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. Covered bladder exstrophy should be considered in the differential of cystic protrusion of the bladder to the abdominal wall.

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. The postnatal MRI demonstrated a normal corpus callosum, normal gyration, normal opthalmic nerves, and isolated SEC blocking the views of cavum septum pellucidum.

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. Of 400 charts with support person recorded, 298 charts with first US visit data, singleton birth, and complete gestational data available were analyzed. FOB was present at 30.2% of visits, while the parent of the mother was present at 34.2% of visits. With FOB present, 3.3% of infants were born preterm (gestational age < 37 weeks) compared with 10.5% of infants with FOB absent (p = 0.04). Patients with FOB present also had significantly earlier gestational age at the first US visit (15 weeks) than those who did not (19 weeks; p = 0.02). For AYA, the presence of FOB at initial prenatal US visits is a predictor of improved pregnancy outcome and likely represents increased support during the pregnancy.

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. From these reported cases, a recognizable syndrome is emerging. Multiple fetal abnormalities amenable to ultrasound diagnosis are likely to be present. However, neither ultrasound study alone nor the first-trimester screen for the common aneuploidies can suggest the correct diagnosis. Chromosome study of more than a single tissue is necessary in order to establish the correct diagnosis and to differentiate between mosaic and non-mosaic tetrasomy 9p cases.

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. She underwent multiple surgeries to excise left ovarian cysts, lysis of adhesions, and recanalization of the right fallopian tube. During this time she also experienced a left-sided ectopic pregnancy and was treated with a traditional operative laparoscopy. Upon diagnosis of a heterotopic pregnancy, the decision was made to perform a laparoendoscopic single-site (LESS) procedure for treatment of a right ectopic pregnancy via a salpingostomy to preserve her potential for future spontaneous conception. A linear salpingostomy procedure was performed without complications, and the patient was able to carry her intrauterine pregnancy to term. CONCLUSION: The LESS procedure is effective in resolving an ectopic pregnancy without affecting a coexisting intrauterine pregnancy, and preserving the potential for future spontaneous pregnancies. This approach should be considered for eligible patients with a heterotopic pregnancy who desire preservation of tubal function. (J Reprod Med 2014;

A cohort study of Plasmodium falciparum malaria in pregnancy and associations with uteroplacental blood flow and fetal anthropometrics in Kenya.

OBJECTIVE: To use ultrasound to explore the impact of malaria in pregnancy on fetal growth and newborn outcomes among a cohort of women enrolled in an intermittent presumptive treatment in pregnancy (IPTp) with sulfadoxine/pyrimethamine (SP) program in coastal Kenya. METHODS: Enrolled women were tested for malaria at first prenatal care visit, and physical and ultrasound examinations were performed. In total, 477 women who had term, live births had malaria tested at delivery and their birth outcomes assessed, and were included in the study. RESULTS: Peripheral malaria was detected via polymerase chain reaction among 10.9% (n=87) at first prenatal care visit and 8.8% (n=36) at delivery. Insecticide-treated bed nets (ITNs) were used by 73.6% (n=583) and were associated with decreased malaria risk. There was a trend for impaired fetal growth and placental blood flow in malaria-infected women in the second trimester, but not later in pregnancy. Among women with low body mass index (BMI), malaria was associated with reduced birth weight (P=0.04); anthropometric measures were similar otherwise. CONCLUSION: With IPTp-SP and ITNs, malaria in pregnancy was associated with transient differences in utero, and reduced birth weight was restricted to those with low BMI.

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. Subjects were divided into four groups: isolated SUA, SUA and isolated cardiac anomaly, SUA and multiple anomalies without heart anomalies, and SUA and multiple malformations including cardiac anomaly. RESULTS: 39,942 cases were studied between 1999 and 2008. In 376 of 39,942 cases (0.94%), SUA was diagnosed. Only 182 (48.4%) met inclusion criteria. Cardiac anomalies were found in 21% (38/182). Agreement between MFM physicians and PC in all groups combined was 94% (171/182) (95% CI [89.2, 96.8]). MFM physicians overdiagnosed cardiac anomalies in 4.4% (8/182). MFM physicians and PC failed to antenatally diagnose cardiac anomaly in the same two cases. CONCLUSIONS: Good agreement was noted between MFM physicians and PC in our institution. Studies performed antenatally by MFM physicians and PC are less likely to uncover the entire spectrum of cardiac abnormalities and thus neonatal follow-up is suggested.

