[Prenatal diagnostics of birth defects in the Czech Republic--gestational week at the time of diagnosis]. / Prenatální diagnostika vrozených vad v Ceské republice--týdny tehotenství pri diagnostice.

UNLABELLED: AIM AND TYPE OF STUDY: A retrospective study and analysis of data on gestational week at the time of the birth defect diagnoses of both invasive and non-invasive type as well as on gestational week at the time of pregnancy termination in the Czech Republic over the 1996-2003 period. METHODOLOGY: Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data were collected for both birth defects as a total as well as for selected particular types: anencephaly, spina bifida, omfalocele, gastroschisis and Down syndrome. An analysis on gestational weeks at the time of diagnosis and/or pregnancy termination was performed. RESULTS: Mean gestational week at the time of diagnosis was 19.49 for total birth defects and 20.02 for pregnancy termination. Corresponding values (diagnosis x termination) in gestational weeks were as follows: Anencephaly 17.01 and 17.69, spina bifida 19.41 and 19.68, omfalocele 17.64 and 17.99, gastroschisis 17.63 and 1836, Down syndrome 19.81 and 20.43. CONCLUSIONS: Results of aggregate data analysis contribute to a better knowledge of different methods of prenatal diagnosis during different gestational periods. All values of mean gestational week at the time of diagnosis/pregnancy termination slightly decreased during the time of the study in all presented types of birth defects.

[Chromosomal aberrations in prenatal diagnosis--results of karyotyping 2,000 samples of amniotic fluid]. / Chromosomální aberace v prenatální diagnostice--výsledky karyotypizace témer 2,000 odberu plodové vody.

The frequencies of different types of chromosomal abnormalities are shown in a study performed during 1989-1996. 32 pathological karyotypes were found, i.e. 1.6%. The ratio of numerical/structural abnormalities is 1.67. The number of de novo or unexpected structural abnormalities is 67% from all structural ones in this study. This strongly supports the need of complete cytogenetic analysis.

[Occurrence of congenital developmental defects in the Czech Republic in 2001]. / Výskyt vrozených vývojových vad v Ceské republice v roce 2001.

OBJECTIVE: Analysis of incidences of congenital malformations (CM) in prenatal and postnatal diagnostics in the Czech Republic in 2001 and a comparison to the years 1994-2000. DESIGN: A retrospective demographic-epidemiological study. SETTING: Institute for Care of Mother and Child, Prague. METHODS: Analysis of incidences of CM and chromosomal aberrations in live- and stillbirths and their number in prenatally diagnosed cases in the Czech Republic in 2001. Data On CM incidences were obtained form those registered in statistical reports (CM in a fetus or a child) collected through the Institute of Health Information and Statistics of the Czech Republic (UZIS). Data available by the end of October 2002 were analysed. Supplementary data on prenatal diagnostics cases were obtained from particular departments of medical genetics in the Czech Republic. RESULTS: There were 90,715 livebirths in 2001 compared to 90,910 livebirths in 2000. The total number of children with CM in 2001 was 3,572 additional 457 cases were diagnosed prenatally and the pregnancies were terminated, whereas in 2000, 3,751 children with CM were born and 425 cases were diagnosed prenatally (and pregnancies were terminated). CONCLUSION: Data analysis from the CM registration in the Czech Republic has continued also in 2001 due to a good collaboration with both UZIS and particular departments of medical genetics. The total number of registered CM cases in livebirths is increasing in the last years, despite of prenatal diagnostics techniques level, which is comparable to the level in the most advanced countries.

[Week of pregnancy in which birth defects were prenatally diagnosed in the Czech Republic in 1996-2002]. / Týden tehotenství pri prenatální diagnostice vrozených vad v Ceské republice v období let 1996-2002.

