[Results of pregnancy termination for foetal congenital or chromosomal disorders or intrauterine foetal death by oral mifepristone and/or intravaginal misoprostol; results of a retrospective study]. / Uitkomsten van zwangerschapsafbreking wegens foetale congenitale of chromosomale afwijkingen en bij intra-uteriene vruchtdood door middel van mifepriston oraal en/of misoprostol vaginaal; resultaten van een retrospectieve studie.

OBJECTIVE: To evaluate the method of mifepristone and misoprostol for pregnancy termination during the second trimester or for intrauterine foetal death during the second or third trimester. The primary outcome measure was time to delivery. Secondary outcomes included: complication registration, need for pain relief and side effects. DESIGN: Retrospective study of medical records. METHOD: Data were collected from patients in whom labour was induced due to intrauterine foetal death or in whom pregnancy was terminated due to a severe foetal congenital or chromosomal disorder between 1 September 2002 and 1 September 2005 in the Amphia Hospital, Breda, the Netherlands. Patients who experienced premature rupture of membranes, spontaneous abortion, or in whom labour was induced by insertion ofa intra-cervical balloon catheter were excluded. RESULTS: A total of 99 patients were included in the study. The mean age was 32 years in the intrauterine foetal-death group and 33 years in the pregnancy-termination group. The median gestational age was 21 weeks at the time of intrauterine foetal death and 19 weeks at the time of pregnancy termination. The median duration of treatment was 10 hours (range: 1-29) for intrauterine foetal death and 8 hours (range: 3-39) for pregnancy termination; the difference was statistically significant (p = 0.02). The mean duration of treatment did not differ statistically significant between these groups. The proportion of patients who delivered within 24 hours was 96% in the intrauterine foetal-death group and 92% in the pregnancy-termination group. Surgical removal of placenta or partially retained placenta was performed in 33% of all patients. There was no statistically significant difference in the median duration of treatment in nulliparous and multiparous patients; however, the risk of surgical removal of placenta or partially retained placenta was 5-fold greater in the nulliparous group (p < 0.05). No cases of uterine rupture were reported. Overall, 6% experienced severe haemorrhage, 18% had fever, 15% had nausea and 5% had vomiting. Epidural anaesthesia and intramuscular pethidine were administered in 28% and 24% of patients, respectively. CONCLUSION: The median duration of treatment was longer in patients in whom labour was induced due to intrauterine foetal death than in those in whom pregnancy was terminated for foetal disorders. The incidence of secondary outcomes such as complications, need for anaesthesia and side effects were comparable to numbers from earlier studies with mifepristone and misoprostol.

Doppler colour flow mapping of fetal intracerebral arteries in the presence of central nervous system anomalies.

The adjunctive role of Doppler colour flow mapping in the evaluation of intracerebral morphology and arterial blood flow in the presence of normal and abnormal central nervous system morphology was determined. A total of 59 fetuses with suspected central nervous system pathology between 14 and 37 weeks of gestation was studied (median 31 weeks). One hundred and one fetuses with normal central nervous system anatomy between 14 and 37 weeks (median 19 weeks) served as controls. Visualisation of blood flow in one or more intracerebral arterial vessels was successful in more than 80% of normal fetuses. For the anterior, middle and posterior cerebral artery, the percentages were 63%, 89% and 45%, respectively, at 14-25 weeks and 74%, 100% and 55%, respectively, at 26-37 weeks of gestation. Intracerebral arterial flow identification was attempted in 52/59 (88%) affected fetuses. Identification of blood flow in one or more intracerebral arterial vessels was successful in 40/52 (77%) fetuses. End-diastolic flow velocities were present in at least one of the intracerebral arteries in 39/40 fetuses, absent in one case of hydrocephaly and raised in the presence of an intracerebral vascular tumour. Doppler colour flow mapping seems to provide only limited additional information on intracranial structural pathology.

Pre-eclampsia and trisomy 13.