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 3.5 (2-5). All 4 women had successful obstetric outcomes with a median gestational age at delivery of 37 weeks (range: 36-38). The systematic review identified 25 studies (162 women underwent LCC and 3 had robotic-assisted LCC). In the interval LLC studies, the median age was 33 years (range: 22-42); with a median gestational age at delivery of 37 weeks (range: 34-38). For prophylactic LCC, the median age was 31 years (range: 27-41); with a gestational age at delivery of 37 weeks (range: 19-39). Two of the three robotic-assisted LCC procedures were done prophylactically. The median age was 27 years (range: 23-37) with a median gestational age at delivery of 37 weeks (range: 35-38). CONCLUSION: LCC is feasible during and in between pregnancies as well as in congenitally malformed uteri. Current evidence suggests that LCC might be of benefit in selected cases of cervical insufficiency with short cervices.

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 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS.

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. Ultrasound study noted anterior wall implantation of the placenta covering the classical cesarean scar as well as the subsequent cesarean section scars. A scheduled gravid hysterectomy was performed to complete the pregnancy termination and avoid recurrent uterine rupture. Pathological examination revealed marked attenuation and fibrosis of the anterior uterine wall with diffuse placenta accreta and focal placenta percreta justifying the decision for hysterectomy in this young patient. We therefore suggest that gravid hysterectomy rather than dilatation and evacuation should be considered for pregnancy termination in patients with history of recurrent uterine rupture and suspicion for abnormal placentation.

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. Rare conditions such as MKS are difficult to diagnose prenatally and require postnatal phenotyping and molecular studies before a definitive diagnosis can be established.

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]). Counts using 3D stored data were compared between the experienced operator and inexperienced operator (principal investigator [PI]). The mean difference in follicle counts was computed, and a 1-sample Student t test was performed to test the hypothesis that the mean of the differences was 0. Comparison of the 2 methods and observers by Bland-Altman plots was used to determine any systematic differences based on the total number of follicles per selected ovary. RESULTS: Mean differences differed from 0 (P < .005) for all 3 comparisons: 2D RDMS versus 3D RDMS, 2D RDMS versus 3D PI, and 3D RDMS versus 3D PI. For the comparison of 2D versus 3D counts done by the RDMS, 5 ovaries (10%) had a difference of more than 5 follicles counted; for the 2D RDMS versus 3D PI, 11 ovaries (22%) had a difference of more than 5 follicles; for the 3D RDMS versus 3D PI, 8 ovaries (16%) had a difference of more than 5 follicles. Mean differences in counts ranged 0.29 to 1.04 for ovaries with 10 or fewer follicles compared with 3.94 to 9.00 for ovaries with more than 10 follicles. CONCLUSIONS: Follicle counts using 3D volumes were similar to 2D counts, and 3D follicle counts done by an inexperienced operator were similar to counts done by an experienced sonographer.

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. One of the goals of any advanced training program in obstetrics and gynecology and radiology is to allow the skilled physician to perform the proper ultrasound study in case of an obstetric emergency to facilitate the proper diagnosis, enabling the medical team to provide the best possible care.

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. The intrauterine diagnosis of the first affected conceptus within a family is extremely challenging despite abnormal ultrasound findings suggesting severe fetal anemia. We report the abnormal findings in a pair of successive pregnancies in a single Caucasian family that yielded two C73R homozygous affected offspring. The course of the pregnancies, sonographic and laboratory abnormalities, method used for intrauterine diagnosis, therapeutic interventions, and variability of outcome between cases within a single family and the difficulty in managing even prenatally diagnosed cases are reported and discussed.

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. Fifty-seven of the eligible members responded. During the pre-test counseling session for a BRCA risk assessment patient, the vast majority of counselors (80.7%) mention VUS as a possible test result. Nearly half, 49.1%, report having given such a result to their patients at least one to four times. However, only 63.2% felt as though their patients understood the meaning of a VUS result. When asked to conclude the implication of a VUS and make medical management recommendations, the responses were varied. Nevertheless, a good proportion of counselors expressed the importance of testing other family members to help clarify the proband's risk and aid in medical management issues. Although the recent recommendations by the American College of Medical Genetics suggest standards for the interpretation of sequence variations, they do not provide guidelines for making clinical recommendations based on these variations. The results of this study reveal significant diversity in the personal interpretation of a VUS result, leading to various clinical recommendations, and suggest a need for clinical management recommendations as well.