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Biomedical subjects

A E Donnenfeld

Publications and source records attributed to A E Donnenfeld.

At least 19 recordsLinked to original sources
PubMed2001

Prenatal diagnosis from cystic hygroma fluid: the value of fluorescence in situ hybridization.

OBJECTIVE: We sought to determine the optimal approach to the prenatal chromosome analysis of cystic hygroma fluid using traditional cytogenetic analysis and fluorescence in situ hybridization. STUDY DESIGN: A retrospective evaluation of our experience with traditional cytogenetic and fluorescence in situ hybridization analysis on cystic hygroma fluid was performed through a systematic review of the Genzyme Genetics database from January 1995 to July 2000. Information on gestational age, sample volume, clinical ultrasound findings (including fetal viability), cytogenetic results, fluorescence in situ hybridization results, and turn-around-time were queried. RESULTS: Eighty-three specimens were included in the investigation. The mean gestational age was 18.1 weeks (range, 13-27 weeks), and the mean sample volume was 20.7 mL (range, 0.1-101 mL). Of the 72 samples in which > 5 mL of cystic hygroma fluid was available, the success rate for cytogenetic analysis was 76% (55/72 samples). In 11 specimens of < or = 5 mL of cystic hygroma fluid, cytogenetic analysis was successful in only 1 case (9%). Fluorescence in situ hybridization was attempted on 23 samples, 18 of which were successful (78%), including 6 of 9 cases of cell culture failure (67%). Both traditional cytogenetic analysis and fluorescence in situ hybridization were performed in 21 instances when a sample of > 5 mL was available. A successful result was obtained by either cytogenetic testing or fluorescence in situ hybridization analysis or both in 19 of 21 of these cases (90%). Samples of > 5 mL from viable fetuses had a higher cytogenetic success rate (80%) and fluorescence in situ hybridization success rate (89%) than samples from fetuses with intrauterine death (38% and 50% cytogenetic and fluorescence in situ hybridization success rates, respectively.) The mean turn-around time was 8.2 days (range, 4-17 days). Results were available in < or = 12 days in 91% of cases. There was a 91% aneuploidy rate identified, with 45,X occurring in 86% of the samples. CONCLUSION: We conclude that the optimal approach for the prenatal diagnosis of chromosome abnormalities from cystic hygroma samples is to perform both traditional cytogenetic studies and interphase prenatal fluorescence in situ hybridization evaluation for the most common aneuploidies that involve chromosomes 13, 18, 21, X, and Y. With this combined approach, our data indicate that, in viable pregnancies with a fluid sample of >5 mL, a 90% diagnostic success rate can be achieved.

Congenital Abnormalities↗
PubMed2000

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families 1, 2, and 3, nonsense mutations truncating the encoded protein N-terminal to or within the homeodomain produce typical limb and genitourinary abnormalities; in family 4, an expansion of an N-terminal polyalanine tract produces a similar phenotype; in family 5, a missense mutation, which alters an invariant domain, produces an exceptionally severe limb phenotype; and in family 6, in which limb abnormalities were atypical, no HOXA13 mutation could be detected. Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism.

Abnormalities, Multiple↗
PubMed1998

Therapeutic amniocentesis using a vacuum bottle aspiration system.

BACKGROUND: Therapeutic amniocentesis has been performed traditionally by gravitational drainage or syringe aspiration. We describe a technique for relatively rapid, large-volume therapeutic amniocentesis using a negative-pressure vacuum bottle aspiration system. TECHNIQUE: The procedure involves insertion of a 20-gauge spinal needle into the amniotic cavity followed by connection to a 1-L vacuum bottle via noncollapsible tubing. EXPERIENCE: During a 5-year period, 86 therapeutic amniocenteses were performed on 26 women. The amniotic fluid removal rate was 89 mL/minute. There were three instances of transient preterm labor, three cases of ruptured membranes within a week of the procedure, and no cases of abruption, chorioamnionitis, or fetal distress. CONCLUSION: The vacuum bottle aspiration technique for therapeutic amniocentesis permits expeditious removal of large volumes of amniotic fluid safely and effectively.

Amniocentesis↗
PubMed1998

The genetics of ovarian cancer: molecular biology and clinical application.

Ovarian cancer is the fifth most common malignancy among American women and the fourth leading cause of cancer death. The rapid advances in molecular genetic analysis, presymptomatic detection, and treatment of ovarian cancer are staggering. In this review, both the genetic component and the molecular biology of ovarian cancer are discussed, as well as current recommendations for genetic counseling. It is important for the practicing obstetrician and gynecologist to become familiar with these concepts, for it is he or she who will likely serve as a primary resource of information for these patients.

Breast Neoplasms↗
PubMed1998

Pregnancy outcome following gestational exposure to fluoroquinolones: a multicenter prospective controlled study.

