In accordance with the wide morpho logical variety of pathologic kinds of cystic renal changes, which differ from each other both anatomically and genetically (classification effected after Potter) characteristic ultrasonic images can be defined . For the first time , it has been possible to establish sonographically an early manifestation of the "adult" type III of poly cystic renal degeneration , in one caseon the first day of the 20th pregnancy week

Pure trisomies of the whole long arm of chromosome I are extremely rare and have been reported only once in association with mosaicism. We report on a malformed foetus with mosaic trisomy 1 p 11 to 1 qter whose clinical features were partially in accordance with those of previously described trisomy 1q patients. An additional long arm of chromosome I was translocated onto 14p 11.2 (karyotype: mos46,XYder(14)t(1:14)(p11:p11.2)/46,XY). Mosaic formation of the partial trisomy I was investigated in seven different somatic tissues of first and second trimester pregnancy. The distribution of the pathologic cells was unequal, ranging from 4 to 93%. The duplicated region was paternal in origin. We were able to delineate two possible complex formation mechanisms involving paternal meiosis and postzygotic mitoses.

OBJECTIVE:To assess the value of a cardiovascular profile score in the surveillance of fetal hydrops.METHODS:In a retrospective study, 102 hydropic fetuses were examined between 15 and 37 completed weeks of gestation with ultrasonographic assessment of hydrops, heart size, and cardiac function, and arterial umbilical and venous Doppler sonography of the ductus venosus (DV) and the umbilical vein (UV). A cardiovascular profile score (CVPS) was constructed by attributing 2 points for normal and taking away 1 or 2 points for abnormal findings in each category. The score of the final examination prior to treatment, delivery, or fetal demise was compared to the fetal outcome in these 102 fetuses after exclusion of terminated pregnancies. The scores of the first and last examinations were compared in 40 fetuses and the relationship between these scores and the evolution of fetal hydrops and fetal outcome was assessed.RESULTS:Twenty-one pregnancies were terminated (21%). Fifty-four of the remaining 81 hydropic fetuses survived (67%) and perinatal death (PNM) occurred in 27 fetuses (33%). The median CVPS was 6.0 (IQR 4.75-8.00) for all fetuses, with a median of 6.0 (IQR 5.00-6.00) in fetuses who died in the perinatal period compared to a median of 7.0 (IQR 4.00-8.00) in those who survived (p < 0.035). All fetuses in this study had a 'severe' form of hydrops with skin edema. The best predictor for adverse outcome was the venous Doppler sonography of UV and DV, in particular umbilical venous pulsations. Among fetuses included in the longitudinal arm of the study, the survival rate was 40% and the PNM was 60%, after exclusion of terminated pregnancies. CVPS increased by a median of 1 (IQR 0.00-2.00) point in the last exam for those fetuses that lived, whereas among those fetuses that died, the CVPS decreased by a median 1.5 (IQR 0.25-2.75) points (p < 0.001).CONCLUSIONS:The fetal cardiovascular profile score can be used in the surveillance of hydropic fetuses for prediction of the presence of congestive heart failure and as an aid for predicting fetal outcome.

OBJECTIVE:The purpose of this study was to evaluate the accuracy of the prenatal diagnosis of left isomerism and to assess possible diagnostic and prognostic markers.METHODS:We conducted a retrospective review of all previously unpublished cases of left isomerism diagnosed in the prenatal and postnatal periods in 2 tertiary referral centers in Germany over 15 years.RESULTS:Among 34 fetuses, 31 had a correct prenatal diagnosis of left isomerism; 31 had an interruption of the inferior vena cava with azygos continuation; 22 had different types of viscerocardiac heterotaxy; 13 had heart block; and 28 had cardiac defects, with a high prevalence of atrioventricular septal defects (n = 24), right outflow tract obstruction (n = 11), double-outlet right ventricles (n = 6), and anomalous pulmonary venous return (n = 6). Among the 34 cases, 9 underwent termination of pregnancy; 2 fetuses died in utero; 5 children died in the neonatal period; and 4 children died in infancy. Only the presence of heart block and hydrops was significantly correlated with nonsurvival (P < .05). Fourteen children survived, with a mean follow-up +/- SD of 2.9 +/- 2.6 years. Three survivors underwent single-ventricle palliation, and 1 had successful biventricular repair. Three children were awaiting cardiac repair. The remaining 7 children had minor or no associated cardiac defects and were doing well.CONCLUSIONS:Prenatal diagnosis of left isomerism is feasible, with high accuracy. Important diagnostic pointers are viscerocardiac heterotaxy, complex cardiac malformations, heart block, and interruption of the inferior vena cava. The mortality in fetuses and neonates is high in the presence of heart block and hydrops, whereas the cardiac defects influence the long-term outcome.

