Umbilical cord diameter at 11-14 weeks of gestation: relationship to nuchal translucency, ductus venous blood flow and chromosomal defects.

OBJECTIVE: To compare the umbilical cord diameter (UCD) in euploid and aneuploid fetuses at 11-14 weeks of gestation. METHODS: In 299 fetuses at 11-14 weeks of gestation the UCD, the nuchal translucency and the a-wave of the ductus venosus were measured. Reference ranges for the UCD according to the gestational age and to the crown-rump-length (CRL) were obtained by measuring the UCD by outer-to-outer border of 244 singleton pregnancies with normal karyotype. The fetal karyotype was established by chorionic villus sampling, amniocentesis or in case of suspected chromosomal abnormalities in the newborn. Linear regression was used to determine the significance of the association between the UCD and CRL or gestational age. RESULTS: Two hundred and ninety-nine fetuses were examined. The median fetal CRL was 64.5 mm (range 45-84) and the median gestational age was 13 (range 11-14) weeks. In the chromosomally normal group the UCD significantly increased with the CRL (r=0.620; p<0.001) and the gestational age (r=0.555; p<0.001). The regression equation for the mean UCD (y) according to the gestational days (x) was: y=-0.604+0.051*x. The regression equation for the mean UCD (y) according to the CRL (x) was: y=1.962+0.029*x. There were no significant differences in the mean UCD in fetuses without and with chromosomal abnormalities. The proportion of fetuses with an UCD above the 95th centile for CRL was higher in aneuploid compared to euploid fetuses (5/14 vs. 13/285, p<0.005). In 5/14 (35.7%) fetuses with chromosomal defects the NT and the UCD were above the 95th centile, whereas none of the fetuses with normal karyotype showed this combination. The proportion of fetuses with increased UCD and abnormal DV blood flow was increased in the cases with chromosomal abnormalities (33.3 vs. 1.8%, p<0.005). CONCLUSION: Umbilical cord diameter at 11-14 weeks increases with fetal CRL. Fetuses with chromosomal abnormalities are more likely to have an UCD above the 95th centile. Therefore, sonographic evaluation of the umbilical cord during first trimester ultrasound might be of additional value in the assessment of fetuses at risk for aneuploidies.

Isolated ventricular septal defects detected by color Doppler imaging: evolution during fetal and first year of postnatal life.

OBJECTIVE: To evaluate the development during gestation and up to 1 year postnatally of isolated small ventricular septal defects (VSDs) not visible by gray-scale imaging and detected only on color Doppler fetal echocardiography. METHODS: This was a retrospective analysis of 146 fetuses with isolated VSDs detectable only on color Doppler echocardiography. Complete sequential gray-scale, color Doppler and spectral Doppler examination of the fetal heart were performed. The following variables were documented: site of the VSD, presence of extracardiac or chromosomal anomalies, outcome of the pregnancy and evolution of the defect up to 1 year postnatally. RESULTS: A total of 113 fetuses reached their first year of postnatal life, 23 pregnancies were terminated, there were three stillbirths/neonatal deaths, and seven were lost to follow-up. It was observed that 32.7% (n = 37) of all defects in neonates alive after 1 year closed in utero, 44.3% (n = 50) of defects closed spontaneously within the first postnatal year, and 23.0% (n = 26) of defects did not close. In all, a comparable number of perimembranous and muscular septal defects closed spontaneously in utero and during the first year of postnatal life. Among 35 fetuses with extracardiac anomalies 51.4% (n = 18) were euploid. CONCLUSION: Small VSDs, detectable only by color Doppler echocardiography, show a high spontaneous intrauterine and postnatal closure rate. These findings might be of value for prenatal parental counseling.

Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes.

