Jeffrey M. Rothenberg

Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus

Chromosomal segregation anomalies often result in trisomy of a single chromosome, which can lead to a disastrous phenotype in the fetus. However, this trisomy is often “rescued” via loss of one of the triploid chromosomes. Depending on which chromosome is eliminated in the rescue, a condition known as uniparental disomy may arise where both copies of a particular chromosome pair originate from the same parent. Here we describe the case of a 32‐year‐old woman who was prenatally diagnosed with trisomy 7 mosaicism via amniocentesis. Forty‐one percent of the colonies analyzed displayed trisomy 7 (two maternal chromosomes and one paternal chromosome); whereas, 59% of the colonies demonstrated a normal, disomic karyotype. Further analysis revealed that the “normal” cell lineage displayed maternal uniparental heterodisomy. Chorionic villus tissue was homogenously trisomic, and cord blood cells were uniformly disomic. This is the first case of trisomy 7/uniparental disomy 7 mosaic fetus reported in the literature. It is important to note that not all such cases will result in lethality or a fetus with major anatomic, developmental, or cognitive abnormalities. In addition, the benefit of pre‐ and post‐screening test counseling and support is discussed in reference to fetuses with chromosomal abnormalities in general and our case in particular.

Sexual Functioning Following Elective Hysterectomy: The Role of Surgical and Psychosocial Variables

In this article, two studies were conducted to investigate the surgical and psychosocial correlates of womens post-hysterectomy sexual functioning. In Study 1, sexual functioning was measured in an online convenience sample of 65 women who had undergone elective hysterectomy. Results suggested that most women experienced improved sexual functioning after their hysterectomy. Women who underwent hysterectomy to treat endometriosis reported less improvement in sexual functioning as compared to women who had hysterectomies for other indications, and women who had abdominal hysterectomies reported less improvement in sexual functioning as compared to women who had vaginal hysterectomies. Sexual functioning post-hysterectomy was associated with psychosocial variables, particularly body esteem and relationship quality. In Study 2, sexual functioning was investigated at two time points three to five months apart in a sample of 14 women who reported developing sexual problems following their elective hysterectomies. Results suggested that, among women suffering from post-hysterectomy sexual dysfunction, sexual pain and difficulty with orgasm increased over time.

Hand-assisted Laparoscopic Management of a Midtrimester Rudimentary Horn Pregnancy with Placenta Increta: A Case Report and Literature Review

Pregnancy in a rudimentary horn is an extremely rare but serious obstetric condition. It is associated with uterine rupture and increased maternal mortality. The standard treatment is excision of the pregnancy and rudimentary horn. Several case reports describe a successful laparoscopic approach for rudimentary horn pregnancies diagnosed in the first trimester. A midtrimester rudimentary horn pregnancy was managed with a hand-assisted laparoscopic technique. This patient sought prenatal care at 19 weeks without any symptoms. A routine ultrasound found an empty uterus and an abdominal pregnancy was suggested. She subsequently had a hand-assisted laparoscopic delivery of a 19-week fetus with excision of the left-sided noncommunicating rudimentary horn. Intraoperative and pathologic findings were both consistent with a noncommunicating uterine horn pregnancy with placenta increta. Midtrimester rudimentary horn pregnancy can be successfully managed via hand-assisted laparoscopy in a patient who is hemodynamically stable.

Hematometra after Thermal Balloon Endometrial Ablation in a Patient with Cervical Incompetence

BACKGROUND Thermal balloon endometrial ablation is a relatively safe nonsurgical treatment for menorrhagia. Hematometra follows this procedure in <3 % of patients, but risk factors for this complication are unclear. CASE A woman with a history of cervical incompetence during pregnancy later developed cervical occlusion and hematometra after thermal balloon endometrial ablation. Cervical occlusion did not recur after cervical dilatation and temporary placement of a catheter as a stent. CONCLUSION The normal resistance of the internal cervical os may be an important factor in avoiding thermal damage to the cervix during thermal balloon endometrial ablation. This case suggests that a history of cervical incompetence may be a clinical indicator of decreased cervical resistance.

LOCATION OF THE TRANSVERSE COLON IN RELATIONSHIP TO THE UMBILICUS : IMPLICATIONS FOR LAPAROSCOPIC TECHNIQUES

STUDY OBJECTIVE To establish the location of the transverse colon in relationship to the umbilicus, and determine if it varies as a function of patient height or weight. DESIGN Retrospective review of computed tomograms (CT) of the abdomen (Canadian Task Force classification II-2). SETTING University hospital. PATIENTS Sixty-seven women with normal abdominal anatomy. INTERVENTION Review of abdominal CT scans. MEASUREMENTS AND MAIN RESULTS The relative relationships of the transverse colon and umbilicus were compared with age, height, weight, and body mass index (BMI = kg/m2) using multiple regression analysis. Average location of the superior margin of the transverse colon was 4.6 cm (95% CI 3.5-5.7 cm) above the umbilicus. In nine (13%) women it was below the umbilicus. The colon was below the umbilicus in 25% of nonobese women (BMI <25 kg/m2). CONCLUSION Because the transverse colon lies below the umbilicus in more than 10% of women, injury to it may be an uncommon yet unavoidable complication of laparoscopy.

Aeromedical Evacuation of Obstetric and Gynecological Patients

Long-distance AE of obstetric and gynecological patients present many unique challenges. An understanding of the common diagnoses and their related complications might help minimize the risk of these complications during AE. This knowledge might also help the medical flight crew develop a rational approach to emergency in-flight treatment.