomal abnormalities. The Authors carried out a retrospective study on 1472 patients who underwent amniocentesis for prenatal diagnosis. Between the 15th and the 20th week, a dosage of MSAFP was effected, in order to evaluate if the serum concentration of this substance could predict Down's syndrome. A contemporary study by echographic monitoring was effected on 500 patients from the 1st trimester of pregnancy, in order to detect possible foetal growth retardation precociously and to determine the karyotype in these cases. Results are very interesting and suggest both the dosage of MSAFP and the ecographic monitoring for prenatal screening of trisomy 21, especially in maternal age classes younger than 40 years, where the cost/benefit ratio of screening for maternal age is less favourable.

Adult↗

PubMedDate not supplied