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Biomedical subjects

F D Frigoletto

Publications and source records attributed to F D Frigoletto.

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

Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis?

OBJECTIVE: To determine the clinical significance of hyperechoic bowel seen sonographically in second-trimester fetuses. METHODS: Fifty fetuses (0.6%) with echogenic bowel were identified sonographically from a population of 8680 consecutive second-trimester fetuses over 21 months. The fetal bowel was considered hyperechoic if its echogenicity was similar to that of surrounding bone. Follow-up was obtained through medical record review. RESULTS: Twenty-nine of 50 fetuses (58%) were normal; eight (16%) were aneuploid, including six Down syndrome, one trisomy 13, and one Turner syndrome. All eight fetuses with aneuploidy had sonographic anomalies in addition to the echogenic bowel. Eight of 50 fetuses (16%) were growth-retarded, and five others (10%) had normal karyotypes but are still undelivered. Among the eight growth-retarded fetuses, there were five intrauterine or neonatal deaths, one elective abortion, and two survivors. In addition, the six fetuses with Down syndrome and echogenic bowel represented 12.5% of all second-trimester Down syndrome fetuses karyotyped in our laboratory during the study period. Combining results from the present study (six Down syndrome fetuses) with three studies from the literature (21 additional Down syndrome fetuses), a total of 27 fetuses with echogenic bowel and Down syndrome were identified, 11 (40.7%) of whom had no other sonographic findings. We calculate that if 1,000,000 second-trimester fetuses were scanned, 5105 would have hyperechoic bowel as the only finding, of whom 71 would have Down syndrome and 5034 would not. The risk of Down syndrome in fetuses with isolated hyperechoic bowel is, therefore, 71 in 5105 or 1.4%. CONCLUSION: The finding of isolated hyperechoic bowel in the second trimester should prompt genetic counseling and consideration of karyotypic analysis.

Amniocentesis↗
PubMed1993

Biometric measurements in fetuses of different race and gender.

Sonographic fetal biometric measurements on 6082 low-risk patients were compared in the second and third trimesters of pregnancy with respect to fetal race and gender. Ultrasonic measurements were obtained from fetuses of women participating in the Routine Antenatal Diagnostic Imaging with Ultrasound Study (RADIUS), who underwent both an early sonographic evaluation between 15 and 22 weeks' gestation and a later scan between 31 and 35 weeks' gestation. In the 16-21-week scans, male fetuses had significantly larger biparietal diameter measurements compared to female fetuses (estimated difference 0.852 mm, 95% CI 0.737-0.967). There was only minimal difference in biparietal diameter between Black and White fetuses. Femur length was similar in both female and male fetuses, but longer in Black compared to White fetuses (estimated difference 0.808 mm, 95% CI 0.539-1.078). During the 31-35-week scans, male fetuses continued to have larger biparietal diameter measurements compared to female fetuses (estimated difference 1.22 mm, 95% CI 1.04-1.40), and femur lengths were persistently longer in Black compared to White fetuses (estimated difference 0.563 mm, 95% CI 0.234-0.893). Further investigation is necessary to evaluate the effect of these slight differences in morphometric fetal measurements between races and genders, so that we can determine how best to use them for optimizing prenatal care.

Journal Article↗
PubMed1993

Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group.

BACKGROUND: Many clinicians advocate routine ultrasound screening during pregnancy to detect congenital anomalies, multiple-gestation pregnancies, fetal growth disorders, placental abnormalities, and errors in the estimation of gestational age. However, it is not known whether the detection of these conditions through screening leads to interventions that improve perinatal outcome. METHODS: We conducted a randomized trial involving 15,151 pregnant women at low risk for perinatal problems to determine whether ultrasound screening decreased the frequency of adverse perinatal outcomes. The women randomly assigned to the ultrasound-screening group underwent one sonographic examination at 15 to 22 weeks of gestation and another at 31 to 35 weeks. The women in the control group underwent ultrasonography only for medical indications, as identified by their physicians. Adverse perinatal outcome was defined as fetal death, neonatal death, or neonatal morbidity such as intraventricular hemorrhage. RESULTS: The mean numbers of sonograms obtained per woman in the ultrasound-screening and control groups were 2.2 and 0.6, respectively. The rate of adverse perinatal outcome was 5.0 percent among the infants of the women in the ultrasound-screening group and 4.9 percent among the infants of the women in the control group (relative risk, 1.0; 95 percent confidence interval, 0.9 to 1.2; P = 0.85). The rates of preterm delivery and the distribution of birth weights were nearly identical in the two groups. The ultrasonographic detection of congenital anomalies had no effect on perinatal outcome. There were no significant differences between the groups in perinatal outcome in the subgroups of women with post-date pregnancies, multiple-gestation pregnancies, or infants who were small for gestational age. CONCLUSIONS: Screening ultrasonography did not improve perinatal outcome as compared with the selective use of ultrasonography on the basis of clinician judgment.

