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Biomedical subjects

F D Frigoletto

Publications and source records attributed to F D Frigoletto.

At least 19 recordsLinked to original sources
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↗
PubMed1991

Spontaneous preterm birth: a case-control study.

Information on demographic characteristics, life-style, and reproductive, prenatal, and medical history was obtained from the prenatal records of 140 women with a preterm delivery (cases) and 280 women with a term delivery (controls) matched by age. Compared with controls, a greater proportion of cases were nonwhite, never married, and educated less than 12 years. When logistic regression was used to control for confounding variables, a number of risk factors were found to be associated with an increased risk for preterm delivery: a history of a prior preterm delivery (relative risk, 3.5; confidence interval, 1.6 to 7.8), smoking during the pregnancy (p value test of trends, 0.005), and a prepregnancy weight less than 61.5 kg (relative risk, 2.0; 95% confidence interval, 1.2 to 3.2). Seven (5%) cases and none of the controls indicated a history of maternal diethylstilbestrol exposure (p less than 0.001). A history of prior induced abortion was associated with a modest increase in risk for a spontaneous preterm delivery (relative risk, 1.6; confidence interval, 0.9 to 2.7), and this risk increased with increasing numbers of induced abortions (p value for chi 2 test of trend, 0.02).

Abortion, Induced↗
PubMed1990

Absence of need for amniocentesis in patients with elevated levels of maternal serum alpha-fetoprotein and normal ultrasonographic examinations.

BACKGROUND: Recent improvements in the accuracy of sonographic diagnosis of neural-tube and ventral-wall defects have raised a question about the wisdom of routinely offering amniocentesis to women who have elevated levels of maternal serum alpha-fetoprotein with a structurally normal fetus as determined by ultrasonography. METHODS: We reviewed the ultrasound findings in 51 consecutive fetuses with spina bifida, encephalocele, gastroschisis, or omphalocele that were delivered or aborted at a single hospital, to estimate the sensitivity of ultrasonography for these diagnoses. In all cases, the mothers had undergone prenatal sonography at one facility between 16 and 24 weeks after the last menstrual period. We used these data to calculate the probability of an affected fetus in a women with a given level of maternal serum alpha-fetoprotein and a normal sonogram. RESULTS: These four types of anomalies were correctly identified in all 51 cases, yielding a sensitivity of 100 percent (95 percent confidence interval, 94 to 100 percent). Using the lower limit of this confidence interval, we calculated that the probability of an affected fetus ranges from 0.01 to 0.15 percent for maternal serum alpha-fetoprotein levels ranging from 2.0 to 3.5 times the median, respectively. CONCLUSIONS: This level of risk is less than the reported risk of abortion due to amniocentesis and may lead some women with elevated levels of alpha-fetoprotein to decide not to proceed with amniocentesis.

Amniocentesis↗
PubMed1990

Are choroid plexus cysts an indication for second-trimester amniocentesis?

Previous series that described fetuses with choroid plexus cysts have been too small to determine whether there is an association with trisomy 18 sufficiently high to warrant amniocentesis. To address this issue, we studied the incidence of choroid plexus cysts and other ultrasonographic abnormalities in 26 consecutive fetuses (13.5 to 36 weeks' gestation) with trisomy 18. Twenty of these 26 fetuses had major sonographic anomalies suggestive of aneuploidy. Seventeen of these 26 fetuses were 15 to 20 weeks and 5 of 17 (30%) had choroid plexus cysts. Six of our total 26 affected fetuses had no sonographic anomalies and therefore, on the basis of our data, 30% of these (1.8 fetuses) with trisomy 18 would have choroid plexus cysts without other findings. The incidence of choroid plexus cysts in all second-trimester fetuses (including normal fetuses and those with trisomy 18) is reportedly 1%. Given the known incidence of trisomy 18 (3/10,000), we calculated a total presumptive sample of 86,667 patients to yield our 26 fetuses with trisomy 18. Our hypothetical sample has 86,641 (86,667 - 26) fetuses without trisomy 18,858 of which would have choroid plexus cysts. Thus there would be one fetus with trisomy 18 for every 477 normal fetuses with choroid plexus cysts with no other defect seen. If amniocentesis were done to seek trisomy 18 in all second-trimester fetuses with choroid plexus cysts, two normal fetuses would be lost for every one with trisomy 18 identified.

Adult↗
PubMed1990

Hypoplasia of the middle phalanx of the fifth digit. A feature of the second trimester fetus with Down's syndrome.

It has been established that 60% of infants with Down's syndrome have hypoplasia of the middle phalanx of the fifth digit. To determine whether this would be a useful prenatal sonographic sign for Down's syndrome, we measured the middle phalanx of the fifth and fourth digits in 1,032 fetuses between 15 and 20 weeks gestational age at the time of amniocentesis, prior to any knowledge of the karyotypes. A ratio of the middle phalanx of the fifth digit over the middle phalanx of the fourth digit was calculated, and the median ratio for the 1,024 normal fetuses was 0.85. There were eight fetuses who had trisomy 21 by karyotype and their median ratio was 0.59 (P = .04). Of the eight fetuses with Down's syndrome, seven had ratios below the normal population median. If an arbitrary cut-off point is used at a ratio of 0.70, 6/8 (75%) of those with Down's syndrome would be identified, as well as 18% of normal fetuses (positive predictive value = 3.2% in this group). Although we do not suggest that this ratio be used alone as a screening test for Down's syndrome, these findings confirm the presence of a small middle phalanx in fetuses with trisomy 21 as early as 15 to 16 weeks and may be a useful adjunct to the several already reported sonographic signs in the fetus at risk for Down's syndrome.

Down Syndrome↗
PubMed1990

Fetal pyelectasis: a possible association with Down syndrome.

Two hundred ten consecutive fetuses were identified as having renal pyelectasis among 7400 patients scanned during 1 year. Seven of these 210 fetuses had Down syndrome. We reviewed images of the kidneys of 44 fetuses with Down syndrome collected over 5 years and found that 25% of these affected fetuses had pyelectasis. The incidence of Down syndrome was 3.3% when fetal pyelectasis was present.

Amniocentesis↗