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PubMed2005

Diagnosis and outcome of congenital heart disease in fetuses from multiple pregnancies.

OBJECTIVES: (1) To assess the diagnostic accuracy of fetal echocardiography and (2) to evaluate the type and the outcome of congenital heart disease (CHD) detected in fetuses from multiple pregnancies. METHOD SETTING: tertiary referral center for prenatal diagnosis of CHD. DESIGN: observational study. In the period 1994-2003, 711 fetuses from 330 multiple pregnancies (282 twins, 45 triplets and 3 quadruplets) underwent fetal echocardiography at our unit. CHD were present in 45 of them. Diagnostic accuracy (sensitivity, specificity, positive and negative predictive values) was calculated for fetal echocardiography. For the fetuses with CHD, the following variables were analysed: gestational age at diagnosis, type of CHD, associated anomalies, fetoneonatal outcome. Confirmation of the diagnosis was obtained in 45/48 cases with CHD and in 580/610 without CHD. Mean follow-up time for diseased neonates was 52 months (range 6-127). RESULTS: In the study population, there were 40 true positives, 5 false negatives, 1 false positive and 632 true negatives, which yields the following figures: sensitivity 88.8% (40/45), specificity 99.8% (632/633), positive predictive value 97.6% (40/41) and negative predictive value 99.2% (632/637). As for the 45 cases with CHD, type of CHD was evenly distributed among left and right heart, conotruncal and septal defects, with 6/7 right heart lesions occurring in recipient fetuses of pregnancies complicated by TTTS. The aneuploidy rate was 7.0% (3/43). As for the outcome, 26 (57.8%) neonates survived and 17 (37.7%) died prior to or after surgery. Very low birthweight accounted for 7 of the 17 perinatal deaths. CONCLUSIONS: Our data show that the diagnostic performance of fetal echocardiography in multiple gestations is comparable with that obtained in singletons, as far as twin pregnancies are concerned. Data on triplets and quadruplets are too scant to be of statistical relevance. In addition, the importance of prematurity as primary cause of death in this subset of fetuses should be considered when counseling couples with multiple pregnancies and a fetus with CHD.

Adult↗
PubMed2005

Maternal serum biochemistry at 11-13(+6) weeks in relation to the presence or absence of the fetal nasal bone on ultrasonography in chromosomally abnormal fetuses: an updated analysis of integrated ultrasound and biochemical screening.

BACKGROUND: Screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) at 11-13(+6) weeks of gestation is associated with a detection rate of 90%, for a false-positive rate of 5%. Recent evidence suggests that in about 70% of fetuses with trisomy 21 the nasal bone is not visible at the 11-13(+6) week scan and that the frequency of absence of nasal bone differs in different ethnic groups. In addition, there is a relationship between absent nasal bone and nuchal translucency thickness. In a preliminary study we showed that while PAPP-A levels were lower and free beta-hCG levels were higher in trisomy 21 fetuses with an absent nasal bone, this difference was not statistically different. In fetuses with trisomy 13 and trisomy 18, there is also a high (57 and 67%) incidence of an absent nasal bone. The aim of this present study was to extend our examination of whether the level of maternal serum biochemical markers is independent of the presence or absence of the nasal bone in cases with trisomy 21 and to ascertain if any differences exist in cases with trisomies 13 and 18. METHODS: This study data comprised 100 trisomy 21 singleton pregnancies at 11-13(+6) weeks of gestation from our previous study and an additional 42 cases analysed as part of routine OSCAR screening. A total of 34 cases with trisomy 18 and 12 cases with trisomy 13 were also available. Ultrasound examination was carried out for measurement of fetal NT and assessment of the presence or absence of the fetal nasal bone. Maternal serum free beta-hCG and PAPP-A were measured using the Kryptor rapid random access immunoassay analyser (Brahms Diagnostica AG, Berlin). The distribution of maternal serum free beta-hCG and PAPP-A in chromosomally abnormal fetuses with absent and present nasal bone was examined. RESULTS: The nasal bone was absent in 29 and present in 13 of the new trisomy 21 cases and in 98 (69%) and 44 respectively in the combined series. For the trisomy 18 cases, the nasal bone was absent in 19 (55.9%) cases and in 3 (25%) of cases of trisomy 13. There were no significant differences in median maternal age, median gestational age, NT delta, free beta-hCG MoM and PAPP-A MoM in trisomy 21 fetuses with and without a visible nasal bone, and similarly for those with trisomies 13 or 18. For a false-positive rate of 5%, it was estimated that screening with the four markers in combination with maternal age would be associated with a detection rate of 96% of cases with trisomy 21. For a false-positive rate of 0.5%, the detection rate was 88%. CONCLUSIONS: There is no relationship between an absent fetal nasal bone and the levels of maternal serum PAPP-A or free beta-hCG in cases with trisomies 13, 18 or 21. An integrated sonographic and biochemical test at 11-13(+6) weeks can potentially identify about 88% of trisomy 21 fetuses for a false-positive rate of 0.5%.