Adolescent↗
PubMed1993

A randomized trial of prenatal ultrasonographic screening: impact on maternal management and outcome. RADIUS (Routine Antenatal Diagnostic Imaging with Ultrasound) Study Group.

OBJECTIVES: This randomized clinical trial of 15,530 women was designed to test the hypothesis that screening ultrasonography in low-risk pregnancies would improve perinatal outcome. A secondary hypothesis addressed in this article was that screening ultrasonography would have a favorable impact on maternal management or outcome. STUDY DESIGN: Pregnant women without a specific indication for ultrasonographic examination in early pregnancy were randomly assigned to have either two screening sonograms or conventional obstetric care. Pregnancy interventions and maternal outcomes were compared in the two groups. RESULTS: No significant differences were found in maternal outcomes. Use of ultrasonography was markedly higher in the screened group. The rates of induced abortion, amniocentesis, tests of fetal well-being, external version, induction, and cesarean section and the distribution of total hospital days were similar in the two groups. Use of tocolytics and the rate of postdate pregnancy were both slightly lower in the screened group. CONCLUSION: Screening ultrasonography resulted in no clinically significant benefit.

Female↗
PubMed1993

Emergency peripartum hysterectomy.

OBJECTIVES: By means of hospital-based data over 9 years we sought to evaluate the clinical indications and incidence of emergency peripartum hysterectomy by demographic characteristics and reproductive history. STUDY DESIGN: From the obstetric records of all deliveries at Brigham and Women's Hospital between Oct. 1, 1983, and July 31, 1991, we identified all women undergoing emergency peripartum hysterectomy, calculated crude and adjusted incidence rates, conducted statistical tests of linear trends and heterogeneity, and observed the clinical indications preceding the onset of this procedure. RESULTS: There were 117 cases of peripartum gravid hysterectomy identified during this period, for an overall annual incidence of 1.55 per 1000 deliveries. The rate increased with increasing parity and was significantly influenced by placenta previa and a history of cesarean section. The incidence by parity increased from one in 143 deliveries in nulliparous women with placenta previa to one in four deliveries in multiparous women with four or more deliveries with placenta previa. Likewise, the incidence increased from one in 143 deliveries in women with one prior live birth and a prior cesarean section to one in 14 deliveries in multiparous women with four or more deliveries with a history of a prior cesarean section. Both these trends were highly significant (p < 0.001). Abnormal adherent placentation was the most common cause preceding gravid hysterectomy (64%, p < 0.001), with uterine atony accounting for 21%. Although no maternal deaths occurred, maternal morbidity remained high, including postoperative infection in 58 (50%), intraoperative urologic injury in 10 patients (9%), and need for transfusion in 102 patients (87%). CONCLUSIONS: The data identify abnormal adherent placentation as the primary cause for gravid hysterectomy. The data also illustrate how the incidence of emergency peripartum hysterectomy increases significantly with increasing parity, especially when influenced by a current placenta previa or a prior cesarean section. Maternal morbidity remained high although no maternal deaths occurred.

Adult↗
PubMed1992

The natural history of oligohydramnios/polyhydramnios sequence in monochorionic diamniotic twins.

Twelve patients with monochorionic diamniotic twin pregnancies complicated by oligohydramnios/polyhydramnios sequence were evaluated to determine the natural history of this syndrome. Nine patients elected to continue their pregnancies and three underwent elective termination. Six of the nine continuing pregnancies delivered viable fetuses. Four of the nine continuing pregnancies had evidence of a 'stuck' twin at less than 20 weeks' gestation, and only one yielded live newborns (25%). Three patients diagnosed with a mild case of oligohydramnios/polyhydramnios sequence underwent worsening of the syndrome with a 'stuck' twin seen only after 26 weeks: all neonates survived. Five pregnancies initially diagnosed as having a 'stuck' twin showed improvement in amniotic fluid volume, with one actually reversing, so that the previously 'stuck' twin developed polyhydramnios and the co-twin became 'stuck'. In summary, among the nine non-aborted pregnancies managed conservatively, 12 of 18 fetuses (67%) survived. When the diagnosis of 'stuck' twin was made at <or= 20 weeks, only two of eight (25%) lived. These observations suggest that the oligohydramnios/polyhydramnios sequence is a dynamic process with wide and often unpredictable fluctuations in amniotic fluid volume.