A 41 year old multiparous woman with an uncomplicated obstetric history was referred because of pre-eclampsia. As ultrasonic examination revealed severe IUGR and multiple congenital anomalies, trisomy 13 was suspected and confirmed by amniocentesis. This chromosomal anomaly should be suspected in cases where pre-eclampsia is associated with abnormal fetal morphology.

Cordocentesis for rapid karyotyping in fetuses with congenital anomalies or severe IUGR.

The objective was to determine the role of percutaneous umbilical blood sampling (cordocentesis) as a rapid technique for chromosome analysis in a high risk obstetric population. Cordocentesis was attempted in 167 pregnant women (168 fetuses) with IUGR, a single anomaly or multiple anomalies. Gestational age ranged between 17 and 37 weeks. The procedure was successful in 152 (90%) fetuses with a blood sample withdrawan at first attempt in 80%. Neither technique was associated with any false negative or false positive findings. Postprocedural complications included one case of persistent fetal bradycardia, but no fetal death. In nine cases amniotic fluid was collected, resulting in 161 fetal blood or amniotic fluid samples for chromosome analysis. An abnormal chromosome pattern (n = 26) was established in 1/12 cases (8%) of severe IUGR, 6/88 cases (7%) with a single structural anomaly and 19/61 cases (31%) with multiple structural anomalies. In the presence of an abnormal chromosome pattern, the perinatal mortality rate was as high as 96%. There is a high association between multiple fetal anomalies and abnormal chromosome pattern.

Tertiary centre referral of small-for-gestational age pregnancies: a 10-year retrospective analysis.

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2.3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.

Prenatal ultrasonic diagnosis of obstructive bowel disease: a retrospective analysis.

Fetal obstructive bowel disease was diagnosed in 29 patients at 22-37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69,XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic 'double bubble' sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).

Doppler colour flow imaging of fetal intracerebral arteries and umbilical artery in the small for gestational age fetus.

OBJECTIVE: To assess with Doppler colour flow imaging whether a brain-sparing effect is present in all cerebral arteries of the circle of Willis in the small for gestational age fetus, to determine which cerebral flow velocity parameter is most discriminating in this pathological condition, and to relate this parameter to the umbilical artery pulsatility index. DESIGN: Prospective, cross-sectional, matched case-control study. SETTING: Academic department of obstetrics and gynaecology. SUBJECTS: Twenty-eight small for gestational age fetuses and 28 normal controls at 24 to 38 weeks of gestation. INTERVENTIONS: Blood flow velocity waveforms from the umbilical and fetal intracerebral arteries were studied with Doppler colour flow imaging for measurement of peak systolic, end-diastolic and time averaged velocities, and calculation of the pulsatility index. MAIN OUTCOME MEASURES: Comparison of intracerebral and umbilical artery waveform parameters between small for gestational age fetuses and controls. RESULTS: Acceptable flow velocity waveforms were obtained in the intracerebral circulation in more than 85%. In small for gestational age fetuses, all intracerebral arteries displayed reduced downstream impedance. The end-diastolic velocities of the middle and anterior cerebral artery are the most discriminative factors between small for gestational age fetuses and controls. The highest sensitivity was reached for the umbilical artery pulsatility index. CONCLUSIONS: Doppler colour flow imaging allows easy identification of fetal intracerebral arterial vasculature. Whereas for the intracranial vasculature, the end-diastolic blood flow velocities in the anterior and middle cerebral artery are the most sensitive parameters discriminating between small for gestational age and controls, umbilical artery pulsatility index remains the best indicator for the small for gestational age fetus.

Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases.

