A cardiovascular profile score in the surveillance of fetal hydrops.

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.

Impact of prenatal urinomas in patients with posterior urethral valves and postnatal renal function.

OBJECTIVE: Posterior urethral valves (PUV) are a common cause of lower urinary tract obstruction. Renal failure occurs in approximately one third of the cases. It is debated whether urinoma formation is a protective mechanism to reduce pressure-related impairment of renal function. The aim of our study was to determine if urinoma formation is able to preserve renal function on the side of the urinoma. METHODS: Five male patients diagnosed with posterior urethral valves and uni- or bilateral urinoma formation were reviewed. Renal function was assessed by serum creatinine level at days 4-7 and at two months, in addition to dimercaptosuccinylacid (DMSA) scintigraphy at 4-6 weeks postnatal age. RESULTS: Impaired renal function occurred unilaterally in four patients, two had bilateral urinoma formation, and the other two boys presented with unilateral urinoma, one with preserved renal function ipsilateral to the urinoma and the other on the contralateral side. Urinary ascites was detected in three patients, all underwent antenatal centesis. CONCLUSIONS: No association was found between renal function and urinoma formation in patients with PUV.

Prenatal diagnosis and obstetric outcomes in triplet pregnancies in relation to chorionicity.

OBJECTIVE: This study describes the frequency, pregnancy complications and outcomes of non-trichorionic triplet pregnancies. DESIGN: A retrospective observational study. SETTING: Two tertiary level referral centres of Obstetrics and Prenatal Medicine, Germany. POPULATION: All women booked to receive targeted ultrasound screening between January 1998 and June 2003. The mixed low and high risk population included 36,430 women with ultrasound examinations between 11 and 24 weeks of gestation. Of those with available outcome, 176 were triplet pregnancies with three viable fetuses. METHODS: Analysis of ultrasound data and perinatal outcome in triplet gestations who had first and second trimester targeted ultrasound examination. Pregnancies with monochorionic or dichorionic placentation were identified and pregnancy outcome was compared to trichorionic triplets. MAIN OUTCOME MEASURES: Intrauterine fetal death, fetal growth restriction (FGR), mean discordance and survival rate in non-trichorionic versus trichorionic triplets. RESULTS: Triplets were trichorionic in 81.8% and had a monochorionic or dichorionic placentation in the remaining 18.2%. The rate of monochorionicity and dichorionicity was significantly higher after spontaneous conception than after assisted reproductive technologies (44.8%vs 12.9%, P < 0.001). In non-reduced monochorionic and dichorionic triplets compared with non-reduced trichorionic triplets, there was a higher rate of intrauterine fetal death (8.8%vs 1.5%, P < 0.01), FGR (33.3%vs 25.5%), mean discordance (20.5%vs 12.7%, P < 0.01), discordance >30% (26.3%vs 2.9%, P < 0.01) and delivery <32 weeks of gestations (47.4%vs 32.2%). There was a lower survival rate in non-trichorionic triplets (84.2%) than in trichorionic ones (91.7%). CONCLUSION: Triplet pregnancies with a monochorionic or dichorionic placentation are at significantly higher risk of adverse pregnancy outcome compared with trichorionic pregnancies. First trimester evaluation of chorionicity is strongly emphasised.

The syndrome of left isomerism: sonographic findings and outcome in prenatally diagnosed cases.

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.

Three-dimensional sonographic evaluation of the fetal lumbar spinal canal.

In a prospective cross-sectional ultrasound study the size of the fetal lumbar spinal canal was evaluated to determine reference values for the lumbar part of the vertebral canal. One hundred and sixty-seven pregnant women undergoing routine obstetric ultrasound were studied between 16 and 41 weeks of gestation. Exclusion criteria consisted of structural fetal anomalies or growth restriction. Area and volume of the vertebral canal at L1, L3 and L5 were calculated by three-dimensional (3D) ultrasound. Length of the lumbar spine was also determined. The size of the spinal canal and spinal length correlated well with gestational age. No gestational-age-dependent differences in area and volume measurements between upper and lower lumbar spine were found. The results provide an in vivo assessment of the spinal canal by 3D ultrasound over the entire gestation period.

Prenatal T-cell reconstitution after in utero transplantation with fetal liver cells in a patient with X-linked severe combined immunodeficiency.

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 immunoreconstitution 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.

Natural history of 70 fetuses with a prenatally diagnosed orofacial cleft.

OBJECTIVE: This study is an analysis of neonatal outcome in 70 fetuses diagnosed over a 10-year period as having cleft lip with or without cleft palate (CL-P) by ultrasonographic examination. METHODS: We describe the natural history of these 70 fetuses with orofacial clefts and select those who may be candidates for fetal surgery. The sonograms of 70 fetuses with orofacial clefts were evaluated for the nature of the CL-P and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate varied with the type of cleft. Also, the frequency and type of chromosomal abnormalities varied with the type of cleft. The overall mortality rate was 63% (n = 44). 3 of the surviving 26 fetuses had severe associated anomalies. In 13 of the remaining 23 cases, the fetal age at diagnosis (> or =22 weeks) excluded the fetuses from the potential benefits of fetal intervention. CONCLUSION: Of 70 fetuses with prenatally diagnosed orofacial clefts, only 10 (14%) were candidates for fetal CL-P surgery.