Journal Article↗
PubMed1992

The natural history of isolated fetal hydrothorax.

We reviewed the prenatal course and outcome of 11 fetuses with isolated unilateral or bilateral hydro thoraces identified between 14 and 34 weeks' gestation, in the absence of invasive fetal intervention. Four of these fetuses died, three in utero and one in the newborn period. Six of seven survivors had resolution of hydrothorax before birth. Eight of the 11 fetuses had unilateral and three bilateral hydrothoraces. Six of the eight fetuses with unilateral hydrothorax survived, whereas one of the three with bilateral hydrothoraces lived. Six of the 11 pregnancies were complicated by polyhydramnios; four of these six fetuses died. One fetus was found to have trisomy 21. It is difficult to draw firm conclusions from the small number of patients in this report because of the wide range of outcomes found for the sonographic variables described. This series shows, however, a tendency to complete resolution of primary unilateral fetal hydrothorax, with good outcome, particularly in second-trimester fetuses without polyhydramnios.

Journal Article↗
PubMed1992

Fetal echocardiography: accuracy and limitations in a population at high and low risk for heart defects.

OBJECTIVE: Our objective was to assess the accuracy of prenatal echocardiography in detecting congenital heart defects in patients at high and low risk for structural cardiac anomalies. STUDY DESIGN: Sixty-nine consecutive fetuses with congenital heart defects who had had prenatal ultrasonography at greater than or equal to 18 weeks' gestation were evaluated to determine the accuracy of prenatal ultrasonography in identifying structural cardiac defects. Thirty-nine patients were at high risk and 30 patients were at low risk for cardiac anomalies. All fetuses were scanned with standard four-chamber and outflow tract views. Data concerning extracardiac anomalies and karyotypic abnormalities were tabulated. The accuracy of the four-chamber view alone in identifying congenital heart defects was evaluated. RESULTS: Fifty-seven of 69 fetuses (83%) were prenatally identified ultrasonographically as having a heart defect. There was no difference in the sensitivity of detecting cardiac anomalies between high-risk and low-risk groups. When the four-chamber view was used, only 63% of fetuses were recognized as having an abnormal heart. Extracardiac anomalies were noted in 36% and karyotypic abnormalities in 17% of patients. CONCLUSION: The four-chamber and outflow tract views done routinely in an ultrasonography laboratory seeing a mixed population of patients was successful in detecting 83% of fetuses with structural cardiac malformations. Because 43% of the fetuses with heart defects were referred for low-risk indications, systematic ultrasonographic examination of the fetal heart should not be reserved only for those at high risk.

Chromosome Aberrations↗
PubMed1992

Thickened nuchal fold in fetuses not at risk for aneuploidy.

Many studies have shown that a thickened nuchal fold in a second-trimester fetus is a sonographic sign suggestive of a high risk for Down syndrome. These series have included fetuses already at risk for aneuploidy because of advanced maternal age or abnormal maternal serum alpha-fetoprotein (AFP) levels. The authors describe the sonographic and karyotypic findings in 42 women younger than age 35 years whose fetuses were noted to have a thickened nuchal fold. Forty fetuses were not at risk for Down syndrome. Fourteen of the 42 fetuses (33%) had abnormal karyotypes; 11 had Down syndrome and one each had XXX, XO, and XYY. If the five cases with low maternal serum AFP levels are excluded, nine of the 37 fetuses (24%) with thickened nuchal folds had abnormal karyotypes. Amniocentesis would have been performed in one of those nine fetuses because of hydrocephalus. Thus, eight of 36 fetuses (22%) with thickened nuchal folds and no other indications for amniocentesis had abnormal karyotypes. When a thickened nuchal fold is present, the yield of abnormal karyotype is high (22%), making it possible to identify patients who would benefit from cytogenetic evaluation but who would not otherwise be candidates.

Adult↗
PubMed1992

Isolated choroid plexus cysts in the second-trimester fetus: is amniocentesis really indicated?

Choroid plexus (CP) cysts have been associated with trisomy 18, although most fetuses with CP cysts are normal. Since many fetuses with trisomy 18 have other sonographic abnormalities, the necessity of obtaining a karyotype for all fetuses with isolated CP cysts remains controversial. The authors prospectively studied 234 second-trimester fetuses with sonographically discovered CP cysts. Two hundred twenty of them had no other sonographic findings. None of these 220 normal fetuses had evidence of aneuploidy at amniocentesis or an anomaly at birth. Fourteen fetuses had major anomalies detected in utero: 11 had trisomy 18, one had triploidy, and two had normal karyotypes but were structurally abnormal. While size and bilaterality of the CP cysts were not helpful in predicting aneuploidy, the meticulous anatomic survey of fetuses with CP cysts allowed successful identification of all aneuploid fetuses. These data show that the yield of abnormal karyotypes in fetuses with isolated CP cysts is low and may not justify the risk of amniocentesis.

