[Prenatally detected aortic arch anomalies and their consequences after birth]. / Praenatalisan felismert magzati aortaív-rendellenességek és megszületés utáni következményeik.

INTRODUCTION: Aortic arch anomalies are frequently associated with cardiac or extracardiac malformations, chromosomal aberrations and postpartum esophagus/trachea compression. OBJECTIVE: We aimed to establish the prevalence of associated cardiac and extracardiac malformations, the frequency of chromosomal aberrations in fetuses with the diagnosis of aortic arch anomalies and to assess the pregnancy and the postnatal outcome. METHOD: Retrospective cohort study of all fetuses with aortic arch anomalies and genetic diagnosis in a tertiary referral obstetric and fetal cardiology centre between 2016 and 2020. Postpartum data were collected within 24 months after birth. RESULTS: In a cohort of 11.380 pregnant women, the prevalence of aortic arch anomalies was 0.25%. Among 28 cases of right aortic arch anomalies, in 27 fetuses prenatal genetic diagnosis was available. We diagnosed 4 fetuses with mirror-image branching (right sided V-sign) and 23 fetuses with U-sign (4 fetuses with complete double aortic arch). 18 cases (66%) were isolated. Associated anomalies were cardiac in 3 cases and extracardiac in 7 cases (33%). The most frequent cardiac anomaly was tetralogy of Fallot (2/27), the extracardiac anomalies were thymus hypoplasia, single umbilical artery and subclavian artery malformations. In 1 case (3.7%), fluorescent in situ hybridization diagnosed 22q11.2 microdeletion. 75% of fetuses with right sided V-sign were associated with conotruncal malformations. Pregnancy and postpartum outcome were known in 24 pregnancies. Postnatal diagnosis was different from prenatal in 2 cases, the concordance rate was 93%. Isolated cases resulted in live birth in 17/18 pregnancies (93%). The frequency of postpartum trachea/esophagus compression was 42,9% (9 cases) due to vascular ring, in 6 children (28,6%) operation was necessary. CONCLUSION: Fetal aortic arch anomalies are multidisciplinary diseases to be diagnosed by proper prenatal ultrasound examination. Associated fetal anomalies necessitate extended obstetric and cardiac sonography, invasive prenatal testing should be offered, and thorough postnatal long-term follow-up is recommended. Orv Hetil. 2023; 164(28): 1111-1120.

Effectiveness of fetal ultrasound diagnostics in cardiac malformations and association with polyhydramnios and oligohydramnios.

BACKGROUND: Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and oligohydramnios. METHODS: We examined the fetal ultrasonography and postnatal clinical/fetopathological data of 372 newborns/fetuses over a 7-year period in a tertiary centre. Fetal echocardiography was performed in cases of suspected US findings between 18-32 weeks. During the ultrasound the amniotic fluid amount was measured and the amniotic fluid index (AFI) or largest amniotic fluid pocket was determined. RESULTS: Prenatal ultrasonographic results and postnatal/fetopathological diagnosis were fully congruent in 236/372 cases (63.4%), and in 66/372 cases of cardiovascular anomalies (17.7%) the discovery was partial, while in 70/372 cases no fetal cardiovascular anomalies were diagnosed during pregnancy (18.8%) (false negative). Cardiovascular malformations were isolated in 255 cases, in 172 of which (67.5%) the results of prenatal ultrasonography and postnatal diagnostics were fully congruent. In 43 cases (16.9%) the prenatal discovery was partial, and in 40 cases (15.7%) there was no prenatal recognition of the malformation. Cardiovascular abnormalities were found as a part of multiple malformations in 76 cases. In 41 fetuses the cardiovascular malformation was associated with chromosomal abnormalities. Cardiovascular malformations were significantly associated with polyhydramnios. Although in some of the cardiovascular malformations the association rate with polyhydramnios was high (AVSD, double outlet right ventricle, tetralogy of Fallot), we found a moderate association rate (19.7%). The association with oligohydramnios was 8.57%. CONCLUSIONS: Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.

Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period.

