• MeSH
• Humans MeSH
• Chorionic Villi Sampling * statistics & numerical data   adverse effects   MeSH
• Prenatal Diagnosis methods   MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Abortion, Spontaneous etiology   MeSH
• Pregnancy MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH

• Keywords
• bezpečnost ultrazvukového vyšetření v těhotenství, četnost úmrtí plodu,
• MeSH
• Amniocentesis statistics & numerical data   adverse effects   MeSH
• Chromosome Disorders diagnosis   MeSH
• Adult MeSH
• Pregnancy Trimester, Second MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Fetal Diseases diagnosis   ultrasonography   MeSH
• Chorionic Villi Sampling statistics & numerical data   adverse effects   MeSH
• Fetal Death epidemiology   MeSH
• Mass Screening MeSH
• Prenatal Diagnosis methods   MeSH
• Pregnancy Trimester, First MeSH
• Retrospective Studies MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal adverse effects   MeSH
• Maternal Age MeSH
• Pregnancy Outcome epidemiology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Pregnancy MeSH
• Female MeSH

OBJECTIVE: To evaluate the implementation of first trimester screening in the Czech Republic during 1996-2007 on the number of infants born with numerical chromosomal anomalies, the gestational age at diagnosis and the number of invasive procedures. DESIGN: A population based cohort study. SETTING: National Registry of Congenital Anomalies, 53 Czech Republic Genetic Departments. POPULATION: About 100,000 pregnancies per year. MAIN OUTCOME MEASURES: Primary outcomes were the rates of fetuses and newborns with diagnosed numerical chromosomal anomalies and the gestational age at diagnosis. Secondary outcomes were the rates of chorion villus sampling (CVS) and amniocenteses and the contribution of age groups on the detection rate of trisomy 21. RESULTS: The number of newborns with Down's syndrome decreased from 5.42/10,000 in 1996 to 3.66/10,000 newborns in the 2007. The total incidence of Down's syndrome increased from 13.42 to 20.66/10,000. The detection rate in women <35 years increased from 35.59 in 1996 to 45.08 in 2007; in women >35 years from 23.73 to 38.52. The number of amniocenteses/detected case of Down's syndrome was 124 in 1996 and 123 in 2007. The corresponding number of CVS decreased dramatically from 83 in 1996 to 10 in 2007. CONCLUSIONS: Despite the increase of maternal age and the corresponding increase of Down's syndrome, the number of newborns with Down's syndrome decreased. Implementation of the first trimester combined screening leads to a shift towards earlier diagnosis of all major chromosomal abnormalities.

• MeSH
• Amniocentesis statistics & numerical data   MeSH
• Adult MeSH
• Down Syndrome diagnosis   epidemiology   MeSH
• Gestational Age MeSH
• Incidence MeSH
• Cohort Studies MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Chorionic Villi Sampling statistics & numerical data   MeSH
• Prenatal Diagnosis MeSH
• Pregnancy Trimester, First MeSH
• Registries MeSH
• Pregnancy MeSH
• Maternal Age MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czech Republic MeSH

V práci jsou prezentovány aktuální výsledky prenatální diagnostiky vrozených vad v České republice v období 1994 – 2008. V první části je rozbor prenatální diagnostiky podle toho, zda došlo k předčasnému ukončení gravidity (sekundární prevence) či nikoliv. V další části je analýza jednak podle použité metody prenatální diagnostiky (amniocentéza /AMC/, odběr choriových klků /CVS/), jednak podle efektivity jednotlivých metod pro diagnostiku Downova syndromu. Na závěr jsou ukázány aktuální počty prenatálně diagnostikovaných případů vybraných vrozených vad a efektivita prenatální diagnostiky chromozomálních aberací (Downův, Edwardsův a Patauův syndrom).

