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Biomedical subjects

A Drugan

Publications and source records attributed to A Drugan.

At least 37 records · Page 2Linked to original sources
PubMed1994

Risk of anomalies as a function of level of elevated maternal serum alpha-fetoprotein.

OBJECTIVE: Most neural tube defects risks are not actual but mathematical extrapolations. We sought to evaluate this risk and to compare actual performance. STUDY DESIGN: This was a retrospective study of a referral population with elevated maternal serum alpha-fetoprotein results between 1987 and 1992. Ultrasonography results, delivery records, and autopsy results were compared with entry levels of maternal serum alpha-fetoprotein, and the percentage of fetal anomalies detected in this study was evaluated. RESULTS: A total of 773 patients with elevated maternal serum alpha-fetoprotein levels were evaluated. There was a progressive increase in the incidence of anomalies as a direct function of the level of the maternal serum AFP, varying from 3.4% at a level of 2.5 to 40.3% at a level > 7.0. CONCLUSION: Data from this study support the correlation of maternal serum AFP levels with the risk of neural tube defect and ventral wall defects.

Congenital Abnormalities↗
PubMed1993

The natural history of multiple pregnancies after assisted reproduction: is spontaneous fetal demise a clinically significant phenomenon?

OBJECTIVE: To determine the rate of spontaneous fetal demise after heartbeats are demonstrated in multiple pregnancies conceived after IVF-ET. DESIGN: Retrospective case series. SETTING: University-based IVF-ET program. PATIENTS: Eighty-one patients in whom initial transvaginal ultrasound (US) study, performed at 5 to 6 weeks of gestation, identified more than one gestational sac. Total number of sacs was 191. INTERVENTION: Patients were followed by serial US examinations. MAIN OUTCOME MEASURE: Outcome of pregnancies. RESULTS: Twenty-four empty gestational sacs were identified in 21 patients, of whom 15 delivered, 2 miscarried, and 4 are currently ongoing beyond first trimester. Of the 167 initially viable embryos, 9 (5%) underwent spontaneous fetal demise. In 5 of these 9 pregnancies, initial US identified significant interfetal size variation. CONCLUSIONS: The rate of spontaneous fetal demise for a specific embryo in multiple gestation, after fetal heartbeats have been identified in early pregnancy, is 5%. This rate is similar to that seen in spontaneous conceptions. The chance of future fetal demise increases if first trimester interfetal size variation is significant.

Abortion, Spontaneous↗
PubMed1993

Neurofibromatosis and pregnancy. An update.

Neurofibromatosis is one of the most frequent genetic diseases in humans. Pregnancy in neurofibromatosis patients is, however, less common. Most current information on pregnancy and neurofibromatosis is derived from case reports, which may not reflect the true situation. In the past 15 years only two series of pregnant neurofibromatosis patients were reported in the English-language literature. We present our experience with 34 pregnancies in nine neurofibromatosis patients who delivered at our medical center. While fertility does not seem to be impaired in neurofibromatosis, these patients experience a higher-than-expected rate of first-trimester spontaneous abortions (20.7%), stillbirths (8.7%) and intrauterine growth retardation (13.0%). A high rate of cesarean section (26%) was also observed in our series. We conclude that pregnant neurofibromatosis patients constitute a high-risk group, in danger of developing life-threatening complications. However, with proper antenatal care, most pregnant neurofibromatosis patients can deliver safety if the pregnancy continues beyond the first trimester.

Adult↗
PubMed1993

Early ultrasound diagnosis of fetal congenital heart defects in high-risk and low-risk pregnancies.

OBJECTIVE: To evaluate the yield of early second-trimester transvaginal ultrasonography in the detection of congenital heart defects among patients with low or high risk for fetal anomalies. METHODS: During 5 years, we performed 12,793 transvaginal ultrasound examinations at 12-16 weeks' gestation, targeted for detection of fetal congenital anomalies. Three thousand four hundred fifty-three (27%) of these patients were considered to be at high risk for fetal congenital heart defects (because of family or medical history or teratogen exposure). The other 9340 patients were considered to be at low risk for fetal anomalies. The four-chamber view and the outflow tracts were evaluated systematically in all patients. RESULTS: Congenital heart malformations were observed in 47 cases, most of which (29 of 47) were diagnosed in the low-risk group. Additional extracardiac malformations were observed in 29 (62%) of the affected fetuses. Ten of 28 affected pregnancies that were karyotyped (36%) had abnormal chromosomes. Use of the four-chamber view alone would have failed to detect 11 (23%) of the abnormal fetuses. CONCLUSIONS: Transvaginal ultrasonography in the early second trimester is a useful tool for the detection of fetal cardiac structural defects, provided that both the four-chamber view and the outflow tracts are evaluated. When such an anomaly is suspected, additional fetal malformations should be sought and fetal karyotype should be determined.

