Fetal therapy最新文献

A case of non-immune fetal hydrops, diagnosed as mucopolysaccharidosis VII with hypoalbuminemia, was treated in utero with albumin transfusions via cordocentesis on five occasions. Blood samples were taken for analysis of full blood count and blood gases before and after the transfusions. Pulsed Doppler ultrasound examinations of the arterial waveform were performed in the umbilical arteries and the descending fetal aorta and analyzed for the pulsatility index (PI). The hemoglobin concentration and the hematocrit decreased from 111 +/- 5 g/l and 0.335 +/- 0.008 to 95 +/- 5 g/l and 0.282 +/- 0.023 (mean +/- SD), respectively, after the transfusions. The calculated blood volume increased more than the given volume, indicating an autotransfusion causing additional plasma volume expansion. The blood gases were not significantly changed by transfusion. The PI decreased both in the umbilical arteries (p less than 0.05) and the descending fetal aorta, indicating peripheral vasodilatation. A positive correlation was found between the umbilical artery PI and the hematocrit before and after the albumin transfusion (r = 0.59; p less than 0.05). This relation could be due to covariation with other factors, e.g. peripheral vasodilatation secondary to the increased blood volume and the puncture of the umbilical vein itself. No improvement of the hydrops was seen after the albumin transfusions. The fetus died in utero during spontaneous labor after 30 gestational weeks.

Data from 99 intra-uterine transfusions performed in 30 patients (31 fetuses) with Rh allo-immunization have been reviewed. Mean gestational age at the first transfusion was 23.6 weeks and mean fetal haematocrit 19.8%. The number of procedures was on average 3.2 per fetus. Survival rate was 84%. Fifty-nine intravascular transfusions were combined with intraperitoneal transfusions. Combined intravascular and intraperitoneal transfusions, when compared to intravascular transfusions alone, achieved a significantly longer interval between transfusions and also maintained a higher fetal haematocrit at the subsequent transfusion. Mean fall in fetal haematocrit was 0.98% per day with a wide range. There was a general tendency towards a less marked fall during the second interval between transfusions than in the first with the exception of those cases in which the percentage of fetal red cells at the start of the second transfusion was increased compared to that which was found at the end of the first, i.e., when fetal erythropoiesis was not suppressed.

Fetal blood sampling by cordocentesis was performed in 85 cases of fetuses with either nonimmune hydrops fetalis, anomalies, intrauterine growth retardation, maternal immunological disorders, Rh incompatibility, hydronephrosis, polyhydramnios, maternal preeclampsia or fetal tumor. Fetal heart rate monitoring was also recorded before cordocentesis. We evaluated the usefulness of the nonstress test (NST) with regard to fetal hematologic gas profiles including pH, pO2 and pCO2. When the acceleration was classified into reactive and nonreactive group, pH and pO2 were significantly higher in the reactive group than in the nonreactive group. pCO2 was significantly lower in the former than the latter. However, the sensitivity and specificity of the reactive NST predicting fetal umbilical venous pO2 over 20 mm Hg was 79.7 and 68.7%, respectively. The false-positive rate of nonreactive NST predicting hypoxemia below 20 mm Hg pO2 was 44%. As a consequence, we cannot always rely on the NST, and should perform fetal blood sampling to assess fetal condition for further management.

Carrier detection for lysosomal storage diseases is sometimes possible by evaluating maternal serum levels of specific enzymes. However, lysosomal enzymes (LE) can be modified by maternal hormonal changes in pregnancy or embryonic contributions. Maternal serum was obtained prospectively in the follicular phase and at 2-5 and 7-11 weeks after conception from 13 infertility patients with precisely known ovulation dates. Eleven enzyme activities were determined fluorimetrically using 4-methylumbelliferyl substrates. Using repeated measures ANOVA, alpha-N-acetyl-glucosaminidase (p less than 0.05), hexosaminidase A (p less than 0.005) and hexosaminidase A and B (p less than 0.005) increased during the first trimester, and 8 enzymes did not change significantly. Our data show differing patterns of LE in the first trimester. These may be explained by: (1) variability of maternal reaction to hormonal changes of pregnancy, or (2) variable embryonic contributions suggesting differential ontogeny and placental transfer of these enzymes. The increase in levels of the 3 specific LE in maternal serum may interfere with the accuracy of carrier testing in early pregnancy, but pregnancy should not interfere with the other 8.

