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E Pergament

Publications and source records attributed to E Pergament.

At least 37 records · Page 2Linked to original sources
PubMed1998

Factors associated with maternal cell contamination in amniocentesis samples as evaluated by fluorescent in situ hybridization.

OBJECTIVE: To determine which patient- and procedure-related factors contribute to maternal cell contamination in uncultured amniocentesis fluid. METHODS: One hundred thirty amniotic fluid (AF) samples were obtained by three operator groups: maternal-fetal medicine faculty (n=50), general obstetrician gynecologists (n=50), and obstetrics and gynecology residents supervised by maternal-fetal medicine faculty (n=30). These groups were designated "most," "intermediate," and "least experience," respectively. Study variables were recorded at the time of the procedure. Amniotic fluid cells from male fetuses underwent fluorescent in situ hybridization. Maternal cell contamination was calculated by analyzing 100 cells and determining the number of XX and XY cells. A control system was created to validate the methods used for AF processing and cell counting. RESULTS: Median maternal cell contamination was 2.0%. Maternal cell contamination did not vary with body mass index (r=-.13, P=.14), gestational age (r=.08, P=.35), or placental location (P=.55). Maternal cell contamination was significantly elevated with placental penetration (6.0% compared with 1.0%, P < .001), two passes (27.5% compared with 2.0%, P=.002), blood-tinged fluid color (14.0% compared with 2.0%, P < .001), and operator inexperience ("intermediate experience" compared with "most experience," 4.5% compared with 1.0%, P=.026). Maternal cell contamination did not differ between the "most experience" and "least experience" groups (1.0% compared with 2.0%, not significant). Concordance between detected and actual maternal cell contamination in the control system was extremely high (concordance coefficient=0.98, P=.008), confirming the validity of the techniques used. CONCLUSION: Our techniques of cell counting and maternal cell contamination calculation are accurate. Maternal cell contamination is increased with placental penetration, two passes, and operator inexperience. However, with expert supervision, inexperienced physicians can perform amniocentesis without an increase in maternal cell contamination.

Amniocentesis↗
PubMed1997

Urorectal septal defects in a female and her offspring.

We report on a patient with an ectopic urethra opening into a septate vagina which was distended with urine. The anus and rectum were normal but separated from the urogenital sinus by a thin septum. After surgical repair the patient did well with the exception of recurrent urinary tract infections. At 16 years, she delivered a healthy boy by Cesarean section but miscarried a subsequent pregnancy 3 years later. The 12-13 week female fetus lacked a urethra and had an atretic vagina and cloacal anomalies consistent with a urorectal septum developmental defect. This report provides evidence that cloacal anomalies resulting from the improper development of the urorectal septum may have a genetic cause. Furthermore, we support the proposition previously set forth by Allen and Husmann [J Urol 145:1034-1039, 1991] that such anomalies be referred to as urorectal septal defects rather than cloacal anomaly variants. This terminology accurately represents the developmental defect and clearly distinguishes them from cloacal exstrophies, which are due to the abnormal development of the cloacal membrane and the subumbilical ventral abdominal wall.

Abortion, Missed↗
PubMed1996

Isolated hypoplastic left heart syndrome in three siblings.

BACKGROUND: Reports of recurrent isolated hypoplastic left heart syndrome have been infrequent, and the genetic basis of this occurrence is not well understood. CASE: A 32-year-old woman with a noncontributory medical and family history terminated her first pregnancy after the fetus was diagnosed with hypoplastic left heart syndrome. Chromosomes were normal and no extracardiac anomalies were found at autopsy. In one subsequent pregnancy, a healthy live-born neonate was delivered, but in two other pregnancies isolated hypoplastic left heart syndrome was diagnosed again. CONCLUSION: Parents with an infant affected with hypoplastic left heart syndrome have been quoted a recurrence risk of 2%. The occurrence of isolated hypoplastic left heart syndrome in three siblings suggests that this anomaly has an autosomal recessive mode of inheritance. Consequently, the possibility of a recurrence risk higher than 2% should be included during counseling.

Abortion, Eugenic↗
PubMed1996

Isolated fetal pyelectasis: assessment of risk for postnatal uropathy and Down syndrome.

