Biomedical subjects

N B Isada

Publications and source records attributed to N B Isada.

At least 37 records · Page 2Linked to original sources

PubMed1992

Familial omphalocele: considerations in genetic counseling.

Nonsyndromal omphalocele is generally regarded as a sporadic malformation. Recurrence risk is considered negligible. We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele, although the patient's brother and his son had large umbilical hernias requiring repair in infancy. Some familial cases of nonsyndromal omphalocele have been previously reported; most such pedigrees suggest vertical transmission, although there are a few cases with only a single generation involved. In our case, the multigenerational finding of ventral wall hernias makes an autosomal dominant mechanism with variable expressivity a tenable explanation. The collected instances of familial nonsyndromal omphalocele emphasize omphalocele heterogeneity and caution in counseling recurrence risks.

Female↗

PubMed1992

Triply discordant triplets: probability, management options, and risks.

The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. Fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.

Abnormalities, Multiple↗

PubMed1992

Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: an adjunct to long-term culture and karyotype.

OBJECTIVE: This series was designed to assess in a pilot study the feasibility of using fluorescence in situ hybridization on chorionic villi. STUDY DESIGN: We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copylike signal when used in conjunction with suppression hybridization. RESULTS: In a blind series of 47 samples all, including one trisomy 21, were correctly identified. The samples were correctly classified as disomic for five chromosomes. CONCLUSIONS: The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization and detection allowed accurate chromosome enumeration in uncultured human chorionic villi; these results are consistent with those obtained by traditional cytogenetic analysis and suggest a use for fluorescence in situ hybridization as an adjunct to karyotyping when rapid results are needed.

Chorionic Villi↗

PubMed1992

The smaller than expected first-trimester fetus is at increased risk for chromosome anomalies.

OBJECTIVE: Intrauterine growth retardation associated with fetal chromosome anomalies is usually documented on ultrasonography late in the second trimester. However, we believe and attempt to document here that the impact of aneuploidy on fetal growth is evident much earlier (i.e., the aneuploid fetus may appear smaller than dates on ultrasonography even in the first trimester). STUDY DESIGN: For the population referred to our center for chorionic villus sampling from January 1988 to July 1991, we compared gestational age as calculated from the last menstrual period to that derived from fetal size as measured by crown-rump length. A cutoff of 7 days was chosen to select the study group. The remainder of our chorionic villus sampling population in which fetal size was expected was used as controls. We also divided those chorionic villus sampling patients by when a fetal death was observed by size. RESULTS: In the study period 3194 chorionic villus sampling procedures were performed and in 277 (8.7%) fetal length was smaller than expected by at least 7 days. Sixty (1.9%) chromosome anomalies were diagnosed by first trimester chorionic villus sampling in the study period. The frequency of chromosome anomalies was 4.3% in the study group and 1.7% in controls (p < 0.004). The more aberrant the karyotype on "postmortem chorionic villus sampling," the greater the growth retardation tended to be. CONCLUSIONS: In our chorionic villus sampling population a fetal crown-rump length smaller than dates is associated with a significant increase in risk of chromosome anomalies. Moreover, the larger the size-dates discrepancy, the higher the possibility that the aneuploidy affecting that pregnancy is of the severe or lethal type.

Adult↗

PubMed1992

Vaginal probe ultrasound guidance for internal jugular catheterization.

The use of ultrasound to assist needle cannulation of the internal jugular vein is well described. However, most ultrasound probes are too bulky to use easily on the neck. We describe a technique using a vaginal ultrasound probe to guide needle cannulation of the internal jugular vein. The small size of the vaginal probe permits visualization on the video screen of both the vein and the needle throughout the entire insertion of the needle, minimizing insertion attempts and preventing complications.

Catheterization, Central Venous↗

PubMed1992

First trimester interfetal size variation in well-dated multifetal pregnancies.

