Case Report: Erroneous Human Immunodeficiency Virus-1 Diagnosis in a Pregnant Woman Using Centers for Disease Control and Prevention Diagnostic Algorithm.

We describe a case of a pregnant cisgender woman diagnosed with human immunodeficiency virus (HIV)-1 using the current Centers for Disease Control and Prevention diagnostic algorithm who subsequently had her diagnosis overturned after additional testing outside of the algorithm, including an HIV-1 proviral deoxyribonucleic acid test that was negative.

Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma.

OBJECTIVES: To investigate prenatal imaging findings supporting a diagnosis of suspected septo-optic dysplasia (SOD) by fetal ultrasound (US), magnetic resonance imaging (MRI), or both. METHODS: A retrospective review identified 11 patients with SOD: 9 had a clinical diagnosis of SOD postnatally, and 2 were terminated on the basis of suspicious prenatal imaging. Prenatal and neonatal imaging of the cavum septi pellucidi (CSP), frontal horns (FHs), and lateral ventricles was evaluated. RESULTS: The appearance of the CSP varied on US and MRI. Complete ("fused") FHs or partial absence of the CSP was reported in 6 of 11 patients by fetal US and 7 of 8 patients by fetal MRI. The diagnosis of SOD was prospectively suspected prenatally in 6 of 11 and in an additional 5 of 11 cases retrospectively. Fetal MRI incorrectly initially reported normal morphologic abnormalities for 2 cases with partial absence of the CSP, whereas US accurately identified the morphologic abnormalities in 1 of these cases before MRI. Imaging features were first suggested at anatomic US (4 patients) and follow-up prenatal US (2 patients). Neonatal imaging was concordant in all 9 live births: 5 completely absent CSP, 3 partially absent CSP, and 1 completely present CSP. Clinical manifestations included optic nerve hypoplasia (9 of 9), panhypopituitarism (5 of 9), and neurodevelopmental delays. CONCLUSIONS: Primary imaging features of SOD are "continuous" FHs with complete or partial absence of the CSP. Septo-optic dysplasia can be suspected in utero and can appear isolated but has substantial associated central nervous system anomalies identified on fetal MRI or after birth. Partial absence of the CSP can be a prenatal sign of suspected SOD, although fetal MRI lacked the spatial resolution to identify it accurately in all cases.

Ultrasound Measurements of Frontal Horns and the Cavum Septi Pellucidi in Healthy Fetuses in the Second and Third Trimesters of Pregnancy.

OBJECTIVES: To assess the visualization rate and size of the frontal horns (FHs) and cavum septi pellucidi (CSP) in healthy fetuses throughout pregnancy. METHODS: After Institutional Review Board approval, 522 consecutive uncomplicated singleton pregnancies between 15 and 39 gestational weeks were enrolled in the study. Ultrasound measurements of the anterior horn width (AHW), center from the horn distance (CFHD), distance from the FHs to the CSP, and CSP width were retrospectively performed using axial transventricular or transcerebellar planes. Available maternal body mass indices were recorded. RESULTS: At least 1 FH was seen in 78% of the cases. The mean AHW decreased over the second trimester and plateaued in the third trimester. The CFHD plateaued in the second trimester and increased in the third trimester. Downside FHs were generally larger than upside FHs. More FHs were measured in transventricular (69%) than transcerebellar (31%) planes. Frontal horns were seen with high, low, and no confidence in 57%, 21%, and 22% of cases, respectively. No-confidence rates were 17% in the second trimester and 42% in the third trimester. The CSP was not visualized in 4% of cases; 15 of 19 cases of a nonvisualized CSP were scanned between 18 and 37 weeks. Mean body mass indices ± SDs were 27.6 ± 6.7 kg/m2 for the patients in cases of a visualized CSP and 32.4 ± 9.1 kg/m2 for the patients in cases of a nonvisualized CSP. CONCLUSIONS: Normative data for the fetal FH and CSP width were established. Frontal horns are more frequently seen on transventricular views and are difficult to confidently assess in the late third trimester. This study challenges previously reported data that the CSP is seen in 100% of cases from 18 to 37 weeks.

Ultrasonographic prenatal imaging of fetal ocular and orbital abnormalities.

Technological progress in medicine has provided earlier diagnosis, even into the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or magnetic resonance imaging. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases. Prenatal ocular and orbital diagnosis is best facilitated by a team approach between ophthalmology, radiology, obstetrics, neonatology, and genetic counselors to optimize diagnostic accuracy, familial expectations, and early treatment.

A fetal diagnostic center's referral rate for perinatal palliative care.