Biomarkers↗
PubMed2006

Ultrasound screening of fetuses at increased risk for Down syndrome: how many missed diagnoses?

OBJECTIVE: To determine the number of Down syndrome (DS) fetuses identified, amniocenteses performed, and procedure-related losses incurred when second-trimester ultrasound is used to screen high-risk patients in order to determine who should undergo an amniocentesis. METHODS: A decision analytic model was designed for women at increased risk for a DS fetus due to either advanced maternal age (AMA) or a positive expanded maternal serum alpha fetoprotein (MSAFP) screening test, also known as a triple screen (+triple) test. The model compared: (1) the current standard of offering all at-risk women amniocentesis to (2) a policy of performing amniocentesis only when sonographic markers of DS are seen on ultrasound. Baseline assumptions included a sensitivity of 60.6% for targeted ultrasound and a screen-positive rate of 16.2%. RESULTS: If targeted ultrasound is used to determine whether high-risk patients should undergo amniocentesis, 56% (3933/7025) of all DS fetuses are missed. The diagnosis of DS is missed most frequently among women at highest risk for DS (AMA and +triple). In this subgroup of patients, there are 3152 DS fetuses in the second trimester, of which 2815 (89%) are identified by triple screen test. When an ultrasound screen is added, only 1709 (54%) of DS fetuses will be identified. CONCLUSION: Substantially fewer DS fetuses will be detected when targeted ultrasound is used as a screen among already identified high-risk patients.

Decision Support Techniques↗
PubMedDate not supplied

Adult-onset GM2 gangliosidosis diagnosed in a fetus.

Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat-inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of alpha chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG.

Adult↗
PubMed2002

Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.

Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. Fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21 weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. Growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. Fetus 2, 20 weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy-Walker malformation on ultrasound examination. Autopsy showed low-set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy-Walker malformation, unremarkable spinal cord and skeletal muscle. Fetus 3, 21 weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable. In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy-Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified.

Adult↗
PubMed2002

Can we predict 22q11 status of fetuses with tetralogy of Fallot?

OBJECTIVE: To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS: One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echographic features [increased nuchal translucency (NT), intrauterine growth retardation (IUGR), polyhydramnios, extracardiac malformations, pulmonary arteries abnormalities] were noted. RESULTS: Twenty-five fetuses had a 22q11 deletion (16.6%). Increased NT, polyhydramnios and IUGR were more frequent in fetuses with 22q11 deletion as well as pulmonary arterial abnormalities. When these different features were present in the same fetus with tetralogy of Fallot, 22q11 deletion can be predicted with a sensitivity of 88%. CONCLUSION: Simple echographic features can help to predict 22q11 status in fetuses with tetralogy of Fallot. This may improve the efficiency of prenatal screening for this defect.

Chromosomes, Human, Pair 22↗
PubMed2002

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagnosis of balanced Robertsonian translocations, of these two fetuses had UPD, giving a risk estimate of 0.65% (CI 0.2-2.3). This risk justifies the recommendation of UPD analysis in fetuses diagnosed prenatally with Robertsonian translocations, with the emphasis on the chromosomes known to contain imprinted genes, such as 14 and 15. We also discuss the possibility of UPD in offspring of Robertsonian translocation carriers with normal karyotype. Based on the risk for UPD in fetuses with Robertsonian translocation we suggest to test these fetuses for UPD and to do so on amniocytes rather than chorionic villi when the risk for unbalanced karyotype is approximately 1%, comparable to the risk for UPD.

Amniocentesis↗
PubMed2003

Perinatal outcome in fetuses with megacystis in the first half of pregnancy.

