Prenatal diagnosis
CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
Chueh, J.
2018; 30 (2): 102?3
Prenatal diagnosis.
Current opinion in obstetrics & gynecology
Chueh, J.
2017; 29 (2): 71-72
Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.
Journal of ultrasound in medicine
Blumenfeld, Y. J., Davis, A. S., Hintz, S. R., Milan, K., Messner, A. H., Barth, R. A., Hudgins, L., Chueh, J., Homeyer, M., Bernstein, J. A., Enns, G., Atwal, P., Manning, M.
2016; 35 (6): 1353-1358
Abstract
Binder phenotype, or maxillonasal dysostosis, is a distinctive pattern of facial development characterized by a short nose with a flat nasal bridge, an acute nasolabial angle, a short columella, a convex upper lip, and class III malocclusion. We report 3 cases of prenatally diagnosed Binder phenotype associated with perinatal respiratory impairment.
View details for DOI 10.7863/ultra.15.02050
View details for PubMedID 27162279
Abstract
Objective?To evaluate the efficacy and safety of magnesium sulfate in the resolution of vaginal bleeding and contractions in nonsevere placental abruption. Study Design?Thirty women between 24 and 34 weeks of gestation diagnosed with nonsevere placental abruption were randomized to receive magnesium sulfate tocolysis or normal saline infusion. The primary outcome was the proportion of women undelivered at 48 hours with resolution of vaginal bleeding and uterine contractions. Maternal and neonatal outcomes were also compared. Results?Fifteen (50%) women received magnesium sulfate tocolysis and 15 (50%) received intravenous saline. There was no difference in the number of women who were undelivered at 48 hours with resolution of vaginal bleeding and contractions in the magnesium sulfate (80.0%) and saline (66.7%; p-value?=?0.68) groups. There were no differences between groups in the gestational age at randomization, time to uterine quiescence, time on study drug, length of hospitalization, days from randomization to delivery, incidence of side effects, or admissions to the neonatal intensive care unit. Conclusions?Magnesium sulfate tocolysis did not provide a significant difference in pregnancy prolongation in the management of preterm nonsevere placental abruption. Recruitment goals were not met due to the introduction of the use of magnesium sulfate for neuroprotection.
View details for DOI 10.1055/s-0036-1571324
View details for Web of Science ID 000376521500010
View details for PubMedID 26871905
Abstract
Objective?This study aims to determine the clinical outcomes of monochorionic-triamniotic (MT) pregnancies complicated by severe fetofetal transfusion undergoing laser photocoagulation. Study Design?We report two cases of MT triplets complicated by fetofetal transfusion syndrome (FFTS) and a systematic review classifying cases into different subtypes: MT with two donors and one recipient, MT with one donor and two recipients, MT with one donor, one recipient, and one unaffected triplet. The number of neonatal survivors was analyzed based on this classification as well as Quintero staging. Results?A total of 26 cases of MT triples complicated by FFTS were analyzed. In 56% of the cases, the FFTS involved all three triplets, 50% of whom had an additional donor and 50% an additional recipient. Among the 24 cases that survived beyond 1?week after the procedure, the average gestational age of delivery was 29.6 weeks, and the average interval from procedure to delivery was 10.1 weeks. The overall neonatal survival rate was 71.7%, with demises occurring equally between donor and recipient triplets. Overall neonatal survival including survival of at least two fetuses occurred with equal frequency between the different groups. Conclusion?Significant neonatal survival can be achieved in most cases of MT triplets with FFTS.
View details for DOI 10.1055/s-0035-1552931
View details for PubMedID 26495175
View details for PubMedCentralID PMC4603872
Abstract
Objective?Our aim was to assess whether mandated completion of an electronic checklist and a quality assurance (QA) process improved obstetric (OB) ultrasound image documentation. Study Design?A checklist of mandated images based on the American Institute of Ultrasound in Medicine guidelines was created. A baseline QA assessment was performed with a lead senior sonographer reviewing eight random OB examinations for each sonographer. An electronic checklist was then instituted for all OB examinations on each ultrasound machine. It was mandated that each anatomical structure be checked off during real-time image acquisition. A repeat QA assessment of each sonographer was then performed quarterly. Results?Baseline assessments were performed between September 2011 and November 2011. Out of the 110 examinations analyzed, only 49% were deemed "complete" with none of the sonographers having a 100% complete examination rate. Following institution of the mandated electronic checklist, a repeat assessment revealed an 81% complete examination rate for the next quarter, and 90% were complete at the end of a year. All sonographers improved their image acquisition regardless of baseline skill level at the initial QA. Conclusion?A QA process and a mandated standardized electronic checklist improved the image documentation.
View details for DOI 10.1055/s-0035-1545667
View details for Web of Science ID 000354342400013
View details for PubMedID 25730132
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 PubMedID 23884263
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
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 http://10.1097/AOG.0b013e3182736b09
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 PubMedID 23920148
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 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
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 PubMedCentralID PMC2742653
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
