Jane Chueh

Abstract

Bladder cancer is exceedingly rare in pregnancy and most commonly presents with gross hematuria.We describe two patients with the incidental finding of maternal bladder masses identified during routine first-trimester obstetric ultrasonographic evaluation and an ultimate diagnosis of carcinoma. After referral for urology evaluation and biopsy confirmation of bladder cancer, patients underwent surgical resection during their pregnancies without the need for further treatment and had uncomplicated pregnancy courses.The distended maternal urinary bladder at the time of first-trimester ultrasonographic evaluation offers a unique opportunity for examination and early diagnosis of incidental maternal bladder carcinoma.

View details for DOI 10.1097/AOG.0b013e31828c5a4d

View details for PubMedID 23884261

Abstract

Degenerating myomas are common explanations for pain associated with abdominal masses in pregnancy. However, masses arising from other pelvic organs should be included in the differential diagnosis.We present a case of an abdominal mass in pregnancy that was originally misdiagnosed as a uterine leiomyoma. Attention to the patient's history along with judicious use of imaging modalities led to the correct diagnosis of urachal duct carcinoma. This was treated appropriately and resulted in a term vaginal delivery. We present a review of the literature on this tumor and its management in pregnancy.Urologic malignancies are rare but should be considered in the differential diagnosis for any woman presenting with pain and an abdominal mass in pregnancy. A multidisciplinary approach optimizes outcomes.

View details for DOI 10.1097/AOG.0b013e318292a3ab

View details for Web of Science ID 000330460000014

Abstract

Heterotopic abdominal pregnancies with coexisting intrauterine pregnancies pose unique therapeutic challenges, and management options, particularly nonsurgical approaches, are limited.We present a case in which selective reduction of a heterotopic abdominal pregnancy during the second trimester using fetal intracardiac injection with potassium chloride enabled subsequent vaginal delivery of the intrauterine pregnancy at term. In addition, we summarize nine cases of nonsurgical management of heterotopic abdominal pregnancies, four of which involve potassium chloride selective reduction. Our case is unique in that the abdominal fetus remained as a stable lithopedion, allowing the uncomplicated conception and vaginal delivery of a second intrauterine pregnancy without need for surgical intervention.Our case report and literature review demonstrate the use of selective potassium chloride reduction in managing heterotopic abdominal pregnancy nonsurgically.

View details for DOI 10.1097/AOG.0b013e3182736b09

View details for Web of Science ID 000330458900026

View details for PubMedID 23344419

Abstract

Fetal goiter may arise from a variety of etiologies including iodine deficiency, overtreatment of maternal Graves' disease, inappropriate maternal thyroid replacement and, rarely, congenital hypothyroidism. Fetal goiter is often associated with a retroflexed neck and polyhydramnios, raising concerns regarding airway obstruction in such cases. Prior reports have advocated for cordocentesis and intra-amniotic thyroid hormone therapy in order to confirm the diagnosis of fetal thyroid dysfunction, reduce the size of the fetal goiter, reduce polyhydramnios, aid with the assistance of maternal thyroid hormone therapy and reduce fetal malpresentation. We report two cases of conservatively managed fetal goiter, one resulting in a vaginal delivery, and no evidence of postnatal respiratory distress despite the presence of polyhydramnios and a retroflexed neck on prenatal ultrasound. © 2013 S. Karger AG, Basel.

View details for DOI 10.1159/000353387

View details for Web of Science ID 000326134700010

Abstract

Miscarriage is a relatively common occurrence for otherwise healthy women. Despite its frequency, evaluation for cause is rare. The most common cause of miscarriage is sporadic chromosome errors. Chromosomal analysis of the miscarriage offers an explanation in at least 50% of cases. Conventional cytogenetic evaluation can only be done on fresh tissue, so it is critical that the treating physician consider genetic testing at the time of the miscarriage. Ultrasound can estimate the gestational age at the time of miscarriage and identify major abnormalities in some embryos. A careful pathological examination can add to the evaluation by ruling out rare disorders with the highest recurrence risk. A multidisciplinary approach to miscarriage evaluation is essential to understanding the cause and risk of recurrence. A thorough evaluation of a miscarriage, in combination with emotional support, can often provide the necessary reassurance and confidence as the patient prepares for her next pregnancy.

View details for DOI 10.1055/s-0031-1293200

View details for Web of Science ID 000298281100003

View details for PubMedID 22161459

Abstract

To explore angiogenic factor differences in preeclamptic patients according to the absence or presence of underlying vascular disease.We prospectively compared serum soluble fms-like tyrosine kinase 1 (sFlt1), soluble endoglin, and placental growth factor (PlGF) from 41 normal-risk and 32 high-risk (preexisting conditions) subjects at serial gestational ages.Median sFlt1 was lower at delivery in preeclamptic patients with underlying chronic hypertension and/or chronic proteinuria (5115 pg/ml) compared with normal risk preeclamptic patients (16375 pg/ml). PlGF was consistently low in patients who developed preeclampsia.Effects of sFlt1 may be contextual, varying according to the health or disease state of vascular endothelium.