OBJECTIVE: To evaluate whether abnormal atrial morphology, which is well recognized in autopsy series, is detectable by fetal echocardiographic examination of the four-chamber view, and can therefore be utilized to differentiate left from right isomerism in heterotaxy syndromes. METHODS: This study was a retrospective review of 30 cases with prenatally diagnosed heterotaxy syndromes. Ultrasound video recordings and still images were reviewed with respect to atrial morphology in the four-chamber view. In 25 cases the morphology of both atria was sufficiently well visualized on the recordings to be evaluated and only these were included in the study. RESULTS: Two types of atrial morphology were distinguished in our cohort: a sickle-shape with the tip pointing laterally and apically, and a blunt shape resembling the usual atrial appearance in the four-chamber view. Nineteen out of the 25 cases (76%) presented with isomerism of the atria in the four-chamber view. Thirteen had bilateral sickle-shaped atrial morphology, all associated with left isomerism. Six had bilateral blunt-shaped atrial morphology, all associated with right isomerism. The atria of the remaining six cases were not isomeric, the right atrium being sickle-shaped and the left blunt-shaped. Five of the latter cases were associated with left and one with right isomerism. CONCLUSIONS: The majority of prenatally diagnosed heterotaxy syndromes seem to present with isomeric atrial morphology in the four-chamber view. In these cases a differentiation between left and right isomerism can be based on the two distinct types of atrial morphology. This may further enhance the prenatal differentiation of these syndromes.

Prenatal diagnosis of Bruck syndrome.

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.

Atypical ductus venosus blood flow pattern in fetuses with severe tricuspid valve regurgitation.

We observed seven cases of atypical ductus venosus (DV) blood flow velocity waveform pattern with impairment of systolic forward flow resulting in a notch or a significant reduction in peak velocity during the S-wave in systole. All affected fetuses had severe tricuspid valve regurgitation associated with congestive heart failure and/or cardiac malformations. The decrease in venous systolic forward flow modulates the venous pulsatility indices towards more favorable values and should be considered when fetuses with tricuspid regurgitation are followed by Doppler assessment of the DV. Detection of these changes in the DV flow profile should prompt detailed color Doppler echocardiography with special emphasis on right atrioventricular valve regurgitation.

Antenatal corticosteroid therapy in premature infants.

OBJECTIVE: The objective was to examine the effect of antenatal corticosteroid treatment on premature infants, with special attention to any possible adverse effects on neonatal outcome. METHODS: A retrospective chart review of all singleton and multiple pregnancies delivered in our perinatal center between 1991 and 1999, who had a birth weight of < or =1,500 g and who were subsequently admitted to our neonatal intensive care unit. Three hundred and sixty-five infants were included in the study and divided into two groups. One group had a gestational age below 28 weeks (< or =196 days) and one group was 28 weeks (>196 days) onward. RESULTS: Antenatal corticosteroid therapy reduced the duration of mechanical ventilation, the need for supplementary oxygen, and the need for exogenous surfactant in neonates born at >196 days's gestation (p<0.05). Corticosteroid treatment seemed to benefit the respiratory distress syndrome (RDS; p=0.051) in this group. There were less cases of necrotizing enterocolitis and neonatal death in the group with corticosteroid treatment (p<0.05). Before 28 weeks' gestation, all parameters that were examined (e.g., duration of mechanical ventilation, need for supplemental oxygen, need for exogenous surfactant, RDS) showed no significant differences between those pregnancies pre-treated with corticosteroids or those not treated with corticosteroids. There was no adverse effect of corticosteroids on chorioamnionitis and early onset sepsis in pregnancies with a premature rupture of the membranes. Repeated corticosteroid treatment had no effect on birth weight, but did not improve neonatal outcome either. The interval between last corticosteroid treatment and delivery had no influence on RDS. There was no effect of corticosteroids on periventricular leukomalacia and intraventricular hemorrhage. Regression analysis showed a higher risk of severe RDS in multiple gestations. CONCLUSION: Antenatal betamethasone treatment reduces perinatal morbidity and mortality after 28 weeks' gestation. We found no adverse effects and also no benefit of repetitive corticosteroid treatment. The interval between last corticosteroid treatment and delivery did not influence the incidence of RDS. Dose, timing, and rate of antenatal corticosteroids should be reconsidered in multiple gestations.