OBJECTIVE: To evaluate the week of pregnancy in which birth defects were prenatally identified and the week of pregnancy in which pregnancy was terminated due to these defects in the Czech Republic in the period from 1996 to 2002. As regards data on Down's Syndrome, comparison to the data from other countries. DESIGN: A retrospective study, which identifies the week of pregnancy when congenital defects are identified through invasive as well as non-invasive prenatal diagnostics and the week of pregnancy when the pregnancy is terminated because of these defects. METHODS: The data were obtained from individual medical genetics facilities. The data are stated for all defects prenatally diagnosed as well as for the defects, which are most frequently prenatally diagnosed - from among neural tube defects, anencephaly and spina bifida were covered; from among abdominal fissures, omphalocele and gastroschisis were covered. Out of inborn chromosomal aberrations, the most frequently diagnosed chromosomal aberration - Down's Syndrome - was covered. RESULTS: The average time of prenatal diagnostics of the birth defects was 19.48 week and the average time of termination of pregnancy due to these defects was 20.11 week. Anencephaly was diagnosed after 17.16 weeks and terminated after 17.84 weeks of the pregnancy on the average. Prenatal diagnostics of spina bifida was carried out after 19.25 weeks and terminated after 19.70 weeks. Omphalocele was identified after 17.55 weeks and terminated after 17.99 weeks. The second type of defect of abdominal wall - gastroschisis was identified after 17.93 weeks and terminated after 18.65 weeks. On the average, Down's Syndrome was diagnosed after 19.81 weeks and terminated after 20.43 weeks. It can be said about all the defects that during the monitored years there was a slight reduction of the period after which the defect was identified as well as of the period after which pregnancy was terminated. CONCLUSION: For all the presented selected birth defects as well as for the defects as a whole, it can be said that during the monitored years there was a slight reduction of the average period after which the defects were identified and as well as of the average period after which pregnancy was terminated.

[Incidence and survival in children with selected types of congenital defects in the Czech Republic from 1994 to 2001. (Part 1)]. / Výskyt a prezívání detí s vybranými typy vrozených vad v Ceské republice v období 1994-2001 (1. Cást).

OBJECTIVE: Analysis of prenatal and postnatal incidence of selected types of birth defects in the Czech Republic in the period of 1994-2001. In the postnatally diagnosed cases the survival in the course of the first year of life was analyzed. Selected birth defects--anencephaly, spina bifida, encephalocele, neural tube defects, congenital hydrocephalus, Down syndrome, were investigated. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the UZIS Czech Republic in the period of 1994-2001. METHOD: The authors analyzed frequency of prenatally and postnatally diagnosed cases of 6 selected types of birth defects in the period of 1994-2001 in the Czech Republic. In cases where the diagnosis was established after birth, analysis of survival and death rate during the first year of life was performed for selected birth defects. RESULTS: In the period of 1994-2001, 745,410 children were born in the Czech Republic. There were 3,572 children with one or more birth defects diagnosed in this cohort during the first year of life. The mean incidence of all cases in this period of observation was 304.52 per 10,000 live born children. The percentage of prenatally diagnosed cases, ended for this diagnosis in the above mentioned period of observation, was on the average 72.5% in neural tube and the highest in anencephaly--more than 96%. In cases of congenital hydrocephalus it was higher than 45% and in Down syndrome it represented 56.5%. The survival in children with neural tube defects was 82.5% on the average, being obviously zero in anencephaly. The children with congenital hydrocephalus survive in more than 75% and those with Down syndrome survive in almost 95%. CONCLUSION: Incidence of these types of birth defects in newborns in the Czech Republic is presently lower than in previous years particularly due to successful prenatal diagnostics. Cases, where the diagnosis is established after delivery, represent an important part of perinatal, neonatal and post-neonatal mortality and morbidity.

[Occurrence and survival in children with selected types of congenital defects in the Czech Republic 1994-2001. Part 2]. / Výskyt a prezívání detí s vybranými typy vrozených vad v Ceské Republice v období 1994-2001. 2. cást.