OBJECTIVE: To present the outcome of a consecutive series of 19 fetuses referred to our center for megacystis in the first half of the pregnancy. STUDY DESIGN: Retrospective analysis. METHODS: 19 cases of early fetal megacystis were reviewed. Inclusion criteria were the visualization of an enlarged bladder with a maximum longitudinal diameter >10 mm and a gestational age of no more than 19 weeks. RESULTS: The median gestational age at diagnosis was 16 weeks (range 12-19 weeks). The median maximum longitudinal diameter of the fetal bladder at the time of diagnosis was 21 mm (range 11-35 mm). The fetal megacystis was associated with another extra renal anomaly in six cases (30%). There was no fetus with abnormal karyotype. Termination of pregnancy was performed in 11 cases because of the severity of the renal disease. One spontaneous intrauterine death occurred. A vesicoamniotic shunt was inserted in three cases, two of which died in utero. The surviving fetus that was shunted died in the neonatal period from acute renal failure. In the remaining four fetuses, resolution of the megacystis occurred spontaneously (n = 2) or following serial single-needle aspiration (n = 2). One of these had renal insufficiency requiring kidney transplantation. CONCLUSION: The outcome of fetuses with early obstructive uropathy is poor, with or without in utero therapy. Pathophysiology, clinical presentation and outcome of fetuses with early uropathy may differ from those previously described in the latter part of pregnancy.

Abortion, Eugenic↗
PubMed2004

Uterine contractions might increase heart preload in the recipient fetus in early-onset twin-twin transfusion syndrome: an ultrasound assessment.

OBJECTIVES: Uterine contractions (UC) in twin pregnancy are often experienced, yet the effects of UC in twin-twin transfusion syndrome (TTTS) remain to be clarified. The recipient heart preload condition and the effects of UC were evaluated and the final objective was to clarify the effects of tocolysis. METHODS: Firstly, the preload indexes (PLIs) and cardiothoracic area ratios (CTARs) were analyzed on both fetuses of 10 TTTS cases, aged from 14 to 28 gestational weeks in stage III/IV cases for evaluating the preload condition. Then, the PLIs in the presence and absence of UC in the recipient fetuses were determined to evaluate the difference. RESULTS: The PLIs of the recipient and the donor fetuses were 0.78 +/- 0.34 (n = 163) and 0.35 +/- 0.13 (n = 71) respectively. The CTARs were 30.2 +/- 6.1 (n = 62) and 23.4 +/- 5.4 (n = 62) respectively. The PLIs in the absence and presence of UC in the recipient fetuses were 0.69 +/- 0.29 and 0.99 +/- 0.38 (n = 35). All above comparisons showed highly significant differences (p < 0.0001). CONCLUSION: The recipient fetuses have signs of cardiac dilatation and a high-preload condition. UC transiently further raises high-preload conditions of the recipient fetus. Thus, tocolysis may be necessary for management in cases of early-onset severe TTTS.

Dilatation, Pathologic↗
PubMed1995

Interactive effects of alcohol and diabetes during pregnancy on the rat fetus.

To determine the effect of maternal diabetes and alcohol intake, separately and in combination, on fetal growth and development, pregnant rats were divided into four groups: diabetic (D), diabetic plus alcohol (DA), control (C), and control plus alcohol (CA). Diabetes was induced by administration of streptozotocin before mating and alcohol was administered by gavage (2 g/kg body weight/day) on days 6-11 of gestation. Both diabetic groups (D and DA) had significantly lower weight gain during pregnancy compared to the controls (C and CA), despite the fact that the former consumed more food and water. Alcohol treatment resulted in reduced water and food intake and lower weight gain in the diabetic rats (DA), but not in the non-diabetic rats (CA), compared to their respective controls (D and C). On day 21 of gestation fetal body weights were significantly less and placental weights were significantly greater in the diabetic groups (D and DA) compared with the non-diabetic groups (C and CA). Differences in fetal and placental weights between rats exposed and not exposed to alcohol (C vs. CA and D vs. DA) were not significant. The number of fetuses with external malformations was significantly greater in the litters of alcohol exposed diabetic (DA) than non-alcohol exposed (D) animals. No external or skeletal malformations were observed in fetuses of non-diabetic rats regardless of whether or not they received alcohol (C or CA). The skeletal development of fetuses of diabetic rats, judged by the number and size of ossification centers on day 21 of gestation, was retarded when compared with fetuses of non-diabetic rats. Alcohol further retarded skeletal development of fetuses of diabetic animals (DA vs. D), but not of fetuses of non-diabetic rats (CA vs. C). It is concluded that maternal alcohol administration potentiates the effects of maternal diabetes on the incidence of fetal malformations and the retardation of skeletal development.

