Feto-amniotic shunting -- experience of six centres.

AIM: Foeto-amniotic shunting is an ultrasound-guided, therapeutic intervention for drainage of persistent intracavital fluid retention in severely affected foetuses with a high risk of mortality. In order to weigh up the comparatively high risk of intervention against the possible benefit, we evaluated the value of different indications, the complication rate and the time span of drains in situ. PATIENTS AND METHODS: We made a survey of all level III ultrasound centres of German-speaking countries from 1993 to 2001. Six level III centres returned the questionnaire: forty-seven foeto-amniotic shunting procedures were performed in 30 foetuses [megacystis in 18 foetuses (three of these with urinary ascites), hydrothorax in eight foetuses, hydronephrosis in two foetuses, cystic adenomatoid malformation of the lung in one foetus, ovarian cyst in one foetus]. RESULTS: The median gestational age at time of shunting was 23.5 (range 16 - 33) weeks, at time of delivery 35 (range 23 - 41) weeks. The median time span of drains in situ was 19 (range 0 - 170) days. Altogether 18 of 30 foetuses (60 %) had a benefit of foeto-amniotic shunting. CONCLUSION: The best possible selection of pregnancies which might profit from foeto-amniotic shunting is required. The decisive criteria are the underlying defect as well as the severity and progression of the disorder.

The clinical impact of magnetic resonance imaging in fetuses with central nervous system anomalies on ultrasound scan.

OBJECTIVES: Magnetic resonance imaging (MRI) was performed on fetuses with sonographically diagnosed central nervous system (CNS) anomalies to determine frequency and type of cases in which fetal MRI adds clinically relevant information. PATIENTS AND METHODS: Forty-three cases presenting with CNS anomalies by ultrasonography were investigated by MRI. The potential effect of MRI on parental counseling and pre- or postnatal management were the main endpoints. RESULTS: Fetal MRI confirmed the sonographic diagnosis in 28 of 43 cases, showed additional findings in 14 of 43 cases, and was inferior to sonography in 1 of 43 cases. The MRI diagnosis had therapeutic consequences in 11 of 43 patients, with the fetal MRI diagnosis influencing parental counseling in 8 of these 11 patients. Prenatal patient care was not influenced by the additional investigation with fetal MRI. CONCLUSION: MRI is well suited as additional imaging method in fetuses with CNS anomalies. Additional fetal MRI is particularly indicated if the findings might have a therapeutic consequence.

Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.

Fetal skeletal deformities - the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging.

OBJECTIVE: To evaluate the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging (MRI) in fetuses with skeletal deformities (SD). METHODS: Fourteen pregnant women of 21 - 34 weeks of gestation whose fetuses had SD on prenatal ultrasound (seven fetuses with spina bifida, four with complex malformation syndrome, two with scoliosis, and one with chondrodysplasia) were additionally investigated by fetal MRI using a 1.5T superconducting system with T1-and T2-weighted sequences in three section-planes. Main outcome measures were diagnostic accuracy, potential effect on parental counselling and influence on perinatal management of the additional investigation with fetal MRI. RESULTS: In 10 cases ultrasound had a better diagnostic accuracy than MRI concerning the diagnosis of SD. In four cases with spina bifida MRI provided additional information towards preoperative evaluation for neurosurgery. In five cases parental counselling was improved. There was no influence on perinatal management. CONCLUSION: MRI may provide additional information to ultrasound scan in fetuses with spina bifida and consecutive neurosurgery; in fetuses with other skeletal deformities additional information may be expected only in rare cases.

Foetal facial clefts: prenatal evaluation of lip and primary palate by 2D and 3D ultrasound.

INTRODUCTION: To examine whether three-dimensional ultrasound (3D US) is an accurate diagnostic method of clinical use in the ability to define the location and extent of facial clefting prenatally, compared to two-dimensional ultrasound (2D US). METHODS: 18 foetuses suspected or diagnosed to suffer from a facial cleft by 2D US were examined with a targeted 3D US. 2D US and 3D US results were compared with postnatal outcome. RESULTS: Comparison of the number of foetuses with a cleft lip + primary palate diagnosed correctly with 2D US with the results of adjunctive 3D US (true positive + true negative) showed that adjunctive 3D US correctly diagnosed more cleft lips (100 %; 15/15 foetuses vs. 66 %; 12/18 foetuses) and more cleft primary palates (100 %; 12/12 foetuses vs. 58 %; 7/12 foetuses). CONCLUSION: Interactive review of standardised 3D multiplanar images allows to systematically evaluate lip defects and abnormalities of the maxillary tooth-bearing alveolar ridge. The accuracy of adjunctive 3D ultrasound is superior to 2D ultrasound alone for extensive prenatal diagnosis of cleft lip with or without cleft primary palate.

Prenatal diagnosis of a giant foetal lymphangioma and haemangiolymphoma in the second trimester using 2D and 3D ultrasound.

Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. 2D and 3D US findings are presented and differential diagnosis, therapeutic options and prognosis are discussed.

