Prenatal ultrasound findings of covered bladder exstrophy and persistent cloaca.

Unlike classic exstrophy, covered bladder exstrophy is a rare variant characterized by a cycling bladder and intact abdominal wall. We present a case of covered bladder exstrophy diagnosed prenatally and associated persistent cloaca (PC) noted only after delivery. This case report demonstrates that prenatal diagnosis of covered bladder exstrophy is possible and PC can present without any abdominal cysts, bowel, or renal findings.

Bilateral subependymal pseudocysts as a pitfall in diagnosis of absence of the cavum septum pellucidum.

Absent cavum septum pellucidum in the fetus is a common condition that may be associated with a variety of associated abnormalities. Herein, we present a case to emphasize a new pitfall in the differential diagnosis of the absence of the cavum septum pellucidum (CSP). Prenatal ultrasound views were concerning for partially absent CSP in the third trimester and subependymal pseudocysts (SEC) after a normal CSP visualization in the second trimester.

Is the Presence of the Father of the Baby during First Prenatal Ultrasound Study Visit Associated with Improved Pregnancy Outcomes in Adolescents and Young Adults?

This study examined whether the presence of the father of the baby (FOB) at the first prenatal ultrasound study (US) visit of pregnant adolescents and young adults (AYA) is a marker for improved pregnancy outcomes. Charts of 400 pregnant AYA aged 14-22 years seen at an academic maternity hospital were assessed retrospectively for support persons brought to prenatal US visits. Logistic regression analysis was used to examine the association between FOB presence and gestational age and birth weight.

Prenatal diagnosis and findings of tetrasomy 9p.

Tetrasomy 9p is a rare condition initially reported by Ghymers et al. Reported cases are a mix of prenatal and neonatal/pediatric cases in non-mosaic and mosaic cases. We report on the common mechanism leading to this form of chromosome abnormality, the various types of tetrasomy 9p as well as the prenatal sonographic and laboratory presentation of our case and previously reported cases with mosaic and non-mosaic tetrasomy 9p.

Laparoscopic single-site linear salpingostomy for the management of heterotopic pregnancy: a case report.

Background: The laparoscopic management of tubal pregnancy component of a heterotopic pregnancy was conducted via multiport approach. In this report we describe a new technique using a single port approach with long-term follow-up.

Case: A 27-year-old woman, G4P1031, presented with a heterotopic pregnancy after 2 years of infertility treatment.

Prenatal detection of cardiac anomalies in fetuses with single umbilical artery: diagnostic accuracy comparison of maternal-fetal-medicine and pediatric cardiologist.

Aim: To determine agreement of cardiac anomalies between maternal fetal medicine (MFM) physicians and pediatric cardiologists (PC) in fetuses with single umbilical artery (SUA).

Methods: A retrospective review of all fetuses with SUA between 1999 and 2008. Subjects were studied by MFM and PC, delivered at our institution, and had confirmation of SUA and cardiac anomaly by antenatal and neonatal PC follow-up.

Laparoscopic cervicoisthmic cerclage: technique and systematic review of the literature.

Background And Aims: To report on and review the outcome after laparoscopic cervicoisthmic cerclage (LCC) and robotic-assisted laparoscopic cervicoisthmic cerclage.

Methods: We reported on 4 cases of LCC and conducted a systematic review of the literature up to May 2012 to identify obstetric outcomes after LCC and robotic-assisted LCC.

Results: The median age of our series was 35 years (range: 31-41) with median previous pregnancies 3.

Germline mosaicism in Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.

Gravid hysterectomy following history of recurrent ruptured uterus: case report.

The risk of uterine rupture and its associated morbidities increases as the incidence of cesarean deliveries increases. There is little evidence guiding the management of pregnancy termination in patients with a history of uterine rupture. A 21-year-old woman with a history of a classical cesarean delivery and four subsequent uterine ruptures presented for termination of pregnancy at 17 weeks and 2 days.

McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.

Prenatal evaluation of abdominal cystic masses can be complex and challenging. We report the case of a fetus with a large cystic abdominal mass and discuss how the differential diagnosis was narrowed to include McKusick-Kaufman syndrome (MKS). MKS is characterized by the triad of postaxial polydactyly, congenital heart disease, hydrometrocolpos, and genital malformations in males.

Comparison of 3- and 2-dimensional sonographic techniques for counting ovarian follicles.

Objective: The purpose of this study was to compare 3-dimensional (3D) and 2-dimensional (2D) ovarian follicle counts and 3D counts using stored volumes between experienced and inexperienced operators.

Methods: Follicles larger than 5 mm were counted on 1 randomly selected ovary. Two-dimensional follicle counts were compared with stored 3D volumes by the same experienced operator (registered diagnostic medical sonographer [RDMS]).

The role of ultrasound in pregnancy-related emergencies.

Most complications of pregnancy allow time for transfer to specialized obstetric ultrasound units, but many women present to the emergency room or the labor and delivery unit with signs and symptoms suggesting genuine acute medical emergencies, where successful outcome depends on prompt diagnosis of the disorder and rapid appropriate medical management. The use of ultrasound technology in obstetric emergencies is well established. Ultrasonography plays a major role in such cases as the most important tool clinicians are using to identify the correct etiology and diagnosis, whereas in other cases it helps limit the differential diagnosis.

The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein.

Congenital erythropoietic porphyria (CEP), also termed Günther's disease, is extremely rare and is inherited as an autosomal recessive trait. The mutation that causes the most severe deficiency of the enzyme uroporphyrinogen III synthase (URO-synthase) is C73R. Inheritance of two abnormal alleles results in the accumulation of porphyrins of isomer type I that are biologically useless but cause a wide spectrum of abnormalities in multiple organs.

Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice.

The intent of this study was to document current practices in breast cancer genetic counseling and identify areas of variability for patients with a variant of uncertain significance (VUS) in the BRCA1 or BRCA2 gene. Registered members of the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group (SIG) were sent an invitation via electronic mail to participate in an online questionnaire. The questionnaire was divided into three sections: clinical experience, clinical meaning, and risk perceptions and clinical recommendations for clinical situations involving a VUS.