In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oligohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45,X;47,XX+21; 47,XY+21; 46,XX/45,X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14-17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.

This study was designed to evaluate the association of placenta previa (PP) with cardiac anomalies in the fetus/neonate. The study group (n = 82 babies) was compared to a control group (n = 82) matched for maternal and gestational age. Five babies of the study group expired within 24 h of delivery, and postmortem examination was carried out in 4 of them. The living children of the control and study group (51 of the 77 babies) underwent complete cardiac workup including physical examination, ECG, chest X-ray and echocardiography. The incidence of congenital cardiac anomalies in the study group was significantly higher (Fisher exact test, p = 0.025). The obstetrician should refer the pregnant woman with PP for echocardiographic studies.

We present a first case in whom fetal hypothyroidism with goiter was both successfully diagnosed and treated in utero. An obstetrical sonogram at 33 weeks revealed a bilobed fetal neck mass, compatible with enlarged thyroid gland, associated with neck hyperextension, reduced gastric fluid, and polyhydramnios. Umbilical blood sampling after volume reduction amniocentesis confirmed fetal hypothyroidism with a euthyroid mother. Fetal T4 measured 1.3 micrograms/dl, free T4 0.3 ng/dl, and thyroid-stimulating hormone 186 microU. Intraamniotic levothyroxine, 500 micrograms, was given twice with a 14-day interval. The head flexed, gastric fluid increased, and amniotic fluid levels returned to normal. Prenatal (36 weeks) and neonatal blood sampling demonstrated return to euthyroid indices. Ultrasonic estimates of thyroid volume decreased by over 50%. Vaginal delivery at 39 weeks was uncomplicated. The newborn appeared normal and is being maintained on thyroid replacement therapy.

Some recent reports have suggested that invasive testing is unnecessary when ultrasound either confirms or refutes a neural tube defect (NTD). However, counseling for recurrence risks and the possibilities for in utero therapy would be significantly altered by an aneuploid karyotype. We report our experience with 53 pregnancies affected by NTD in which we found 13.2% of these fetuses with abnormal chromosomes. In view of the higher than previously published incidence of aneuploidy, we believe that fetal karyotypes are essential in the evaluation of all fetuses with NTDs.

The effect of maternal alcohol consumption on fetal compensatory adrenal hypertrophy following unilateral adrenalectomy was studied in rats. Females were given 20% alcohol in tap water for 4 weeks prior to mating and 30% alcohol in tap water throughout gestation (alcohol), or were pair-fed to the alcohol group (pair-fed) or were fed ad libitum (control). On day 20, fetuses were unilaterally left-adrenalectomized or sham operated. Mothers were sacrificed on day 22 of gestation and right adrenals of adrenalectomized, sham-operated, and unoperated fetuses were removed and weighed. Some adrenals were fixed, sectioned, and stained for histological examination. Adrenalectomized fetuses of all three dietary treatment groups demonstrated compensatory hypertrophy. Adrenals of alcohol-exposed fetuses weighed less than those of pair-fed or control fetuses, and the ratio of adrenal weight/body weight was greater, regardless of surgical procedure. Histological sections of right adrenals of left-adrenalectomized fetuses showed larger cells and widened sinusoids, compared to unoperated fetuses in the corresponding dietary treatment groups. These results are consistent with a retardation in adrenal growth and development as a result of alcohol exposure, but show that alcohol consumption throughout gestation does not affect the ability of the adrenals to undergo compensatory hypertrophy following unilateral adrenalectomy.