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Biomedical subjects

F D Frigoletto

Publications and source records attributed to F D Frigoletto.

At least 55 records · Page 3Linked to original sources

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↗

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↗

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↗

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↗

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↗

Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents.

The majority of fetuses with omphalocele have other congenital abnormalities and, in many cases, an abnormal karyotype. We retrospectively studied 22 consecutive fetuses with sonographically diagnosed omphalocele and available karyotype to determine whether the contents of the omphalocele could predict the karyotype. Of these 22 fetuses, 18 had normal and four had abnormal karyotypes. Sixteen of the karyotypically normal fetuses had liver herniated into the omphalocele and two had only bowel present in the defect. All four of the fetuses with abnormal chromosomes had only bowel in the defect.

Abnormalities, Multiple↗

Abnormal US appearance of the cerebellum (banana sign): indirect sign of spina bifida.

Certain fetal cranial abnormalities found on second-trimester sonograms can be signs of an open spina bifida. In particular, an abnormal configuration of the cerebellum, known as the banana sign, has been associated with neural tube defects. To further evaluate the usefulness of this sign, the authors compared images of the posterior fossa in 23 fetuses who had documented neural tube defects with those of 38 control fetuses who underwent sonography because of an elevated maternal serum alpha-fetoprotein level. Twenty-two of the 23 fetuses with neural tube defects had compression and anterior alignment of the cerebellar hemispheres (the banana sign), and follow-up confirmed the presence of an open neural tube defect. One fetus had a normal-appearing posterior fossa; however, the neural tube defect at birth was completely covered with skin. Four of the neural tube defects were difficult to see sonographically, and the abnormal configuration of the cerebellum, as well as the flattening of the frontal bone (lemon sign), was instrumental in suggesting the correct diagnosis. The 38 control fetuses had normal-appearing posterior fossae.

Cerebellum↗

Can sonographers reliably identify anatomic features associated with Down syndrome in fetuses?

To standardize femur measurement for the identification of fetuses at risk for Down syndrome, sonographers of varying professional experience and background measured the femurs of 20 Down syndrome fetuses and 709 normal control fetuses. A regression analysis performed to compare biparietal diameter to femur length on the 709 control fetuses yielded the following formula: expected femur length = -9.3105 + 0.9028.biparietal diameter. A ratio of measured-to-expected femur length of 0.91 or lower indicated Down syndrome with a sensitivity of 40%, a specificity of 95%, and a positive predictive value of 3.1%. Eight of the 20 fetuses with Down syndrome (40%) also had a thickened nuchal fold (6 mm or larger). If the nuchal fold findings had been considered with the femur length findings, two more of the fetuses with Down syndrome would have been identified, yielding a sensitivity of 45% and a positive predictive value of 4.3%. Because these measurements were made by eight sonographers rather than a single experienced sonologist, these results could be achieved in most ultrasound laboratories where measurements are done primarily by sonographers.

Down Syndrome↗

Sonographic evaluation of hydrops fetalis.

Sonographic criteria were developed to aid in determining the cause of hydrops fetalis in 26 consecutive cases diagnosed antenatally. This enabled us to predict whether the hydrops was due to anemia-related causes (isoimmunization, fetomaternal hemorrhage, alpha-thalassemia) or non-anemia-related causes. Fetuses without anemia as the cause of hydrops most often exhibited pleural effusions (87%) or marked edema (62.5%). A combination of pleural effusions and marked edema was evident in fetuses without anemia 56.3% of the time. Those with anemia as the cause of hydrops were significantly less likely to exhibit pleural effusions (20%), marked edema (10%), or pleural effusions and marked edema (10%). A thickened placenta occurred significantly more frequently (80 versus 37%) in anemia-associated hydrops. With the use of cordocentesis and intravascular in utero transfusion, the early recognition and treatment of hydrops fetalis due to anemia should lead to improved outcome in fetuses so affected.

Anemia↗

Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations.

Nine fetuses having trisomy 13 and 15 fetuses with trisomy 18 were diagnosed by cytogenetic studies and also underwent a sonogram between 15 and 40 weeks. All nine fetuses with trisomy 13 had been prospectively identified as having sonographic findings suggestive of trisomy 13. Twelve of the 15 fetuses with trisomy 18 had sonographic abnormalities compatible with trisomy 18. Findings included abnormalities of the face and head, extremities, and diaphragmatic hernia. This report examines criteria for the ultrasound diagnosis of trisomies 13 and 18 and describes the accuracy of prenatal sonography for these diagnoses.

Chromosome Aberrations↗

Sonographically estimated fetal weights: accuracy and limitation.

To determine the accuracy of our ultrasonographically predicted birth weights we studied 1301 women delivered of infants within a week of an obstetric ultrasonogram to compare the ultrasonographically predicted birth weights with the actual birth weights. The fetuses varied from 700 to 5800 gm and were consecutive singleton fetuses in vertex presentations delivered at a single institution. Overall 74% of the infants had birth weights within 10% of the ultrasonographic estimates and 42% had birth weights within 5% of the ultrasonographic estimates. The presence of oligohydramnios or polyhydramnios made no difference in the percent errors. The sensitivity for identifying a fetus with macrosomia (birth weight greater than 4000 gm) with an estimated weight of greater than or equal to 4000 gm was 65%. The specificity or percent of fetuses correctly identified ultrasonographically as not macrosomic was 90%. If fetuses predicted by ultrasonography to be greater than 3800 gm were included, the sensitivity for the prediction of macrosomia rises to 82% but the specificity would be 79%. There appears to be a fixed limitation to obtaining estimated fetal weights by ultrasonography, even in large series, because these data reaffirm the success and limitations of other methods used to estimate fetal weight previously reported in the literature.

Birth Weight↗

The cost of irregular antibody screening.

The cost of irregular antibody screening in the third trimester exceeds +600,000.00 per perinatal death averted. This cost appears prohibitive compared with the clinical impact of the disease and costs of other screening tests.

Antibodies↗

Management of isoimmunized pregnancy by use of intravascular techniques.

Twenty-two patients who had 23 pregnancies complicated by isoimmunization were managed by the use of intravascular methods on an outpatient basis. Nine patients underwent 30 percutaneous fetal blood sampling procedures to determine fetal blood type or hematocrit, without complication. Thirteen patients underwent 45 intrauterine fetal transfusions via the umbilical vessels and 16 intraperitoneal fetal transfusions. The overall survival rate in this series was 85.7%. Survival among fetuses that were hydropic at initial evaluation was 83.3%. The procedure-related perinatal mortality rate for intravascular intrauterine transfusions was 2.2%. Knowledge of fetal blood type and hematocrit allowed treatment individualized to the specific needs of each patient. In particular, the ability to transfuse blood directly into the vascular system of the hydropic fetus proved to be lifesaving in those patients.

Blood Grouping and Crossmatching↗

Prenatal ultrasonographic recognition of Goldenhar's syndrome.

Goldenhar's syndrome is a series of malformations involving the face, either unilaterally or bilaterally. Other organs, such as the lungs, kidneys, spine, and heart, can also be involved. We report the prenatal ultrasonographic findings with regard to a fetus with multiple anomalies where Goldenhar's syndrome was not diagnosed until after birth. The importance of finding patterns of malformations is stressed to optimize the postnatal care for infants with multiple congenital abnormalities.

Abnormalities, Multiple↗