Sonographic measurements of multifetal pregnancy for dating and growth are considered identical to singleton pregnancies until the second trimester. Observations in 57 patients having triplets or more, who were referred for first trimester multifetal pregnancy reduction, suggest considerable size variability both within an individual pregnancy and among pregnancies of the same gestational ages (GAs). These data are unique because the GAs are precisely known, because the pregnancies were established by assisted reproductive technology. We observed a greater standard deviation at 12 and 13 weeks of GA. We also observed significant interfetal variation within an individual pregnancy. Because multifetal pregnancy reduction was performed, follow-up of any given fetus to term was not possible. We conclude that for high-order multiple gestations: (1) interfetal size variability begins much earlier than often stated; (2) differences in the degree of variability can be observed among different pregnancies of the same gestational age and within the same pregnancy, and (3) there is a trend for increasing variability with increasing gestational age.

Body Height↗

PubMed1992

Chorionic villus sampling: transabdominal versus transcervical approach in more than 4000 cases.

OBJECTIVE: To address the evolving trends in the choice of transabdominal or transcervical chorionic villus sampling (CVS) at a teaching hospital and to evaluate the influence of gestational age on the approach chosen. METHODS: We analyzed our CVS data base, which contained information from 1986-1991. The proportions of transabdominal and transcervical CVS were tabulated for each year. In addition, the distribution of the CVS approaches over the various gestational ages was examined. RESULTS: During the study period, 4290 CVS procedures were performed. The rate of the transabdominal technique was stable at about 15% per year except for the first 2 years, when essentially all procedures were transcervical. Use of transabdominal CVS increased with advancing gestational age, from 3.6% at less than 10 weeks' gestation to 97.6% at greater than 14 weeks (chi 2 = 120, P less than .001; r = 0.791). CONCLUSIONS: The choice between the transabdominal and transcervical approach to CVS largely reflects the route emphasized during the physician's training. When choice is based strictly on technical limitations due to placental position, the overall transabdominal CVS rate is approximately 15%. A shift from transcervical to transabdominal CVS occurs with increasing gestational age as the placenta gains bulk and moves away from the cervix. After 14 weeks' gestation, most procedures are performed transabdominally.

Chorionic Villi Sampling↗

PubMed1992

Determinants of parental decision to abort or continue after non-aneuploid ultrasound-detected fetal abnormalities.

OBJECTIVE: This study evaluated factors influencing the decision to abort after abnormalities in the karyotypically normal fetus were found through ultrasonography. METHODS: We reviewed all pregnancies complicated by ultrasound-detected abnormalities managed on our service from April 1990 through August 1991 (N = 262). Cases with associated karyotypic abnormalities were excluded (N = 35), as were cases diagnosed after the legal gestational age limit for abortion (N = 68). The remaining 159 cases were stratified into prognosis groups of "severe," "uncertain," and "mild." RESULTS: The prognostic severity of the ultrasound abnormality strongly correlated with the decision to abort (P less than .0001). Rates of termination were 0, 12, and 66% in the "mild," "uncertain," and "severe" groups, respectively. The patients' age, gravidity, and parity, and the fetal gestational age at diagnosis did not differ significantly between the groups. CONCLUSIONS: 1) In non-aneuploid pregnancies with an ultrasound diagnosis of fetal abnormality, the major predictor of the decision to abort was the severity of fetal prognosis. 2) The gestational age at diagnosis was not an important variable in the decision to abort for fetal structural abnormalities. 3) Parents who had fetuses with abnormalities associated with uncertain prognoses usually opted to continue the pregnancy. This appeared to be particularly true for defects that were potentially correctable in utero or by neonatal intervention (even if investigational).

Abortion, Induced↗

PubMed1992

TORCH infections. Diagnosis in the molecular age.

TORCH agents cause a varied spectrum of disease. Advances in ultrasound, invasive perinatal procedures and molecular diagnostics have allowed in utero evaluation. Infected fetuses, especially those which are sonographically abnormal, may be treated in utero depending upon the pathogen and attendant pathophysiology. Subclinical perinatal infections may lead to later childhood deficits. Such infected fetuses may benefit from early diagnosis and prompt initiation of rehabilitative measures.

Abbreviations as Topic↗

PubMed1992

Fetal intracardiac potassium chloride injection to avoid the hopeless resuscitation of an abnormal abortus: I. Clinical issues.

