Etiology, prenatal diagnostics and outcome of ventriculomegaly in 230 cases.

OBJECTIVE: The aim of this study was to review and summarize the information regarding the etiology, diagnostics and outcome of ventriculomegaly. METHODS: The study included 230 cases of ventriculomegaly examined between 1979 and 2000. The main diagnostic criterion for ventriculomegaly was the transverse diameter of the ventricular atrium at the level of the glomus of the chorioid plexus measuring >10 mm, irrespective of gestational age. RESULTS: Gender distribution (male:female ratio: 0.98) coincided with that of the general population. In 32% of the cases (72/230), the history was positive; 6% (12/230) had a positive genetic history, while 26% (60/230) were associated with pathological obstetric events. The incidence rate of ventriculomegaly in the patients' history was found to be 2.61% (6/230). In nearly 60% of the cases included in this study, ventriculomegaly was diagnosed before the 24th week of pregnancy. Fresh fetal infection confirmed by Toxoplasma PCR real-time examination was diagnosed only in cases of severe ventriculomegaly. Based on the measurement of the diameter of the atrium of the lateral ventricle, severe and mild ventriculomegaly was diagnosed in 142/230 (61.7%) and 88/230 cases (38.3%), respectively. Termination of pregnancy was significantly more frequent in cases of severe than of mild ventriculomegaly (92 vs. 66%). CONCLUSIONS: The importance of positive obstetric and/or genetic history should be emphasized as it is in direct relationship with the increased incidence of this malformation. Regarding the practice of ultrasonography, mild ventriculomegaly (transverse diameter of the lateral ventricle <15 mm) has a much better prognosis than the severe form (transverse diameter of the lateral ventricle >15 mm) of the malformation. Based on the ultrasonographic diagnosis of ventriculomegaly, TORCH serological examination is also recommended since treating toxoplasmosis by medication may have a promising prognosis for the pregnancy. In cases of isolated ventriculomegaly alone, intrauterine karyotyping is not necessarily indicated, but in cases where ventriculomegaly is associated with other genetic disorders karyotyping should definitely be performed. Since ventriculomegaly is not incompatible with postnatal life by itself, the decision about the fate of the pregnancy is largely dependent on the presence of other organic disorders.

Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts.

OBJECTIVES: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). METHODS: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. RESULTS: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). CONCLUSIONS: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

Ultrasonographic findings of fetal aneuploidies in the second trimester--our experiences.

OBJECTIVES: The aim of this study was to determine the incidence of ultrasound findings in common fetal chromosomal defects on a relatively large series coming out from one institution. We also tried to evaluate possible clusters of ultrasound signs of major chromosomal defects. METHODS: Of the 22,150 fetal karyotypings, 514 abnormal karyotypes (2.3%) were diagnosed prenatally between 1990 and 2004. Of them, 374 were further evaluated for abnormal ultrasound signs in this study. These represented the major chromosomal defects of Down syndrome (n = 207), trisomy 18 (n = 70), trisomy 13 (n = 28) and Turner syndrome (n = 69). RESULTS: The incidences of major structural defects and minor anomalies were evaluated then sonographic signs with the highest incidences were established in each of the major chromosomal defects. In fetuses with trisomy 13, besides cardiac defects, the most frequently seen structural abnormalities were central nervous system anomalies and facial anomalies. In fetuses with trisomy 18 and trisomy 21, cardiac anomalies were the most common structural sonographic features, whereas the most common findings were hygroma colli and fetal hydrops in fetuses with Turner syndrome. As far as minor anomalies are concerned, increased nuchal fold was the most predictive marker of each major aneuploidy. Choroid plexus cysts were more common in trisomy 18, whereas echogenic intracardiac foci were more frequently detected in fetuses with trisomy 13 and trisomy 21. CONCLUSION: This study may help to select the most predictive components of the genetic sonogram which may assist the counseling of women for the actual risk of the major chromosomal abnormalities.

Craniospinal malformations in a twelve-year fetopathological study; the efficiency of ultrasonography in view of fetopathological investigations.