Methode: Beobachtung von 20 Feten mit abnormalem venösen System. Das Fehlen (1)oder Vorhandensein (2) des Ductus venosus (DV), wurde mit der Entwicklung von Portal-(PV) und Lebervenen (HV), arterieller Durchblutung und Echodichte der Leber, Fehlbildungen, Hydrops und Outcome korreliert.

To assess the value of venous Doppler sonography in the surveillance of hydropic fetuses. Design: Venous Doppler sonography was performed in 74 hydropic fetuses from the 15 till 37 weeks of gestation. The velocimetries of the right hepatic vein (HV), the ductus venosus (DV) and the umbilical vein (UV) were examined. The peak velocities at different parts of the heart cycle, S-A/S ratio, Pulsatility-Index for veins and reversed flow in late diastole were determined in the precordial veins. The quantitative flow and the presence of pulsations in the umbilical vein were also registered. The final examination prior to treatment, delivery, fetal demise or termination of pregnancy was evaluated. 36 of 74 fetuses (49%) died, perinatal death occurred in 30% and termination of pregnancy in 19%. Hydropic fetuses had significant decreased peak velocities during the cardiac filling, significant decreased flow during atrial contraction and significant increased impedance indices (PIV, S-A/S ratio) in the precordial veins than normal (p < 0.05). Reversed flow in the ductus venosus was seen in 8% and pulsations of the umbilical vein in 50%. The umbilical flow was increased significantly. The venous velocimetry was more abnormal, if insufficiency of atrioventricular valve or venous pulsations were present. The best predictor for adverse fetal outcome was double umbilical venous pulsations. Venous Dopplersonography can be used in the prediction of outcome in hydropic fetuses.

To assess the value of a cardiovascular score in the surveillance of fetal hydrops. 78 hydropic fetuses were examined from the 15 till 37 weeks of gestation with ultrasonographic assessment of the hydrops, heart size, cardiac function, arterial umbilical and venous Doppler sonography of the right hepatic vein (HV), the ductus venosus (DV) and the umbilical vein (UV). The flow in late diastole and the presence of umbilical venous pulsations were registered particularly in the latter. Each of the 5 groups were scored with 2 points for normal and 1 or 0 points for abnormal findings. Causes of fetal hydrops were also divided in 5 patho-physiological groups. The final examination prior to treatment, delivery, fetal demise or termination of pregnancy was evaluated. 44 of 78 hydropic fetuses survived (56%) and 34 (44%) died, perinatal death occurred in 26% and termination of pregnancy in 18%. The best outcome was seen in cases with high output heart failure, obstruction of venous return and idiopathic hydrops. The cardiovascular score was in general low, with a mean value of 6.1 (range 1–9) in all, of 6.5 (range 3–9) in survivors, of 5.6 (range 1–9) in abnormal outcome, of 5.4 (range 1–9) in perinatal mortality and of 5.8 (range 4–8) in termination of pregnancy. A significant difference in the score could not be found between normal and adverse outcome, but the score gave prognostic hints. The best predictor for adverse fetal outcome was umbilical venous pulsations. Cardiovascular score can be used in the prediction of outcome in hydropic fetuses.