Current results of birth defects prenatal diagnostics in the Czech Republic over the 1994 – 2008 period are presented. In a first part of the study prenatal diagnostics is analyzed according to a pregnancy outcome or a possible pregnancy termination, respectively. Further, an analysis according to a prenatal diagnostic method in use (amniocentesis vs CVS) and their efficiency towards Down syndrome is provided. Finally, current total numbers of prenatally diagnosed cases of selected birth defects and an efficiency of prenatal diagnostics of chromosomal aberrations (Down. Edwards and Patau syndromes) are presented.

• MeSH
• Amniocentesis statistics & numerical data   MeSH
• Down Syndrome diagnosis   MeSH
• Humans MeSH
• Chromosomes, Human, Pair 13 genetics   MeSH
• Chromosomes, Human, Pair 18 genetics   MeSH
• Chorionic Villi Sampling statistics & numerical data   MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Prenatal Diagnosis methods   statistics & numerical data   MeSH
• Pregnancy Trimester, First genetics   MeSH
• Pregnancy MeSH
• Trisomy diagnosis   pathology   MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Validation Study MeSH

Cíl studie: Ověřit efektivitu screeningu I. trimestru (FTS), věk a další faktory jako indikace k invazivnímu vyšetření. Metodika: Retrospektivní analýza indikací k invazivnímu vyšetření a posouzení jejich efektivity ve skupině žen, které v našem centru podstoupily screening I. trimestru. Těmto ženám byl nabídnut kombinovaný screeningový program, tzn. kombinace ultrazvukového vyšetření a biochemických markerů. Invazivní vyšetření a genetická konzultace byly nabídnuty ženám, u nichž výsledné riziko pro trizomii 21, 18 a 13 bylo vyšší než 1 : 300 nebo ženám ve věku nad 35 let, což je v České republice stále platná indikace ke stanovení karyotypu plodu z plodové vody nebo choriových klků. Výsledky: Screening I. trimestru podstoupilo celkem 1700 žen. Z nich 291 mělo víc než 35 let a pouze u 24 z nich bylo riziko vyšší než 1 : 300. Senzitivita záchytu trizomie 21, 18 a 13 byla 100 % (16 případů) s falešnou pozitivitou 4,6 %. Z celého počtu vyšetřených pacientek mělo 79 výsledné riziko vyšší než 1 : 300. Celkový počet provedených invazivních vyšetření byl 150. Amniocentéza byla provedena v 88 případech, z nichž 27 bylo provedeno na základě pozitivního výsledku screeningu s nálezem 3 případů aneuploidie, 36 bylo provedeno z věkové indikace a 25 z jiné indikace – všechny s normálním karyotypem. Odběr choriových klků byl proveden v 62 případech, z nich 52 na základě pozitivního výsledku screeningu s nálezem 13 případů aneuploidie. Ve zbývajících 10 případech bylo 5 provedeno z důvodu pokročilého věku a 5 pro pozitivní rodinnou anamnézu – všechny s normálním karyotypem. Závěr: Celkem 79 invazivních výkonů provedených na základě pozitivního výsledku screeningu zachytilo všech 16 suspektních aneuploidií. Zbývajících 71 invazivních výkonů provedených z věkové indikace (n = 41) a z jiné indikace (n = 30) prokázalo normální karyotyp.

Objectives: To investigate the effectivity of the first trimester screening (FTS), age and other factors as an indication for invasive testing. Methods: A retrospective analysis of indications for invasive procedures and their effectivity in the group of women who underwent screening in the first trimester of pregnancy in our center. Women were offered the combined screening program by ultrasound and biochemical markers. Women with risk more than 1 : 300 for chromosome 21, 18 or 13 trisomies, or those over the age of 35 as this is still and indication for invasive tests in the Czech Republic were offered genetic counseling and invasive testing. Chorionic villous sampling (CVS) or amniocentesis (AMC) was than performed. Results: Of the 1700 women who underwent FTS, 291 were over 35 in which only 24 had a risk higher than 1 : 300. Detection rate of trisomy 21, 18 and 13 were 100%, (16 cases) for a false positive rate of 4.6%. In the whole screened population 79 had a risk more than 1 : 300. The total number of invasive tests was 150. Amniocentesis was performed in 88 cases, only 27 were done on the basis of screening with 3 aneuploidy detected. 36 amniocenteses were done for age and 25 for other indications - all had normal karyotype. The CVS was performed in 62, 52 on the basis of screening with 13 aneuploidy detected. In the other ten cases 5 for age and 5 for family history the karyotype was normal. Conclusion: Altogether 79 invasive procedures based on screening detected all 16 aneuploidies. Remaining 71 invasive tests (n = 41) for age and (n = 30) for other indications had a complete normal karyotype.