OBJECTIVE: Analysis of prenatal and postnatal incidence of selected types of birth defects in the Czech Republic in the period of 1994-2001. In the postnatally diagnosed cases the survival in the course of the first year of life was analyzed. Selected birth defects--omphalocele, gastroschisis, abdominal wall defects, renal agenesis and hypoplasie, cystic kidney disease, diaphragm hernia. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the Institute of Health Information and Statistie of the Czech Republic in the period of 1994-2001. METHOD: The authors analyzed frequency of prenatally and postnatally diagnosed cases of 6 selected types of birth defects in the period of 1994-2001 in the Czech Republic. In cases where the diagnosis was established after birth, analysis of survival and death rate during the first year of life was performed for selected birth defects. RESULTS: In the period of 1994-2001, 745,410 children were born in the Czech Republic. There were 22,711 children with one or more birth defects diagnosed in this cohort during the first year of life. The mean incidence of all cases in this period of observation was 304.52 per 10,000 live born children. The percentage of prenatally diagnosed cases, ended for this diagnosis in the above mentioned period of observation, was 66% in abdominal wall defects, 55% in omphalocele and 77% in gastroschisis. In cases where the diagnosis was established after birth, 93.55% of children survived the first year of life. In cases of birth cystic kidney 25% were diagnosed prenatally and ended for renal agenesis and hypoplasie of the kidneys and 27% due to cystic kidney. In cases of diaphragmatic hernia, 31% of cases were diagnosed an ended prematurely after positive prenatal diagnosis, and about one third of affected children died during the first year of life. CONCLUSION: Incidence of these types of birth defects in newborns in the Czech Republic is presently lower than in previous years particularly due to successful prenatal diagnostics. Cases where the diagnosis is established after delivery represent an important part of perinatal, neonatal and post-neonatal mortality and morbility.

[The incidence of birth defects in Czech Republic in 2002]. / Výskyt vrozených vývojových vad v Ceské republice v roce 2002.

OBJECTIVE: Analysis of incidence of birth defects prenatally and postnatally diagnosed in the Czech Republic during 2002 and a comparison with the years 1996-2001. TYPE OF STUDY: Retrospective demographic-epidemiologic study. METHODS: Analysis of incidence of birth defects (BD) in live- and still-born children and the number of prenatally diagnosed cases of birth defects and chromosomal aberrations in the Czech Republic in 2002. The incidence data of BD were obtained from those registered in statistical reports, birth defect of foetus or child, which have been registered in the Institute for Medical Information and Statistics of Czech Republic. Those data, which became available to the authors by the end of October 2003, were processed. Supplementary data on prenatally diagnosed cases were obtained from individual workplaces of medical genetics in the Czech Republic. RESULTS: A total of 93,047 children were born in 2002 in the Czech Republic. There were reports on 3673 children with BD detected up to one year of life. There were 2131 boys ad 1542 girls affected with BD. The representation for 10,000 live-born children was 395.9 in comparison with 418.3 in the year 2000 and 405.0 in the year 2001. CONCLUSION: The total numbers of BD have not changed in the last three years, while the increase in 1998-2000 came to a halt in 2001 and 2002. The prenatal diagnostics for severe congenital defects in the Czech Republic prove to be at high level, which is comparable with advanced countries of the world.

[Incidence of congenital defects in the children of mothers who used medications in the first trimester of pregnancy in the Czech Republic 1996-2001]. / Výskyt vrozených vad u detí v potomstvu matek uzívajících v I. trimestru gravidity medikaci v Ceské republice v období 1996-2001.