Concerns regarding the teratogenicity of fluoroquinolones have resulted in their restricted use during gestation. This is despite an increasing need for their use due to emerging bacterial resistance. The objectives of the present investigation were to evaluate pregnancy and fetal outcomes following maternal exposure to fluoroquinolones and to examine whether in utero exposure to quinolones is associated with clinically significant musculoskeletal dysfunctions. We prospectively enrolled and followed up 200 women exposed to fluoroquinolones (norfloxacin, ciprofloxacin, ofloxacin) during gestation. Pregnancy outcome was compared with that for 200 controls matched for age and for smoking and alcohol consumption habits. Controls were exposed to nonteratogenic, nonembryotoxic antimicrobial agents matched by indication, duration of therapy (+/- 3 days), and trimester of exposure. Rates of major congenital malformations did not differ between the group exposed to quinolones in the first trimester (2.2%) and the control group (2.6%) (relative risk, 0.85; 95% confidence interval, 0.21 to 3.49). Women treated with quinolones had a tendency for an increased rate of therapeutic abortions compared with the rate among women exposed to nonteratogens (relative risk, 4.50; 95% confidence interval, 0.98 to 20.57), resulting in lower live-birth rates (86 versus 94%; P = 0.02). The rates of spontaneous abortions, fetal distress, and prematurity and the birth weight did not differ between the groups. Gross motor developmental milestone achievements did not differ between the children of the mothers in the two groups. We concluded that the use of fluoroquinolones during embryogenesis is not associated with an increased risk of major malformations. There were no clinically significant musculoskeletal dysfunctions in children exposed to fluoroquinolones in utero. The higher rate of therapeutic abortions observed in quinolone-exposed women compared to that for their controls may be secondary to the misperception of a major risk related to quinolone use during pregnancy.

Abnormalities, Drug-Induced↗
PubMed1997

Haloperidol overdose during pregnancy.

BACKGROUND: Suicide attempts during pregnancy are rare. Over-the-counter and psychotropic medications are most commonly used. Although intentional overdose of haloperidol has been reported in nonpregnant adults, it has not, to our knowledge, been reported previously during pregnancy. In this case of suicide attempt by haloperidol overdose, maternal and fetal responses were studied extensively. CASE: Intentional ingestion of 300 mg haloperidol by a pregnant woman at 34 weeks' gestation caused maternal unresponsiveness, an extrapyramidal reaction, temporary fetal akinesia, and a nonreactive nonstress test. The mother recovered in 48 hours. The fetus did not reach a biophysical profile score of ten until 5 days after presentation. CONCLUSION: Haloperidol overdose during pregnancy causes a maternal extrapyramidal reaction, temporary fetal akinesia, and prolonged fetal neuromuscular depression.

Adult↗
PubMed1997

Fetal dysmorphology.

Explore the source record for details and available documents.

Congenital Abnormalities↗
PubMed1997

Concordant anencephaly in monoamniotic twins and an analysis of maternal serum markers.

Anomalies occur with greater frequency in twin gestations than in singleton pregnancies. Anencephaly is not an uncommon defect, but because of its multifactorial inheritance pattern, twins are usually discordant for this anomaly. We present a case of monoamniotic twins concordant for anencephaly. Monoamniotic anencephalic twins were diagnosed at 15 weeks' gestation. Normal interval growth occurred until intrauterine demise of both fetuses at 28 weeks. Maternal serum obtained at 16.5 weeks demonstrated low unconjugated oestriol (uE3) levels and elevated values of alpha-fetoprotein, although this result was lower than expected. Human chorionic gonadotropin (hCG) levels were significantly elevated. Monoamniotic twins concordant for anencephaly occur with extreme rarity. To our knowledge, maternal serum uE3 and hCG levels in fetuses concordant for neural tube defects have not been previously reported.

Adolescent↗
PubMed1996

The safety of calcium channel blockers in human pregnancy: a prospective, multicenter cohort study.

OBJECTIVE: Our purpose was to examine the potential teratogenicity of calcium channel blockers. STUDY DESIGN: Six teratogen information services prospectively collected and followed up 78 women with first-trimester exposure to calcium channel blockers. Pregnancy outcome was compared (by paired t text of chi2 analysis) with that of a control group matched for maternal age and smoking. RESULTS: There was no increase in major malformation (2/66=3.0% [calcium channel blockers] vs 0% [nonteratogenic controls], p=0.27); a fivefold increase was ruled out (baseline 2%, alpha = 0.05, beta = 0.20). The defects reported were attributable to maternal diabetes or coingestion of teratogens. The increase in preterm delivery 28% [calcium channel blockers] vs 9% [nonteratogenic controls], p=0.003), attributed to maternal disease by stepwise regression, was the most important factor responsible for the observed decrease in birth weight (mean -334 gm vs nonteratogenic controls, p=0.08). CONCLUSION: This study suggests that calcium channel blockers do not represent a major teratogenic risk.