• MeSH
• Amniocentesis standards   statistics & numerical data   utilization   MeSH
• Genetic Testing methods   standards   utilization   MeSH
• Humans MeSH
• Chorionic Villi Sampling standards   statistics & numerical data   utilization   MeSH
• Prenatal Care standards   trends   MeSH
• Pregnancy MeSH
• Maternal Age MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH

Cytogenetic information on cells from cytotrophoblast, villus mesenchyme, and one or more fetal tissues was available for 192 gestations with mosaicism or non-mosaic fetoplacental discrepancy involving a single autosomal trisomy in the chorionic villus sample (CVS), registered in a collaborative study (EUCROMIC) during the period 1986-1994. In order to identify predictors of confined placental mosaicism (CPM), generalized mosaicism and/or uniparental disomy (UPD), distribution of the mosaic and nonmosaic aneuploid cell lines in the different fetal and extrafetal cell lineages were analyzed. Data were related to existing hypotheses on mechanisms leading to fetoplacental discrepancies and early extraembryonic cell differentiation. Trisomy 21 mosaicism was the one most frequently confirmed in the fetus. Non-mosaic trisomy 13, 18, and 21 in the villus mesenchyme indicated the presence of a trisomic cell line in the fetus proper. Non-mosaic trisomy 2, 7, and 16 in villus mesenchyme was always found with concomitant mosaic or non-mosaic trisomy in the cytotrophoblast, but was never recovered in the fetus. Mosaic trisomy 3, 7, and 20 was predominantly restricted to the cytotrophoblast, mosaic trisomy 2 to the villus mesenchyme. Trisomies 15 and 16 were most often found in both cytotrophoblast and villus mesenchyme and not in fetal cells. This supports the hypothesis that mosaicism/discrepancy for trisomies 15 and 16 results more often than for the other trisomies from trisomic zygote rescue, enhancing their risk for UPD. We recommend, due to the risk of fetal trisomy, amniocentesis in all gestations involving mosaic autosomal trisomy in villus mesenchyme. In gestations with mosaic or non-mosaic autosomal trisomy in both cytotrophoblast and villus mesenchyme we recommend, in order to exclude fetal trisomy and/or UPD, depending on the chromosome involved, further examination by amniocentesis, ultrasound and/or test for UPD. We also recommend, due to a small but not negligible risk of false negative and false positive diagnoses, not to solely use direct preparation.

• MeSH
• Cell Lineage MeSH
• Karyotyping methods   MeSH
• Humans MeSH
• Mosaicism * MeSH
• Chorionic Villi Sampling * statistics & numerical data   MeSH
• Trisomy * genetics   MeSH
• Research MeSH
• Check Tag
• Humans MeSH
• Publication type
• Multicenter Study MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

• MeSH
• Safety MeSH
• Extremities MeSH
• Chorionic Villi Sampling statistics & numerical data   MeSH
• Fetal Death epidemiology   MeSH
• Limb Deformities, Congenital MeSH

• Conspectus
• Gynekologie. Porodnictví
• NML Fields
• gynekologie a porodnictví
• chemie, klinická chemie
• embryologie a teratologie
• genetika, lékařská genetika
• gynekologie a porodnictví
• NML Publication type
• publikace WHO