Claudio Coco - Academia.edu (original) (raw)

Papers by Claudio Coco

Ultrasound in Obstetrics & Gynecology

Ultrasound in Obstetrics & Gynecology, 2016

Journal of prenatal medicine

to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected... more to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008. of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%]. in our stu...

Journal of prenatal medicine, 2014

Journal of prenatal medicine, 2013

to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenita... more to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents. a total of 12.472 Caucasian women gave informed consent for this test. Seventy-seven cases were excluded. From the 12.395 amniotic fluid analysis remained, the following was found: 2 cases of 35delG homozygosis and 352 cases of heterozygous carriers (42 M34T mutation, 298 35delG mutation, 12 double heterozygosis M34T/35delG). The follow up in first year of life in the 42 newborns with heterozygosis for M34T mutation showed a mild deafness in 2...

Journal of prenatal medicine, 2008

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and... more The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles. We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2004

The main objective of this study was to determine whether isolated choroid plexus cysts are a ris... more The main objective of this study was to determine whether isolated choroid plexus cysts are a risk factor for trisomy 18. A total of 12,672 unselected patients were examined, and the outcome of fetuses with choroid plexus cysts was assessed. The cases with choroid plexus cysts were selected from the 12,672 patients and further divided into cases with minor markers of aneuploidy and cases with associated structural anomalies. Previous similar work was reviewed, analyzed, and, where possible, compared with the results of this study. The findings revealed 366 fetuses with choroid plexus cysts (2.9%). Thirty-three percent of fetuses with trisomy 18 had choroid plexus cysts, and, in every case, structural anomalies were also present. From the 12 cases with choroid plexus cysts in addition to major associated anomalies, amniocentesis revealed 2 cases of trisomy 18. Forty-three patients who had choroid plexus cysts and minor anomalies within our population had normal outcomes. These result...

Ultrasound in Obstetrics and Gynecology, 2007

Methods: A prospective cohort study was designed. Twodimensional ultrasound (2D) (193 women) and ... more Methods: A prospective cohort study was designed. Twodimensional ultrasound (2D) (193 women) and three-dimensional ultrasound (3D) were performed (100 pregnant patients). Excluded were those with multiple pregnancies, congenital anomalies, abnormal karyotype and poly or oligohydramnios. For the 2D ultrasound we used the parasagittal plane in order to view and measure the soleus muscle. Measurements were carried out between the tibia and outer border of the skin, at the point of the upper third of the tibia. For the 3D ultrasound multiplanar images were used to measure the popliteus and the gastrocnemius. Results: The soleus muscle width increases with increasing gestational age (r 2 = 0.9403; P = 0.0001). Also, the muscle and bone ratio decreases statistically significantly throughout pregnancy, but the slope is insignificant (r 2 = 0.2198; P = 0.001). The popliteus and the gastrocnemius muscles' width also increase with increasing gestational age (r 2 = 0.857, P < 0.0001), as does the ratio between soleus and the gastrocnemius muscles and the tibia (r 2 = 0.158, P = 0.001). Conclusions: The present data provide a nomogram of the calf's depth with a direct correlation between muscle growth and gestational age. Measurements of calf growth performed by a combination of 2D and 3D ultrasound are highly reproducible with relative ease, between 15 and 42 weeks' gestation. This nomogram can offer a basis for normal calf development and may assist in distinguishing between different etiologies leading to club foot and other joint contractures.

Surgery Today, 2005

We report a case of synchronous bilateral breast cancer in a patient with ambiguous external geni... more We report a case of synchronous bilateral breast cancer in a patient with ambiguous external genitalia attributed to a 45,X/46,XY mosaicism. To our knowledge, this represents the first such case ever to be reported. Mammography, ultrasonography, computed tomography, and magnetic resonance imaging all showed bilateral suspicious breast masses with microcalcifications. There were no radiological findings of muscle invasion or axillary lymphadenopathy. The patient was successfully treated by bilateral radical modified mastectomy followed by external irradiation and adjuvant endocrine therapy. Histological examination revealed a bilateral ductal carcinoma in situ, with a cribriform and papillary pattern and microfoci of infiltrating ductal carcinoma. The hormonal profile revealed high levels of follicle-stimulating hormone and luteinizing hormone, and low levels of testosterone. Testicular sonography revealed small hypoechoic testicles with bilateral microlithiasis. This case shows that 45,X/46,XY men may have an increased risk of breast cancer and must be followed up carefully.

RadioGraphics, 2010

In recent years, preoperative therapy has become standard procedure for locally advanced rectal c... more In recent years, preoperative therapy has become standard procedure for locally advanced rectal cancer. Tumor shrinkage due to preoperative chemotherapy-radiation therapy (CRT) is now a reality, and pathologically complete responses are not uncommon. Some researchers are now addressing organ preservation, thus increasing the demand for both functional and morphologic radiologic evaluation of response to CRT to distinguish responding from nonresponding tumors. On magnetic resonance (MR) images, post-CRT tumor morphologic features and volume changes have a high positive predictive value but a low negative predictive value for assessing response. Preliminary results indicate that diffusion-weighted MR imaging, especially at high b values, would be effective for prediction of treatment outcome and for early detection of tumor response. Some authors have reported that the use of apparent diffusion coefficient values in combination with other MR imaging criteria significantly improves discrimination between malignant and benign lymph nodes. Sequential determination of fluorodeoxyglucose uptake at positron emission tomography/computed tomography has proved useful in differentiating responding from nonresponding tumors during and at the end of CRT. However, radionuclide techniques have limitations, such as low spatial resolution and high cost. Large studies will be needed to verify the most effective morphologic and functional imaging modalities for post-CRT restaging of rectal cancer. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.303095085/-/DC1.

Prenatal Diagnosis, 2009

Objective To compare procedure-related pregnancy loss after second-trimester genetic amniocentesi... more Objective To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls.

American Journal of Obstetrics and Gynecology, 2005

The primary objective of this study was to determine if isolated pyelectasis is a risk factor for... more The primary objective of this study was to determine if isolated pyelectasis is a risk factor for trisomy 21. Study design: Twelve thousand, six hundred and seventy-two unselected singleton fetuses were examined by prenatal ultrasound during the second trimester at a single institution. The sensitivity, specificity, positive predictive value, negative predictive value, and likelihood ratio of pyelectasis (either isolated or in association with other soft markers/structural anomalies) to detect trisomy 21 were calculated. Results: Pyelectasis (anteroposterior pelvic diameter R4 mm) was detected in 2.9% (366/12,672) of the fetuses. Among these, 83.3% (305/366) were isolated, and 16.7% (61/366) were associated with other markers/structural anomalies. The prevalence of trisomy 21 was 0.087% (11/12,672) and, among these fetuses, 2 (18.1%) had pyelectasis, 1 isolated, and 1 associated with other markers/structural anomalies. The presence of isolated pyelectasis had 9.09% sensitivity, 97.6% specificity, 0.33% positive predictive value, and 99.9% negative predictive value to detect fetuses with trisomy 21. The likelihood ratio of trisomy 21 in this group of fetuses was 3.79 (95% CI 0.582-24.616). Among fetuses with pyelectasis and other associated markers/structural anomalies, the sensitivity, specificity, positive predictive value, negative predictive value, and likelihood ratio for trisomy 21 were 9.09%, 99.5%, 1.64%, 99.9%, and 19.2 (95% CI 2.91-126.44). Conclusion: In the absence of other findings, isolated pyelectasis is not a justification for the performance of an amniocentesis.