OBJECTIVE: With the intention of preventing the attendant medical, ethical, and legal problems arising from the birth of live-born, anomalous fetuses, we initiated a program offering fetal intracardiac potassium chloride injection as an adjunctive measure in the setting of genetically indicated second-trimester abortion. METHODS: A lethal fetal injection was offered to patients carrying chromosomally or structurally abnormal fetuses at 19-24 weeks' gestation who desired abortion. When the patient elected this procedure, real-time ultrasound guidance was used to inject 3-5 mL of potassium chloride (2 mEq/mL) directly into the fetal cardiac chambers, followed by observation of fetal heart activity to ascertain cessation. Labor was subsequently induced with uterotonic prostaglandins. RESULTS: The procedure caused immediate cessation of fetal heart motion in 20 of 21 cases. There were no maternal complications. No fetuses were live-born. CONCLUSIONS: Direct fetal intracardiac potassium chloride injection effectively causes immediate fetal cardiac arrest. This approach may be adopted in cases of abortion by labor-induction methods at advanced gestations to ensure that the abortus is stillborn.

Abortion, Eugenic↗

PubMed1992

Fetal intracardiac potassium chloride injection to avoid the hopeless resuscitation of an abnormal abortus: II. Ethical issues.

Following the diagnosis of a genetic anomaly, some couples choose to have a legal abortion. However, following later abortions at greater than 20 weeks, the rare but catastrophic occurrence of live births can lead to fractious controversy over neonatal management. To avoid this situation, we have added fetal intracardiac potassium chloride injection to cause fetal cardiac arrest before induction of labor. The ethical issues surrounding such a practice are complex. We support this practice for three reasons: 1) The women's decision for abortion is protected because this practice assures her right for non-interference; 2) potential psychological harm to the patient and other family members is avoided; and 3) the potential for coercive intervention by other health care personnel is eliminated. At least three objections can be raised: 1) All abortions are unjust; 2) newborns and second-trimester fetuses at similar weights with identical defects should be managed in like fashion; and 3) the patient is not entitled to death of the fetus, only to evacuation of the uterine contents. On balance, we believe that our approach is justifiable ethically as it reduces the burden of conflict between the wishes of the patient and those of the neonatal care givers. It should be introduced only in situations in which the likelihood of civil or criminal liability or unwarranted medical intervention is high.

Abortion, Eugenic↗

PubMed1991

In utero diagnosis of congenital varicella zoster virus infection by chorionic villus sampling and polymerase chain reaction.

Varicella zoster virus infection acquired in pregnancy is reported to cause fetal damage in 5% to 10% of cases. We used polymerase chain reaction to attempt molecular diagnosis of fetoplacental varicella zoster virus infection in two patients. Tissue obtained by chorionic villus sampling in the second trimester was analyzed by polymerase chain reaction with a varicella zoster virus-specific primer, ORF-63, and was found to be positive in both patients. Viral cultures were negative. One patient elected pregnancy termination at 23 weeks. Southern blot hybridization of neonatal brain tissue for varicella zoster virus was negative. The second patient carried the pregnancy to term and was delivered of a normal infant. Varicella zoster virus immunoglobulin M and viral cultures were negative. The presence of viral deoxyribonucleic acid sequences in placental tissue does not correlate with fetal disease.

Adolescent↗

PubMed1991

Effects of gestational weight gain in morbidly obese women: I. Maternal morbidity.

Current recommendations for appropriate weight gain in pregnancy suggest an optimum of 120% of ideal body weight (IBW) at delivery. This represents an increase of approximately 24 pounds in the normal weight woman and even the obese patient (more than 135% IBW) is told to gain 16 pounds. Information concerning gestational weight gain in the morbidly obese woman (more than 160% IBW) has not been reported. We evaluated 40 morbidly obese pregnant women for maternal morbidity relative to gestational weight gain. No correlation was found between maternal weight gain and the development of gestational diabetes, pregnancy-induced hypertension, preeclampsia, preterm labor, premature rupture of membranes, incompetent cervix, or intrauterine growth retardation. The incidence of primary cesarean delivery was statistically greater in those women gaining more than 24 pounds (p less than 0.05). It appears that current recommendations for gestational weight gain in the morbidly obese are excessive and may result in increased maternal risk.

