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OBJECTIVE: To evaluate the safety and effectiveness of P-6 acustimulation for the relief of nausea and vomiting associated with early pregnancy. STUDY DESIGN: Forty-one patients were treated with a P-6 acustimulation device at the Division of Maternal-Fetal Medicine, Eastern Virginia Medical School. Pretreatment nausea severity, posttreatment nausea relief and device effectiveness were patient rated using a 1-5 scale. All neonates were evaluated for congenital abnormalities. RESULTS: Pretreatment nausea severity scores for treated patients averaged 4.2, with most severe and debilitating nausea rated 5. Posttreatment device effectiveness averaged 4.2, with significant or complete relief rated 5. Device ease of use averaged 4.3, with very easy to use rated 5. No congenital abnormalities were found. CONCLUSION: Because current pharmacologic treatments for nausea in early pregnancy are not consistent, efficacious or without unwanted side effects or increased teratogenic risks, acustimulation of P-6 in pregnancy may prove to be a significant therapeutic alternative.

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PURPOSE: An anonymous survey of IVF centers in the United States was employed to calculate frequencies of multiple gestation, monozygotic multiple gestation, and monoamniotic multiple gestation. Rates for zona-manipulated (ICSI, SUZI, zona drilling, mechanical assisted hatching) and non-manipulated pregnancies were compared. RESULTS: From 42 IVF centers in the United States, a total of 143 pregnancies was ascertained from zona-manipulated cycles. A multiple gestation frequency of 16.1% was reported. Five monoamniotic twin gestations were identified: four from manipulated cycles and one from a nonmanipulated cycle. All monoamniotic twin gestations resulted in live births, although three showed significant intrauterine growth discordance and one newborn was diagnosed with the VATER malformation sequence. CONCLUSIONS: Monoamniotic multiple gestations may be increased in zona-manipulated cycles. The potential obstetric risks and complications of zona manipulation should be discussed with patients.

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BACKGROUND: An increased frequency of hyperechogenic bowel on ultrasound has been reported in fetuses with cystic fibrosis (CF) and trisomy-21. However, the diagnostic application of this observation has been hampered by the absence of a means of measuring echogenicity. METHODS: We devised an ultrasonic grading system in which echogenicity was quantified by linear gain reduction and comparison with fetal iliac crest. From 7400 second-trimester ultrasound referrals, 145 patients were identified as having a fetus with abnormally echogenic bowel. They were offered genetic counselling, parental and (if appropriate) CF carrier testing, and amniocentesis for karyotype and CF status if parents were informative. Follow-up was to 4 months of age. FINDINGS: Of 40 fetuses with mild increase in bowel sonodensity (grade 1), none had CF or aneuploidy. Of 81 patients identified with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF. And of 24 pregnancies with a pronounced increase (grade 3), 5 had CF and 6 had trisomy-21. INTERPRETATION: Parental CF carrier testing and amniocentesis to identify aneuploidy or fetal CF status has a high positive ascertainment rate in fetuses with echogenic bowel grades 2 and 3.

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The recognition and treatment of fetal hypothyroidism are believed to be important to optimize growth and intellectual development in affected fetuses. We present a case of fetal goiter diagnosed by ultrasonography in the second trimester of pregnancy. Cordocentesis performed at 28 weeks confirmed the presence of fetal hypothyroidism. Fetal therapy was performed with weekly intra-amniotic injections of thyroxine from 29 to 36 weeks. A repeat cordocentesis at 35 weeks showed normalization of fetal thyroid function. The fetal goiter decreased rapidly in size following fetal treatment. Amniotic fluid levels of thyroid stimulating hormone (TSH) and free thyroxine were obtained with each amniocentesis. Sulfated iodothyronine concentrations in maternal blood were obtained before and after fetal thyroxine treatment. This report discusses the role of amniotic fluid levels of TSH and free thyroxine and maternal levels of sulfated iodothyronine in the diagnosis and management of fetal hypothyroidism. A review of the English literature is presented.

