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Biomedical subjects

Lawrence D Platt

Publications and source records attributed to Lawrence D Platt.

At least 19 recordsLinked to original sources

Improving cleft palate/cleft lip antenatal diagnosis by 3-dimensional sonography: the "flipped face" view.

OBJECTIVE: Three-dimensional sonography has enhanced the diagnosis of congenital anomalies in the early stages of pregnancy. Both cleft lip and palate remain a diagnostic challenge for the sonographer because of the variable size of the defects as well as their location. Recently, a technique described by Campbell et al (Ultrasound Obstet Gynecol 2003; 22:552-554, 2005; 25:12-18) demonstrated an improved method called the "reverse face" view, which appears to assist in the diagnosis of clefts involving the palate. METHODS: The fetal face was initially examined with the fetus in the supine position. Using 3-dimensional sonography, a static volume was acquired. Following acquisition of the volume, it was rotated 90 degrees so that the cut plane was directed in a plane from the chin to the nose. The volume cut plane was then scrolled from the chin to the nose to examine in sequential order the lower lip, mandible, and alveolar ridge; tongue; upper lip, maxilla, and alveolar ridge; and hard and soft palates. RESULTS: This approach identified the full length and width of the structures of the mouth and palates and allows the examiner to identify normal anatomy as well as clefts of the hard and soft palates. CONCLUSIONS: The fetal hard and soft palates of the mouth can be accessed using a new technique, which we call the "flipped face" maneuver, when an adequate volume of the face can be obtained.

Cleft Lip↗

Fetal Doppler Hypoxic index for the prediction of abnormal fetal heart rate at delivery in chronic fetal distress.

OBJECTIVE: To design a Doppler Hypoxic index (HI), which takes into account both the duration and the intensity of fetal flow redistribution (i.e. hypoxia) for predicting the occurrence of abnormal fetal heart rate (FHR) at delivery. METHOD: Sixty-six pregnancies with hypertension and/or growth retardation (IUGR) were investigated (age: 23+/-5 years; primigravidas: 30%, CS 59%; hospitalisation: 10+/-8 days, IUGR (<10 c) 82%, intensive care 23%, fetal death 1). Umbilical (URI) and cerebral (CRI) Doppler resistance indices, and the C/U ratio (CRI/URI) were measured every 2 days from admission to delivery. HI was calculated by summing the daily %C/U reduction (in % from normal cut-off limit 1.1) over the period of observation (or mean C/U reduction in % from 1.1 x number of days of observation). Doppler C/U and HI were compared with fetal heart rate (FHR) traces, and perinatal data. RESULTS: HI > 160% was associated with abnormal FHR in 80% of the cases (PPV = 87%, NPV = 88%). HI > 160% predicted the occurrence of abnormal FHR 8+/-6 days before they happened. CONCLUSION: A combination of intensity and duration of the fetal flow redistribution (i.e. hypoxia) evaluated by Doppler is correlated with the occurrence of abnormal fetal heart rate.

Adult↗

An isolated intracardiac echogenic focus as a marker for aneuploidy.

OBJECTIVE: This study was undertaken to evaluate the relationship of an isolated fetal intracardiac echogenic focus in a population of patients with a mixed risk for aneuploidy when presenting for prenatal diagnosis. STUDY DESIGN: All women referred to our institution for screening ultrasound were prospectively evaluated for the presence of an intracardiac echogenic focus in the fetal heart. Each patient was evaluated for the presence of clinical risk factors including ultrasound findings, biochemical screening, and maternal age. The population of patients was then described and neonatal outcomes were obtained. RESULTS: A total of 10,875 patients were referred and 176 cases of fetal intracardiac echogenic foci were evaluated. There was an overall prevalence of 1.6% in our population. The patients with other ultrasound findings and/or maternal age older than 35 years who underwent amniocentesis had 3 abnormal karyotypes identified and had identifiable risk factors. In the group less than 35 years, the relative risk was 2.55 of having an amniocentesis for an isolated echogenic focus (with no cases of fetal aneuploidy found) in comparison with our referred group of nonadvanced maternal age patients without any ultrasound markers or findings. CONCLUSION: This isolated echogenic finding appears to be a benign variant and not an increased risk for fetal aneuploidy. The chromosomal abnormalities were seen in the group with risk factors including maternal age and/or other ultrasound findings. Evaluation of maternal age, biochemical markers, and ultrasound markers should be used together to help determine the risk of patients with an isolated echogenic focus.

