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Biomedical subjects

M I Evans

Publications and source records attributed to M I Evans.

At least 37 records · Page 2Linked to original sources
PubMed2000

Multifetal pregnancy reduction: perinatal and fiscal outcomes.

OBJECTIVE: This study was undertaken to compare the birth outcomes of a multifetal pregnancy reduction population with those of other patients delivered at Hutzel Hospital, Detroit, and to determine the fiscal impact of the multifetal pregnancy reduction program. STUDY DESIGN: In a retrospective review patients who were delivered after multifetal pregnancy reduction were compared with a general obstetric population who were delivered at Hutzel Hospital from January 1, 1986, through June 30, 1998. Outcome data were determined through a comprehensive perinatal database. The chi(2) analysis was used to examine the relationship between gestational age and delivery group. Financial data were estimated from published reports of neonatal intensive care unit admissions, cost estimates for neonatal intensive care unit care, and charges for multifetal pregnancy reduction. RESULTS: Pregnancies reduced to triplets, twins, and singletons had outcomes at least comparable to unreduced pregnancies starting at these numbers and substantially better than unreduced pregnancies with the same starting number. Financial estimates of hospitalization costs averted in the multifetal pregnancy reduction population exceeded $28 million. CONCLUSION: Use of multifetal pregnancy reduction improved obstetric outcomes for pregnancies with multiple gestations and also was associated with significant fiscal savings.

Cost Control↗
PubMed2000

Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes.

Fluorescence in situ hybridization (FISH) of chromosome-specific probes to interphase uncultured amniocytes was performed in cases in which follow-up amniocenteses were done for confirmation of previously detected mosaicism. FISH results were informative in all seven cases included in the study, and confirmed by subsequent cytogenetic analysis. FISH analysis provides rapid results for referral physicians and in most cases reassurance for patients within 24 hours of the follow-up aminocentesis. Although FISH studies are not considered accurate in determining a primary diagnosis of mosaicism in uncultured cells, the analysis is accurate and clinically useful when the diagnosis is known and mosaicism involving a specific chromosome needs to be confirmed in follow-up testing.

Amniocentesis↗
PubMed2000

Parental decision-making differences between patients in two healthcare systems for choroid plexus cysts.

We evaluated the medical-sociological implications of parental perception of risk and decision-making choices for prenatally ascertained choroid plexus cysts (CPC) between two obstetric populations. The Wayne State University (WSU) Reproductive Genetics database and the Madigan Army Medical Center (MAMC) experience were reviewed to compare the rates of aneuploidy and invasive testing for cases with CPC. Aneuploidy rates were compared between those with isolated CPC, CPC with advanced maternal age (AMA), and CPC associated with multiple anomalies. In the WSU cohort 186 cases were identified, of whom 27 (15%) declined invasive fetal testing. In the remaining 159 cases, aneuploidy was present in 2/132 (1.5%) isolated CPC, 3/11 (27%) CPC with AMA, and 15/16 (93%) CPC with multiple anomalies. In the MAMC cohort 107 cases were identified, of whom 99 (92%) declined invasive fetal testing. No aneuploidy cases were found in the 3/12 AMA cases or 5/95 non-AMA cases that underwent amniocentesis. The two cases of aneuploidy with isolated CPC cannot be ignored, and provide an estimated attributable risk of at least 0.8%, a higher risk than 38 years of age. However, the parental sociologic context may be as important for decision-making as the genetic-prognostic risk.

Abnormalities, Multiple↗
PubMed1999

Prenatal evaluation of a de novo X;9 translocation.

A case of X-autosome translocation was diagnosed prenatally [46,X, t(X;9)(p21.3 approximately 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of phenotypic abnormalities associated with functional partial disomy X and monosomy 9.

Adult↗
PubMed1999

Long-term outcome in children after antenatal intervention for obstructive uropathies.