Targeted first-trimester prenatal diagnosis before fetal reduction in triplet gestations and subsequent outcome.

OBJECTIVE: To assess the feasibility of targeted first-trimester ultrasound evaluation in triplet gestations and to report the outcome in reduced and expectantly managed triplets. METHODS: This was a retrospective analysis of 127 triplets at 11-14 weeks with targeted ultrasound examination including nuchal translucency (NT) screening. RESULTS: One or more abnormal findings were observed in 33 of 381 fetuses (8.7%), including increased NT (n = 18), malformations (n = 4), aneuploidy (n = 3), relative intrauterine growth restriction (n = 2) or spontaneous demise (n = 13). Of 63 patients (49%) who chose reduction, selective termination due to abnormal findings was performed in 13 fetuses. The rates of complete abortion <24 weeks were 9.8% and 3.2% for those with expectant management and fetal reduction, respectively. Expectantly managed triplets delivered significantly earlier (31.1 +/- 3.8 vs. 35.6 +/- 3.3 weeks) (P < 0.01) with a lower mean birth weight (1483 +/- 552 g vs. 2305 +/- 557 g) (P < 0.01) and a lower number of liveborn fetuses (85.6% vs. 97.4%) (P < 0.01) than those reduced. CONCLUSION: Targeted first-trimester ultrasound is feasible and reliable in triplet gestations and should be an integral part of the counseling process. It results in more accurate selection for those who consider fetal reduction. Our data further support fetal reduction as a valuable strategy to improve perinatal outcome in triplet pregnancies.

Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience.

OBJECTIVE: To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies. METHODS: This was a retrospective survey of fetuses in our databases over a period of 10 years with postnatally confirmed prenatal diagnosis of cardiosplenic syndromes. RESULTS: In 32 of 35 fetuses the prenatal diagnosis of cardiosplenic syndromes was confirmed postpartum. Twenty-two fetuses had left isomerism. Their main prenatal ultrasound features were interrupted inferior vena cava (n = 21), complete atrioventricular septal defect (n = 15), viscerocardiac heterotaxy (n = 15), persistent bradyarrhythmia (n = 12) and fetal hydrops or nuchal edema (n = 12). Twelve pregnancies were terminated, two fetuses were stillborn and eight infants survived. Ten fetuses had right isomerism. Their main sonographic features were juxtaposition of the descending aorta and inferior vena cava (n = 7), complete atrioventricular septal defect (n = 7), left persistent superior vena cava (n = 6) and viscerocardiac heterotaxy (n = 6). In this group there was one stillbirth, five infant deaths and four survivors. The overall survival rate and spectrum of other cardiac malformations were similar between the two groups. Prenatal diagnosis of other visceral features of cardiosplenic syndromes was inconsistent. CONCLUSION: Cardiosplenic syndromes can be diagnosed with high accuracy by prenatal sonography. A diagnosis of left isomerism should be strongly suggested in the presence of a combination of at least two of the following: (1) complete atrioventricular septal defect or other structural heart disease; (2) interruption of inferior vena cava with azygos continuation; (3) early fetal heart block; (4) viscerocardiac heterotaxy. Right isomerism should be suspected in the presence of a combination of at least two of the following: (1) structural heart disease, namely complete atrioventricular septal defect; (2) juxtaposition of inferior vena cava and descending aorta; (3) viscerocardiac heterotaxy.

VEGF-, KIT protein- and neutral endopeptidase (NEP/CD10)-positive myofibroblasts-precursors of angiogenesis in chorioangiomas?