BACKGROUND: Craniospinal malformations represent a heterogeneous group of congenital malformations by their morphology and etiology alike. Certain craniospinal malformations could be diagnosed as early as the dawn of ultrasonography and this group of malformations has been the focus of attention ever since. AIMS: : The aim of the authors was to review the main characteristics of craniospinal malformations, as well as to evaluate the efficiency of ultrasonography based on autopsy examinations during twelve years. STUDY DESIGN: The current study comprises the details of 339 pregnancies terminated by induced abortion for craniospinal malformation between 1995 and 2006. RESULTS: Maternal median age was 27+/-5.8 years, ranging from 15 to 47 years. In 24.5% of the cases, there was a positive obsterical-gynecological or genetic history. In 68.1% of the cases, ultrasonographic and autopsy findings were completely identical; in 24.2% a partial coincidence was found, but autopsy allowed for further diagnoses, while in 26 cases (7.7%) different findings were obtained by prenatal ultrasonography and fetopathological investigations. In half of the latter 26 cases, induced abortion was suggested due to hydrocephalus confirmed by ultrasonography but not justified by autopsy or the autopsy revealed the presence of other craniospinal malformation(s). CONCLUSION: It can be concluded that - in view of the diagnostic efficiency of fetopathological investigations - the ultrasonographic diagnosis of hydrocephalus should be interpreted independently from other craniospinal malformations on the basis of principles of ultrasonographic methodology and at different times.

[Craniospinal malformations in a twelve-year fetopathological study; the efficiency of ultrasonography in view of fetopathological investigations]. / Craniospinalis malformatiók 12 év foetopathologiai vizsgálatainak anyagában; az ultrahang-diagnosztika hatékonysága a foetopathologiai vizsgálatok tükrében.

BACKGROUND: Craniospinal malformations represent a heterogeneous group of congenital malformations by their morphology and etiology alike. Certain craniospinal malformations could be diagnosed as early as the dawn of ultrasonography and this group of malformations has been the focus of attention ever since. AIMS: The aim of the authors was to review the main characteristics of craniospinal malformations, as well as to evaluate the efficiency of ultrasonography based on autopsy examinations during twelve years. STUDY DESIGN: The current study comprises the details of 339 pregnancies terminated by induced abortion for craniospinal malformation between 1995 and 2006. RESULTS: Maternal median age was 27 +/- 5.8 years, ranging from 15 to 47 years. In 24.5% of the cases, there was a positive obstetrical-gynaecological or genetic history. In 68.1% of the cases, ultrasonographic and autopsy findings were completely identical; in 24.2% a partial coincidence was found, but autopsy allowed for further diagnoses, while in 26 cases (7.7%) different findings were obtained by prenatal ultrasonography and fetopathological investigations. In half of the latter 26 cases, induced abortion was suggested due to hydrocephalus confirmed by ultrasonography but not justified by autopsy or the autopsy revealed the presence of other craniospinal malformation(s). CONCLUSION: It can be concluded that--in view of the diagnostic efficiency of fetopathological investigations--the ultrasonographic diagnosis of hydrocephalus should be interpreted independently from other craniospinal malformations on the basis of principles of ultrasonographic methodology and at different times.

Neural tube defects in the sample of genetic counselling.