BACKGROUND: Antenatal intervention has been done for fetal obstructive uropathy for over a decade, yet little is known about long-term outcomes. To assess the long-term implications of fetal intervention, we reviewed the outcomes of children who underwent vesicoamniotic shunt placement. METHODS: We reviewed the clinical outcomes of 14 children who underwent vesicoamniotic shunt placement at our institution and who survived beyond 2 years of age. FINDINGS: In 1987-96, 34 patients underwent vesicoamniotic shunt placement. 13 died and 21 survived, of whom 17 are now more than 2 years old. Three survivors were lost to follow-up. Mean age at follow-up was 54.3 months (range 25-114). Final diagnoses included prune belly syndrome (seven cases), posterior urethral valves (four), urethral atresia (one), vesicoureteral reflux (one), and megacystis (one). Height was below the 25th percentile in 12 (86%) with seven (50%) below the 5th percentile. Five (36%) had renal failure and had successful transplantation, three (21%) have renal insufficiency, and six (43%) have normal renal function. Seven (50%) are acceptably continent, five (36%) have not yet begun toilet-training, and two (14%) are incontinent. Three of four children with valves needed bladder augmentation. INTERPRETATION: Antenatal intervention may help those fetuses with the most severe forms of obstructive uropathy, usually associated with a fatal neonatal course. Intervention achieves outcomes similar to less severe cases that are usually diagnosed postnatally.

Catheters, Indwelling↗
PubMed1999

Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report.

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.

Alleles↗
PubMed1999

Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: case report.

Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associated with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestation demonstrated growth parameters consistent with 20 weeks' gestation; a 7-mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening. The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gestation. The infant died neonatally.

Adult↗
PubMed1999

Selective termination for structural, chromosomal, and mendelian anomalies: international experience.

OBJECTIVE: Our purpose was to evaluate the outcomes of selective termination for fetal anomalies at 8 centers with the largest known experiences worldwide. STUDY DESIGN: Outcomes in 402 cases of selective termination in pregnancies with dizygotic twins from 8 centers in 4 countries were analyzed by year, gestational age at procedure, and indication. Reductions of fetuses were as follows: 2 to 1, n = 345; 3 to 2, 39; >/=4 to 2 or 3, n = 18. Potassium chloride was used in all procedures. RESULTS: Selective termination resulted in delivery of a viable infant or infants in >90% of cases. Loss up to 24 weeks occurred in 7.1% of cases in which the final result was a singleton fetus and in 13.0% of cases in which the final result was twins. Loss was 6.6% as a result of structural abnormalities, 7.0% for chromosomal abnormalities, and 10% for mendelian abnormalities (difference not statistically significant). Loss rates for procedures were as follows: 9-12 weeks, 5.4%; 13-18 weeks, 8.7%; 19-24 weeks, 6.8%; and >/=25 weeks, 9.1% (difference not statistically significant). Mean gestational age at delivery was 35.7 weeks. No differences were seen in outcomes by maternal age. The rate of very early premature deliveries has fallen in recent years. There were no known cases of disseminated intravascular coagulation or serious maternal complications. CONCLUSION: (1) Selective termination, in the most experienced hands, can be technically performed in all 3 trimesters with good outcomes in >90% of cases. (2) The previously observed increase in second- versus first-trimester losses has diminished. (3) Third-trimester procedures, where legal, can be performed with a good outcome for the surviving fetus.

Chromosome Aberrations↗
PubMed1999

Second-trimester maternal serum marker screening: maternal serum alpha-fetoprotein, beta-human chorionic gonadotropin, estriol, and their various combinations as predictors of pregnancy outcome.

OBJECTIVE: We evaluated the value of all 3 common biochemical serum markers, maternal serum alpha-fetoprotein, beta-human chorionic gonadotropin, and unconjugated estriol, and combinations thereof as predictors of pregnancy outcome. STUDY DESIGN: A total of 60,040 patients underwent maternal serum screening. All patients had maternal serum alpha-fetoprotein measurements; beta-human chorionic gonadotropin was measured in 45,565 patients, and 24,504 patients had determination of all 3 markers, including unconjugated estriol. The incidences of various pregnancy outcomes were evaluated according to the serum marker levels by using clinically applied cutoff points. RESULTS: In confirmation of previous observations, increased maternal serum alpha-fetoprotein levels (>2.5 multiples of the median) were found to be significantly associated with pregnancy-induced hypertension, miscarriage, preterm delivery, intrauterine growth restriction, intrauterine fetal death, oligohydramnios, and abruptio placentae. Increased beta-human chorionic gonadotropin levels (>2.5 multiples of the median [MoM]) were significantly associated with pregnancy-induced hypertension, miscarriage, preterm delivery, and intrauterine fetal death. Finally, decreased unconjugated estriol levels (<0.5 MoM) were found to be significantly associated with pregnancy-induced hypertension, miscarriage, intrauterine growth restriction, and intrauterine fetal death. As with increased second-trimester maternal serum alpha-fetoprotein levels, increased serum beta-human chorionic gonadotropin and low unconjugated estriol levels are significantly associated with adverse pregnancy outcomes. These are most likely attributed to placental dysfunction. CONCLUSION: Multiple-marker screening can be used not only for the detection of fetal anomalies and aneu-ploidy but also for detection of high-risk pregnancies.