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OBJECTIVE: To determine the ability to apply preimplantation genetic diagnostic techniques to screen for and prevent Tay-Sachs disease (TSD). DESIGN: A couple, both carriers for the 4 base pair (bp) insertion in exon 11 of the beta-hexosaminidase A gene, which results in TSD, underwent IVF, pre-embryo biopsy, polymerase chain reaction (PCR) DNA amplification of the biopsied blastomeres, and pre-embryo transfer. One to two blastomeres were aspirated using a biopsy pipette that was inserted through an opening in the zona formed with acidified phosphate buffer. Polymerase chain reaction was performed on the individual blastomeres for 20 cycles followed by an additional 30 cycles using nested primers. This yielded amplified DNA products of 272 and 276 bp for the normal and mutant gene, respectively. Heteroduplex formation was used for identification of normal, homozygous affected, and heterozygous pre-embryos. RESULTS: Seven of 13 oocytes fertilized normally and were biopsied at the four- to eight-cell stages. Deoxyribonucleic acid amplification occurred in four of seven pre-embryos (one homozygous affected and three homozygous normal pre-embryos). The three normal pre-embryos that continued to cleave after biopsy were transferred on the evening of day 3 after retrieval. Subsequently, a single gestational sac was observed and the genetic diagnosis was confirmed at amniocentesis. CONCLUSION: A successful pregnancy and birth were accomplished after preimplantation genetic diagnostic screening for the prevention of TSD.

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OBJECTIVE: Pelvic bone abnormalities are common in newborns with Down syndrome. The aim of this study was to evaluate the utility of ultrasonographic iliac bone length measurement in the identification of fetuses with Down syndrome in the second trimester of gestation. STUDY DESIGN: Ultrasonographic iliac length measurement was obtained, in an axial view of the fetal pelvis, on 10 fetuses with Down syndrome and 180 karyotypically normal fetuses before genetic amniocentesis. Regression equations relating biparietal diameter to iliac length measurement were used to calculate ratios of observed-to-expected length, sensitivity, and specificity at various cutoff points. RESULTS: Linear regression of iliac length measurement on biparietal diameter for normal fetuses resulted in the following equation: iliac length measurement (centimeters) = -0.2723 + 0.0333 biparietal diameter (millimeters). Iliac length measurement in Down syndrome fetuses was significantly longer than in normal controls (p < 0.0001). A ratio of 1.21 for observed-to-expected iliac length measurement yielded a sensitivity of 40%, a specificity of 98%, and positive predictive values of 50% and 2.60%, respectively, in populations at risk for Down syndrome of 1 in 20 and 1 in 750. CONCLUSION: Iliac length measurement is increased in fetuses with Down syndrome. An observed-to-expected iliac length measurement of > or = 1.21 has a positive predictive value of 1/38 in a low-risk population with a false-positive rate of 2%. This preliminary study suggests that iliac length measurement may be useful as an ancillary screening variable in antenatal screening for Down syndrome.

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We report a case of third trimester spontaneous resolution of a nuchal cystic hygroma with pleural effusion in a fetus with Turner syndrome (45,X). The neonatal health of the infant was good. Our case description exemplifies difficult counseling issues involved with the detection of a cystic hygroma and provides documentation of resolution late in pregnancy.

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The sensitivity and specificity of maternal serum screening for Down syndrome with different biochemical markers were evaluated. Detection rates with different combinations of maternal serum alpha-fetoprotein (MSAFP), hCG, and unconjugated estriol (uE3) were established by retrieving and analyzing 54 serum specimens from women with confirmed Down syndrome pregnancies, compared with 657 specimens from women with normal outcomes. With a risk cutoff of 1:270 at the second trimester, the detection rate with MSAFP, hCG, and uE3 was two to three times higher than with MSAFP alone. With all three markers, the detection rate for Down syndrome increased from 50 to 77% as maternal age increased, and was 60% in a representative screened population. If uE3 was omitted, the detection rate decreased from 60 to 48%. One thousand women were screened prospectively, either with MSAFP or with all three markers prospectively, either with MSAFP or with all three markers and 4.1% with MSAFP. With the three markers, the positive predictive value for Down syndrome was 2.2% overall and as high as 5.9% in older women. Therefore, the addition of hCG and uE3 to the maternal serum screen increases the positive predictive value by 50-300%, depending on maternal age. These results confirm the efficacy of screening for Down syndrome using maternal age and three serum markers.