BACKGROUND: Fetal specialists support standardizing the practice of offering women palliative care for life limiting fetal diagnoses. However, there is little data available regarding what fetal specialists do in practice. Since 2003, our center has kept a database of all women referred for fetal complications. METHODS: Retrospective electronic chart review of pregnant women between 2006 and 2012 using UCSD's Fetal Care and Genetics Center referral database. Objectives were to determine: (I) how many high risk pregnancies referred to the University of California San Diego Medical Center (UCSD) over a 6-year period have potentially life limiting fetal diagnoses; (II) pregnancy outcome; and (III) referral rate to perinatal palliative care. RESULTS: Between July 2006 and July 2012, 1,144 women were referred to UCSD's Fetal Care and Genetics Center, a tertiary care center. Of that cohort, 332 women (29%) were diagnosed prenatally with a potentially life limiting fetal diagnosis. Most women were Hispanic or Latino, married, and had previous children. The median gestation at confirmed diagnosis was 19 weeks. Trisomy 13, Trisomy 18, and anencephaly comprised 21% of cases. The pregnancy outcome was determined in 95% cases: 56% therapeutic abortion, 16% intrauterine fetal demise, and 23% live birth. Only 11% of cases were referred to perinatal palliative care. CONCLUSIONS: The vast majority of women with potentially life limiting fetal diagnoses are not referred to perinatal palliative care. Evaluation of how to integrate palliative care into high-risk obstetrics is needed.

Second-Trimester Ultrasound as a Tool for Early Detection of Fetal Alcohol Spectrum Disorders.

BACKGROUND: Early detection of fetal alcohol spectrum disorders (FASDs) is desirable to allow earlier and more comprehensive interventions to be initiated for the mother and infant. We examined prenatal ultrasound as an early method of detecting markers of the physical features and neurobehavioral deficits characteristic of FASD. METHODS: A longitudinal cohort of pregnant women in Ukraine was recruited as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders. Women were enrolled into a moderately to heavy-alcohol-exposed group or a low- or no-alcohol exposure group and were followed to pregnancy outcome. In the second trimester, a fetal ultrasound was performed to measure transverse cerebellar diameter, occipital frontal diameter (OFD), caval-calvarial distance, frontothalamic distance (FTD), interorbital distance (IOD), outer orbital diameter, and orbital diameter (OD). Live born infants received a dysmorphological examination and a neurobehavioral evaluation using the Bayley Scales of Infant Development. These data were used to classify infants with respect to FASD. Comparisons were made on the ultrasound measures between those with and without features of FASD, adjusting for gestational age at ultrasound and maternal smoking. RESULTS: A total of 233 mother/child dyads were included. Children classified as FASD had significantly longer IOD and lower FTD/IOD, OFD/IOD, and FTD/OD ratios (p < 0.05). Children with a Bayley score <85 had significantly shorter FTD, longer IOD, lower OFD/IOD, and FTD/IOD ratios (p < 0.05). In general, mean differences were small. Ultrasound variables alone predicted <10% of the variance in the FASD outcome. CONCLUSIONS: Some ultrasound measurements were associated with FASD, selected facial features of the disorder, and lower neurobehavioral scores. However, mean differences were relatively small, making it difficult to predict affected children based solely on these measures. It may be advantageous to combine these easily obtained ultrasound measures with other data to aid in identifying high risk for an FASD outcome.

Maternal Iodine Exposure: A Case of Fetal Goiter and Neonatal Hearing Loss.

A 27-year-old gravid 1 at 27 weeks 6 days with a history of hypothyroidism had an ultrasound that demonstrated a 3.9 × 3.2 × 3.3-cm well-circumscribed anterior neck mass, an extended fetal head, and polyhydramnios. Further characterization by magnetic resonance imaging (MRI) showed a fetal goiter. During her evaluation for the underlying cause of the fetal goiter, the patient revealed she was taking nutritional iodine supplements for treatment of her hypothyroidism. She was ingesting 62.5 times the recommended amount of daily iodine in pregnancy. The excessive iodine consumption caused suppression of the fetal thyroid hormone production, resulting in hypothyroidism and goiter formation. After the iodine supplement was discontinued, the fetal goiter decreased in size. At delivery, the airway was not compromised. The infant was found to have reversible hypothyroidism and bilateral hearing loss postnatally. This case illustrates the importance of examining for iatrogenic causes for fetal anomalies, especially in unregulated nutritional supplements.

Placental Sonolucencies in the First Trimester: Incidence and Clinical Significance.