Abruptio Placentae↗
PubMed1999

Multifetal pregnancy reductions of triplets to twins: comparison with nonreduced triplets and twins.

OBJECTIVE: Multifetal pregnancy reduction has been shown to improve survival rates in high-order multifetal pregnancies (>/=4). There is, however, some controversy as to whether multifetal pregnancy reduction improves pregnancy outcomes of triplets reduced to twins. The purpose of this study was to evaluate this issue by comparing outcomes of triplet gestations undergoing reduction to twins with outcomes of nonreduced twin gestations and expectantly managed triplet gestations. STUDY DESIGN: The study included 143 triplet pregnancies that underwent reduction to twins over a 10-year period at a single center. These were compared with 12 nonreduced triplet pregnancies from the Wayne State University Perinatal Database and with 2 groups of twin pregnancies: 605 from the Wayne State University Perinatal Database and 207 from the Quest Diagnostics Database. RESULTS: The miscarriage rate for expectantly managed triplets was 25%, compared with 6.2% for triplets reduced to twins. This rate was similar to the rates for both groups of nonreduced twins: 5.8% (Quest) and 6.3% (Wayne State University). Severe prematurity occurred in 25% of nonreduced triplets compared with 4. 9% of twins after reduction. This rate was also similar to that of nonreduced twins: 7.7% (Quest) and 8.4% (Wayne State University). The mean gestational age at delivery for expectantly managed triplets (32.9 +/- 4.7 weeks) was significantly shorter than for triplets reduced to twins (35.6 +/- 3.1 weeks). By comparison, nonreduced twins had a mean gestational age at delivery of 35.8 +/- 3.9 weeks for Quest and 34.4 +/- 3.6 weeks for Wayne State University. Mean birth weights were significantly lower in expectantly managed triplets as compared with triplets undergoing reduction to twins (1636 +/- 645 g vs 2381 +/- 602 g, respectively). Nonreduced twins had a mean birth weight of 2254 +/- 653 g for Quest and 2123 +/- 634 g for Wayne State University. Pregnancy loss rates, mean length of gestation, and mean birth weight did not vary significantly between triplets who underwent reduction to twins and nonreduced twins. CONCLUSIONS: Reduction of triplets to twins significantly reduces the risk for prematurity and low birth weight and may also be associated with a reduction in overall pregnancy loss. This suggests that multifetal pregnancy reduction of triplets to twins is a medically justifiable procedure not only from an actuarial viewpoint but also from the ethical perspective of supporting patients' autonomy and respect for patients' individual circumstances.

Abortion, Spontaneous↗
PubMed1999

Temporal expression of the transgenic human protamine gene cluster.

OBJECTIVE: To ascertain the fidelity of expression of the genes from the transgenic human sperm-specific nuclear packaging protamine-1-->protamine-2-->transition protein-2 (PRM1-->PRM2-->TNP2) locus. DESIGN: Controlled human transgene study. SETTING: Basic science laboratory. ANIMAL(S): Age-matched transgenic and nontransgenic mice. INTERVENTION(S): Transgenic mice containing the human protamine locus were mated. One testis from each offspring was frozen at -80 degrees C and the other was preserved in formalin. MAIN OUTCOME MEASURE(S): The temporal expression of the human and mouse protamines was evaluated by Northern blot analysis. Orientation of the transgenic locus was determined by Southern blot analysis. Tissue morphology was assessed histologically. RESULT(S): Conservation of transgenic morphology was confirmed. Head-to-tail integration of the PRM1--> PRM2-->TNP2 locus was shown. Temporal expression of the mouse and human protamine genes was maintained in the transgenic state. CONCLUSION(S): These results show that the head-to-tail concatomer of the PRMI-->PRM2-->TNP2 locus contains all the necessary elements for appropriate temporal expression while maintaining testicular structure and function.

Aging↗
PubMed1999

International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.