Chromosome Aberrations↗
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

Transvaginal embryo aspiration--a safe method for selective reduction in multiple pregnancies.

OBJECTIVE: To evaluate pregnancy outcome after transvaginal selective embryo aspiration and to compare the results with those reported previously with other techniques for selective abortion. DESIGN: Retrospective case series. SETTING: University-based in vitro fertilization (IVF) program. PATIENTS: Nineteen women with multiple pregnancy who conceived after ovulation induction or IVF/gamete intrafallopian transfer. INTERVENTION: Transvaginal ultrasound-guided aspiration of the embryo(s) was performed at 7 to 8 weeks of gestation. MAIN OUTCOME MEASURES: Early and late complications related to the procedure, outcome of pregnancy, and birth weight. RESULTS: In 18 cases, the initial number of embryos (3 to 7) was reduced to two. In 1 case, the number of embryos was reduced from 4 to 3. None of the remaining fetuses vanished after the procedure. One patient delivered at 25 weeks and all other patients delivered healthy, viable infants (a pregnancy loss rate of 5.3%). CONCLUSIONS: Transvaginal embryo aspiration in early gestation appears to be a simple and relatively safe procedure for selective termination in patients with high-order multiple pregnancy. The cumulative loss rate of selective termination procedures previously reported by others is three times higher than the loss encountered in our series. This earlier procedure may be more acceptable to patients from emotional and religious points of view.

Abortion, Induced↗
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

Prenatal biochemical screening.

Most fetal abnormalities occur in low-risk pregnancies. Screening techniques have been developed to help determine who in the low-risk group may actually be at high risk. Biochemical screening for chromosomal abnormalities and neutral tube defects have significantly increased their detection, but there is still considerable room for improvement.

Amniocentesis↗
PubMed1991

Postmortem chorionic villus sampling: correlation of cytogenetic and ultrasound findings.

We performed chorionic villus samplings (CVS) in 795 cases in the first trimester during a 13-month period. Of these 35 were found to have a blighted ovum or missed abortion prior to the procedure. Nineteen women consented to have CVS. Ultrasonographic and cytogenetic findings in these 19 pregnancies were correlated. Expected gestational age was determined by last menstrual period. Observed gestational age was determined by crown rump length (CRL) (12 pregnancies) or gestational sac (GS) (7 pregnancies without fetal pole). The differences in days between the estimated and observed gestational ages was determined for each pregnancy. In all 19 CVS samples cytogenetic diagnosis documented aneuploidy. Ten cases had chromosome abnormalities virtually always lethal in the embryonic period (group I). Nine pregnancies had defects with moderate potential for fetal viability (group II). Gestations with low viability potential (group I) had estimated minus observed gestational age discrepancies (23.4 +/- 8.3 days) significantly greater than gestations with moderate viability potential (group II) (8.9 +/- 4.3 days) (P less than .001). The absence of a fetal pole was more common in group I. CVS in pregnancies with missed abortion or blighted ovum is feasible and has a high likelihood of documenting aneuploidy. Furthermore, the more severe the anomaly the more likely there will be very early fetal demise or intrauterine growth retardation.

Abortion, Missed↗
PubMed1991

Attitudes on the ethics of abortion, sex selection, and selective pregnancy termination among health care professionals, ethicists, and clergy likely to encounter such situations.