Abnormalities, Drug-Induced↗
PubMed1987

Dose- and stage-related sex difference in the incidence of cytosine arabinoside induced digit anomalies in the mouse fetus.

Pregnant mice of the Jc1:ICR strain were injected intraperitoneally with a single dose of 2.5, 5, or 10 mg/kg of cytosine arabinoside (Ara-C) on day 9.5 or 10.5 of gestation (dg). Mice were killed on 18.4 dg, and the incidences of digit anomalies were compared between male and female fetuses. In the group treated with 10 mg of Ara-C on 9.5 dg, oligodactyly of the hindlimbs was produced more frequently in male fetuses. In the group treated with 5 mg of Ara-C on 10.5 dg, oligodactyly of the forelimbs tended to occur more frequently in male fetuses. Also, in this group, oligodactyly of the hindlimbs occurred more frequently in male fetuses, whereas polydactyly occurred more frequently in female fetuses. The observed difference in the incidences of digit anomalies between male and female fetuses may be explained either in terms of the sex-related time lag in the critical period for digit development or by a probable sex difference in embryonic susceptibility to Ara-C.

Abnormalities, Drug-Induced↗
PubMed2004

Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21.

OBJECTIVE: To determine the value of measuring maxillary length at 11-14 weeks of gestation in screening for trisomy 21. METHODS: In 970 fetuses ultrasound examination was carried out for measurement of crown-rump length (CRL), nuchal translucency and maxillary length, and to determine if the nasal bone was present or absent, immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. In 60 cases the maxillary length was measured twice by the same operator to calculate the intraobserver variation in measurements. RESULTS: The median gestation was 12 (range, 11-14) weeks. The maxilla was successfully examined in all cases. The mean difference between paired measurements of maxillary length was -0.012 mm and the 95% limits of agreement were -0.42 (95% CI, -0.47 to -0.37) to 0.40 (95% CI, 0.35 to 0.44) mm. The fetal karyotype was normal in 839 pregnancies and abnormal in 131, including 88 cases of trisomy 21. In the chromosomally normal group the maxillary length increased significantly with CRL from a mean of 4.8 mm at a CRL of 45 mm to 8.3 mm at a CRL of 84 mm. In the trisomy 21 fetuses the maxillary length was significantly shorter than normal by 0.7 mm and in the trisomy 21 fetuses with absent nasal bone the maxilla was shorter than in those with present nasal bone by 0.5 mm. In fetuses with other chromosomal defects there were no significant differences from normal in the maxillary length. CONCLUSION: At 11-14 weeks of gestation, maxillary length in trisomy 21 fetuses is significantly shorter than in normal fetuses.

Adolescent↗
PubMed2004

Foramen ovale changes in growth-restricted fetuses.

OBJECTIVE: In animal experiments hypoxemia induces an increased shunting through the fetal foramen ovale (FO). Based on the hypothesis that the FO is expanded to permit more flow, the aim of this study was to determine the size of the FO in growth-restricted human fetuses. METHODS: Thirty-one women with singleton pregnancies complicated with growth-restriction (< 5th percentile) were examined at 24-39 weeks of gestation. The diameter between the FO valve and the atrial septum was determined during maximum excursion in a horizontal transverse section of the fetal heart, and the transverse diameter of the right atrium (RA) was noted. The pulsatility index (PI) was determined in the umbilical artery (UA) and absent or reversed end-diastolic flow velocity was noted. The measurements were compared with a reference population using Z-scores. RESULTS: In comparison with normally grown fetuses, the growth-restricted fetuses had a normal RA size (P = 0.08) but a smaller FO (P = 0.002), particularly when expressed as a relative size by the ratio FO/RA (P < 0.0001). This effect on the FO and FO/RA was seen mainly at < 32 weeks of gestation (P = 0.003 and P < 0.0001, respectively), and was not significant later in pregnancy. There was a tendency towards a negative relationship between relative size of the FO (FO/RA) and progressive placental compromise (overall P < 0.0001). CONCLUSIONS: Growth-restricted fetuses maintain a normally grown heart (expressed by the RA diameter) but a reduced FO diameter. The effect is seen before 32 weeks and tends to be more marked in fetuses with pronounced hemodynamic compromise of the placenta. This supports the theory that FO shunting is impaired in severely premature fetuses with placental compromise.