Amniocentesis↗
PubMed1992

The fetal thyroid: normal and abnormal sonographic measurements.

The thyroid of 31 fetuses at low risk for perinatal thyroid disease were evaluated sonographically. The transverse width and circumference of the fetal thyroid was measured prospectively to provide normative values for each gestational age. In addition, the thyroid of 23 fetuses at risk for thyroid disease were examined sonographically and compared to the control group. At birth, 18 of the neonates had no evidence of thyroid dysfunction, whereas 5 newborns had goiters and abnormal thyroid function. The fetal thyroid measurements for these 5 neonates were above the upper limit of the 95% confidence interval compared to the control group. The other 18 fetuses in the group at risk for thyroid disease but without evidence of thyroid dysfunction at birth had fetal thyroid measurement within the normal range.

Female↗
PubMed1992

The implications of sonographically identified cervical changes in patients not necessarily at risk for preterm birth.

Sonography of the cervix and lower uterine segment has been used in evaluating pregnancies at risk for incompetent cervix and premature labor. Shortened cervix (less than 3 cm) and open internal os with funneling of the membranes into the endocervical canal are sonographic features associated with premature delivery. We identified these sonographic signs in a group of 31 asymptomatic women who were undergoing prenatal sonography for multiple indications, not necessarily related to premature labor or cervical incompetence. Nineteen patients (61%) in this heterogeneous population had pregnancies complicated by preterm labor, clinical evidence of incompetent cervix, or preterm birth. We conclude that the presence of abnormal sonographic features of the cervix seen incidentally during prenatal sonography on asymptomatic patients warrants close clinical attention.

Female↗
PubMed1992

Sonographic scoring index for prenatal detection of chromosomal abnormalities.

Current indications for cytogenetic evaluation leave the majority of Down syndrome fetuses undetected. Using advanced maternal age and low maternal serum alpha-fetoprotein (AFP) levels as criteria, only 40% of fetuses with Down syndrome (trisomy 21) are identified (positive predictive value, 0.4% to 1%). We evaluate the sonographically detectable physical features of second trimester fetuses to determine whether these features are more sensitive and specific than maternal age for detecting fetuses with abnormal karyotypes. From March 1, 1990, to September 1, 1991, more than 5,000 fetuses between 14 and 20 weeks of development were referred for genetic amniocentesis because of advanced maternal age or abnormal AFP levels. Forty-three of these 5,000 fetuses were later found to have autosomal trisomies by karyotype (32 with trisomy 21, nine with trisomy 18, and two with trisomy 13). A sample of 588 consecutive normal fetuses from the total of more than 5,000 amniocenteses performed during this period of time was used as our control group for statistical analysis. The sonographic features of these 588 normal second trimester fetuses and the 43 trisomic fetuses recorded prospectively prior to knowledge of the karyotype were evaluated statistically. The femur and humerus lengths, nuchal fold, renal pelvic dimension, and major structural defects were compared in the normal and trisomic fetuses. On the basis of our results, a weighted sonographic score was developed to optimize the detection of fetuses at risk for aneuploidy. Using our previously published formulas and criteria for a short femur and humerus, 17/32 (53%) fetuses with Down syndrome and 23/588 (3.9%) of the normal fetuses were identified. Twenty two of 32 Down syndrome fetuses (69%) and 2/588 (0.34%) of normals had a nuchal fold > or = 6 mm, and 11 of 32 Down syndrome fetuses and all those with trisomies 18 and 13 had a major anomaly detected sonographically. The following scoring system was developed for the detection of aneuploidy: nuchal fold = 2, major structural defect = 2, and short femur, short humerus, and pyelectasis = 1 each. Selecting fetuses with a score of > or = 2 would identify 26/32 (81%) Down syndrome fetuses, and 9/9 (100%) and 2/2 (100%) fetuses with trisomies 18 and 13 respectively, but only 26/588 (4.4%) of the normal fetuses. Using the sonographic score of 2 results in a positive predictive value for a 1/250 risk group of 6.87% for identifying Down syndrome fetuses and 7.25% for all three trisomies.(ABSTRACT TRUNCATED AT 400 WORDS)

Amniocentesis↗
PubMed1992

Placenta accreta/percreta/increta: a cause of elevated maternal serum alpha-fetoprotein.