Chorioangiomas are benign angiomatous tumours of the placenta occurring with a frequency of approximately one per cent of all examined placentae. Hypoxia and genetic factors are discussed to be predisposing factors for chorioangiomas. However, not much is known about the tumorigenesis of these benign tumours. Screening with various antibodies in a rare case of chorangiomatosis, we found disseminated spindle cells coexpressing vascular epithelial growth factor (VEGF), neutral endopeptidase 24.11 (NEP/CD10), and KIT protein (CD117) within the tumour stroma. A possible involvement of such factors in angiogenesis and tumorigenesis of chorioangiomas/chorangiomatosis has not been studied so far.Seven placentae with chorioangiomas (n=6) or chorangiomatosis (n=1), six normal placentae, and four cutaneous haemangiomas were analysed immunohistochemically (ABC and APAAP methods) using antibodies against VEGF, NEP, KIT protein, as well as endothelial markers like PECAM-1 (CD31), CD34, v. Willebrand factor (factor VIII), and ulex europaeus. In addition, analysis of c-kit 'gain of function' mutation Asp 816 to Val by means of Hinfl digestion and direct sequencing of semi-nested polymerase chain reaction products was performed. All chorioangiomas and haemangiomas strongly expressed the endothelial markers CD34, CD31, and FVIII, while only weak expression of ulex lectin was noted. Disseminated groups of VEGF-, NEP-, and KIT protein-positive spindle cells, which coexpressed vimentin and smooth-muscle actin were identified as myofibroblasts in the stroma of four chorioangiomas. These spindle cells were quantified as numerous in two and as rare in two other cases. No VEGF-positive myofibroblasts, however, were detected in the villous stroma of normal control placentae and haemangiomas. Only scattered perivascular myofibroblasts expressing KIT protein and NEP were detected in early gestational placenta controls. In all chorioangiomas and chorangiomatosis PCR analysis failed to unveil c-kit 'gain of function' mutation Asp 816 to Val in KIT protein-positive spindle cells. Moreover, a significant increase in mast cells was observed only in the haemangiomas. As expected, endothelial origin of chorioangiomas/chorangiomatosis was verified by CD31, CD34, FVIII expression. Myofibroblastic spindle cells expressing VEGF and NEP may be precursor cells in these peculiar angiomatous tumours. Although activating c-kit mutation Asp 816 to Val was not detected by PCR, the presence of KIT protein (CD117)-positive intratumoral myofibroblastic spindle cells in chorioangiomas and chorangiomatosis might suggest involvement of the stem cell factor (SCF)-receptor in pathologically enhanced angiogenesis.

Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation.

We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed.

The evaluation of cardiac biometry in major cardiac defects detected in early pregnancy.

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.

Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies.

OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform approach to the investigation of cases of body stalk anomaly, including amniocentesis or chorionic villus sampling (CVS) for fetal karyotyping. A general schematic sonographic examination was performed to search for fetal abnormalities and was followed by detailed two-dimensional and color-coded Doppler echocardiography. Nuchal translucency (NT) measurements were performed before 14 weeks of gestation. Postmortem examinations of fetuses were performed following termination by induction with prostaglandin. RESULTS: Eleven fetuses with body stalk anomaly were diagnosed, including two multiple pregnancies complicated by discordant body stalk anomaly. The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed, short umbilical cord with a single artery. None of the fetuses demonstrated craniofacial defects. All placentae that were examined showed evidence of persistence of the extra-embryonic celomic cavity. NT measurements were abnormal in all cases. Fetal karyotyping was normal in ten cases. In one case CVS showed a mosaic trisomy 2 (46,XX/47,XX,+ 2). Selective fetocide was performed in one trichorionic-triamniotic triplet pregnancy in early gestation, which was followed by normal development of the remaining healthy dichorionic-diamniotic twins. In a monochorionic-diamniotic twin pregnancy with one affected fetus ultrasound surveillance showed the normal development of the unaffected twin. CONCLUSIONS: We present a large series of body stalk anomaly, including multiple gestations, with thoraco- and/or abdominoplacental attachment and without craniofacial defects. This specific phenotype may be explained by embryonic maldevelopment. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for patient management. Consequently, this anomaly should be distinguished from other fetal abdominal wall defects.