Prenatal testing has changed greatly over the past two decades, which may affect the diagnosis of congenital heart disease (CHD) in Down syndrome. The present study aimed to analyze changes in the prevalence and distribution of CHD diagnosed via ultrasonography and fetopathology in 462 fetuses with trisomy 21 between two consecutive 10-year periods (1999-2018), as well as the associations between CHDs, ultrasound markers, and extracardiac malformations. Overall, the frequency of cardiovascular malformations in trisomy 21 was 27.7 and 26.5%, and ultrasound identified 70 and 62% of CHDs during these periods. A profound increase in first-trimester ultrasound findings and associated anomalies with CHDs (ventricular septal defect, Tetralogy of Fallot) since 2009 were observed. Second-trimester nonstructural heart abnormalities were associated with ultrasound anomalies (74%) and major extracardiac malformations (42.9%). During both study periods, mothers carrying fetuses with CHD were significantly younger than those without CHD (p = 0.038, p = 0.009, respectively). Comparing the two 10-year periods, there were no changes in the prevalence and detection of CHDs. Trend analysis revealed that, although the frequency of CHD remained stable, the diagnostic spectrum had shifted between the study periods. Detection of nonstructural heart abnormalities necessitates detailed follow-up for cardiac/extracardiac malformations and chromosomal disorders.

Immune cell subsets, cytokine and cortisol levels during the first week of life in neonates born to pre-eclamptic mothers.

PROBLEM: To address the hypothesis that pre-eclampsia (PE) impacts the fetal immune system, we investigated the prevalence of distinct immune cell subsets along with plasma cortisol and cytokine levels in pre-term newborns of PE mothers. METHOD OF STUDY: Cord blood and peripheral blood samples on the 1st, 3rd and 7th postnatal days of life were collected from 14 pre-term infants affected by PE and 14 non-PE pregnancies. We measured plasma cortisol and cytokine levels with immunoassays and assessed the prevalence of T, NK and DC subsets using flow cytometry. RESULTS: The prevalence of CD4+ cells was lower in PE infants, while that of memory T cells was higher. Myeloid DCs had a lower prevalence in PE neonates. Cytokine and cortisol levels were lower in PE neonates. CONCLUSION: Our observations show that PE pregnancies are associated with altered newborn immune status during the first week of life.

Plasma vitamin D levels at birth and immune status of preterm infants.

BACKGROUND: Vitamin D has an important immunomodulatory role. We investigated whether vitamin D levels at birth may associate with immune status in preterm infants. METHODS: Cord blood samples were collected from 28 preterm infants born ≤30 weeks of gestation. Infants were divided into groups below and above median vitamin D level. We measured plasma cortisol and cytokine levels and also assessed the peripheral prevalence of distinct immune cell subsets using flow cytometry. The mixed effect model was used to analyse the effects of vitamin D, plasma cortisol levels and gestational age on cytokine levels and immune phenotype. RESULTS: Vitamin D level in our cohort was 23.3 [9.9-45.4]ng/ml (median [range]). In infants with vitamin D level below the median the prevalence of CD4+ CXCR3+ (Th1) and CD8+ CXCR3+ cell subsets was higher, while the prevalence of CD4+ CCR4+ (Th2), CD8+ CCR4+ and plasmacytoid dendritic cell (pDC) subsets was lower than in those with vitamin D level above median. pDCs and Th2 lymphocytes were the only cell subsets which were only influenced by vitamin D levels, but not by plasma cortisol and gestational age. No association between vitamin D level and any of the tested plasma cytokine levels was detected. CONCLUSIONS: Vitamin D levels may together with cortisol levels and gestational age have an effect on Th1/Th2 balance and the prevalence of plasmocytoid dendritic cells in the preterm newborn.

Expression of lymphocyte activation markers of preterm neonates is associated with perinatal complications.

BACKGROUND: Inappropriate activation of T lymphocytes plays an important role in perinatal complications. However, data on T lymphocyte activation markers of preterm infants is scarce. We investigated the association between gender, gestational and postnatal age, preeclampsia (PE), premature rupture of membranes (PROM) as well as prenatal steroid treatment (PS) and the frequency of activated T lymphocyte subsets (HLA-DR+, CD69+, CD25+, CD62L+) and major T lymphocyte subpopulations (CD4, CD8, Th1, Th2, naïve, memory) in peripheral blood during the first postnatal week in preterm infants. RESULTS: Cord blood and peripheral blood samples were collected from 43 preterm infants on the 1st, 3rd, and 7th days of life. We assessed the frequency of the above T lymphocyte subsets using flow cytometry. The 'mixed effect model' was used to analyze the effects of clinical parameters on T lymphocyte markers. The frequency of CD25+ T lymphocytes was higher in PROM. The frequency of CD4+ and CD8+ cells and the CD4+/CD8+ cell ratio was decreased in PE. The frequency of CD62L+ T lymphocytes was higher in male compared with female infants. PS did not affect the frequency of the investigated markers. CD4+ CD25+ cells had a lower frequency at birth than on day 7. Th2 lymphocytes had a lower frequency on postnatal days 1 and 3 when compared to day 7. CONCLUSIONS: Our observations indicate that alterations affecting the expression of T lymphocyte activation markers are associated with the above factors and may play a role in the development of perinatal complications.

