327 protein analysis to determine fetal kidney function

1
336 SPO Abstracts 324 TREATMENT OF ACARDIAC-ACEPHALUS TWIN GESTATIONS BY HYSTEROTOMY AND SELECTIVE DELIVERY. James D. Goldberg. .MJl..., Melissa H. Fries, M.D.x, Mitchell S. Golbus, M.D.x University of California, San Francisco. San Francisco, CAr The acardius twin syndrome is a rare complication of monozygotic twinning occurring in 1:35,000 births. Perinatal mortality has been reported to be 50-75%. We report our experience with three cases of acardiac-acephalic twin gestations treated by hysterotomy and selective delivery. Two cases resulted in delivery of a normal infant at 33-34 weeks gestation. In the third case, placental abruption shortly after the procedure resulted in fetal death. Factors that contributed to the success of the procedure include halothane anesthesia to produce maximal uterine relaxation, hysterotomy techniques to minimize blood loss, and tocolytic therapy. A coordinated plan utilizing indomethacin, magnesium sulfate, and subcutaneous terbutaline will be described. 325 Withdrawn at authors' request. .January 1 99 1 Am.J O hSlCl G }n eco l 326 IN UTERO FETAL MUSCLE BIOPSY FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY Ml..E'l.aM, A Greb X , H Kazazian X , AJ Sacks X , LM Kunkel X , MP Johnson X , C BoehmX, EP HoffmanX. Depts OB/GYN, Mol Bio & Genetics, Hutzel HospM'ayne State U, Detro.; Genetics, Johns Hopki'ls U, Battinore; & Boston Chid Hosp and Pediatrics, Harvard, Boston. Although DNA techniques have been available to prenatally diagnose DMD in at-risk males. inconclusive results may occur if there is not adequate linkage data or if there is not an identifiable deletion or alteration in the DMD gene. With the discovery of the dystrophin protein, confirmation of DNA diagnosis has been possible on biopsies of neonatal or abortus muscle. A 41-year old with a DMD son had a 46,XY by CVS . DNA showed no deletion, the fetus had inherited the same X chromosome as his affected brother, and Baysian analysis gave a 30% risk that this fetus had DMD as no other relatives were affected. The patient declined termination, abortus dystrophin analysis, and repeat pregnancy . In utero fetal muscle biopsy was therefore offered. At 19 weeks. under US guidance, a "Klear Kut" T M kidney biopsy needle was inserted percutaneously into the fetal buttock, and a biopsy was obtained. Dystrophin was found suggestive of a normal male . The pregnancy proceeded uneventfully to term. The baby has no scar and has normal CPK levels confirming normality. This first in utero experience adds fetal muscle biopsy to the armamentarium of fetal tissue diagnosis. 327 PROTEIN ANALYSIS TO OETERMINE FETAL KIONEY FUNCTION Holzgreve·, Arno Lison", Monika Bulla", Mark Evans Zentrum fiir Frauenbeilkunde Westf. Wilhelms-Universitat Miinster and Institute fiir Virologie und Infektionsepidemiologie Stuttgart Albert-Schweitzer-Str. 33, 0-4400 Miinster The San Fransisco Fetal Treatment Programme developed a method to determine in cases of sonographically detected fetal urinary tract obstruction the residual kidney function by prenatal needling of the bladder or kidneys and subsequent analysis of the sodium and chloride levels as well as the osmalarity in the fetal urine. In a group of 21 cases we used this San Fransisco profile (modified for gestational ages) and found that the prediction regarding renal dysplasia was incorrect in 4 instances. In all these cases the degree of tubular resorption damage indicated by the concentration of micromolecular proteins (molecular weight under 70.000) on polyacrylamide gel electrophoresis with sodium dodecyl sulfate as detergent (SOS-Page) was in agreement with the ultimate outcome of the pregnancy. In one of these cases with severe oligohydramnios and poor San Francisco profile a vesicoamniotic double pigtail catheter was inserted at 19 weeks based on a still adequate SOS-Page leading to the birth of an healthy child with good renal and pulmenary function. We, therefore, conclude that SOS-Page should be added to previously described fetal urinary function tests in cases of severeurinary tract obstructions.