OBJECTIVE: Analysis of the results from registration of congenital defects in children of mothers taking therapeutic drugs in the first trimester of pregnancy and comparison with a control group in the Czech Republic in the period of 1996-2001. DESIGN: A retrospective analysis of data from the registry of congenital defects in the Czech Republic. SETTING: Institute for the Care of Mother and Child, Prague. METHODS: Analysis of incidences of selected types of congenital defects detected in newborns of mothers taking therapeutic drugs during the first three months of pregnancy. The paper employed data from the all-state registration of congenital defects held in the Institute of Medical Information and Statistics of the Czech Republic in the period of 1996-2001. Data from healthy children born to mothers who took therapeutic drugs during the first trimester of pregnancy were used as a control set. RESULTS: In the period we observed, a total of 17,674 cases of children with diagnosed congenital defect were detected in the registration of congenital defects in the Czech Republic. In this number there were 784 cases of children whose mothers used therapeutic drugs during the first trimester of pregnancy. The control group included 1,034 women who gave birth to healthy children without congenital defects, although they took therapeutic drugs during the first trimester of pregnancy. Statistically significantly higher risk was found in 13 groups of diagnoses: anencephaly, inborn hydrocephalus, spina bifida, inborn defects of eyelids, lacrimal system and orbita, anoftalmus, microphthalmus and macrophthalmus, inborn defects of ear, congenital defects of the heart septum, congenital defects of great veins, cleft palate with cleft lip, congenital defect of gall bladder, biliary pathways and liver, congenital deformities of the hip, reduction deformities of upper extremity, congenital defects of muscular and skeletal system. Significantly higher risks were found for five groups of therapeutic drugs: anticoagulants, antihypertensive drugs, peripheral vasodilatants, urological drugs and antiepileptic drugs. CONCLUSION: It is obviously impossible to draw significant conclusions with clinical consequences on the basis of these results. Nevertheless, our results supplemented international databases of untoward effects of drugs and the conclusions may become a part of data set necessary for analysis of possible teratogenic effects of drugs used in the critical developmental period during the first trimester. The pregnant women should avoid, during the first trimester, all drugs except those, which are carefully medically indicated and accepted as adequately safe. The administration of other drugs should be evaluated by a clinical geneticist, who should take into account genetic and teratogenic risk in individual cases.

[Incidence of birth defects in children of mothers using medications in the 1st trimester of pregnancy in the Czech Republic 1996-2002]. / Výskyt vrozených vad u detí v potomstvu matek uzívajících v I. trimestru gravidity medikaci v Ceské republice v období 1996-2002.

OBJECTIVE: To process the results on the incidence of birth defects in the children of mothers using medicines in the first trimester of pregnancy in the Czech Republic during 1996-2002. DESIGN: A retrospective analysis of data from the National Register of birth Defects in the Czech Republic. METHODS: The data from the nationwide register of birth defects administrated in the Institute of Health Information and Statistics of the Czech Republic for the period 1996-2002 were used for the study. The data on the incidences of selected types of birth defects identified in children born to mothers using medicines in the first trimester of pregnancy were compiled and an analysis of these medicines was carried out in relation to the diagnosed types of birth defects. The data on healthy children born to mothers using medicines during the 1st trimester of pregnancy were used as the control sample. RESULTS: In our retrospective analysis covering the years 1996-2002, a total of 1,146 birth defects were identified in children of women using medication in the 1st trimester of pregnancy and a total of 891 children affected in this way were identified. CONCLUSION: The study presents the updated results of these analyses based on nationwide registration of birth defects for a seven-year period. It analyses the types of birth defects in the children of women using medication in the 1st trimester of pregnancy and the types of medicines used by these women. In our study, we have found a significantly higher incidence in the population of the children born to women using medicines in the 1st trimester of pregnancy in several cases. From among the group of cleft defects affecting the central nervous system, this concerns for example anencephalia and spina bifida, as well as congenital hydrocephalus, anophthalmy/microphthalmy, auricle abnormalities and limb reduction deformities. From these results that we produced, it is of course not possible to draw significant conclusions with a clinical impact. However, pregnant women should avoid any medicines in the first trimester of pregnancy, except for those cases, which are strictly indicated from the medical point of view and which are recognised as reasonably safe. As concerns the use of other medicines, their genetic and teratogenic risk should be assessed comprehensively by a specialised clinical geneticist on a case-by-case basis.

Genetic aetiology of reproductive failures.

The percentage of couples who have problems with reproduction is growing in industrialised nations. Clear genetic aetiology of reproductive failures can be discovered in at least one-sixth of them. All these couples should undergo a comprehensive genetic examination including karyotyping of both partners. Results were obtained over a period of 12 years (1985-97) when studying couples with reproductive failures by taking their detailed family histories and by cytogenetic analysis of their karyotypes. The study subjects were 410 couples (i.e. 820 persons) with different types of reproductive failure from Prague and its surroundings. In 3.16%, one member had an aberration of autosomes and, in 4.38%, one member had an aberration of sex chromosomes. Of these 7.3% had, besides infertility and/or repeated spontaneous abortions, the birth of a child with a polygenic congenital malformation. A detailed genetic investigation of couples with reproductive failures should not be neglected when trying to find the best treatment.