Incidence and causes of maternal thrombocytopenia in triplet gestation.

OBJECTIVE: To determine the incidence, clinical significance and causes of maternal thrombocytopenia in triplet gestations. STUDY DESIGN: The study population consisted of 150 patients with triplet gestation that delivered at our department between 1990 and 2008. Thrombocytopenia was defined as a platelet count <150,000/µL. Patients were classified on the basis of the lowest recorded platelet count observed during pregnancy. RESULTS: A low platelet count was observed during the triplet gestation in 36 cases (24.0%), and after delivery in another 19 cases (12.7%). Thrombocytopenia was mild, moderate, and severe in 75% (27/36), 16.7% (6/36), and 8.3% (3/36) of the cases, respectively. During pregnancy, thrombocytopenia was associated with pregnancy-induced hypertension in 25.0% (9/36) of patients, while gestational thrombocytopenia was diagnosed in 72.2% of the cases (26/36). The mean platelet count showed a strong negative correlation with gestational age (r=-0.953, P<0.001), and at 36 weeks approached the limit of thrombocytopenia. CONCLUSIONS: Thrombocytopenia occurs more frequently in triplet gestations than in the general pregnant population, and the rate of moderate and severe forms is higher. The distribution of causes is comparable to that of the general pregnant population. The average platelet count in triplet gestations decreases with gestational age.

Clinical microbiology of neonatal candidiasis in Hungary.

The occurrence of Candida spp. was investigated during a three-year period in two neonatal intensive care units, Budapest, Hungary. The species distribution among the 41 analysed cases was the following: C. albicans (30/41, 73%), C. parapsilosis (10/41, 24%) and C. glabrata (1/41, 3%). All of the isolates were susceptible to the tested drugs. There was a significant difference in the birth weight, the gestational age <30 weeks and the occurrence of caesarean section between the C. albicans and the C. parapsilosis groups of the cases. Respiratory tract colonization was the same (76-77%) in the extremely low birth weight (ELBW) and the very low birth weight (VLBW) groups. Comparing the ELBW, VLBW, and >1500 g birth weight groups, significant difference was found in the parenteral nutrition, the gestation weeks <36 or <30, the polymicrobial infection and the transfusion. The ratio of C. albicans, C. parapsilosis and C. glabrata was 9:7:1 in ELBW group; 6:3:0 in VLBW group and 15:1:0 in >1500 g group. The mortality rate for C. parapsilosis was higher than for C. albicans.

[Severe circulatory insufficiency in a patient with neonatal hyperthyroidism]. / Súlyos keringési elégtelenséggel járó neonatalis hyperthyreosis.

Authors describe a case of a premature infant whose mother had a history of thyroidectomy due to Graves' disease and her hormonal status was not controlled during pregnancy. She did not receive prenatal care and on 33rd week the premature infant was delivered by emergency cesarean section because of fetal tachycardia and imminent intrauterine asphyxia. The infant with a weight of 1350 gram (percentile <10) was dysmature and had a large struma. The newborn received both conventional and high frequency ventilation for respiratory insufficiency and was treated with beta-blocker, digoxin and dobutamine for severe tachycardia (>180/min) and cardiac decompensation. Further examinations proved cardiomegaly, pericardial fluid, severe pulmonary hypoplasia, mitral- and tricuspid insufficiency and hepatosplenomegaly. The level of free thyroid hormones was several times higher than normal (fT4: > 6 ng/dl, fT3 > 30 pg/ml), while TSH level was 0. Respiratory support was required for 7 days, inotropic support for 10 days; at the same time propranolol and K-iodide were administered. Eventually, the tachycardia settled and beta-blocker therapy was continued with reduced doses. Finally, the thyroid hormone levels became normal. Authors emphasize that newborns of women suffering from Graves' disease can significantly lag behind in weight increase, may have severe circulatory insufficiency and symptoms of thyrotoxicosis. We also emphasize the importance of the monitoring maternal hormone levels and antibody titers.