The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities. We attempt here to determine, in principle, what percentage of abnormalities would be detectable if only CSP-FISH were performed without karyotype for prenatal diagnosis. A total of 146 128 consecutive karyotypes for prenatal diagnosis from eight centres in four countries for 5 years were compared with predicted detection if probes for chromosomes 13, 18, 21, X and Y were used, and assuming 100% detection efficiency. A total of 4163 abnormalities (2.85%) were found including 2889 (69. 4%) (trisomy 21, trisomy 18, trisomy 13, numerical sex chromosome abnormalities, and triploidies) which were considered detectable by FISH. Of these, 1274 were mosaics, translocations, deletions, inversions, rings, and markers which would not be considered detectable. CSP-FISH is a useful adjunct to karyotype for high risk situations, and may be appropriate in low risk screening, but should not be seen as a replacement for karyotype as too many structural chromosome abnormalities will be missed.

Chromosome Aberrations↗
PubMed1999

Screening for aneuploidy.

Over the past 15 years, biochemical screening for chromosomal abnormalities, particularly Down's syndrome, has advanced from being extremely naive, to now somewhat more sophisticated. Sensitivities have gone from 20% to 60-70%. Considerable work is still required to not only increase the sensitivity, but also the specificity to keep health care costs down.

Aneuploidy↗
PubMed1999

The future of newborn screening belongs to obstetricians.

Newborn screening has been a mainstay of genetic testing for several decades. Molecular biological techniques, pervasive in genetics and in medicine, are shifting the focus of such testing from enzymology to molecular diagnosis. Concomitant developments in the isolation of fetal cells from maternal blood enable molecular analysis to be performed not just postnatally, but in fact as early as the late first trimester. Potential advantages of first trimester prenatal diagnosis of those disorders currently performed postnatally include more reproductive options for couples, and, in selected cases, the fact that certain genetic disorders can be treated much earlier in development, thereby potentially ameliorating the sequelae of these disorders. Thus, the future of newborn screening will belong as much to the obstetrician as to the pediatrician, if not more so.

Female↗
PubMed1999

p53 tumor suppressor gene expression in the mouse ovary during an artificially induced ovulatory cycle.

OBJECTIVE: To evaluate the expression of p53 in the mouse ovary during an artificially induced ovulatory cycle. STUDY DESIGN: Ovulation induction was performed using pregnant mares' serum gonadotropin/human chorionic gonadotropin (PMSG/hCG). First, a p53 promoter-chloramphenicol acetyl transferase (CAT) transgenic mouse model was used. Protein samples from ovaries of transgenic mice were assayed for CAT activity as evidence of p53 promoter activation. Next, RNA extracted from CD-1 mouse ovaries was used for reverse transcription/polymerase chain reaction (PCR) and northern blot analysis using a p53-specific probe. RESULTS: Increased CAT activity was noted in transgenic mice treated with PMSG/hCG as compared with controls. PCR studies on transgenic mice using primers for CAT and on CD-1 mice using primers for wild type p53 substantiated this observation. Furthermore, CAT assay and northern analysis, performed on samples obtained at serial time intervals from induction, indicated that maximal p53 expression occurs around the time of ovulation, beginning 48 hours after PMSG and peaking 6-12 hours after hCG administration. CONCLUSION: The temporal expression of p53 in the ovary during a PMSG/hCG artificially induced ovulatory cycle may indicate a role for p53 in processes of differentiation of granulosa cells into luteal cells.

Animals↗
PubMed1998

Determinants of parental decisions after the prenatal diagnosis of Down syndrome.

We evaluated demographic factors and factors specific to the current pregnancy, and their relationship to the decision to continue or terminate a pregnancy after prenatal diagnosis of Down syndrome. All cases of Down syndrome (DS) managed at a tertiary care center from 1989-1997 were retrospectively analyzed with respect to maternal age, parity, gestational age, sonographic findings, insurance status, and race. Of 145 cases of trisomy 21, 19 (13.1%) of women chose continuation of pregnancy, while 126 (86.9%) chose termination. There were no differences between groups in parity, sonographic findings, insurance status, or race at the time of diagnosis. However, patients who chose termination were significantly older and earlier in gestation than those electing to continue their pregnancy. When Down syndrome is diagnosed prenatally, the choice of termination is related to maternal age and gestational age, but only gestational age is a significant independent predictor of pregnancy termination.

Abortion, Eugenic↗