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336 SPO Abstracts

324 TREATMENT OF ACARDIAC-ACEPHALUS TWIN GESTATIONS BY HYSTEROTOMY AND SELECTIVE DELIVERY. James D. Goldberg. .MJl..., Melissa H. Fries, M.D.x, Mitchell S. Golbus, M.D.x University of California, San Francisco. San Francisco, CAr

The acardius twin syndrome is a rare complication of monozygotic twinning occurring in 1:35,000 births. Perinatal mortality has been reported to be 50-75%. We report our experience with three cases of acardiac-acephalic twin gestations treated by hysterotomy and selective delivery. Two cases resulted in delivery of a normal infant at 33-34 weeks gestation. In the third case, placental abruption shortly after the procedure resulted in fetal death. Factors that contributed to the success of the procedure include halothane anesthesia to produce maximal uterine relaxation, hysterotomy techniques to minimize blood loss, and tocolytic therapy. A coordinated plan utilizing indomethacin, magnesium sulfate, and subcutaneous terbutaline will be described.

325 Withdrawn at authors' request.

.Janua ry 199 1 Am.J O hSlCl G }necol

326 IN UTERO FETAL MUSCLE BIOPSY FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (DMD~ Ml..E'l.aM, A GrebX,

H KazazianX, AJ SacksX, LM KunkelX, MP JohnsonX, C BoehmX, EP HoffmanX. Depts OB/GYN, Mol Bio & Genetics, Hutzel HospM'ayne State U, Detro.; Genetics, Johns Hopki'ls U, Battinore; & Boston Chid Hosp and Pediatrics, Harvard, Boston.

Although DNA techniques have been available to prenatally diagnose DMD in at-risk males. inconclusive results may occur if there is not adequate linkage data or if there is not an identifiable deletion or alteration in the DMD gene . With the discovery of the dystrophin protein , confirmation of DNA diagnosis has been possible on biopsies of neonatal or abortus muscle. A 41-year old with a DMD son had a 46,XY by CVS . DNA showed no deletion, the fetus had inherited the same X chromosome as his affected brother, and Baysian analysis gave a 30% risk that this fetus had DMD as no other relatives were affected. The patient declined termination, abortus dystrophin analysis, and repeat pregnancy. In utero fetal muscle biopsy was therefore offered. At 19 weeks. under US guidance, a "Klear Kut" T M kidney biopsy needle was inserted percutaneously into the fetal buttock, and a biopsy was obtained. Dystrophin was found suggestive of a normal male. The pregnancy proceeded uneventfully to term. The baby has no scar and has normal CPK levels confirming normality. This first in utero experience adds fetal muscle biopsy to the armamentarium of fetal tissue diagnosis.

327 PROTEIN ANALYSIS TO OETERMINE FETAL KIONEY FUNCTION Wolf~an~ Holzgreve·, Arno Lison", Monika Bulla", Mark Evans Zentrum fiir Frauenbeilkunde Westf. Wilhelms-Universitat Miinster and Institute fiir Virologie und Infektionsepidemiologie Stuttgart Albert-Schweitzer-Str. 33, 0-4400 Miinster

The San Fransisco Fetal Treatment Programme developed a method to determine in cases of sonographically detected fetal urinary tract obstruction the residual kidney function by prenatal needling of the bladder or kidneys and subsequent analysis of the sodium and chloride levels as well as the osmalarity in the fetal urine. In a group of 21 cases we used this San Fransisco profile (modified for gestational ages) and found that the prediction regarding renal dysplasia was incorrect in 4 instances. In all these cases the degree of tubular resorption damage indicated by the concentration of micromolecular proteins (molecular weight under 70.000) on polyacrylamide gel electrophoresis with sodium dodecyl sulfate as detergent (SOS-Page) was in agreement with the ultimate outcome of the pregnancy. In one of these cases with severe oligohydramnios and poor San Francisco profile a vesicoamniotic double pigtail catheter was inserted at 19 weeks based on a still adequate SOS-Page leading to the birth of an healthy child with good renal and pulmenary function. We, therefore, conclude that SOS-Page should be added to previously described fetal urinary function tests in cases of severeurinary tract obstructions.