[Pentalogy of Cantrell: six new cases]. / Cantrell-pentalógia: a praenatalis felismerés lehetoségei hat saját eset kapcsán.

UNLABELLED: Cantrell's pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation. AIMS AND METHODS: Prenatal ultrasound findings and malformations described during autopsy of the Cantrell's pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell's pentalogy cases. RESULTS: Six cases of Cantrell's pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell's pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively). CONCLUSION: Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell's pentalogy from malformations part of the syndrome but occurring as isolated defects.

Published genetic variants in retinopathy of prematurity: random forest analysis suggests a negligible contribution to risk and severity.

PURPOSE: Our recent investigations suggested association between severe retinopathy of prematurity (ROP) and some genetic polymorphisms contributing to angiogenesis. While these findings may help to identify specific elements in ROP pathogenesis, the predictive value of these genetic variants at birth is unknown. We applied a high-dimensional nonparametric method called random forest technique (RFT) to evaluate the predictive value of genetic polymorphisms in ROP at birth. METHODS: We used published genetic (i.e., VEGF T(-460)C, G(+ 405)C, and C(-2578)A; IGF-I receptor G(+ 3174)A, angiopoietin II G(-35)C; estrogen receptor PvuII Pp; and endothelial NO-synthase 27-bp b/a and T(-786)C) and birth data of 134 preterm infants without and 103 preterm infants with ROP requiring laser or cryotherapy. We used RFT to determine the relative importance scores (IS) of each clinical parameter at birth and genetic polymorphisms in the prediction of ROP. The accuracy of ROP prediction at birth was calculated when birth data, genotype data, and birth data PLUS genotype data were taken into account. RESULTS: The most important predictors of ROP were prematurity, low birth weight, intrauterine retardation, and Apgar scores with IS values between 7.46 and 13.20. IS values of genotype data were much lower in the range between 0.86 and 4.19. When birth data solely, genotype data solely, and birth data plus genotype data together were used for prediction, the accuracy of prediction was 0.653, 0.636, and 0.674, respectively. CONCLUSIONS: The tested genetic polymorphisms (including those published as significant risk factors of ROP) are not good predictors of ROP at birth.

Prenatally diagnosed fetal brain injuries with known antenatal etiologies.

Periventricular leukomalacia of pre- or postnatal onset is responsible for severe neurological and intellectual impairment and cerebral palsy later in life. The etiology is multifactorial, involving hypoxic-ischemic insults of various origin. The disorder is characterized by multiple necrotic foci of the white matter found most frequently adjacent to the lateral ventricles. In the past, intrapartum factors were thought to be the major cause of neonatal brain damage, but recent investigations highlighted the role of antenatal risk factors. We present 4 cases of antenatally diagnosed brain injury with known and unusual etiology.

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.

[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography]. / Holt-Oram-szindróma: genetikai tanácsadás és praenatalis ultrahang-diagnosztika.

Authors report the cases of the autosomal dominant Holt-Oram syndrome encountered during genetic counseling in the authors' institution between 1976 and 2005. A male patient with Holt-Oram syndrome considered the 50% risk of transmission of the disease too high, thus he decided against fathering children. Prenatal fetal ultrasonography and echocardiography were performed in two pregnant women affected with Holt-Oram syndrome. In one case the possibility of the syndrome was excluded, in the other Holt-Oram syndrome was diagnosed. In two further cases Holt-Oram syndrome was prenatally diagnosed on the basis of ultrasonography in two midtrimester fetuses from unaffected parents. In one case the cardiac and skeletal malformations proved to be so serious that the couple requested termination of the pregnancy. The pathologic examination of the fetus confirmed the prenatal diagnosis.

[Maternal age as a risk factor in triplet pregnancy]. / Az anyai életkor mint kockázati tényezo hármasiker-terhességben.