The ethical attitudes of health care providers toward abortion, sex selection, and selective termination of normal and anomalous fetuses in singleton or multiple pregnancies were evaluated by questionnaires distributed to members of the American Society of Human Genetics, the International Fetal Medicine and Surgery Society, the Society of Perinatal Obstetricians, ethicists, and clergy. Demographic characteristics of respondents exhibited a preponderance of men (76%), age greater than 40 (68%), and of United States residents (82%). Seventy-nine percent of respondents were in the medical profession. Approximately half of the respondents were Protestant, the rest being evenly distributed among Catholic, Jewish, and other religions. Acceptance of abortion for social indication varied by religion and gestational age but not by religious conviction, age, country, or gender of respondent. First-trimester abortion of a normal singleton pregnancy was considered more acceptable than selective termination of normal fetuses in multifetal gestations. Sex selection was considered unethical by most respondents. Selective termination was deemed ethically appropriate in quadruplets or multifetal gestations of more than five fetuses and in multiple pregnancies bearing one anomalous fetus. In the latter situation, acceptance increased with the severity of fetal anomalies and decreased from the first to the third trimester. The medical specialty of respondents was the only independent factor strongly associated with acceptance of selective termination by trimester, indication, and number of fetuses. Acceptance of selective termination among health care professionals appears to reflect not only perceptions of procedure-related risks and benefits in the index pregnancy but also individual training and religious beliefs.

Abortion, Induced↗
PubMed1991

Alpha-fetoprotein.

The past year has seen major challenges to existing maternal serum alpha-fetoprotein testing protocols for both neural tube defects and chromosomal anomalies. These challenges are reviewed along with the physiology of alpha-fetoprotein; the use of amniocentesis, ultrasonography, and additional serum markers in women with elevated alpha-fetoprotein levels; and epidemiologic implications of maternal serum alpha-fetoprotein screening.

Congenital Abnormalities↗
PubMed1991

Transabdominal chorionic villus sampling for rapid karyotyping in advanced gestation.

Late pregnancy fetal karyotyping is not employed often because a clinical decision about labor and delivery may be required before the results would be available. However, percutaneous umbilical blood sampling (PUBS) has been used recently to obtain fast karyotypes. We have extended our chorionic villus sampling (CVS) procedure to the second and third trimesters and compared the results obtained with late CVS and PUBS. CVS karyotypes were obtained faster and may be technically easier to perform.

Chorionic Villi Sampling↗
PubMed1991

Effect of estrogen on eustachian tube performance.

Changing levels of sex hormones have been previously associated with clinical symptoms due to alterations of the respiratory mucosa. Aural manifestations, however, have not yet been studied in this regard. Eustachian tube swallow test and blood levels of estrogen were evaluated daily in 25 women undergoing induction of ovulation. Most women showed a near stable eustachian tube performance over a wide range of estrogen levels, particularly in the physiologic range. However, there is a moderate decrease in eustachian tube function with increasing estrogen levels in some women, manifested mainly at levels beyond that of the normal menstrual cycle.

Acoustic Impedance Tests↗
PubMed1990

Midtrimester diagnosis and anomalies in the dup(22q) syndrome: correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios.

We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter----q13:: q12----qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

Adult↗
PubMed1990

Roberts syndrome or "X-linked amelia"?

We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed.

Abnormalities, Multiple↗
PubMed1990

Determinants of parental decisions to abort for chromosome abnormalities.

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the 'severe' or the 'questionable' group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p less than 0.0001). The association of ultrasound anomalies and termination was highly significant (p less than 0.001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.

Abortion, Therapeutic↗
PubMed1990

Postmortem chorionic villus sampling is a better method for cytogenetic evaluation of early fetal loss than culture of abortus material.

In utero chorionic villus sampling at the time of diagnosis of intrauterine fetal death is compared with more traditional use of cultured fetal skin, products of conception, or amniocentesis. A total of 102 specimens from early fetal losses were evaluated for success in karyotyping and chromosomal results. We found postmortem chorionic villus sampling is technically possible, offers the highest likelihood of getting a cytogenetic result, and is a rapid, reliable, and safe technique. The extraembryonic component of intrauterine fetal deaths appears to remain viable and continues to grow long after the embryo has died. Samples obtained at the time of diagnosis of fetal death offer the greatest changes of successfully obtaining a karyotype. The incidence of chromosome abnormalities associated with fetal loss, particularly trisomies, is higher than previous data suggested.

Adult↗