Doppler assessment of the uterine circulation in the second trimester in twin pregnancies: prediction of pre-eclampsia, fetal growth restriction and birth weight discordance.

OBJECTIVE: To compare singleton nomograms of the uterine circulation with previously established twin nomograms in the prediction of pre-eclampsia, fetal growth restriction (FGR), and birth weight discordance > or = 20% in twin gestations. METHODS: This was a retrospective analysis of maternal and perinatal data obtained from 256 dichorionic twin pregnancies. The mean uterine artery resistance index was calculated from both sides and the presence and absence of notching was recorded. Cut-off levels for abnormal flow parameters were the 95th centile of reference ranges of either singleton or twin nomograms. RESULTS: According to twin reference values, 14.0% of patients were screen positive, compared to only 3.1% when singleton reference values were used. The sensitivity of abnormal uterine artery Doppler results defined by twin nomograms vs. singleton nomograms was 36.4% vs. 18.2% for pre-eclampsia, 26.7% vs. 9.7% for FGR, 28.9% vs. 7.9% for birth weight discordance > or = 20%, and 26.5% vs. 10.3% for any adverse outcome, respectively. CONCLUSION: Despite using specially constructed twin nomograms, uterine artery Doppler studies in twin gestations had an overall low sensitivity in predicting adverse obstetric outcome. Negative predictive values of uterine Doppler studies in twin gestations are lower compared to those reported in unselected singleton pregnancies, i.e. maternal and fetal complications occur more frequently despite normal uterine artery waveforms. This suggests that there is an additional pathomechanism, causing pre-eclampsia and FGR in twin gestations, that is unrelated to uteroplacental insufficiency.

First trimester twin-to-twin transfusion syndrome in a trichorionic quadruplet pregnancy--a diagnostic challenge.

We report the prenatal diagnosis of twin-to-twin transfusion syndrome (TTS) at 11 weeks' gestation. The diagnosis was made in a trichorionic quadruplet pregnancy which was conceived after in vitro fertilization and intracytoplasmic sperm injection for male subfertility and transfer of 3 embryos. Growth discordance, oligo/polyhydramnios and abnormal arterial and venous Doppler flows were demonstrated in 2 monochorionic fetuses, while the remaining 2 dichorionic fetuses were unremarkable. Selective fetocide of the donor by intracardiac injection of potassium chloride was followed by the spontaneous demise of the recipient. The pregnancy course remained uneventful until 32 weeks of gestation when the patient developed preterm labor. Two healthy preterm babies were delivered by cesarean section. The diagnostic problems of this early manifestation of TTS are discussed.

Comparison of ductus venosus blood flow waveform indices of 607 singletons with 133 multiples at 10-14 weeks gestation. An evaluation in uncomplicated pregnancies.

Abnormal flow profiles in the ductus venosus during early pregnancy may aid in diagnosing chromosomopathies, malformations, congenital heart disease, and twin-twin transfusion syndrome in monochorionic twins. Whereas reference values of ductus venosus flow velocities and waveform indices for the late first and early second trimester have been reported in singletons, similar reference values for multiple pregnancies have not been established in this age group. Therefore, the aim of the present ultrasound study in 119 multichorionic and 14 monochorionic multiples in human fetuses between 10-14 weeks of gestation was to establish reference values for ductus venosus flow waveform indices for multiple pregnancies. Data in multiples were compared with those of 607 singletons. Analysis of the ductus venosus (DV) flow velocity waveforms consisted of the calculation of the pulsatility index (PIV) and peak velocity index (PVIV) for veins. Comparing the data of singletons and multichorionic multiples, no statistically significant differences were observed between the two groups in any of the assessed Doppler parameters. The DV Doppler parameters of the 14 monochorionic twins that were analysed separately in order to avoid any potential bias from preclinical twin-twin transfusion syndrome were also found within the normal ranges. In the study population fetal heart rate did neither significantly correlate with PIV nor with PVIV. PIV and PVIV decreased from 10 to 14 weeks gestation. A 2.9% rate of absent or reverse flow during atrial contraction in normal fetuses at 10-14 weeks gestation was found and needs to be taken into consideration when this pattern is defined abnormal in screening tests for fetal chromosomopathies or congenital heart disease.

