A 29-YEAR-OLD Middle Eastern gravida 2 para 1 woman was referred for perinatal evaluation after a routine ultrasound at 21 weeks' gestation was suspicious for skeletal dysplasia (long bones measured Ͻfifth percentile). Bilateral clubbed feet were also noted. Her family history was unremarkable, without a history of skeletal dysplasia. A detailed ultrasound at our institution revealed shortening of all long bones (Ͻfifth percentile) as well as shortening of the fetal foot. The ribs measured at the 50th percentile for gestational age, and the chest circumference was at the 10th to 25th percentile. Bilateral syndactyly of the third, fourth, and fifth digits of the hands was suspected. The hands also had a no-table separation of the second and third digits (Figure 1). Bilateral clubbed feet with a rocker bottom appearance were noted. The right foot was thought to have polydactyly, and the toes of both feet appeared unusually long, except for the great toes, which appeared shortened. The fetal eyes protruded from the orbits. Results of fetal echocardiogram were normal. The karyotype was 46,XX. Cytogenetic studies for Robert syndrome were negative. An ultrasound obtained 13 days later had the additional finding of suspected polydactyly of both feet. The couple opted to terminate the pregnancy and underwent labor induction at 23 weeks' gestation. Autopsy findings (Figure 2) included short long bones of both the upper and lower extremities; short, stubby, tapered fingers; clinodactyly of the fifth fingers bilaterally; short, stubby, great toes bilaterally with wide space between the first and second toes; abnormal palmar creases; short, broad neck; micrognathia; and hypoplastic lungs. Radiography (Figure 3) revealed supernumerary ossification center between the proximal phalanx and the second metacarpal of the index finger. Figure 1. Figure 2. Figure 3.
Introduction: The appearance after breast surgery has become an important aspect of survivorship. The post lumpectomy/post radiation hollow surgical defect negatively impacts cosmesis and patient satisfaction. Oncoplastic procedures will mobilize surrounding tissues into the lumpectomy cavity but adds no volume to the breast. Use of a bioabsorbable 3-dimensional tissue implant (used for targeting radiation) has the additional benefit of adding volume to the breast and enhances the overall cosmetic appearance. Our experience over 3 years provides serial mammograms from which we may objectively categorize cosmetic contour. We report on our 2 and 3 year serial images of our treated patients compared with baseline. Methods: Between May 2014 and June 2018, during lumpectomy for breast cancer we implanted a 3-D tissue implant marker in 170 patients, often combined with oncoplastic reconstruction and followed by radiation treatment. For long term follow-up we had 37 patients with serial mammograms at 2 or 3 years to assess cosmesis. All patients had interviews, physical exams, and serial mammograms to evaluate their cosmetic appearance. Both physician and patient graded their appearance. We also objectively measured and compared the pre-treatment mammogram and the 2-year and 3-year, post-treatment mammogram for symmetry and size using each breast as its own control. Using the post-treatment mammograms, we compared the relative anterior-posterior (depth) measurement of the quadrant bearing the implant as well as the non-cancer quadrant to the similar locations of the pre-treatment mammogram. Both mammogram positioning and radiation effects would balance. We compared the relative change from baseline in the non-cancer portion of the breast to the change from baseline in the cancer portion of the breast as a percent difference from baseline. Results: Patients were treated with lumpectomy, oncoplastic reconstruction, and placement of a 3-D tissue implant. Three implants were removed due to positive margins. No implants were removed for any other reason. There have been no local recurrences. Overall, radiation oncologists felt the 3-D implant was useful for treatment planning in 85% of patients. Of the 37 consecutive patients who have completed an average of 27.8 months of follow-up, cosmesis was rated as excellent/good by clinicians (96%) and patients (94%). Mammograms taken at 2-3 years were compared with initial images. Whole-breast radiation effect varied among patients. Some had significant shrinkage while others had none. These changes were equal in the non-cancer post-radiation quadrants (86.2% vs 87%) demonstrating maintenance of normal breast contour. Our use of the 3-D implant and oncoplastic tissue advancement maintained the pre-operative contour of the breast after lumpectomy with radiation. Conclusions: Breast cancer surgery and radiation is often complicated by poor cosmesis with retraction and volume loss. Using a combination of oncoplastic surgery combined with a 3-D tissue implant, we found the forward projection and contour of the breast at the lumpectomy site was preserved and patient satisfaction was good to excellent. Further investigation of the long-term cosmetic effects of breast cancer surgery should be encouraged. Citation Format: Kaufman CS, Hall W, Behrndt VS, Wolgamot GM, Zacharias K, Rogers A, Smith A, Hill LM, Schnell N. Enhance post-lumpectomy breast contour using oncoplastic surgery (OPS) plus a bioabsorbable 3-D tissue implant [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-16-02.
Poster abstracts nasal bone was 13%, combined ultrasound & biochemical detection rate was 91%. 15/17 fetus with trisomy 21 were detected (88.8%) with 9.4% false positive results (4.7% in women younger 35) (cut off 1/250). Conclusion: Combined screening in the first trimester of pregnancy is an efficient approach for detection of fetal chromosomal diseases. Screening in the first trimester is more effective than in the second trimester of pregnancy. P01.24 Abstract withdrawn P01.25Prenatal diagnosis of tetraploidy in a 13-week fetus with omphalocele and normal nuchal translucency Centro Paulista de Medicina Fetal, BrazilIntroduction: Tetraploidy is characterized by four complete sets of chromosomes (4n = 92). Although frequently reported in spontaneous abortions, tetraploidy is extremely rare in the second and third trimesters, and ultrasound (US) findings in this period are little reported. Case Reported: A 37 years old, 12 weeks pregnant woman was referred to Centro Paulista de Medicina Fetal -Sao Paulo -Brazil -to be submitted to a first-trimester ultrasound screening. We found a fetus with a CRL = 64.7 mm, nuchal translucency (NT) = 2.0 mm, nasal bone (NB) = 2.1 mm and a large omphalocele containing stomach. A chorionic villus sampling was performed and revealed a 92,XXXX karyotype. A new US was performed in 03/31/2006 (14 weeks), with CRL = 81.8 mm, NT = 1.3 mm NB = 3.1 mm and omphalocele measuring 25 × 24 mm, with stomach in it. The parents decided for maintenance of pre-natal care. Discussion: Increased NT is a well known aneuploidy marker, and it's associated with some structural anomalies, including omphalocele. The absence/hypoplastic NB has been investigated as an aneuploidy marker too, specially Down's syndrome. Omphalocele is a major malformation that can be associated with chromosomal abnormalities. There are few reports in the literature of such cases, with tetraploidy associated with these first-trimester US findings.
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