OBJECTIVES: The aims of this study were to determine the incidence of placental sonolucencies on first-trimester screening sonograms in a general obstetric population and assess whether these findings are associated with adverse obstetric outcomes. METHODS: A retrospective cohort analysis of 201 pregnant patients screened at a high-risk prenatal diagnostic center was conducted with first-trimester cine clips reviewed by 2 radiologists. Placental sonolucencies were defined as intraplacental anechoic or heterogeneous areas 0.7 cm or greater. Obstetric and neonatal outcomes were collected by chart review. RESULTS: Placental sonolucencies 0.7 cm or greater were seen in 45 (22.4%) of first-trimester ultrasound examinations. The ultrasonographic presence of a placenta previa, marginal sinus, and subchorionic hemorrhage was not more common in those with placental sonolucencies 0.7 cm or greater (P > 0.05). Sonolucencies were not associated with prior cesarean deliveries (P > 0.05). Both the groups with and without sonolucencies 0.7 cm or greater had similar rates of antepartum hemorrhage, preeclampsia, preterm delivery, cesarean delivery, postpartum hemorrhage, and delivery of small-for-gestational-age infants. One placenta accreta and no fetal demises occurred in the study population. CONCLUSIONS: Placental sonolucencies detected on first-trimester screening sonograms in the general obstetric population are not predictive of poor obstetric outcomes.

Setting up a Nuchal Translucency Clinic: What Radiologists Need to Know.

The purpose of this article was to discuss the process of setting up a nuchal translucency (NT) screening clinic in clinical practice, how to interpret the information in combination with other clinical tests, what to do if abnormal results are obtained, and to illustrate some of the fetal anomalies that are associated with an increased NT. The NT was initially implemented to predict the likelihood of a fetus with Down syndrome. Maternal age can be combined with fetal NT and maternal serum biochemistry (free ß-hCG and PAPP-A) at 11 to 14 weeks to identify about 90% of affected fetuses. Setting up a clinic to perform the NT screening requires certified physicians and certified sonographers. Certification can be obtained for both physicians and sonographers through Nuchal Translucency Quality Review and Fetal Medicine Foundation. Cell-free DNA testing is now altering what our patients are choosing to evaluate fetuses at risk for chromosomal anomalies and congenital anomalies. Common pitfalls to performing, interpreting, and conveying results of the NT are illustrated in this article. Nasal bone measurement, fetal anatomy examination and fetal echocardiography are tools that add sensitivity to the detection of chromosomal abnormalities. Examples of fetal anomalies discovered during the NT screening are also illustrated. Screening for obstetric complications is an additional benefit to the NT clinic.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

OBJECTIVE: To estimate detection rates for aneuploidy by first-trimester and sequential screening. METHODS: The study included women with singleton pregnancies who participated in the California Prenatal Screening Program with estimated delivery dates from August 2009 to December 2012 who had first- or first- and second-trimester (sequential) screening. Detection rates were measured for target (trisomies 21 and 18) and other aneuploidies identified from the California Chromosome Defect Registry. RESULTS: Of 452,901 women screened, 17,435 (3.8%) were screen-positive for Down syndrome only; 433 (0.1%) for trisomy 18 only; 1,689 (0.4%) for both Down syndrome and trisomy 18; and 2,947 (0.7%) for neural tube defects, Smith-Lemli-Opitz syndrome, or for multiple conditions. The detection rates were Down syndrome-92.9% (95% confidence interval [CI] 91.4-94.2); trisomy 18-93.2% (95% CI 90.5-95.9); trisomy 13-80.4% (95% CI 73.9-86.9); 45,X-80.1% (95% CI 73.9-86.3), and triploidy-91.0% (95% CI 84.2-97.9). Overall, the detection rate for chromosome abnormalities was 81.6% (95% CI 80.0-83.1) at an overall false-positive rate of 4.5%. CONCLUSION: First-trimester and sequential screening are sensitive and specific for the broad range of karyotype abnormalities seen in the population. LEVEL OF EVIDENCE: II.

Effect of Depression on Risky Drinking and Response to a Screening, Brief Intervention, and Referral to Treatment Intervention.

We assessed alcohol consumption and depression in 234 American Indian/Alaska Native women (aged 18-45 years) in Southern California. Women were randomized to intervention or assessment alone and followed for 6 months (2011-2013). Depression was associated with risk factors for alcohol-exposed pregnancy (AEP). Both treatment groups reduced drinking (P < .001). Depressed, but not nondepressed, women reduced drinking in response to SBIRT above the reduction in response to assessment alone. Screening for depression may assist in allocating women to specific AEP prevention interventions.

Early Second Trimester Weight Gain in Obese Women Predicts Excessive Gestational Weight Gain in Pregnancy.

