Ákos Csaba

Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute

This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, between July 1, 1990 and June 30, 2005. The observed period was analyzed in two parts. The pre‐ and postnatal examinations verified CDH in 100 cases, 71% of which were associated with other malformations. In 52% (37/71) CDH was diagnosed before the 24th week of gestation. The rate of early diagnosed cases doubled in the second period. Ten percent (7/71) of cases were verified postnatally. Between 1990 and 1997, the percentage of right‐sided hernia was 6% (2/34) while in the second period it was 19% (7/37). The association with cardiovascular, chest, and craniofacial anomalies doubled in the second period, while association of central nervous system anomalies halved. Chromosome anomalies were verified in four cases. Pregnancy was terminated in 53% (34/64) and 13% (4/30) of newborn infants survived the perinatal period. Intrauterine or intrapartum death occurred in 8% (5/64) of cases. The prevalence of cardiovascular, pulmonary, and craniofacial anomalies doubled, while that of central nervous system malformations decreased. The prevalence of other associated malformations has not changed significantly between the two periods. The improvement of technical facilities and accumulated experience make it possible to identify a higher number of associated malformations before the 24th week of gestation.

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.

Correlation of Prenatal Sonographic Diagnosis and Morphologic Findings of Fetal Autopsy in Fetuses With Trisomy 21

The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21.

Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops

Introduction: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. Material and Method: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Results: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. Discussion: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. Conclusions: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.

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.

Major Diagnostic and Pathological Features of Iniencephaly Based on Twenty-Four Cases

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients’ history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum α-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography.

Is misoprostol safe for labor induction in twin gestations

Objective. To compare the safety and efficacy of intravaginal misoprostol to oxytocin for the induction of labor in twin gestations. Methods. All twin gestations that underwent induction of labor with misoprostol or oxytocin during a 4-year period were identified from the Mount Sinai obstetrical database. Only twins ≥34 weeks with a vertex presenting twin A were included. Labor and delivery characteristics, maternal complications and neonatal outcomes were compared between the two groups. Results. Of 134 patients with twins, 57 initially received misoprostol and 77 received oxytocin. These groups had similar demographics, but women who received misoprostol had less cervical dilation (0.8 vs. 2.2 cm, p < 0.0001) and were less likely to be multiparous (19% vs. 44%, p = 0.003). There was a shorter length of induction to delivery (7.8 hours vs. 15.1 hours, p = 0.001) and a trend toward a lower cesarean section rate (16.9% vs. 31.6%, p = 0.06) in the oxytocin-only group. There were no cases of uterine rupture or maternal mortality in this series. There were no significant differences in neonatal outcomes between the two groups, but the sample size was underpowered to detect significant differences between the groups. Conclusions. Misoprostol and oxytocin both appear to be safe and efficacious for use in inductions of labor in twins in this limited retrospective investigation. The safety of these agents with regard to neonatal outcomes should be confirmed by larger studies.

Comparison of prevalence of toxoplasma and cytomegalovirus infection in cases with fetal ultrasound markers in the second trimester of pregnancy

To evaluate the prevalence of toxoplasma and cytomegalovirus (CMV) infections in cases of ultrasound anomalies detected in the second trimester of pregnancy.

Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant.

Schizencephaly is a congenital migrational anomaly resulting in a cleft in the cerebral hemisphere. In polymycrogyria, which is also a migrational disorder, the gyri are numerous and small, with proliferation of secondary and tertiary sulci. Agenesis of corpus callosum (partial or complete) is a relatively frequent malformation that can be associated with migrational anomalies and other brain malformations (Whitaker, 1996).

Positive predictive value of prenatal ultrasonography confirmed by post-mortem investigations.

OBJECTIVE To analyse the positive predictive value of ultrasonography based on the results of post-mortem investigations in respect of the most common malformations. STUDY DESIGN We processed the details of 683 cases affecting the nervous, cardiovascular, urinary and skeletal systems, and the abdominal/thoracic walls. RESULTS In four of the investigated groups of malformations, the proportion of sonographic diagnoses completely coinciding with the post mortem results was found to be approximately 70%, but it was found to be much lower (32%) in urinary malformations. The cumulative proportion of coinciding sonographic and post mortem diagnoses was 63%, while completely incorrect ultrasonographic diagnoses amounted to 17%. CONCLUSIONS Sonography is an essential method for the diagnosis of the majority of fetal malformations, but post-mortem examinations yield an indispensable quality control as well as additional information to ultrasound examinations.