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Fetal sacrococcygeal teratoma (SCT) is being recognized with increasing frequency. Placentomegaly and hydrops fetalis are preterminal events, and it has been suggested that fetal death may be due to high-output cardiac failure from arteriovenous shunting through the tumor. We had a chance to examine this hypothesis when a 21-week fetus presented with a huge sacrococcygeal teratoma. There were marked placentomegaly, cardiomegaly, hyperdynamic ventricles, and a pericardial effusion. Doppler studies showed tremendous flow through the SCT with extreme enlargement of the inferior vena cava, consistent with congestive heart failure from increased flow through the tumor. Hydrops developed, and the fetus was delivered because of placental abruption. This case provides supportive evidence that the teratoma acts as a large arteriovenous shunt, causing high-output cardiac failure. We have now collected 18 more cases of sacrococcygeal teratoma diagnosed in utero. Of the total 45 cases of fetal SCT, 9 had placentomegaly and/or fetal hydrops and all 9 fetuses died in utero or shortly after birth. We conclude that the only hope for survival in these severely affected fetuses is to reduce blood flow to the tumor before birth.

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Bronchopulmonary sequestration with associated nonimmune hydrops has been previously reported with generally poor prognosis for the neonate. We report a case of bronchopulmonary sequestration and associated pleural effusion successfully managed with a transthoracic catheter placement. The embryology and clinical pathophysiology of bronchopulmonary sequestration are discussed.

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To evaluate the potential of in-utero transplantation of fetal haemopoietic stem cells (HSCs) for permanent engraftment as a treatment of congenital haemoglobinopathies, fetal rhesus monkeys were transplanted with HSCs derived from fetal livers. Five pregnant monkeys (60-62 days' gestation) were given an in-utero intraperitoneal injection of fetal liver cells (10(8)-10(9) cells/kg estimated fetal recipient body weight) derived from opposite sex donors at 59-68 days' gestation. Engraftment was confirmed by karyotype analysis of peripheral blood leucocytes and bone marrow; cells of donor sex were found among the recipient cells. Donor cell engraftment was apparent in four of five in-utero HSC transplant recipients at birth. Engraftment involved lymphoid (2.9-8.0% donor cells), erythroid (5.3-12.5%), and myeloid (8.5-15.4%) lineages and has persisted for up to 2 years without evidence of graft-versus-host disease.

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The absorbable stapling device was used in 22 hysterotomies in gravid rhesus monkeys. The efficacy of the device, subsequent fertility and delivery route, fetal effects, and pathohistology were all studied. No statistically significant difference between experimental and control animals was noted.

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New methods of prenatal diagnosis based on recombinant deoxyribonucleic acid techniques are assuming increased importance in obstetrics practice. Carrier detection and prenatal diagnosis of Duchenne muscular dystrophy were performed with the use of three intragenic probes and four restriction enzymes to test six polymorphic sites. Twenty-seven families at risk for Duchenne muscular dystrophy were studied. Eleven at-risk pregnancies were studied; two affected males and four carrier females were predicted. Some families with a single affected individual were shown to have had a spontaneous mutation and were therefore at a much lower risk in future pregnancies.

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Ten fetuses with gastroschisis on whom a prenatal sonographic diagnosis and evaluation were available and who delivered at the University of California, San Francisco, were evaluated retrospectively. Six fetuses were delivered vaginally without mortality and minimal or absent morbidity. Four were delivered abdominally, 2 for unrelated obstetrical indications. A 3rd fetus had a suspected prenatal bowel perforation and was the sole mortality. Only 1 mother underwent primary cesarean section, specifically due to the fetal gastroschisis. Umbilical cord pH values were normal in those delivered vaginally. With careful ultrasound examination and immediate neonatal surgical capability in a level III perinatal center, vaginal delivery of fetuses with gastroschisis can be associated with excellent outcome. A multinational randomized study of the delivery mode of fetuses with gastroschisis is necessary and appropriate at this time.

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