Normal values of fetal ductus venosus blood flow waveforms during the first stage of labor.

OBJECTIVE: To present normal values of fetal ductus venosus blood flow waveforms during the first stage of labor during and between contractions. MATERIALS AND METHODS: Seventy-eight women between the 37th and 41st weeks of gestation were included in the study. At distinct stages of cervical dilation, blood flow velocity waveforms of the fetal ductus venosus during and between contractions were visualized in fetuses with a normal non-stress test. The pulsatility index for veins, peak velocity index for veins and fetal heart rate were calculated off-line. The means +/- standard deviations (SD) during and between contractions were compared using the Wilcoxon test. RESULTS: Ductus venosus blood flow velocity waveforms were visualized during 331 contractions and 375 episodes of uterine quiescence in 74 of 78 fetuses (95%) during normal labor. The mean +/- standard deviation values of pulsatility and peak velocity indices for veins during contractions were 1.66 +/- 0.85 (median: 1.56, range: 0.29-4.69) and 1.46 +/- 0.65 (median: 1.34, range: 0.26-3.13), respectively. Between contractions the values were 0.48 +/- 0.19 (median: 0.46, range: 0.14-1.00) for the pulsatility index and 0.44 +/- 0.18 (median: 0.42, range: 0.14-1.00) for the peak velocity index for veins. These differences during and between contractions were highly significant (P-value < 0.0001), whereas the fetal heart rate showed no significant differences. CONCLUSION: There are significant differences in fetal ductus venosus blood flow waveforms during and between labor contractions. Further studies should evaluate whether these normal values of the fetal ductus venosus are beneficial for risk evaluation in fetuses with an abnormal non-stress test and/or intrauterine growth restriction.

First-trimester diagnosis of fetal hepatic cyst.

Fetal intra-abdominal cysts seen on antenatal sonography pose a diagnostic problem as they may have many etiological origins. We present a case of a hepatic cyst measuring 11 x 7 x 7 mm that was diagnosed at 13 weeks' gestation by transvaginal sonography. The cyst increased in proportion with the growth of the fetus. Ultrasound-guided needle aspiration of the cyst at 22 weeks' gestation helped to clearly identify the formerly displaced gall bladder and demonstrated the intrahepatic location of the cyst. The aspirated fluid was identified as bile. After aspiration the fluid reaccumulated rapidly. Shortly prior to delivery the cyst measured 75 x 44 x 46 mm. At 39 weeks of gestation a female infant was delivered by forceps (3610 g; Apgar 9/10/10 at 1, 5 and 10 min, respectively). Increasing cyst size and concomitant feeding problems prompted surgery on the 14th day postpartum. A large hepatic cyst was partially excised and marsupialized, confirming the prenatal diagnosis. The postoperative course was complicated by cholangitis, septicemia and recurrence of the cyst. Therefore Roux-en-Y hepatojejunostomy was performed in the second month of life. The postoperative period was uneventful and the child was doing well at the time of writing.

Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.

OBJECTIVE: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. DESIGN: A retrospective case series. SUBJECTS: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999. METHODS: All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two-dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed. RESULTS: During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder. CONCLUSION: Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late-trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized.

Biometry of the fetal heart between 10 and 17 weeks of gestation.

OBJECTIVES: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. METHODS: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. RESULTS: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13-17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1. 10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. CONCLUSION: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.