Adult↗

First-trimester risk assessment: twin gestations.

OBJECTIVE: To determine the role of first-trimester screening in multiple gestations. MATERIALS AND METHODS: A review of the literature revealed numerous studies in this area. However, most of the studies involved first-trimester singleton pregnancies. RESULTS: The few studies that reviewed the experience with multiple gestations demonstrated feasibility of this technique. However, the detection rate for twin gestations was less than that of singleton gestations. CONCLUSION: Although the data support the value of screening twins with biochemistry and ultrasound in the first trimester, further study is necessary to determine the most sensitive method.

Adult↗

Three- and 4-dimensional ultrasound in obstetrics and gynecology: proceedings of the American Institute of Ultrasound in Medicine Consensus Conference.

The American Institute of Ultrasound in Medicine convened a panel of physicians and scientists with interest and expertise in 3-dimensional (3D) ultrasound in obstetrics and gynecology to discuss the current diagnostic benefits and technical limitations in obstetrics and gynecology and consider the utility and role of this type of imaging in clinical practice now and in the future. This conference was held in Orlando, Florida, June 16 and 17, 2005. Discussions considered state-of-the-art applications of 3D ultrasound, specific clinical situations in which it has been found to be helpful, the role of 3D volume acquisition for improving diagnostic efficiency and patient throughput, and recommendations for future investigations related to the utility of volume sonography in obstetrics and gynecology.

Female↗

Association of extreme first-trimester free human chorionic gonadotropin-beta, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth restriction and other adverse pregnancy outcomes.

OBJECTIVE: The purpose of this study was to determine the association between first-trimester trisomy 21 screening markers (free human chorionic gonadotropin-beta [hCG], pregnancy-associated plasma protein A [PAPP-A], and nuchal translucency) and adverse pregnancy outcome. STUDY DESIGN: This was a cohort study of 8012 patients enrolled in a National Institute of Child Health and Human Development-sponsored study of first-trimester trisomy 21 and 18 screening. Trisomy 21 and 18 risk results and individual marker levels in unaffected pregnancies and pregnancies with adverse outcomes were evaluated. RESULTS: PAPP-A <1st percentile (OR 5.4, 95% CI 2.8-10.3) and PAPP-A <5th percentile (OR 2.7, 95% CI 1.9-3.9) and free beta-hCG <1st percentile (OR 2.7, 95% CI 1.3-5.9) were associated with increased risk of intrauterine growth restriction (IUGR) with positive predictive values of 24.1%, 14.1%, and 14.3%, respectively. PAPP-A <5th percentile (OR 2.3 95% CI 1.1-4.7) and nuchal translucency >99th percentile (OR 3.5, 95% CI 1.1-11.3) were associated with increased risk of preterm delivery before 34 weeks. Increased risk at screening for trisomy 21 and 18 identified 16 of the 29 other chromosomal abnormalities (55%). Low free beta-hCG, low PAPP-A, and increased nuchal translucency were all associated with an increased rate of fetal abnormality. CONCLUSION: Extreme values of first-trimester free beta-hCG, PAPP-A, and nuchal translucency are all associated with adverse outcomes. The especially high predictive value for IUGR of PAPP-A levels below the 1st percentile suggests that patients within this group may benefit from increased surveillance for this condition.

Chorionic Gonadotropin, beta Subunit, Human↗

Pregnancy-associated plasma protein A, free beta-hCG, nuchal translucency, and risk of pregnancy loss.