OBJECTIVE: To assess gestational weight gain (GWG) in obese women to determine an inflection point that identifies women at risk for excessive weight gain. STUDY DESIGN: This is an observational prospective cohort study of pregnancies managed through the UC San Diego Maternal Weight and Wellness Program from 2011 to 2014. The primary outcome was total gestational weight gain. GWG was categorized as inadequate (<11 pounds), adequate (11-20 pounds), and excessive (>20 pounds) based on Institute of Medicine (IOM) recommendations. Other outcomes were GWG by trimester and postpartum weight retention. Bivariate and multivariate analyses were used to assess factors associated with GWG. RESULTS: Ninety-five patients had a mean prepregnancy body mass index (BMI) of 41.9 ± 8.9 kg/m(2) and a net weight gain of 21.9 ± 19 pounds. First trimester GWG was -0.3 ± 4.9 pounds, second trimester was 10.4 ± 10.8 pounds, and third trimester was 11.4 ± 8.5 pounds for all participants. Women who exceeded IOM recommendations accelerated weight gain at 12-14 weeks and gained a majority of weight during the second trimester. Weight gain of more than two pounds at 12-14 weeks had a 96 % positive predictive value (95 % CI 79-99) for excessive GWG. Postpartum women with excessive GWG retained more weight than those with inadequate GWG (10.7 ± 15.6 pounds compared with -13.6 ± 10.9 pounds, P < 0.001). On multiple linear regression GWG by trimester was predictive of total GWG with second and third trimester GWG having the greatest effect on total GWG. Prepregnancy BMI and gestational diabetes were not predictors of total GWG. CONCLUSIONS: Obese women at risk for excessive GWG may be identified as early as 12-14 weeks and gain most weight during the second trimester. GWG less than 11 pounds resulted in significant postpartum weight loss among obese women.

Preventing alcohol-exposed pregnancy among an American Indian/Alaska Native population: effect of a screening, brief intervention, and referral to treatment intervention.

BACKGROUND: Fetal alcohol spectrum disorders are the result of alcohol-exposed pregnancies (AEP) and believed to be the leading known cause of developmental disabilities in the United States. Our objective was to determine whether a culturally targeted Screening, Brief Intervention, and Referral to Treatment (SBIRT) intervention may reduce risky drinking and vulnerability to AEP among American Indian/Alaska Native (AIAN) women in Southern California. METHODS: Southern California AIAN women of childbearing age who completed a survey including questions regarding alcohol consumption and contraceptive use were randomized into intervention or treatment as usual groups where the former group completed an online SBIRT intervention, and were followed up at 1, 3, and 6 months postintervention. RESULTS: Of 263 women recruited and 247 with follow-up data, one-third were at high risk of having an AEP at baseline. Both treatment groups decreased self-reported risky drinking behavior (drinks per week, p < 0.001; frequency of heavy episodic [binge] drinking episodes per 2 weeks, p = 0.017 and risk of AEP p < 0.001 at 6 months postintervention) in the follow-up period. There was no difference between treatment groups. Baseline factors associated with decreased risk of an AEP at follow-up included the perception that other women in their peer group consumed a greater number of drinks per week, having reported a greater number of binge episodes in the past 2 weeks, and depression/impaired functionality. CONCLUSIONS: Participation in assessment alone may have been sufficient to encourage behavioral change even without the web-based SBIRT intervention. Randomization to the SBIRT did not result in a significantly different change in risky drinking behaviors. The importance of perception of other women's drinking and one's own depression/functionality may have implications for future interventions.

Simplifying the ultrasound findings of the major fetal chromosomal aneuploidies.

Sonographic aneuploidy markers and structural anomalies associated with the 5 most common chromosomal aneuploidies are organized and simplified to highlight the many sonographic findings that are commonly seen with each aneuploidy. Identification of these findings allows families to have the option to pursue prenatal genetic testing to confirm or exclude chromosomal abnormalities suggested by such prenatal ultrasound findings and make informed decisions about the subsequent management of their pregnancy. We review the most common major human chromosomal aneuploidies, including trisomies 21, 18, and 13; Turner syndrome; and triploidy. The focus is on the major structural anomalies seen with each of these, as well as ultrasound markers (findings associated with increased risk of chromosomal abnormality but also seen in normal fetuses). The role of clinical information such as maternal serum screening and new cell-free fetal DNA screening is also reviewed. As patients do not usually present for fetal ultrasound with a known diagnosis, a concise knowledge of ultrasound and clinical findings will alert radiologists to concerning cases and prompt a guided search for important associated anomalies. Fetal ultrasound can be challenging owing to the many findings and sometimes technically difficult evaluation. By simplifying the ultrasound findings seen with the major chromosomal abnormalities and highlighting the role of clinical history, we hope that an informed search for specific sonographic findings can be performed; thereby, reducing missed diagnoses.