Blood Flow Velocity↗
PubMed2003

Behavior of septum primum mobility in third-trimester fetuses with myocardial hypertrophy.

OBJECTIVES: The mobility of the septum primum (SP) in the fetus is a diastolic phenomenon and could be related to left atrial pressure. We studied the linear displacement of the SP in the left atrium in fetuses of diabetic mothers (FDM) with and without septal hypertrophy (SH) and in normal fetuses of normoglycemic mothers. In this study we set out to test the hypothesis that the linear displacement of the SP flap valve is less marked in fetuses with SH than in those without SH. METHODS: The ratio between the linear displacement of the flap valve and the left atrial diameter (excursion index (EI)) was compared in ten FDM with SH, eight FDM with normal septal thickness and eight normal fetuses of non-diabetic mothers. Atrioventricular flow velocities were also compared in the three groups. RESULTS: Comparison of the three groups showed that in FDM with SH, the mean EI was 0.36 +/- 0.09, in FDM without SH it was 0.51 +/- 0.09 (P = 0.001) and in the control fetuses it was 0.49 +/- 0.12 (P = 0.03). There was a significant negative correlation between septal thickness and EI in FDM with SH. There was no correlation between septal thickness and atrioventricular flow velocities. CONCLUSION: Mobility of the SP in FDM with SH is reduced and there is an inverse correlation between the linear displacement of the SP and septal thickness. These findings may be related to changes in left ventricular diastolic function secondary to myocardial hypertrophy.

Cardiomegaly↗
PubMed2003

Abnormal cardiac function in fetuses with increased nuchal translucency.

OBJECTIVE: To evaluate cardiac function in structurally and chromosomally normal fetuses with increased nuchal translucency (NT). METHODS: Forty-two structurally and chromosomally normal fetuses with increased NT at 11-14 weeks of gestation underwent fetal echocardiographic examination at 20-23 weeks. Fifty fetuses with normal NT values were considered as controls. Pulmonary and aortic peak velocity and time to peak velocities were measured as indices of ventricular systolic function. The ratios between the E-wave and A-wave (E/A) and the ratios between the E-wave and time velocity integral (E/TVI) at the level of both atrioventricular valves were evaluated as indices of ventricular diastolic function. RESULTS: In fetuses with increased NT the E/A ratios were significantly decreased when compared to control fetuses at the level of both the mitral (0.52 +/- 0.09 vs. 0.60 +/- 0.10, P = 0.0002) and tricuspid (0.51 +/- 0.09 vs. 0.61 +/- 0.09, P < 0.0001) valves. Similar results were found for the E/TVI ratios (mitral valve 4.79 +/- 1.03 vs. 5.63 +/- 1.23, P = 0.0007 and tricuspid valve 4.40 +/- 0.88 vs. 5.19 +/- 0.82, P < 0.0001). No significant relationship was found between the degree of NT and the abnormalities in Doppler indices. There were no significant differences in Doppler systolic indices. CONCLUSION: Structurally and chromosomally normal fetuses with increased NT have low E/A and E/TVI ratios at 20-23 weeks of gestation. These findings might indicate cardiac diastolic dysfunction.

Blood Flow Velocity↗
PubMed2005

Differential diagnosis in fetuses with absent septum pellucidum.

OBJECTIVE: To elucidate the characteristic morphological features that may help in the prenatal differential diagnosis of absent septum pellucidum as demonstrated by ultrasound. METHODS: Twenty-six fetuses were referred to the fetal neurology clinic due to mild to severe ventriculomegaly and a connection between the lateral ventricles. The following ultrasonographic features were evaluated: place and extent of the ventricular communication, non-cleavage of the hemispheres and deep gray nuclei, callosal anomalies, position of the choroid plexus, and other central nervous system and facial or body anomalies. A flowchart was created in order to facilitate the final diagnosis. RESULTS: The presence of non-cleavage and/or characteristic facial anomalies prompted the diagnosis of holoprosencephaly (HPE) in 14 fetuses, including two fetuses with the middle interhemispheric variant. Ten fetuses were diagnosed as having hydrocephalus based on the lack of the same features and the observation that the communication between the lateral ventricles was at the level of the third ventricle with almost normal anterior and posterior segments. In two fetuses the diagnosis of septo-optic dysplasia vs. isolated agenesis of the cavum septi pellucidi was contemplated. CONCLUSIONS: The use of the proposed flowchart enabled differentiation between hydrocephalus and HPE. The communication between the ventricles in hydrocephalic fetuses may be due to a disruption of the septum pellucidum or to a pathological enlargement of the foramen of Monro. Published by John Wiley & Sons, Ltd.