OBJECTIVE: To investigate the relationship between elevated maternal serum alpha-fetoprotein (MSAFP) and abnormal placental adherence (placenta accreta/percreta/increta). METHODS: We reviewed the MSAFP levels of 11 women who had cesarean hysterectomies because of placenta accreta/percreta/increta. The control group consisted of 14 women who delivered by cesarean because of placenta previa but who had no abnormal placental adherence. RESULTS: Five of the 11 women with placenta accreta/percreta/increta had elevated MSAFP, whereas all 14 controls had normal levels. CONCLUSION: These results indicate a significant association between elevated MSAFP and placenta accreta/percreta/increta (P = .017). Patients with an unexplained elevation of MSAFP as well as placenta previa may be at increased risk for abnormal placental adherence.

Female↗
PubMed1991

Mild fetal lateral cerebral ventriculomegaly: clinical course and outcome.

The neonatal, pathologic outcome and karyotypic abnormalities are reported for 44 fetuses with mild ventriculomegaly diagnosed antenatally. Seventeen of these 44 fetuses (39%) had other ultrasonographic defects, and five (12%) had abnormal karyotypes. Five pregnancies were electively aborted and three other fetuses died in the neonatal period. Twenty-six (72%) of the remaining 36 live-born neonates are developmentally and clinically normal at 3 to 18 months of age. Twenty-one of these 26 had isolated mild ventriculomegaly as the only ultrasonographic finding. The other 10 live-born infants are developmentally impaired, and five of these 10 had mild ventriculomegaly as the only prenatal ultrasonographic abnormality. In conclusion, these data show that fetuses with mild ventriculomegaly have a lower incidence of associated anomalies and a better outcome than fetuses with more severe ventricular dilatation, as reported in the literature. The majority of fetuses with mild ventriculomegaly as an isolated finding and a normal karyotype are developing normally.

Abnormalities, Multiple↗
PubMed1991

Humeral shortening in second-trimester fetuses with Down syndrome.

Individuals with Down syndrome have abnormally short long bones. Sonography has previously revealed slightly shortened femurs and thickened nuchal folds in affected second-trimester fetuses. Humeral and femoral lengths and nuchal folds were evaluated in 400 normal second-trimester controls and in 24 consecutive Down syndrome fetuses (14-20 weeks) undergoing amniocentesis for advanced maternal age or low maternal serum alpha-fetoprotein (MSAFP). Using the 400 normal control fetuses undergoing amniocentesis, the relationship between humeral length and biparietal diameter (BPD) was: Expected humeral length = -7.9404 + 0.8492 x BPD. A ratio of measured-to-expected humeral length of less than 0.90 identified 12 of 24 fetuses (50%) with Down syndrome and 25 of 400 normals (6.25%). Twelve of the 24 Down syndrome fetuses had a nuchal fold measuring 6 mm or larger. Combining nuchal fold findings with these humeral length criteria identified 18 of 24 affected fetuses (75%) without appreciable change in specificity, yielding a positive predictive value of 4.6% for women with a risk of one in 250 (age 35) of having a Down syndrome fetus. For women with risks of one in 500 and one in 1000 of having an affected fetus based on maternal age, a shortened humerus or thickened nuchal fold yielded positive predictive values of 2.3 and 1.2%, respectively.

Adult↗
PubMed1991

Ultrasound detection of fetal aneuploidy in patients with elevated maternal serum alpha-fetoprotein.

Increasing confidence in the ability of high-resolution ultrasound to detect neural tube and ventral wall defects has enabled us to offer a revised risk estimate to the patient with an elevated maternal serum alpha-fetoprotein (MSAFP) level, such that amniocentesis may not be necessary. Recent authors have suggested that a reduced emphasis on follow-up amniocentesis fails to consider an increased risk for chromosomal anomalies in pregnancies with an elevated MSAFP, and that amniocentesis should still be performed. We reviewed our ultrasound findings from patients who underwent amniocentesis for evaluation of an elevated MSAFP and who had a karyotype prepared from the amniotic fluid sample. Four abnormal karyotypes were detected among 313 amniocenteses, and three of these were correctly predicted based on an abnormal ultrasound. The risk of an unexpected fetal aneuploidy after a normal consultative ultrasound in our series was one in 310. This is comparable to the risk of detecting abnormal chromosomes in the fetus of a 32-year-old woman, an age at which amniocentesis is not routinely offered.

Amniocentesis↗