Two-dimensional sonographic cine imaging improves confidence in the initial evaluation of the fetal heart.

OBJECTIVES: Initial screening sonography of the fetal heart with static images is often inadequate, resulting in repeated imaging or failure to detect abnormalities. We hypothesized that the addition of short cine clips would reduce the need for repeated imaging. METHODS: Two-dimensional (2D) static sonograms and short 2D cine clips of the 4-chamber view and left and right ventricular outflow tracts were obtained from 342 patients with gestational ages of greater than 16 weeks. A diagnostic radiologist and a perinatologist retrospectively reviewed the static and cine images independently and graded them as normal, abnormal, or suboptimal. RESULTS: A statistically significant increase in the number of structures called normal was seen when 2D cine clips were added to static imaging for both observers (P < .05); the radiologist called 86.5% normal with combined static and cine images versus 61.9% with static images alone, whereas the perinatologist recorded 68.1% as normal versus 58.8%, respectively. The radiologist called 77.8% of structures normal with cine images only versus 61.9% with static images only (P < .001), whereas the perinatologist called fewer structures normal with cine images alone (38.9%) versus static images alone (58.8%). The use of cine loops alone resulted in no significant increase in the ability to clear the heart as normal. The maternal body mass index was inversely associated with the ability to clear structures when 2D cine images were added to static images (P < .05). CONCLUSIONS: The addition of 2D cine clips to standard 2D static imaging of the fetal heart significantly improves the number of structures cleared as normal. Two-dimensional cine clips are easily obtained, add little time to a study, and require minimal archival space.

Fictional father?: Oliver Sacks and the revalidation of pathography.

This paper is a revalidation of Oliver Sacks's role in the development of medicine's narrative turn and, as such, a reinterpretation of the history of narrative in medicine. It suggests that, from the late 1960s, Sacks pioneered in his 'Romantic Science' a new medical mode that reunited the seemingly incommensurable art and science of medicine while also offering a way for medical humanities to shape clinical reasoning more effectively.

Identifying sonographic markers for placenta accreta in the first trimester.

Our study attempted to identify whether sonographic markers for placenta accreta may be present as early as the first trimester. We reviewed 10 cases with pathologically proven accreta and retrospectively analyzed their first-trimester images. The gestational ages ranged from 8 weeks 4 days to 14 weeks 2 days. Sonographic findings included anechoic placental areas (9 of 10), low implantation of the gestational sac (9 of 10), an irregular placental-myometrial interface (9 of 10), and placenta previa (7 of 10). Nine patients had at least 1 prior cesarean delivery; 3 had additional uterine surgical procedures. One patient underwent hysteroscopic myomectomy. Our case series suggests that signs of placenta accreta may be present in the first trimester.

Preoperative intravascular balloon catheters and surgical outcomes in pregnancies complicated by placenta accreta: a management paradox.

OBJECTIVE: The objective of the study was to compare outcomes between patients who did and did not receive preoperative uterine artery balloon catheters in the setting placenta accreta. STUDY DESIGN: This was a retrospective case-control study of patients with placenta accreta from 1990 to 2011. RESULTS: Records from 117 patients with pathology-proven accreta were reviewed. Fifty-nine patients (50.4%) had uterine artery balloons (UABs) placed preoperatively. The mean estimated blood loss (EBL) was lower (2165 mL vs 2837 mL; P = .02) for the group that had UABs compared with the group that did not. There were more cases with an EBL greater than 2500 mL and massive transfusions of packed red blood cells (>6 units) in the group that did not have UABs. Percreta was diagnosed more often on final pathology in the group with UABs. Surgical times did not differ between the 2 groups. Two patients (3.3%) had complications related to the UABs. CONCLUSION: Preoperative placement of UABs is relatively safe and is associated with a reduced EBL and fewer massive transfusions compared with a group without UABs.

Multiple repeat cesareans and the threat of placenta accreta: incidence, diagnosis, management.

Placenta accreta is a significant source of obstetric morbidity and mortality. Its incidence is increasing as a direct consequence of the increasing cesarean section rate, which reflects increased rates of maternal obesity, increased numbers of multiple gestations secondary to assisted reproductive technology, physician concern about litigation for adverse obstetric outcome, and a decline in the use of operative vaginal delivery for both cephalic and breech presentations. Optimum management for most cases requires elective cesarean hysterectomy, ideally performed at about 34 weeks' gestation. A multidisciplinary approach produces the best outcomes.