Magnetic resonance imaging in foetuses with bilateral moderate ventriculomegaly and suspected anomaly of the corpus callosum on ultrasound scan.

OBJECTIVE: The diagnosis of anomalies of the corpus callosum (ACC) in foetuses with bilateral moderate ventriculomegaly (BMV) is difficult by means of ultrasound scan. The aim of this study was to examine the value of the additional investigation with magnetic resonance imaging (MRI) in foetuses with BMV and suspected ACC on ultrasound scan. Pathogenesis and clinical presentation of BMV and ACC are discussed. METHODS: 41 foetuses with central nervous system (CNS) anomalies on ultrasound scan were assessed by ultrasonography and MRI from 1999 to 2001. Eight of these 41 foetuses presented with BMV and suspected ACC on ultrasound scan and were prospectively included in the study. Foetal investigations with sonography and MRI were analysed with regard to diagnostic confidence; results were correlated with post partum findings. Six of these 41 foetuses presented with BMV without suspected ACC on ultrasound scan and were retrospectively analysed. RESULTS: Ultrasonography suspected ACC in 8 foetuses with BMV. MRI confirmed the presence of ACC in 4 of these 8 cases. MRI additionally showed ACC in two of the six retrospectively analysed foetuses with BMV without suspected ACC on ultrasound scan. Prenatal MRI diagnosis was confirmed after delivery in all cases. CONCLUSION: MRI is more sensitive than ultrasonography in the evaluation of ACC in foetuses with BMV. For prenatal screening ultrasound still remains the investigation of choice.

Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

Prenatal diagnosis of a supernumerary aberrant chromosome 9.

For counselling of parents, as well as to basically understand how chromosome aneuploidies affect embryonic or fetal development, it is of great importance to analyse and collect genotypes of fetuses with clinical anomalies. This report describes the first prenatal diagnosis of a supernumerary chromosome 9 with deletion of the chromosome region 9q34. Ultrasound examination in the 13th week of gestation detected increased nuchal translucency of 6.9 mm, fetal ascites and a pronounced facial anomaly. Hysteroscopic examination before curettage made it possible to describe this facial anomaly as a double-sided, median defect of the superior lip with protrusion of parts of intersegments. This report provides evidence that the absence of trisomy 9 in 9q34 does not prevent abnormal facial development.

Fetal ovarian cysts: development and neonatal outcome.

INTRODUCTION: The aim of the study was to evaluate the outcome of fetal ovarian cysts in relation to their size and ultrasonic appearance. METHODS: We retrospectively analysed pre- and postnatal charts of 61 infants with a prenatal diagnosis of ovarian cysts between 1991 and 2000. RESULTS: In a total of 61 fetuses 65 ovarian cysts were detected by transabdominal ultrasound: 35 (57 %) cysts on the left side, 22 (36 %) on the right side and 4 fetuses (7 %) had bilateral cysts. Three patients with uncomplicated cysts were lost to follow-up and one fetus with bilateral cysts died in the 27th week of gestation. In 17 cysts treatment was necessary. 14 cysts (all complicated) were operated after delivery because of persistence or enlargement. The histological results were either follicular or theca lutein cysts in 12 cases, one lymphangioma and one teratoma. Two cysts were aspirated in utero and one after delivery. In the remaining 40 fetuses, 43 cysts where only controlled by ultrasound. 8 cysts regressed before delivery and 35 cysts after delivery independent of their sonographic appearance. The mean diameter of cysts that required treatment was significantly different from the mean diameter of cysts that resolved spontaneously (6.8 [SD 2.4] cm vs. 3.3 [SD 0.8] cm; p < 0.01). CONCLUSION: Complicated cysts which do not regress should be treated either by laparotomy or laparoscopically after delivery. Uncomplicated cysts which exceed 5 cm could be treated by in utero aspiration or aspiration after delivery to avoid further complications. Cysts smaller than 5 cm, presenting the tendency to regress, should be left untouched independent of their sonographic appearance.

Stem cell marker expression in human trisomy 21 amniotic fluid cells and trophoblasts.

Down Syndrome is the most frequent genetic cause of mental retardation. Deregulation of specific differentiation processes is a major cause for the neuropathological cell features typical for this syndrome. The molecular mechanisms leading to Down Syndrome are likely to be operative from the very earliest time of embryonic/fetal development. We therefore analysed human amniotic fluid cell samples and cytotrophoblastic cells from placental biopsies, both with normal karyotypes and with trisomy 21, for the mRNA expression of stem cell marker genes. Here we describe for the first time that these human primary cell sources contain cells that express telomerase reverse transcriptase, leukemia inhibitory factor receptor, and bone morphogenetic protein receptor II. A specific difference between aneuploid and normal cells could not be detected. These data provide evidence that human amniotic fluid and cytotrophoblastic cell cultures might provide a new source for research on primary cell systems expressing these stem cell markers. In addition, it is suggested that early deregulation of the expression of these genes in the here analysed cell sources does not contribute to the molecular development of Down Syndrome.

The twin-twin transfusion syndrome - an unsolved problem.