OBJECTIVE: This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years. METHODS: The investigations were made into the sample of 743 NTD diagnosed between 1 January 1976 and 31 December 2002. A computerized database was used to sum up the available information about the individual cases; in addition to surveying the couples' major demographic details, we also had the opportunity to collect detailed information about the history, diagnostics (ultrasound) and outcome of the pregnancies as well as the results of the autopsies during the investigation. RESULTS: In the 743 cases of NTD, maternal and paternal median ages turned out to be 23.7 years (+/-5.22 years) and 28.7 years (+/-5.81 years), respectively. The male:female ratio was 0.78. Comparable samples of anencephaly and spina bifida allowed for the conclusion that a positive genetic history was equally often found while a positive obstetrical history was almost twice as common in anencephaly. The sensitivity of the maternal serum-alpha fetoprotein (AFP) screening test is the highest in anencephaly and lowest in encephalocele. While the majority of cases of anencephaly were diagnosed before the 24th gestational week, examples of diagnosing spina bifida and encephalocele at a later time could also be found. Among the associated malformations other than those of the central nervous system special mentioning should be made of fetal pyelectasia, cleft palate as well as diaphragmatic herniation. No pathological karyotypes were found in association with encephalocele or spina bifida, but anencephaly was accompanied with trisomy 21 and trisomy 18 in one case each. Anencephaly was found to have the highest risk of recurrence in both nervous system malformations and malformations other than those of the nervous system. Sonography proved to be the most reliable method in cases of enecephalocele. CONCLUSION: The respective median values of maternal and paternal age show that aetas has no role in the occurrence of NTDs. NTDs are more common among girls. Positive genetic, obstetrical and medical findings are of great importance in the incidence of NTDs. Although reliable to only a limited extent, maternal serum-AFP tests are considered to be useful and necessary in screening NTDs, while sonography is the gold standard method in recognizing these frequent malformations. The knowledge of the eventual associated malformations is mainly important in certain cases of spina bifida, which may also yield a good post-natal prognosis. Our data obtained from the sample of 26 years also confirm that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of NTDs.

The role of perinatal autopsy in the management of pregnancies with major fetal trisomies.

We assessed the value of perinatal autopsy following mid-trimester termination of pregnancy due to major fetal trisomies. Singleton fetuses (n=305) that underwent prenatal sonography and karyotyping during the second trimester of pregnancy and that had trisomy 21, trisomy 18, or trisomy 13 constituted the study population. The findings of second trimester sonography and fetal autopsy were compared. Altogether, 611 separate major structural malformations were diagnosed during autopsy. Full agreement was achieved between sonography and autopsy in 35.8% of the malformations. The additional findings at autopsy (64.2%) involved mainly two organ systems: face, including ears and eyes, and extremities, including hands and feet. Some ultrasound findings were not confirmed at autopsy (n=49). Concordance rates between sonography and autopsy findings regarding soft markers were considerably high in cases of increased nuchal fold thickness and short femur/humerus. On the other hand, fetal autopsy was of limited value as far as hyperechoic bowel and echogenic intracardiac foci are concerned. Pathologic examination provides additional information regarding many fetuses with aneuploidy, and may indicate possible directions of sonographic screening for major chromosome aberrations. However, prenatal sonography and perinatal autopsy should be considered as complementary ways of increasing our knowledge about the possible features of fetal aneuploidies.

Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases.

BACKGROUND: Together with chromosome 19, chromosome 20 belongs to group F, the group of small metacentric chromosomes. Trisomy 20 mosaicism is one of the most frequent chromosomal mosaicisms, representing approximately 16% of prenatally diagnosed cases. In nonmosaic trisomy 20, the usual findings are severe and manifold. Only 3 cases in the literature involved fetuses surviving past the first trimester. CASES: In case 1, a 42-year-old woman presented in her sixth pregnancy; she had had 4 vaginal deliveries of term infants and a miscarriage. Both her familial and personal genetic histories were unremarkable. Genetic amniocentesis was performed in the 18th gestational week for advanced maternal age. Sample analysis revealed a normal, male karyotype in 27 mitoses, while 4 were trisomy 20 (46,XY [27]/47,XY, +20 [4]). In the 37th gestational week a live, immature, male infant weighing 1,730 g was delivered. Chromosomal investigation of the newborn's blood sample did not reveal trisomy 20 but a normal male karyotype. In case 2, a healthy 37-year-old nullipara underwent amniocentesis at the 18th week of pregnancy for advanced maternal age. Amniotic fluid cell karyotype revealed trisomy 20 (47,XX, +20). Ultrasonography performed simultaneously with genetic amniocentesis showed slightly shortened fetal long bones, detectable narrowing of the cranium in the region of the frontal bone, lateral ventricles of 10 mm in width bilaterally, echogenic bowel and polyhydramnios. Abortion was induced in the 23rd week of pregnancy, and a 490-g female fetus was delivered. CONCLUSION: Based on these 2 well-documented, prenatally diagnosed cases, as far as genetic counseling is concerned, nonmosaic trisomy 20 is much less challenging than its mosaic form since the prognosis is uniformly poor in the former.