UNLABELLED: Upon the diagnosis of triplet conception, pregnant women should be counseled about the risk of triplet pregnancy and the chances of survival of triplet newborns. This information can help women with triplet gestations to make well-informed decisions whether to continue their pregnancy or to undergo multifetal pregnancy reduction. AIM: To assess the maternal age as a risk factor in a large representative sample of the Hungarian triplet population with evaluation of maternal complications and perinatal results. METHODS: In a retrospective cohort study we analyzed 114 triplet pregnancies which ended in delivery from July 1st, 1990 until June 30th, 2006. RESULTS: In the study population there were 15 patients aged 35 years or more at delivery (13.2%) and 99 women were younger than 35 years (86.8%). The rate of maternal complications was similar in the two groups, and there was no significant difference in gestational age at delivery (33.0 +/- 2.9 vs. 32.2 +/- 3.3 weeks), very early (< 28 weeks) premature deliveries (6.7% vs. 9.1%) and early (< 32 weeks) premature deliveries (32.9% vs. 43.4%), respectively, although all of these variables were more favorable over 35 years of age. The mean birth weight of live born infants (1796 +/- 492 vs. 1664 +/- 506 g, p = 0.064 g) was higher, the prevalence of very-very-low-birth-weight (< 1000 g) infants (6.8% vs. 10.7%) and very-low-birth-weight (< 1500 g) infants (34.1% vs. 38.6%) was lower in the groups of older patients. The 1- and 5-minute Apgar scores of newborns in the > 35-year group were significantly larger (8.4 +/- 0.5 vs. 8.0 +/- 1.0, p = 0.016 and 9.5 +/- 0.7 vs. 9.2 +/- 0.8, p = 0.006, respectively). There was no difference in perinatal results or puerperal complications between the groups. The incidence of sepsis/pneumonia and need for ventilation/oxygen therapy was lower among the infants of the patients over 35 years (6.9% vs. 28.6%, p = 0,011 and 31.0% vs. 58.2%, p = 0,011, respectively). The rate of other neonatal complications was similar in the two groups. CONCLUSIONS: Although the incidence of some maternal complications during pregnancy and in the puerperal period is higher at older age, the favorable perinatal results and neonatal morbidity rates make older maternal age a risk reducing (protective) factor in triplet pregnancies.

The extent to which genotype information may add to the prediction of disturbed perinatal adaptation: none, minor, or major?

Studies have been performed to describe the significance of genetic polymorphisms in complications associated with disturbed perinatal adaptation. Due to the large number of interacting factors, the results of classic statistical methods are often inconsistent. The random forest technique (RFT) is a robust nonparametric statistical approach that overcomes this problem through the calculation of the importance of each factor. We used RFT to reanalyze the importance of 24 genetic polymorphisms in the classification of preterm infants (birth weight, 680-1460 g, n = 100) to affected and unaffected groups according to the presence of acute perinatal complications. The accuracy of classification was between 0.5 and 0.8 for each complication when only birth data were considered. However, when genetic polymorphisms with the highest importance scores (ISs) were included in the analysis, the accuracy of classification according overall morbidity, necrotizing enterocolitis (NEC), acute renal failure (ARF), infant respiratory distress syndrome (IRDS), cardiac failure (CF), and patent ductus arteriosus (PDA) improved from 0.69, 0.60, 0.70, 0.72, 0.68, and 0.57 to 0.77, 0.70, 0.76, 0.77, 0.76, and 0.64, respectively. Our findings suggest that genetic polymorphisms identified by RFT as predictors may improve the risk assessment of preterm infants. RFT is a suitable tool to develop risk factor patterns in this population.

[Congenitally absent pulmonary valve--analysis of ten prenatally diagnosed cases and review of the literature]. / Az arteria pulmonalis billentyujének agenesiája - tíz, praenatálisan diagnosztizált eset elemzése és irodalmi áttekintés.