AIM: We analysed the data of pregnancies with twin-twin transfusion syndrome (TTTS) in order to identify clinical factors present at the time of diagnosis which can be used to predict the outcome of the pregnancy. METHOD: We report prenatal sonographic findings, interventions and outcomes of 28 TTTS pregnancies over a three-year period. Patients were classified into stages of TTTS as follows: Stage I: bladder of donor visible, normal Doppler studies; Stage II: bladder of donor not visible, normal Doppler studies; Stage III: abnormal Doppler studies; Stage IV: hydrops. RESULTS: In nine pregnancies the infants did not survive the perinatal period (the first 28 days after delivery): the median gestational age at delivery was 24 (range 21 - 29) weeks; six of these nine pregnancies (66 %) were classified as stages III or IV. In five pregnancies one infant survived the perinatal period: the median gestational age at delivery was 28 (range 27 - 32) weeks; four of these five pregnancies (80 %) were classified as stages III or IV. In 14 pregnancies both infants survived the perinatal period: the median gestational age at delivery was 30.5 (range 28 - 39) weeks; two of these 14 pregnancies (14 %) were classified as stages III or IV. CONCLUSION: In pregnancies complicated by TTTS, the results of Doppler studies at the time of diagnosis represent the most important clinical factor predicting the outcome of the pregnancy. At the time of delivery, however, the predicted outcome is most directly linked to the gestational age.

[Complication rates of invasive intrauterine procedures in a centre for prenatal diagnosis and therapy]. / Zur Komplikationsrate bei invasiven, intrauterinen Eingriffen an einer pränataldiagnostischen Schwerpunktabteilung.

AIM: A retrospective analysis of all complications occurring after invasive prenatal procedures was performed in order to have exact data for patient information and quality control in our department. METHOD: During a period of two years 2256 invasive ultrasound-guided procedures were performed. With the help of a computer data base, the follow-up of 2066 patients was possible. We retrospectively investigated all cases of severe complications resulting in intrauterine foetal death or abortion within 14 days after the invasive procedure. RESULTS: Depending on the method of invasive testing there were different rates of severe complications in single pregnancies, which varied from 0.44 % up to 0.99 % (Amniocentesis [AC]): 0.74 %, late placental biopsy: 0.44 %, chorionic villi sampling: 0.99 %, cordocentesis: 0.75 %. The complication rate after AC was 1.49 % in younger, inexperienced colleagues compared to 0.58 % in specialists for prenatal medicine. The complication rate in twin pregnancies (AC) was 1.99 %. CONCLUSION: Before invasive prenatal procedures can be performed, detailed information has to be given to the patients. The exact rate of complications should be included in this information. More complicated invasive procedures should be centralized in a tertiary centre for prenatal medicine because wider experience of the investigators leads to a decreased rate of severe complications.

Dandy-Walker malformation as sonographic marker for fetal triploidy.

Fetal triploidy is a frequent reason for early abortion, and only few fetuses survive into the second trimester of pregnancy. Common sonographic markers for triploidy in the second trimester are severe asymmetric growth restriction (triploidy of maternal origin) and partial molar changes of the placenta (triploidy of paternal origin), together with structural fetal malformations. We report prenatal sonographic findings of thirteen triploid fetuses between 18 and 34 weeks' gestational age (eleven fetuses with 69, XXX, and two fetuses with 69, XXY). Intrauterine growth restriction (11/13 fetuses), oligohydramnios (8/13), bilateral cerebral ventriculomegaly (6/13), structural heart defects (4/13), and Dandy-Walker malformation or Dandy-Walker variant (4/13) were the most frequent findings. We conclude that the Dandy-Walker malformation and Dandy-Walker variant should be considered as additional sonographic markers for fetal triploidy.

Evaluation of first trimester pregnancy in cases of threatened abortion by means of doppler sonography.

OBJECTIVE: Threatened abortion is one of the major problems in Obstetrics and applies to (1/3) of all pregnancies. The aim of this study was to establish normal ranges for Doppler indices of the flow velocity waveforms in uterine arteries (S/D, RI, PI) and ss-hCG serum concentrations in a control group in the first trimester of pregnancy. The obtained values were compared with those obtained in pregnancies threatened by abortion (6 - 11 weeks). METHODS: Investigated groups: 55 controls and 47 with symptoms of threatened abortion, 27 of them aborted. Ultrasound examinations were carried out by means of an endovaginal probe. Serum ss-hCG was determined by immunoenzymatic method. The standards for measured values were established based on means from measurements obtained in the control group in the corresponding week of pregnancy. RESULTS: We observed negative correlation between gestational age and RI and negative tendencies for S/D and PI indices in the control group. Positive correlation (p < 0.05) was found between ss-hCG serum concentration and gestational age (up to 9(th) week) and significant differences in ss-hCG concentrations between both examined groups. There were also statistical differences for S/D, RI and PI indices in both analyzed groups for each week of pregnancy. CONCLUSION: We conclude that measurement of the quality parameters of the flow velocity waveforms in uterine arteries and calculation of beta-hCG concentration in serum are useful methods in diagnosis of threatened abortion in the first trimester of pregnancy.