OBJECTIVE: To estimate the likelihood of clinical early and late pregnancy loss as a function of first-trimester maternal serum analytes and fetal nuchal translucency measurements. METHODS: Study subjects were recruited for a National Institute of Child Health and Human Development-sponsored multicenter cohort study initially designed to study the detection of Down syndrome during the first trimester of pregnancy. The cohort consisted of women who had a live fetus between 10 and 14 weeks of gestation and had no significant vaginal bleeding. Women with prior fetal trisomy (T21/18) and those with structural or chromosomal abnormalities in the index pregnancy were excluded. First-trimester screening consisted of pregnancy-associated plasma protein A (PAPP-A), free beta-hCG, and nuchal translucency. Pregnancy loss rates in women with various levels of PAPP-A, free beta-hCG, or nuchal translucency (less than 1st, less than 5th, more than 95th, and more than 99th percentile) were compared with losses in women with normal values (5th to 95th percentile). RESULTS: The mean gestational age at screening of 7,932 women meeting study criteria was 12.1 weeks. Loss rates were only 0.36% at less than 20 weeks after normal free beta-hCG, PAPP-A, and nuchal translucency. Conversely, low levels of PAPP-A and free beta-hCG as well as increased nuchal translucency were individually associated with increased early loss. These associations persisted after controlling for maternal age and race using logistic regression analysis. CONCLUSION: Normal values of PAPP-A, free beta-hCG, and nuchal translucency are associated with a very low risk of pregnancy loss at less than 20 weeks.

Abortion, Spontaneous↗

Sequential pathways of testing after first-trimester screening for trisomy 21.

OBJECTIVE: To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free beta-hCG), with disclosure of risk estimates. METHODS: In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with alpha-fetoprotein, unconjugated estriol, and total hCG was performed in 4,145 (7 with trisomy 21) of 7,392 (9 with trisomy 21) women who were first-trimester screen-negative and 180 (7 with trisomy 21) of 813 (52 with trisomy 21) who were first-trimester screen-positive. Second-trimester risks were calculated using multiples of the median and a standardized risk algorithm with a cutoff risk of 1:270. RESULTS: Among the first-trimester screen-negative cohort, 6 of 7 (86%) trisomy 21 cases were detected by second-trimester multiple-marker maternal serum screening with a false-positive rate of 8.9%. Among the first-trimester screen-positive cohort, all 7 trisomy 21 cases were also detected in the second trimester, albeit with a 38.7% false-positive rate. CONCLUSION: Our data demonstrate that a sequential screening program that provides patients with first-trimester results and offers the option for early invasive testing or additional serum screening in the second trimester can detect 98% of trisomy 21-affected pregnancies. However, such an approach will result in 17% of patients being considered at risk and, hence, potentially having an invasive test. LEVEL OF EVIDENCE: II-2

Adult↗

Intrauterine growth restriction is accompanied by decreased renal volume in the human fetus.

OBJECTIVE: Intrauterine growth-restricted fetuses are at risk for the development of adult hypertension and related cardiovascular diseases. Congenital oligonephropathy has been postulated as the primary mechanism. The objective of our study was to determine whether ultrasonically obtained in utero measurements of renal volume or renal artery Doppler blood flow differ between fetuses that are intrauterine growth restricted and fetuses that are not. STUDY DESIGN: The study population consisted of women who were referred for a prenatal ultrasound evaluation at a large community medical center. The women were divided into two groups: women with fetal biometry that was consistent with intrauterine growth restriction and women with biometry within normal range. Information was collected on maternal demographics and other factors known to affect fetal growth. We performed detailed fetal renal anthropomorphic and Doppler blood flow measurements in addition to standard fetal biometric measurements on all patients, specifically comparing renal volume and renal artery flow data between the two groups. RESULTS: No differences were observed in maternal age, race, parity, or fetal gestational age. Renal volume in the intrauterine growth-restricted fetuses was 31% (95% CI, 20%-40%), which was less than that in the group of fetuses that were not intrauterine growth restricted after an adjustment was made for gestational age. The ratio of renal volume to estimated fetal weight was 15% (95% CI, 1%-26%), which was less than the same ratio in the fetuses that were not intrauterine growth restricted. There were no differences seen in the renal artery Doppler measurements. CONCLUSION: Intrauterine growth restriction appears to be associated with a decrease in fetal renal volume. Because renal volume is a likely proxy for nephron number, this study supports the hypothesis that intrauterine growth restriction may be linked to congenital oligonephropathy and potentially to hypertension in later life.