Objective: To evaluate the contribution of prenatal MRI for the analysis of vascular cerebellar lesions. Methods: Retrospective study in the last ten years of 9 MRI cases. MRI results were compared with ultra-sound and pathology in five cases. Results and conclusion: MRI morphological abnormalities, which were favouring cerebellar vascular lesions were: unilateral hemispheric hypoplasia, unilateral hemispheric cleft, signal heterogeneity, irregular margins. Pathology confirmed vascular etiology whenever it was done. These morphological abnormalities of the cerebellum on the MRI should suggest a vascular mechanism. In those cases, underlying conditions must be looked for (placental anomalies, fetal distress, thrombophilia).

OBJECTIVE: Fetuses with severe combined immunodeficiency may be treated with intrauterine transplantation of fetal hematopoietic stem cells. In previous reports on intrauterine transplantation with T-cell-depleted bone marrow, repeated injections have led to partial immuno reconstitution at birth, with subnormal T-cell counts and a delayed response to mitogens.STUDY DESIGN: A male fetus with X-linked severe combined immunodeficiency because of a stop mutation in the gene encoding the common gamma chain of cytokine receptors was transplanted in week 14 of gestation with a single injection of 7 X 10(7) cryopreserved nucleated fetal liver cells (9 X 10(8) cells per estimated kilogram fetal weight) into the fetal abdomen. At 24 and 33 weeks of gestational age, fetal blood samples were taken to detect evidence of engraftment. Fetal mixed chimerism was determined using polymerase chain reaction amplification of a variable number of tandem repeats and was verified by genomic HLA class II typing and flow cytometry.RESULTS: The course of pregnancy, delivery, and the first 18 months of life have been uncomplicated. At week 24 of gestation, donor HLA class II alleles were detected at a low level in the background of the recipient's fetal HLA genotype. The chimeric proportion of donor cells was about 10% at 24 weeks, of gestation, increasing to 50% at 33 weeks of gestation. Whereas the T-cell fraction was still markedly reduced in week 24, it increased thereafter and was in the normal range from week 33 of gestation. In vitro response to T-cell mitogens was normal from birth.CONCLUSION: In utero transplantation of cryopreserved fetal liver cells in week 14 of gestation with a single injection led to complete T- and NK-cell reconstitution at birth. Signs of engraftment were found already in week 24 of gestation. We consider intrauterine transplantation a valuable experimental method and a useful adjunct to postnatal transplantation and gene therapy in the treatment of severe combined immunodeficiency.

A complex chromosome rearrangement (CCR) with eight breakpoints resulting in four derivative chromosomes (4, 11, 12 and 13) was detected prenatally in a male fetus of a twin pregnancy. The karyotype of the female second fetus was normal. The apparently balanced de novo CCR was identified by classical cytogenetic methods and fluorescence in situ hybridization (FISH). We compared these findings with results from spectral karyotyping (SKY).

We present cytogenetic and clinical data on 38 patients with supernumerary marker chromosomes (SMCs). SMCs were characterized using a strategy combining classical banding techniques and molecular cytogenetic studies. Cases were ascertained prenatally, postnatally, and after fetal death. In 26 patients (68%), the SMC originated entirely from acrocentric chromosomes. Among these, most patients carried a der(15). In 11 patients (29%), they were of nonacrocentric origin, including 9 autosomal and 2 gonosomal marker chromosomes. In 1 patient the SMC was of partially acrocentric origin. Patients with small derivatives of chromosome 15 [der(15)] had a normal phenotype. Those with a larger der(15) showed phenotypical abnormalities. Patients with supernumerary marker chromosomes derived from chromosomes 13 or 21, and 14 appeared to have a low risk of abnormalities. Out of this group only 1 patient who carried an additional r(21) had physical anomalies. Patients with an SMC originating from chromosome 22 showed physical abnormalities in 2 out of 6 cases. Supernumerary marker chromosomes identified as i(9p), i(12p), and der(18) were all associated with an abnormal phenotype. Two of the derivatives of chromosome 20 analyzed were correlated with a normal phenotype, while the carrier of the third one showed physical anomalies and motor retardation. Of 2 patients with an extra der(X), 1 was normal and 1 showed an abnormal phenotype.

Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12p) was analysed in various tissues. The isochromosomes were characterised by conventional banding technics and fluorescence in situ hybridization (FISH). In the first case, diagnosed prenatally, 4 different tissues were analysed. A direct preparation of chorionic villi (21 gestational weeks) showed an extra marker chromosome in 19% and two additional copies in 3% of the examined cells. In two cultures of amniocytes (17 and 21 weeks), the i(12p) was observed in 23% and 12%, respectively. It was absent in cultured lymphocytes of fetal blood (21 weeks). The fibroblast long-term culture of umbilical cord showed the i(12p) in 100% of metaphases. In the second case of a term infant the i(12p) was diagnosed in cultured lymphocytes (4%) and fibroblasts (93%). Secondary loss of the isochromosome was evaluated by in vitro selection in case 2 analysing metaphases and interphases of fibroblasts in the 1st, 4th and 5th subculture using FISH. The proportion of cells with i(12p) decreased from 93% to 40% and to 28%, respectively. DNA analysis in case 1 showed a maternal meiotic origin of the i(12p). The prenatally detected clinical findings in both cases showed characteristic abnormalities of the Pallister-Killian syndrome.

PURPOSE:Prenatal plasma concentrations of erythropoietin in fetuses with Rh disease should contribute information to the clinical course and therapeutic control of this disease. METHOD:Fetal plasma erythropoietin (Epo) and haemoglobin (Hb) concentrations were measured in 145 umbilical venous blood samples of 30 fetuses with Rh disease at 20 to 38 weeks' gestation. RESULTS:Both Epo and Hb concentrations were independent of the gestational age in red blood cell-isoimmunised pregnancies. The Hb concentration correlated significantly with Epo concentration without intrauterine transfusion (IUT) (r = -0.519, p = 0.005) and after IUT (i = -0.212, p = 0.01). A haemoglobin deficit of 3 g/dl at 20 weeks' gestation increased to 6 g/dl at 38 weeks' gestation in spite of IUT (p = -0.354, p < 0.001). CONCLUSION:Even with IUT, Epo concentrations increase with gestational age during these pregnancies. This is due to increasing Hb deficits indicating fetal hypoxia which might be prevented by increasing volumes of transfusion.

Purpose: Prenatal plasma concentrations of erythropoietin in fetuses with Rh disease should contribute information to the clinical course and therapeutic control of this disease. Method: Fetal plasma erythropoietin (Epo) and haemoglobin (Hb) concentrations were measured in 145 umbilical venous blood samples of 30 fetuses with Ph disease at 20 to 38 weeks' gestation. Results: Both Epo and Hb concentrations were independent of the gestational age in red blood cell-isoimmunised pregnancies. The Hb concentration correlated significantly with Epo concentration without intrauterine transfusion (IUT) (r = -0.519, p = 0.005) and after IUT (r = -0.212, p = 0.01). A haemoglobin deficit of 3 g/dl at 20 weeks' gestation increased to 6 g/dl at 38 weeks' gestation in spite of IUT (p = -0.354, p<0.001). Conclusion: Even with IUT, Epo concentrations increase with gestational age during these pregnancies. This is due to increasing Hb deficits indicating fetal hypoxia which might be prevented by increasing volumes of transfusion.

Ultrasound in Obstetrics & GynecologyVolume 1, Issue 5 p. 305-306 EditorialFree Access The fetus as a patient: the fetus as a person? Manfred Hansmann, Manfred HansmannSearch for more papers by this author Manfred Hansmann, Manfred HansmannSearch for more papers by this author First published: 1 September 1991 https://doi.org/10.1046/j.1469-0705.1991.01050305.xCitations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume1, Issue51 September 1991Pages 305-306 RelatedInformation