Eight-two consecutive fetuses with ultrasound evidence of isolated pyelectasis (defined as dilation in the antero-posterior renal pelvic dimension of > or = 4 mm) were prospectively followed to determine the risk of postnatal uropathy and Down syndrome. In 98 (60%) kidneys, isolated pyelectasis was shown to be the first manifestation of a pathophysiological process that evolved into a gamut of postnatal uropathies (defined as urological conditions requiring remedial surgery or extended medical surveillance). Data quantifying the risk for postnatal uropathy in fetuses with varying degrees of isolated pyelectasis, at different gestational ages, are presented in figure format to facilitate prenatal counselling. Bivariate analysis showed that the evolution of isolated pyelectasis to uropathy was statistically significant when in utero progression was noted or in conjunction with other findings including contralateral pyelectasis (p < 0.01), male gender (p < 0.01) and increased kidney length (p < 0.001). Importantly, 55% of the infants requiring corrective surgery demonstrated in utero progression of pyelectasis (p < 0.002). Serial ultrasound examinations were necessary to evaluate progression or regression in the extent of pyelectasis. Finally, isolated pyelectasis was associated with an increase risk for Down syndrome, beginning at maternal age of 31 years, in the interval of 16-20 week's gestation.

Adult↗
PubMed1995

Expression of SRY transcripts in preimplantation human embryos.

We have examined the expression of SRY mRNA in individual in vitro fertilized preimplantation human embryos; because of ethical constraints, these studies were confined to embryos with one and three pronuclei. Using a sensitive reverse transcriptase-polymerase chain reaction (RT-PCR) assay, we observed SRY mRNA at the one-cell through the blastula stages but not in spermatozoa. These results indicate that the de novo transcription of this sex-specific gene occurs at a developmental time considerably earlier than that of gonadal differentiation. Our results also indicate that in vitro fertilized embryos with one pronucleus are likely to be diploid.

Adult↗
PubMed1995

Isolated hyperechoic fetal bowel: significance and implications for management.

OBJECTIVE: The objective of this study was to determine the significance of isolated hyperechoic fetal bowel. STUDY DESIGN: Forty-five cases with prospective, ultrasonographic diagnosis of isolated hyperechoic fetal bowel were reviewed. Fetal variables, including aneuploidy, deoxyribonucleic acid studies for cystic fibrosis, congenital infection, growth retardation, and intrauterine death were reported. RESULTS: Thirty-four of the 45 cases (76%) resulted in live-born infants without detected abnormalities. However, hyperechoic bowel was associated with cystic fibrosis in two cases (4%), congenital infection in two cases (4%), and fetal alcohol syndrome in one case. Termination of pregnancy was elected in three cases and intrauterine fetal death occurred in three cases (7%). Growth retardation was observed in five of 39 (13%) live-born infants. CONCLUSION: Isolated hyperechoic fetal bowel is associated with significant pathologic disorders. Women whose fetuses are diagnosed as having isolated hyperechoic bowel should be offered additional prenatal diagnostic options, including maternal serologic studies for congenital infection, fetal karyotype, and deoxyribonucleic acid testing for cystic fibrosis. In addition, continuing ultrasonographic evaluation of fetal growth and antenatal biophysical assessment should be considered.

Cystic Fibrosis↗
PubMed1995

Adverse pregnancy outcome after a false-positive screen for Down syndrome using multiple markers.

OBJECTIVE: To assess the relative risk of an adverse pregnancy outcome in women whose multiple-marker screening (maternal serum alpha-fetoprotein [MSAFP], unconjugated estriol [E3], and hCG levels, and age) indicating an increased risk for Down syndrome (more than 1:250) was not confirmed by amniocentesis. METHODS: Fifty-eight women with false-positive screens for Down syndrome were matched with a control group of 116 women whose screens indicated a risk for Down syndrome of less than 1:250. The risk for adverse pregnancy outcome was compared for the two groups, and the roles of MSAFP, unconjugated E3, and hCG as predictors of adverse pregnancy outcome were determined. RESULTS: Women with false-positive screens for Down syndrome were significantly different from their matched controls in the incidence of preterm delivery (20.6 versus 8.6%, respectively), preeclampsia (6.9 versus 0%), small for gestational age newborns (5.2 versus 0%), and fetal demise after 20 weeks' gestation (5.2 versus 0%). An adverse outcome occurred in 19 of 58 pregnancies (32.8%) in the study group and in 14 of 116 matched control pregnancies (12%) (odds ratio [OR] 3.5, 95% confidence interval [CI] 1.6-7.8; P < .01). Unconjugated E3 of 0.75 multiples of the mean (MoM) or less was significantly associated with adverse pregnancy outcome after controlling for the effects of MSAFP and hCG (OR 2.5, 95% CI 1.13-5.55; P < .02). CONCLUSION: One in three women with a false-positive screen for Down syndrome may experience an adverse pregnancy outcome. In this study, unconjugated E3 of 0.75 MoM or less appeared to be a better predictor of adverse pregnancy outcome than were MSAFP and hCG levels.