OBJECTIVES: To assess in a population of 10 fetuses diagnosed with absent pulmonary valve the incidence of associated cardiac extracardiac and chromosomal anomalies and the outcome of pregnancies. METHOD: Retrospective analysis of data of prenatally diagnosed absent pulmonary valve cases between 1 January 1993 and 31 December 2005 in Fetal Echocardiography Laboratory of Ist Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. The diagnosis was controlled with autopsy or postnatal examinations. The time of the prenatal diagnosis, indications, connected cardiac, extracardiac and chromosomal anomalies were studied. RESULTS: Absent pulmonary valve was diagnosed prenatally in 10 pregnancies. The mean gestational age at the time of the diagnosis was 23.1 weeks (18-33 weeks). In 6 cases the malformation was diagnosed before the 24th gestational week, in 4 cases after the 24th gestational week. In 6 cases pregnancies were terminated. Fetal hydrops were found in 2 cases. Among 4 continued pregnancies one intrauterine fetal demise and two neonatal death occurred, one baby was successfully operated and survived. The Botallo duct was normally developed in five cases, in this group the absent pulmonary valve was isolated at 3 fetuses, at 1 fetus absent aortic valve and at 1 fetus tricuspid valve dysplasia were diagnosed. The Botallo duct was absent in five cases, in this group at 3 fetuses tetralogy of Fallot, at 1 fetus atrioventricular septal defect and at 1 fetus subaortic ventricular septal defect were diagnosed. Extracardiac malformations associated with cardiac abnormality at 3 fetuses. The indication for fetal echocardiography was positive family history in 3 cases, abnormal four chamber view in 2 cases, suspicion of thoracal cyst in 3 cases, fetal hydrops in 1 case, extracardiac malformation in 1 case. CONCLUSION: The absent pulmonary valve is a severe malformation, the prognosis is poor and highly dependent on associated malformations. The correct early prenatal diagnosis is possible. The recurrence risk is higher than in multifactorial inheritance.

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.

Congenital lung malformations in the second trimester: prenatal ultrasound diagnosis and pathologic findings.

PURPOSE: To correlate prenatal sonographic diagnosis of cystic lung malformations with fetopathologic findings after termination of pregnancy. METHODS: We retrospectively analyzed the data of 16 terminated cases in which a cystic lung lesion was diagnosed pre- or postnatally. RESULTS: On average, prenatal diagnosis was established on the 21(st) gestational week (range, 19-26 weeks). The cause of termination was severe polyhydramnios in 4 cases, nonimmune fetal hydrops in 4 cases, other congenital malformation in 5 cases (renal malformation, 2 cases; congenital diaphragmatic hernia, 3 cases), and obstetrical conditions (intrauterine death, placental abruption, spontaneous abortion) in 3 cases. In 11 cases, congenital cystic adenomatoid malformation (CCAM) was the presumptive prenatal diagnosis. Autopsy confirmed the prenatal diagnosis in 6 of them, while in the other 5 cases, an enteric cyst, a laryngeal atresia, an unidentified tumor, a pulmonary hypoplasia, and an extralobar pulmonary sequestration were found on histologic examination. On the other hand, the autopsy revealed CCAM in those 5 cases in which other malformations were suggested prenatally. CONCLUSION: The prenatal sonographic diagnosis of CCAM is difficult. Our cases emphasize the important role of fetopathology even today in the verification of prenatal diagnosis based on sonographic examinations.

Experiences in the perinatal management of congenital diaphragmatic hernia during the last 15 years in a tertiary referral institute.

OBJECTIVE: Review of cases of perinatally diagnosed congenital diaphragmatic hernias with special regard to time of diagnosis, organs herniated into the thorax, associated malformations, and outcomes. METHODS: We analyzed the data of 106 cases between July 1, 1990, and June 30, 2005. The observation period was analyzed in two parts. RESULTS: Prenatal ultrasound was performed in 89.6% (95/106) of the cases. 51.7% (46/89) of the pre- and postnatally verified congenital diaphragmatic hernia cases were diagnosed before the 24th week of gestation. 11% (11/100) of the hernias were identified postnatally. 71% (71/100) of the cases were associated with other malformations. The hernia was on the left side in 86% (86/100) and bilateral in 5% (5/100) of the cases. Between 1990 and 1997, the proportion of right-sided hernias was 4.3% (2/46), while during the second period it was 13% (7/54). 27.5% (14/51) of the newborns survived the perinatal period. The survival rate of the newborns delivered by caesarean section was three times higher than that of infants delivered vaginally. In the latter group, the rate of premature deliveries was considerably higher. The pregnancy was terminated in 45% (40/89) of the cases. 15% (6/40) of the terminated cases were isolated. Intrauterine or intrapartum deaths occurred in 5.6% (5/89) of the prenatally diagnosed cases. Simultaneous thoracic herniation of liver, spleen, or stomach decreased the survival rate. In these cases, the discharge rate was between 6 and 22%. CONCLUSIONS: According to the analysis of 15-year data, the herniated organs, multiple malformations, as well as the mode of delivery influence the survival in a large number of cases. Early diagnosis predicts a large hernia, a higher malformation rate, and a less favourable prognosis.