Abnormalities, Drug-Induced↗
PubMed1995

Dandy-Walker malformation in the Meckel syndrome.

The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes.

Abnormalities, Multiple↗
PubMed1995

Ultrasound-adjusted risk and spectrum of fetal chromosomal abnormality in women with elevated maternal serum alpha-fetoprotein.

OBJECTIVE: To determine the incidence of chromosomal abnormality in sonographically normal fetuses after amniocentesis for elevated maternal serum alpha-fetoprotein (MSAFP), and to compare the spectrum of abnormality with that seen in women undergoing amniocentesis for advanced maternal age. METHODS: Cytogenetic and sonographic findings from women undergoing amniocentesis for elevated MSAFP (at least 2.0 multiples of median) between 1988-1992 were reviewed retrospectively. The literature was reviewed and data compiled regarding the risk of chromosomal abnormality for women with elevated MSAFP levels. RESULTS: The incidence of abnormal karyotype among all women with elevated MSAFP was 1.23% (nine of 733). The risk of an abnormal karyotype with a normal ultrasound examination was 1.01% (seven of 696). This included three fetuses with sex chromosome abnormalities, three with de novo, apparently balanced rearrangements, and one with an unbalanced structural rearrangement. CONCLUSIONS: The risk of chromosomal abnormality in nonselected patients, predominantly younger than 35 years of age, with elevated MSAFP and a sonographically normal fetus is 0.6%, based on a compilation of our data and reports published previously. The spectrum of abnormality in women with elevated MSAFP differs from that in women of advanced maternal age. Patients should be specifically counseled regarding this difference.

Adult↗
PubMed1995

Interobserver variability of sonographically determined second-trimester nuchal skinfold thickness measurements.

Twenty physicians experienced in fetal sonographic evaluation obtained fetal nuchal skinfold thickness measurements in each of five pregnant women between 16 and 18 weeks' gestation. A random effects analysis of variance model was used to explore the sources of variation in the set of measurements, to determine the interobserver variability of sonographically measured second-trimester nuchal skinfold thickness. It was possible to obtain 96 measurements. Four measurements (all in the same patient) were deemed unobtainable due to fetal position. All recorded measurements were between 1.7 and 4.5 mm. The means (and ranges) for the five patients were 2.7 (1.7-3.6), 2.9 (2.0-4.5), 2.7 (2.0-4.0), 3.3 (2.2-4.0), and 2.7 (1.8-4.0) mm. The standard deviation for interobserver variability, caused by the combined effect of physician and machine imprecision, was 0.56 mm and the overall coefficient of variation was 19.8%. Interpatient differences were statistically significant (p = 0.004). Interphysician differences were not (p = 0.11). We conclude that experienced physician sonographers using high-resolution ultrasound equipment are able to obtain second-trimester nuchal skinfold thickness measurements within 1.1 mm of the estimated true value with 95% probability.

Analysis of Variance↗
PubMed1995

Fetal akinesia.

Normal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can result in a particular pattern of abnormal fetal morphogenesis. This phenotype is termed the fetal akinesia deformation sequence (FADS). The etiology of fetal akinesia may be generally classified into one of five categories: neuropathy, myopathy, restrictive dermopathy, teratogen exposure, or restricted movement due to intrauterine constraint. In this article, the differential diagnosis of fetal akinesia is systematically reviewed and information regarding prenatal diagnosis, prognosis, perinatal management, and recurrence risks are discussed.

Congenital Abnormalities↗
PubMed1995

Prenatal sonographic detection of isolated fetal choroid plexus cysts: should we screen for trisomy 18?

It has been established that the finding of a fetal choroid plexus cyst confers an increased risk of aneuploidy, predominantly trisomy 18. In view of this association many investigators have advocated amniocentesis when a choroid plexus cyst is identified by prenatal ultrasonography. A risk/benefit and economic analysis of such a policy is presented. When the following factors are taken into account-published data on the frequency of isolated choroid plexus cysts in second trimester fetuses, the risk of trisomy 18 in these fetuses, the population frequency of trisomy 18, the natural history and prognosis for these infants, and the risks and cost of amniocentesis--it is concluded that performing amniocentesis on second trimester fetuses with choroid plexus cysts is neither cost effective nor beneficial. For the detection of one infant with trisomy 18 that will survive past five months, 25 normal fetuses would be lost owing to amniocentesis. Identification of trisomy 18 by determining the presence of choroid plexus cysts in fetuses is not a worthwhile screening policy.

Aneuploidy↗