Forty-four fetal abdominal wall defects, consisting of 31 omphalocoeles, 11 cases of gastroschisis, and two body stalk anomalies (which are excluded from further analysis), were diagnosed at 12-39 weeks (median 26 weeks) of gestation. In 10/31 (32 per cent) cases of omphalocoele and in 4/11 (36 per cent) cases of gastroschisis, multiple congenital anomalies were diagnosed. A normal amount of amniotic fluid was present in 39 cases; in three cases of omphalocoele an abnormal amount of amniotic fluid (polyhydramnios, n = 2; oligohydramnios, n = 1) was seen. Prenatally, intrauterine growth retardation (IUGR) was diagnosed in each type of anomaly only once, although the birth weight was below the tenth centile in 23 per cent of omphalocoeles and in 36 per cent of cases of gastroschisis. An abnormal prenatal karyotpye was established in 5/25 (20 per cent) cases of omphalocoele versus none in the gastroschisis group. In 36 cases an expectant obstetric management was followed, and in six cases of omphalocoele the pregnancies were terminated because of severe multiple anomalies (n = 3) or an abnormal prenatal karyotype (n = 3). The preterm delivery rate (excluding terminations) was 12/25 (48 per cent) in the omphalocoele subgroup versus 8/11 (73 per cent) in the gastroschisis subgroup. The Caesarean section rate was almost identical (19 versus 18 per cent) in both subgroups; the majority (n = 5) were performed to protect the abdominal wall defect. The overall survival rate was 39 per cent in the omphalocoele group; in all surviving infants this was the sole congenital anomaly and in each instance there was a normal karyotype. In the gastroschisis group, 8/11 (72 per cent) infants survived, of which two children also displayed unilateral hydronephrosis.

Fetal renal artery flow velocity waveforms in the presence of congenital renal tract anomalies.

Colour Doppler flow mapping of the renal arteries and subsequent pulsed Doppler measurement of impedance to flow in these vessels were attempted in 33 fetuses with postnatally confirmed renal pathology. The majority presented with unilateral or bilateral hydronephrosis (n = 21) and bilateral renal agenesis (n = 8). Renal artery blood flow could be visualized in all, except for the eight cases of bilateral renal agenesis. Bilateral flow velocity recordings were collected in six out of 12 cases of bilateral hydronephrosis and in five out of nine cases of unilateral hydronephrosis. The pulsatility index (PI), as a measure of downstream impedance, was in the normal range in 16 out of 18 kidneys (88 per cent) in bilateral hydronephrosis and in 12 out of 14 kidneys (85 per cent) in unilateral hydronephrosis. The PI was significantly higher in severe hydronephrosis compared with mild hydronephrosis. In four cases of unilateral multicystic kidney, the PI was always higher on the affected side. Colour Doppler flow mapping and pulsed Doppler evaluation may be helpful in our understanding of renal vascularization in renal pathology and in confirming the diagnosis of renal agenesis.

Prenatal diagnosis of congenital cystic adenomatoid lung malformation: a report of seven cases.

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.

Preterm delivery rate and fetal outcome in structurally affected twin pregnancies: a retrospective matched control study.

Data from 23 twin pregnancies with one structurally affected fetus were compared with data from 23 twin pregnancies with proven absence of structural fetal anomalies and matched for maternal age, parity, and year of delivery. The preterm delivery rate (< 37 weeks) was high in both groups but not significantly different (57 vs. 48 per cent). Perinatal mortality was significantly higher in the structurally affected twin pregnancies (65 vs. 9 per cent). In the affected twins, birth weight of the anomalous fetus was significantly lower than that of the normal co-twin. Since there was no difference in the incidence of maternal disease (hypertensive disorders, diabetes), it was concluded that the higher perinatal mortality was determined mainly by the nature of the anomaly and not by the preterm delivery rate.

Heparin-induced thrombocytopenia and fat necrosis of the breast.

Fat necrosis of the breast is a well-known complication following trauma, surgery, or radiotherapy. The present paper describes a rare case of fat necrosis after heparin-induced thrombocytopenia. The mammographic, sonographic, and MR evaluation and pathologic correlation after a 1-year follow-up period are reported.

Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome: a case report.

At 20 weeks of gestation, a typical combination of a massive enlargement of the right fetal leg and multiple cystic lesions was detected at ultrasound examination. Color-coded Doppler examination revealed no arteriovenous fistulae. These findings allowed an in utero diagnosis of the Klippel-Trenaunay-Weber syndrome, which was confirmed after subsequent termination of the pregnancy. The severe malformation involved the upper and lower right leg. No arteriovenous fistulae were found.

Prenatal diagnosis of congenital diaphragmatic hernia: a retrospective analysis of 28 cases.

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10.5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.