Faculty Bibliography

Spontaneous antepartum septostomy occurring in monochorionic diamniotic twins is extremely rare. We present a case in which prenatal sonography at 26 weeks' gestation depicted a monochorionic diamniotic twin gestation with concordant fetal growth and findings suggestive of a true knot of the umbilical cord. At Cesarean delivery at 34 weeks' gestation, spontaneous antepartum septostomy with entanglement of the two separate umbilical cords was noted. This case suggests that the differential diagnosis of findings considered consistent with a true knot of the umbilical cord in monochorionic diamniotic twin gestations, should include spontaneous antepartum septostomy and umbilical cord entanglement.

BACKGROUND:There are a few cases of "small cell neuroendocrine carcinoma" of the Bartholin's gland as well as Merkel cell carcinoma of the vulva reported in the gynecologic oncology literature, most with aggressive clinical behavior. Merkel cells were originally described in the epidermis with neuroendocrine properties. Merkel cell carcinoma is different from the neuroendocrine small cell (oat cell) tumor arising in the lung and other internal organs based on morphology and immunohistochemistry. CASE/METHODS:A 49-year-old female was diagnosed with a FIGO stage I Merkel cell carcinoma of the Bartholin's gland. The tumor originated from the duct and stained with endocrine markers and cytokeratin 7 and 20. She was treated with radical wide local excision and bilateral inguinal lymph node dissection followed by radiation therapy to the pelvis, perineum, vulva, and inguinal regions. Two years after the diagnosis, she is alive with no evidence of recurrent disease. CONCLUSION/CONCLUSIONS:This is a case of Merkel cell carcinoma of the Bartholin's gland discovered in the early stage with a survival of 2 years following diagnosis and treatment with no evidence of disease recurrence.

OBJECTIVE:To assess whether fetal cerebral vascular resistance is affected by the presence of nuchal cord(s) in the third trimester. METHODS:A set of 115 patients with well-established dates and singleton, appropriate for gestational age (GA), non-anomalous fetuses with nuchal cord(s) diagnosed with prenatal color Doppler imaging, between 28 and 41 weeks and 115 controls matched for GA, were studied. Patients with hypertension, diabetes and autoimmune conditions were excluded. Doppler indices were obtained from the umbilical artery (UA) and the fetal middle cerebral artery (MCA) upon initial diagnosis of the nuchal cord. RESULTS:Of 115 GA-matched pairs of pregnancies, 103 fetuses had a single nuchal cord and 12 a double nuchal cord. No significant differences were noted in patient age, gravidity, parity, sonographically estimated fetal weight (SEFW), and growth centile at ultrasonographic diagnosis. Mean UA systolic/diastolic ratio (S/D) was 2.28 +/- 0.32 and 2.36 +/- 0.33 (P = 0.03) and UA resistance index (RI) 0.55 +/- 0.06 and 0.57 +/- 0.06 (P = 0.02) among study and controls, respectively. Mean fetal MCA S/D and RI did not differ significantly between the two groups (fetal MCA S/D 5.01 +/- 1.28 and 5.04 +/- 1.71 (P = 0.86), and mean fetal MCA RI 0.78 +/- 0.06 and 0.78 +/- 0.05 (P = 0.88)). No significant differences were noted in GA at delivery, incidence of meconium-stained amniotic fluid, birth weight, mode of delivery, neonatal gender, 1 and 5 minute Apgar scores, or UA pH and base excess, between study and control patients. CONCLUSION/CONCLUSIONS:Fetal cerebral vascular resistance is not affected by the presence of nuchal cord(s) in the third trimester of pregnancy.

We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

In recent years, testing for cancer susceptibility genes has entered the clinical setting. The practicing physician needs to be familiar with this evolving area of medicine to be able to counsel and/or refer high-risk patients such as those with a strong personal or family history of cancer. The following is a review of the clinically pertinent information regarding hereditary breast and ovarian cancers resulting from mutations in BRCA genes. A special emphasis is placed on the different options available for BRCA mutation carriers, because many interventions have already proven to be highly efficacious. The increased risk of cancer seen in hereditary nonpolyposis colorectal cancer (HNPCC) is not part of this review but is mentioned briefly.