View details for DOI 10.3109/14767050903258753

View details for Web of Science ID 000279865300024

View details for PubMedID 19895348

Abstract

Over the past decade, first trimester screening has become the gold standard prenatal screening modality in the developed world. This shift toward earlier screening would not be possible without the availability of early diagnosis, namely, chorionic villus sampling (CVS). The purpose of this review is to highlight recent updates related to CVS technique, potential complications, and training.Recent data highlight the importance of operator experience in reducing CVS-related complications and argues for the 'centralization' of CVS in experienced centers. On the other hand, despite over 30 years of clinical practice, there is still no consensus regarding optimal CVS technique and some variation exists between CVS providers. Moreover, there is a deficiency in adequate infrastructure geared toward the training and certification of future CVS providers.CVS is the gold standard method of first trimester prenatal diagnosis. Recent data suggest that CVS loss rates are lower than what was previously reported and are lowest in centers that perform a large number of procedures. The 'centralization' of this specialized procedure also offers the perfect opportunity for the safe, ongoing training of future CVS providers.

View details for DOI 10.1097/GCO.0b013e3283372365

View details for Web of Science ID 000276562900010

View details for PubMedID 20154617

Abstract

The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy.Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, 18, and 21), and the number of single molecule amplifications was compared to a reference. The difference between target and reference chromosome counts was used to determine the ploidy of each of the target chromosomes.Digital PCR accurately identified all cases of fetal trisomy (3 cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of triosmy 13) in the 40 specimens analyzed. The remaining specimens were determined to have normal ploidy for the chromosomes tested.Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.

View details for DOI 10.1016/j.ajog.2009.03.002

View details for Web of Science ID 000265253800029

View details for PubMedID 19375573

Abstract

A 38 year-old woman presented with a dichorionic diamniotic twin pregnancy at gestational age of 32 weeks concerning for an abdominal wall mass in one of the twins. Initial ultrasound evaluation was suspicious for an omphalocele, but the affected twin was found to have bladder exstrophy at birth. This illustrates the difficulties of accurate prenatal diagnosis of bladder exstrophy in a twin pregnancy at a late gestation.

View details for DOI 10.1155/2009/186483

View details for PubMedID 19753322

View details for Web of Science ID 000258853200015

View details for PubMedID 18716149

Abstract

The thalassemias are an inherited group of heterogeneous anemias in which one or more of the globin chains in the hemoglobin tetramer are absent. Fetuses with homozygous alpha-thalassemia, which is particularly prevalent in people of Southeast Asian extraction, experience deficient alpha-globin chain synthesis and cannot produce hemoglobin F (the primary fetal hemoglobin after 8 weeks' gestation). Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia.Here we report on two fetuses with homozygous alpha-thalassemia who displayed structural defects of a vascular disruptive type. Both fetuses demonstrated limb anomalies, including terminal transverse limb deficiencies, and one fetus was found to have a brain malformation consisting of a neuronal migrational defect. The limb anomalies and suspected brain malformation were detected on prenatal ultrasound prior to confirmation of the diagnosis of alpha-thalassemia in one case; in the other case prenatal records were not available. While microcephaly, hydrocephalus, and retarded brain growth have been rarely reported in association with homozygous alpha-thalassemia, this is the first report of a true brain malformation in an affected fetus. Limb anomalies, on the other hand, appear to be more frequent. Recently, aggressive in utero and postnatal therapies for homozygous alpha-thalassemia have been attempted with some success.Our cases and those from the medical literature suggest that couples need to be counseled about the risks of congenital anomalies of a vascular disruptive type in affected fetuses. Furthermore, data from the literature suggests that in utero therapy may not significantly decrease these risks as such anomalies may be present prior to the institution of therapy. In addition, in hydropic infants with vascular disruptive defects, especially in those of Southeast Asian origin, homozygous alpha-thalassemia should be suspected as a likely etiology.

View details for DOI 10.1002/pd.1276

View details for Web of Science ID 000234280900003

View details for PubMedID 16231329

Abstract

The purpose of this study was to determine factors that influence the detection rate of sonographic markers of fetal aneuploidy (SMFA).We reviewed the sonographic images of 160 consecutive second-trimester trisomic fetuses for the presence of SMFA, either structural anomalies or sonographic soft markers.One hundred forty-nine (93.1%) records were complete and analyzed; 78 cases (52.3%) were identified with 1 or more SMFA. Sonographic markers of fetal aneuploidy were detected in 42.7%, 75.0%, and 90.9% of trisomies 21, 18, and 13, respectively (P<.005). The detection rate of SMFA had a positive linear correlation with gestational age (adjusted R(2)=0.64; P<.002). Sonographic markers of fetal aneuploidy were detected in 43.7% of fetuses of less than 18.0 weeks' gestation and 64.5% of fetuses of 18.0 weeks' gestation or greater (likelihood ratio=6.4; P<.01). Sonographic markers of fetal aneuploidy were detected in 23.5% of patients with suboptimal image quality versus 58.3% of the others (likelihood ratio=7.5; P<.05). The rate of structural malformation was similar between the male and female fetuses, whereas that of soft markers was 49.4% in male and 30.0% in female fetuses (odds ratio=2.3; range, 1.2-4.5; P<.02). Factor analysis showed that some soft markers and some structural anomalies tended to appear together.The type of fetal trisomy, gestational age, sex, and quality of images influence the detection rate of SMFA. The highest detection rate for SMFA in the second trimester is at or above 18 weeks' gestational age. Certain markers are detected in clusters. These findings may explain, in part, the variability in reported rates of detection of SMFA among trisomic fetuses. These findings need to be prospectively tested in the general population of pregnancies for applicability to sonographic risk calculations for fetal trisomies.

View details for Web of Science ID 000229461900009

View details for PubMedID 15914685