Prenatal diagnosis of trisomy 13: analysis of 28 cases.

OBJECTIVE: The purpose of this study was to investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 13. METHODS: Of 22,150 fetal chromosome analyses, 28 fetuses with trisomy 13 were found between 1990 and 2004. Sonographic findings of this aneuploidy were analyzed in this study. RESULTS: The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. There was an 89.3% (n = 25) total prevalence of sonographic abnormalities in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), whereas minor anomalies were detected on sonography in 16 cases (57.1%). Although in 2 fetuses 1 minor anomaly was the only sonographic sign of trisomy 13, other cases with minor anomalies (87.5% [n = 14]) were multiplex malformations, in which combinations of major and minor anomalies were detected on sonography. The most frequently seen structural abnormalities were central nervous system and facial anomalies (64.3% [n = 18]). Among central nervous system anomalies, ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular anomalies were detected in 53.6% (n = 15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in diagnosing this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. CONCLUSIONS: Second-trimester sonographic examination is capable of showing anomalies that are characteristic of trisomy 13; thus, the scan can indicate whether fetal karyotyping is advisable. Incorporation of careful assessment of the fetal cardiovascular system by sonography certainly increases the detection rate of trisomy 13.

Detection of Toxoplasma gondii from amniotic fluid, a comparison of four different molecular biological methods.

BACKGROUND: The infection caused by the parasite Toxoplasma gondii (T. gondii) is often asymptomatic or has mild symptoms. The infection can cause serious problems in pregnant women who acquire the infection during gestation and their fetuses are congenitally infected. METHODS: We tested 64 amniotic fluid samples for the presence of T. gondii by using fluorescent PCR and DNA fragment analysis. Later we compared four different molecular biological methods for the detection of the presence of T. gondii on same frozen DNA samples. These methods are the conventional PCR, fluorescent PCR with DNA fragment analysis, quantitative real-time PCR with SYBRGreen I and with fluorescence energy transfer hybridization probe detection. We determined the detection limit of these methods. RESULTS: The conventional PCR and quantitative real-time PCR with SYBRGreen I detection have the detection limit of 1000 parasites, followed by fluorescent PCR with the detection limit of 10-100 parasites. The real-time PCR using fluorescence energy transfer hybridization probes can detect one parasite. This is the most sensitive and the fastest method. We detected 5 T. gondii positive samples with all methods from the studied 64 amniotic fluids. CONCLUSIONS: All studied molecular biological methods are suitable for the detection of congenital toxoplasmosis. The quantitative real-time PCR based methods are more sensitive, simple and easy to perform these are opening the avenue to find out the effect of the number of parasites on fetal abnormalities.

[The role of ultrasonography in second trimester screening for fetal chromosome aberrations]. / A terhesség második trimeszterében végzett ultrahangvizsgálat szerepe a magzati kromoszóma-rendellenességek szuréseben.

UNLABELLED: The role of ultrasound examination in second trimester screening for fetal aneuploidies. OBJECTIVE: Authors sought to determine the frequency of ultrasound findings in major chromosomal defects. They also tried to evaluate possible patterns of ultrasound signs of fetal chromosomal defects. METHODS: Through the time period of 15 years (1999-2004) 22,150 fetal karyotypings were done, and 514 abnormal karyotypes (2.3%, 514/22,150) were diagnosed prenatally. Congenital anomalies of these fetuses, detected by second trimester sonography, were analyzed in this study. RESULTS: Of the 514 chromosome aberrations, 207 fetuses with trisomy 21 (40.3%), 70 fetuses with trisomy 18 (13.6%), 28 fetuses with trisomy 13 (5.4%), 69 fetuses with Turner syndrome (13.4%) and 12 fetuses with triploidy (2.3%) were detected. The incidences of major structural defects and minor anomalies were evaluated then ultrasound signs with the highest incidences were established in each of the major chromosomal defects. CONCLUSION: This study may help to select the "optimal components" of the genetic sonogram that would assist the counseling of women for the risk of a chromosomal abnormality. Other advantages of such approach could be the standardization of the contents of ultrasound examination among different health care providers and institutions, and a decrease in false-positive rates.