Adult↗
PubMed1995

Expression of transcription regulating genes in human preimplantation embryos.

Utilizing a sensitive reverse transcriptase-polymerase chain reaction (RT-PCR) assay system, the time course of mRNA expression of two transcription regulators, OCT4 and OCT6, was assessed in individual preimplantation human embryos. Examination of ova with three pronuclei and 1-cell through blastocyst stage embryos revealed that OCT4 mRNA was continuously expressed between the time of fertilization and 10+ cell stages, whereas OCT6 mRNA expression was not observed until the 10+ cell stage. The difference in the time of expression of OCT4 mRNA and OCT6 mRNA indicates that the two genes play differential roles in human embryogenesis. Nucleotide sequence homology for OCT4 and OCT6 among mammalian organisms supports the concept that genetic elements determining developmental events during embryogenesis are conserved in evolution.

Amino Acid Sequence↗
PubMed1994

Preimplantation genetics: a case for prospective action.

Preimplantation genetics describes a newly-emerging field in medical genetics, the consequence of the implementation of clinical preimplantation diagnosis and the likely future development of germ-line gene therapy. Given the existing clinical and laboratory difficulties already demonstrated in preimplantation diagnosis and the sensitive ethical issues surrounding genetic manipulation of human embryos, there is a need for 1) critical and objective evaluation of developments in this field by human and medical geneticists and 2) development of guidelines for research and clinical practice in the years ahead. We propose a course of prospective action for preimplantation genetics implemented through the newly-formed American College of Medical Genetics in order to address the ethics, safety, accuracy, cost, and overall merit of preimplantation genetics.

Advisory Committees↗
PubMed1994

Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization.

We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.

Adult↗
PubMed1994

Isolated choroid plexus cyst(s): an indication for amniocentesis.

OBJECTIVE: Our purpose was to prospectively evaluate the risk of chromosomal abnormalities associated with isolated choroid plexus cyst(s) in gravid women undergoing second-trimester ultrasonographic examination. STUDY DESIGN: During a 24-month period 9100 pregnant women underwent midtrimester ultrasonographic evaluation. Women with a fetal diagnosis of choroid plexus cyst(s) were offered amniocentesis and a repeat examination in 4 to 6 weeks. RESULTS: A diagnosis of choroid plexus cyst(s) was made in 102 fetuses (1.1%). In four of these fetuses multiple congenital anomalies were noted. Three of the four fetuses had a chromosomal abnormality, two trisomy 18 and one unbalanced translocation, t(3;13). In the remaining 98 fetuses the choroid plexus cysts were isolated findings, that is, there were no other ultrasonographically detected anomalies. Seventy-five of these 98 fetuses underwent amniocentesis. An abnormal karyotype was identified in four fetuses: three had Down syndrome (two trisomy 21 and one unbalanced translocation, t[14;21]), and one trisomy 18. The offspring of the 23 patients in which amniocentesis was declined were phenotypically normal. CONCLUSIONS: In our prospective study the risk of chromosomal abnormality with isolated choroid plexus cyst(s) was 1:25, a risk that exceeds the 1:200 risk of pregnancy loss after amniocentesis and the 1:126 and 1:260 risk for aneuploidy and Down syndrome, respectively, in a 35-year-old pregnant women during the midtrimester. These findings indicate that amniocentesis should be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s).

Adult↗
PubMed1994

Sexual differentiation and preimplantation cell growth.

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Blastocyst↗