Treatment of growth-restricted human fetuses with amino acids and glucose supplementation through a chronic fetal intravascular perinatal port system.

OBJECTIVE: Intrauterine growth restriction (IUGR) carries an increased risk of mortality and morbidity. The accepted procedure to treat IUGR fetuses is premature delivery, which may increase neonatal mortality and morbidity and retards neonatal brain development. MATERIAL AND METHODS: We report here on intravascular supplementation with amino acids and glucose of an IUGR human fetus at 33 weeks of gestation with oligohydramnios and placental insufficiency using the port system (Norfolk Medical Products, Skokie, Ill., USA). The catheter was implanted into the umbilical vein (UV) by cordocentesis, and was then connected to a subcutaneously implanted port system. The treatment course included daily infusions of amino acid solution and 10% glucose into the UV. RESULTS: Daily intravascular fetal nutrition significantly improved both fetal condition and fetal weight gain. No complications were seen. The patient was delivered by cesarean section in the 38th week of gestation. The female newborn weighed 2,130 g and was 47 cm long. Blood sampling from the UV after delivery showed no deviations of amino acids in comparison to standardized curves. In one-year follow-up the child's development and weight gain was like that of children without IUGR in the anamnesis. CONCLUSION: This is the first report of the successful use of a subcutaneously implanted intravascular perinatal port system in IUGR human fetuses for long-term administration of nutriments into the UV of a fetus.

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.

Cardiac output following fetoscopic coagulation of major placental vessels in fetal sheep.

OBJECTIVES: To measure changes in cardiac output (CO) after partial cord occlusion in fetal sheep in order to investigate pathophysiological fetal adaptation mechanisms in a simulated acute placental insufficiency model under standardized conditions, with the aim of finding relevant methods for monitoring human fetuses during stress situations. METHODS: We used minimally invasive, percutaneous endoscopic techniques to close umbilical vessels in mid-gestational fetal sheep. Placental blood flow was reduced by preferentially closing first arterial and then the concomitant venous umbilical vessels within a short time interval. The investigations were carried out on 11 pregnant ewes at a median gestational age of 86 (range, 73-95) days. Major placental arteries and veins were occluded permanently by coagulation with bipolar forceps under percutaneous fetoscopic control. The fetal CO and Doppler parameters in the ductus venosus (DV), umbilical artery (UA) and umbilical vein (UV) were measured. RESULTS: In spite of heart rate reduction, the CO was not significantly affected by vessel occlusion (mean +/- SD, 500 +/- 194 mL/min before and 457 +/- 219 mL/min after coagulation) because stroke volume slightly increased from 2.65 +/- 1.16 mL/beat to 3.1 +/- 1.5 mL/beat. The right to left CO ratio remained at 1.4. The UV flow/combined CO ratio decreased from 34 +/- 14% to 25 +/- 10% after vessel coagulation. The pulsatility index in the DV increased from 0.4 +/- 0.1 to 0.7 +/- 0.4. The DV blood flow volume remained relatively constant after the intervention. The DV shunting rate, given as DV/UV flow ratio, increased significantly from 30.8 +/- 4.7% to 59.3 +/- 25.0%. CONCLUSIONS: The nearly simultaneous closure of arterial and venous umbilical vessels changed the flow pattern in the UA and significantly reduced placental blood perfusion. It did not distinctly change the blood flow volume rate through the DV, and consequently the DV shunting rate was increased. The combined CO was not significantly affected by the vascular obstruction, whereas the fraction of combined CO directed to the placenta was reduced.