Adult↗

PubMed1991

Albumin enhances chlamydial infectivity on human placental cells.

Chlamydia trachomatis (L2) adhere to and infect chorionic membrane in vitro. Similarly, chlamydiae pre-exposed to either chorion homogenate, newborn calf serum or pure bovine serum albumin display a higher infectivity against mouse fibroblast cells in vitro. Polyacrylamide gel electrophoresis of the chorion homogenate displays a peptide band which co-migrates with albumin. Isolated chlamydiae stripped of protein with trypsin and exposed to albumin-containing solutions are precipitated by both anti-chlamydia and anti-albumin antibody. These findings suggest that albumin may selectively adhere to the surface of chlamydiae and serve an intermediary role in the infectious process.

Animals↗

PubMed1990

Trisomy 22 with holoprosencephaly: a clinicopathologic study.

Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of the other twin were normal. Abnormal prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency of the trisomic fetus. Delivery by cesarean section at 36 weeks gestation yielded a normal healthy female weighing 2,822 grams and a markedly macerated dysmorphic male weighing 642 grams. Holoprosencephaly was found in the trisomic fetus, an unusual feature in trisomy 22. Additional findings in this case are compared to other findings in the literature.

Adult↗

PubMed1990

Effects of gestational weight gain in morbidly obese women: II: Fetal morbidity.

Recommended gestational weight gain is based on supplying adequate nutrition to the conceptus, ensuring normal growth and development. Since morbidly obese women have an overabundance of nutrients for fetal transfer, we examined the effects of weight gain on fetal outcome in women greater than 160% of ideal body weight. Gestational weight gains varied from -18 to +64 pounds, allowing analysis of fetal outcome based on maternal weight gain. No correlation between maternal weight gain and ketonuria, birthweight or length, placental weight, or Apgar scores was noted. Gestational age at delivery was inversely related to weight gain. When grouped by maternal weight gain, fetal outcome was no different if mothers gained less than or greater than 10 pounds. We conclude that limited weight gain in the morbidly obese women does not adversely affect fetal outcome, and prospective trials of limited weight gain diets in morbidly obese women are warranted.

Apgar Score↗

PubMed1990

Does the color of amniotic fluid still matter?

Second trimester amniotic fluid (AF) is generally clear or very light yellow. We examined the color of 2,141 AF samples. Fifty-six specimens were brown, 35 were green. There were 71 samples with abnormal karyotype (3.46%). In the group with brown AF, there were 7 abnormal karyotypes out of 56 (12.5%). There was 1 case of aneuploidy out of the 35 green samples (2.86%). We conclude that green AF in the second trimester, absent any other findings, carries no special significance, but brown AF carries a fourfold increased incidence of chromosomal aneuploidy in patients undergoing genetic amniocentesis.

Amniotic Fluid↗

PubMed1988

The effect of chronic steroid therapy on glucose tolerance in pregnancy.

We analyzed the records of 26 pregnant patients receiving chronic steroids to assess the combined effect of pregnancy and glucocorticoid administration on glucose tolerance. Five patients (19.2%) developed diabetes mellitus, four of whom required insulin. In a pregnant control group of 1325 patients, 53 patients (4.0%) developed diabetes mellitus, five of whom required insulin. Glucose intolerance was significantly higher in the steroid-treated group (p = 0.003). Comparison with a nonpregnant steroid-treated control group (47 patients, 15% of whom developed diabetes mellitus) showed no significant different (p = 0.23) between the two. All pregnant steroid-treated patients developing diabetes mellitus began steroid therapy after conception, whereas none of the patients receiving steroid therapy before conception developed glucose intolerance (p = 0.012). There does not appear to be an additive effect of steroid treatment and pregnancy on glucose intolerance; however, all patients receiving steroids should undergo periodic glucose screening.

Adult↗