Trisomies and other chromosome abnormalities detected after positive sonographic findings.

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.

Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci.

OBJECTIVES: Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 detection was described recently. We studied the reliability of this method on a cohort of samples of Hungarian patients. METHODS: DNA was isolated with silica adsorption method from amniotic fluid cells. We investigated 67 trisomy 21 and 62 diploid samples in the study. Quantitative real-time PCR was performed using hybridization probes combined with melting curve analysis. Peak areas under the derivative curves were determined and analyzed. RESULTS: The SNP marker WIAF 899 was informative in 41.86% of cases and WIAF 2643 in 48.83%. The melting curve area ratios were significantly different between trisomic and normal cases for WIAF 899 (trisomic 0.5246 +/- 0.2498 vs 0.8347 +/- 0.5234; p < 0.001), while in the case of WIAF 2643, they were not different. CONCLUSION: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.

[Bilateral hypogastric artery ligation for control of pelvic hemorrhage, reduction of blood flow and preservation of reproductive potential. Experience with 117 cases]. / Az arteria hypogastrica ligatura helye a kismedencei vérátáramlás csökkentésében, a vérzés csillapításában es a reproduktív képesség megorzésében 117 esetünk kapcsán.

MATERIAL AND METHOD: The topography of the hypogastric (internal iliac) artery, its pelvic collateral anastomoses, the procedure and physiological consequences of hypogastric artery ligation are described. Indications and clinical findings in 117 cases of bilateral hypogastric artery ligation for uncontrollable pelvic bleeding are presented. RESULTS: In all 37 obstetric cases, hemorrhage was effectively controlled. There was no need for reoperation, and in 13 cases even the uterus could be preserved, with 4 women having delivered mature infants up until now. The uterus was successfully preserved even in cases such as cervical pregnancy, placenta previa, placental abruption, uterine atony, and uterine rupture. Out of 80 gynecological cases, hypogastric ligation was performed to control intractable hemorrhage in 41 patients, while prophylactic reduction of pelvic blood flow was the indication of the procedure in 39 cases. Prophylactic ligation was performed in 34 women because profuse bleeding was expected. In the remaining 5 cases, the procedure was done for requests of patients who were members of Jehova's Witnesses. Out of cases with preserved uterus one woman delivered mature infant up until now. Apart from a slight lesion of the hypogastric vein, no complications have been observed in relation to these 117 cases of bilateral hypogastric artery ligation. CONCLUSION: It is emphasized that hypogastric artery ligation is indicated if (1) life-threatening pelvic hemorrhage cannot be controlled by conservative methods, (2) prophylactic reduction of pelvic blood flow is needed, (3) during the management of uncontrollable massive hemorrhage, preservation of reproductive functions and/or female identity is desirable. Ligation of the hypogastric artery has proven to be a safe and usually effective method. This easy-to-acquire technique should be practiced by most gynecologists and should be an integral part of obstetric and gynecological training.

Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops: a case report.

BACKGROUND: Noonan syndrome is a very rare disorder; its prevalence is 1/1,000-2,500 births. The special facial features, short stature, eventual cardiac anomalies and familiar history are the most important characteristics of the diagnosis. CASE: A Noonan syndrome patient delivered a healthy infant after a complicated delivery. The delivery followed 3 unsuccessful pregnancies. The previous pregnancies were terminated before the 24th gestational week because of general fetal hydrops as well as other malformations. CONCLUSION: In the prenatal care of a patient with Noonan syndrome the genetic and obstetric aspects are equally important. In establishing the diagnosis, ultrasonography is of utmost importance. As in our case, complications after cesarean section highlight the higher risk of delivery in women with Noonan syndrome.

Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly.

The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.

[Cytogenetic exploration of fetal ultrasound anomalies]. / Ultrahangvizsgálattal észlelt magzati anomáliák citogenetikai feltárása.

AIMS: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in first and second trimester. METHODS: In this study authors investigate the chromosome abnormalities detected in cases with prior abnormal ultrasound findings. During a ten-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The invasive intervention was genetic amniocentesis in 1619 cases and chorion villus sampling in 288 cases. RESULTS: Karyotyping revealed 103 cases (5.4%) with chromosome abnormalities. Abnormalities with subcutaneous oedema were examined: abnormal karyotype was found in 20% of cases with non-immune hydrops, 48.1% of cases with cystic hygroma, and 53.8% of cases with non-immune hydrops and cystic hygroma altogether, 8.3% of cases with nuchal oedema in the 1st trimester, and 5.5% in the 2nd trimester. The incidence rate of chromosome abnormalities in cases with cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts, and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart; isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings the incidence rate of chromosome abnormalities were 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence rate of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence rate of the chromosome abnormalities was 1%. In cases of bilateral pyelectasis, or pyelectasis associated with other anomalies, the incidence rate was 3%. In terms of anomalies of the abdominal wall and the abdomen; the incidence rate of association with chromosome abnormalities was 9.5% in cases with omphalocele, 11.8% in cases with duodenal atresia, and 5.7% in cases with echogenic bowel. In cases with short femur and humerus the rate of abnormal karyotype was 16%. CONCLUSIONS: Ultrasound plays important role in prenatal screening and diagnostics. In cases with positive ultrasound findings, the performance of karyotyping is reasonable.

Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy.

OBJECTIVE: To evaluate factors influencing parental decisions toward continuing or terminating a pregnancy with prenatal diagnosis of sex chromosome aneuploidy. METHODS: We reviewed the records of patients with fetuses with sex chromosome aneuploidy between 1990 and 2001. A questionnaire survey of women who chose to terminate such pregnancies was designed to examine aspects of their decision-making process. RESULTS: Forty-nine of 89 pregnancies with sex chromosome aneuploidy were terminated (termination rate 0.55; 95% confidence interval 0.45-0.65). Pregnancies with abnormal ultrasound findings (14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and with nonmosaic karyotypes (30/48, 63%) were terminated significantly more often than pregnancies with normal ultrasound findings (35/73, 48%; P <.01), with 47,XXX or 47,XYY karyotypes (4/12, 33%; P <.05), and with mosaic karyotypes (5/25, 20%; P =.01). There was a trend (P =.136) toward a lower rate of termination from 67% to 36% across time, with a significant decrease from 67% to 7% in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes (P <.01), and no change in cases with 45,X and 47,XXY karyotypes (67% compared with 69%; P = 1.0). Abnormal sexual development and infertility were the greatest parental concerns related to termination. CONCLUSION: Fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility.

[Genetic amniocentesis in twin pregnancy--experience of eleven years]. / Genetikai amniocentesis ikerterhességben--11 év tapasztalata.

AIMS: Genetic amniocentesis is the most commonly used method for the diagnosis of genetic disorders of the fetus. PATIENT AND METHODS: The authors give an account of their experiences on genetic amniocentesis performed in almost 200 cases of twin pregnancies in the last eleven years. They examined the outcome of the pregnancies, the fetal loss, the distribution of the deliveries, the perinatal mortality data and the technical aspects of the procedures. The control group included twin pregnancies not undergoing genetic amniocentesis. RESULTS: The authors found that the spontaneous fetal loss between the 18th and 24th gestation weeks is 2.39%. After genetic amniocentesis this rate is 3.87%. According to their results this light increase in fetal loss is non significant. CONCLUSIONS: The results suggest that beyond the 5th week after genetic amniocentesis the fetal loss can not be concluded as a result of the procedure. Regarding the outcome of the pregnancies they suggest, that the procedure should be done around the 18th gestation weeks. In their experience the procedure did not affect the perinatal mortality data.