Adult↗

An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies.

OBJECTIVE: A multicenter study was undertaken to evaluate the diagnostic efficacy of a genetic sonogram. METHODS: Eight centers provided data on 176 pregnancies complicated by fetal Down syndrome. One hundred thirty-four pregnancies were considered high risk because of advanced maternal age (> 35 years), and 42 were considered high risk for having "abnormal" triple-screen results (risk > 1:250). Each center provided fetal biometric data, information regarding the presence or absence of major structural abnormalities, and between 3 and 6 additional ultrasonographic markers for trisomy 21. The heterogeneity of our 8 independent "sensitivity estimates" was evaluated by Poisson regression, and a single combined estimate of the sensitivity was calculated. RESULTS: Of the total 176 cases of trisomy 21, 125 fetuses (71.0%) had either an abnormal long bone length (femur length, humerus length, or both), a major structural abnormality, or a Down syndrome marker. The combined diagnostic sensitivity was 71.6%, with a range of 63.6% (7 of 11) to 80% (8 of 10). Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal gap) and 46.5% (nuchal skin fold thickness). A condensed regimen of nuchal skin fold thickness, femur length, and a standard anatomic survey would screen in 56.8% of fetuses with Down syndrome. CONCLUSIONS: This 8-center study that included many fetuses with Down syndrome validates the concept that the genetic sonogram can be used to better adjust the Down syndrome risk for high-risk patients.

Biometry↗

Cancer incidence in a population of Jewish women at risk of ovarian cancer.

PURPOSE: To evaluate the incidence and clinical characteristics of ovarian and other cancers in a cohort of women at risk of developing ovarian cancer. PATIENTS AND METHODS: The Gilda Radner Ovarian Cancer Detection Program in Los Angeles, CA, was established in 1991 to study the efficacy of screening in the early detection of ovarian cancer. We present findings from a historical cohort of 290 Jewish women who were offered BRCA testing for three common founder mutations (BRCA1 185delAG and 5382insC and BRCA2 6174delT). RESULTS: In 10 years, 17 cancers were observed (1,111 per 100,000 per year), including six breast and eight ovarian or related cancers. A high proportion of cancers of peritoneal origin was observed. The majority (86%) of women with incident breast or ovarian/peritoneal cancer carried a mutation in the BRCA1 gene. The overall cancer incidence among carriers of mutations in the BRCA1 gene was estimated to be 5,450 per 100,000 per year, corresponding to a cumulative incidence of 47.5% at 10 years. In contrast, the cumulative incidence of cancer among noncarriers was 2.5% (P < 10(-8)). After adjustment for sampling, the risks to BRCA1 mutation carriers at 10 years were estimated to be 21% for ovarian/peritoneal/tubal cancer, 16% for breast cancer, and 36% for all cancers. CONCLUSION: The excess risk of breast and ovarian cancer in Jewish women with a family history of ovarian cancer is largely attributable to mutations in BRCA1. Intensive surveillance by use of CA-125 and ultrasound does not seem to be an effective means of diagnosing early-stage ovarian cancer in this high-risk cohort.

Adult↗

Treatment of ectopic tubal pregnancies by laparoscopy.

Laparoscopy as an aid to the diagnosis of ectopic tubal pregnancy has been widely accepted for several years. As a natural evolution of surgical skills, combined diagnosis and treatment of ectopic tubal pregnancy was carried out laparoscopically in nine patients in whom the diagnosis was suspected. All nine procedures were completed successfully. Intravenous sedation was used in three women and general anesthesia in six. The average hospital stay was 1.5 days, with one patient discharged on the day of surgery; one woman was hospitalized for 6 days due to symptomatic anemia. Surgical specimens were removed successfully in six patients, and the diagnosis confirmed histologically. In no instance where the specimen was left in the cul-de-sac did complications result. No complications were attributable to the procedure. The technique is safe and effective when performed by an experienced laparoscopist, and when provisions for immediate laparotomy are available. It should be noted that this procedure is not intended for patients with massive intraperitoneal bleeding or shock.

Adult↗