Diagnosis, Differential↗
PubMed2003

Peri- and intraventricular cerebral sonography in second- and third-trimester high-risk fetuses: a comparison with neonatal ultrasound and relation to neurological development.

OBJECTIVES: To determine whether periventricular leukomalacia (PVL) and peri- and intraventricular hemorrhages can be detected in fetuses at risk for preterm birth and to establish the clinical significance of this finding. METHODS: Prenatal cerebral sonography was performed in 26 fetuses at risk for uteroplacental insufficiency on the day of inclusion into the study and weekly until delivery. Neonatal cerebral ultrasound examination was performed within 24 h of birth and biweekly until discharge. The infants underwent standardized neurological examinations. RESULTS: During 30 observations, 21/26 fetuses presented in a cephalic position. Successful visualization in the coronal and sagittal planes was significantly correlated with that of a control population (r = 0.615; 95% CI, 0.390-0.771). In 20/21 fetuses at least one observation was adequate for analysis. Eleven cerebral abnormalities were found in nine fetuses, periventricular echodensities in four, intraventricular hemorrhage in two, and localized thalamic densities in five. In six of these infants ultrasound abnormalities persisted after birth. Neurological follow-up at 24 months demonstrated abnormalities in three infants, two infants were normal and one was lost to follow-up. The three infants with normal ultrasound results after birth had a normal follow-up. Five infants with normal antenatal ultrasound results showed ultrasound abnormalities during the neonatal period; four of them developed PVL Grade 1 and one developed PVL Grade 2. The follow-up of two of these infants was normal, two died and one developed spastic tetraplegia. Abnormal antenatal brain sonography was significantly correlated with gestational age at birth (r = 0.487; P = 0.029). CONCLUSION: Peri- and intraventricular echodensities can be detected reliably before birth in fetuses at high risk for uteroplacental insufficiency. When abnormalities persist, there is a high risk for an adverse outcome.

Cerebral Hemorrhage↗
PubMed2005

The effects of serial intravascular transfusions in ascitic/hydropic RhD-alloimmunized fetuses.

OBJECTIVE: To evaluate the effects of serial intravascular transfusions on RhD-alloimmunized fetuses with ascites/hydrops at the time of the first transfusion by measuring multiple hematological/biochemical blood variables. METHODS: Thirty-one singleton pregnancies were referred for management of RhD alloimmunization. Seven fetuses had hydrops on presentation and were transfused immediately. The remainder underwent weekly ultrasound examinations, and fetal blood sampling and transfusion were performed on development of ascites. In the 104 samples collected overall from the 31 fetuses, glucose, uric acid, urea, creatinine, total protein, total and direct bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyltransferase, alkaline phosphatase, lactic dehydrogenase, amylase, pseudocholinesterase (PCHE), creatine kinase, triglycerides and cholesterol were measured and compared with a reference range for non-anemic fetuses. RESULTS: The median gestational age at first transfusion was 26 (range, 18-34) weeks. There were three fetal losses after the first transfusion, two of which were due to procedure-related complications; one further loss occurred. At the first transfusion fetal hematocrit, pO2, total protein, PCHE, creatinine and urea concentrations were significantly decreased compared to reference data, while total and direct bilirubin, AST, ALT, amylase, triglyceride and uric acid concentrations were increased. In all surviving fetuses ascites/hydrops had disappeared by the second transfusion. Fetal pO2, total protein, AST, ALT and PCHE concentrations had normalized by the third transfusion. Correction of fetal anemia did not affect the other variables. CONCLUSIONS: RhD-alloimmunized fetuses with ascites/hydrops at the time of the first transfusion had a survival rate of 87%. Alterations of several biochemical fetal blood indices are present at the first sampling/transfusion, but most variables normalize with intravascular transfusions.

Ascites↗