Obstetric and gynecologic ultrasound curriculum and competency assessment in residency training programs: consensus report.

Ultrasound imaging has become integral to the practice of obstetrics and gynecology. With increasing educational demands and limited hours in residency programs, dedicated time for training and achieving competency in ultrasound has diminished substantially. The American Institute of Ultrasound in Medicine assembled a multi-Society Task Force to develop a consensus-based, standardized curriculum and competency assessment tools for obstetric and gynecologic ultrasound training in residency programs. The curriculum and competency-assessment tools were developed based on existing national and international guidelines for the performance of obstetric and gynecologic ultrasound examinations and thus are intended to represent the minimum requirement for such training. By expert consensus, the curriculum was developed for each year of training, criteria for each competency assessment image were generated, the pass score was established at or close to 75% for each, and obtaining a set of five ultrasound images with pass score in each was deemed necessary for attaining each competency. Given the current lack of substantial data on competency assessment in ultrasound training, the Task Force expects that the criteria set forth in this document will evolve with time. The Task Force also encourages use of ultrasound simulation in residency training and expects that simulation will play a significant part in the curriculum and the competency-assessment process. Incorporating this training curriculum and the competency-assessment tools may promote consistency in training and competency assessment, thus enhancing the performance and diagnostic accuracy of ultrasound examination in obstetrics and gynecology. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Differentiation of genetic abnormalities in early pregnancy loss.

OBJECTIVE: To characterize the types of genetic abnormalities and their prevalence in early pregnancy loss at different developmental stages. We hypothesized that the prevalence of genetic abnormalities in pregnancy loss would differ across developmental stages. METHODS: Women with a pregnancy loss at < 20 weeks' gestation (n = 86) were enrolled at the time of diagnosis. Maternal tissue without a fetal component was found in 13 samples. Chromosomal microarray analysis (CMA) was performed on 74 samples (including two samples from a twin pregnancy); 15 were pre-embryonic (no visible embryo on ultrasound examination), 31 were embryonic (embryo; 6 + 0 to 9 + 6 weeks' gestation) and 28 were fetal (fetus; 10 + 0 to 19 + 6 weeks' gestation) losses. The twin pregnancy was found to be monochorionic diamniotic and was subsequently treated as a single sample in our analysis. Nine samples that underwent CMA were excluded from analysis because of 100% maternal-cell contamination. RESULTS: The overall prevalence of genetic abnormalities differed across developmental stages (9.1% pre-embryonic, 69.2% embryonic and 33.3% fetal; P < 0.01). This difference persisted when comparing pre-embryonic with embryonic samples (P < 0.01) and embryonic with fetal samples (P = 0.02) but not pre-embryonic with fetal samples (P = 0.12). Additionally, the prevalence of aneuploidy differed significantly across developmental stages (0.0% in pre-embryonic samples vs 65.4% in embryonic samples vs 25.9% in fetal samples, P < 0.001). Abnormalities were most common in embryonic cases, followed by fetal and then pre-embryonic. Maternal cell contamination (MCC) was noted in 47.4% of 46,XX cases assessed. CONCLUSIONS: Genetic abnormalities detected by CMA are more likely to occur in the embryonic period than in pre-embryonic or fetal stages. MCC is common in early pregnancy loss and should be excluded when results demonstrate a 46,XX karyotype.

Discordant amniotic band sequence in monozygotic twins.

Multiple congenital anomalies were identified at 16 weeks gestation in one fetus of an unsuspected twin pregnancy while ultrasound examination was performed before routine genetic amniocentesis. Further sonographic studies documented the amniotic band sequence (ABS) and transient oligohydramnios in the affected fetus. The latter finding supports the theory of amnion rupture followed by amniotic fluid leakage through an ineffective chorion barrier as the pathogenesis of compression related anomalies in this syndrome. Extensive craniofacial involvement including hydrocephalus, encephalocele, and multiple facial clefts in the affected fetus, combined with an erroneous ultrasound diagnosis of ABS in the unaffected twin, created an extremely difficult management and counseling situation. A review of ABS, the embryology of placental membrane development, and a discussion of selective termination procedures are presented.

Interstitial deletion of 4(q21q25) in a liveborn male.

We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia. The child's eye findings, pedigree, paucity of maternal ocular changes, and lack of melanin macroglobules in the skin suggest that this individual's phenotype is clinically similar to that of autosomal recessive ocular albinism. Though it is possible that this deletion and his ophthalmic disorder are coincidental, we postulate that the ocular albinism may be due to hemizygosity for a paternally derived ocular albinism gene located on chromosome 6 in the region q13-q15. This patient's deletion is secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. Of the 7 reported 6q1 deletions, this is the only case that is due to a familial chromosome rearrangement.

Kasabach-Merritt coagulopathy complicating Klippel-Trenaunay-Weber syndrome in pregnancy.

BACKGROUND: Klippel-Trenaunay-Weber syndrome is a sporadic genetic syndrome characterized by localized hemangiomas, venous varicosities, and asymmetric osseous hypertrophy of the ipsilateral extremities. Most commonly seen in association with hemangiomas, Kasabach-Merritt syndrome is defined by the presence of thrombocytopenia and a consumptive coagulopathy. CASE: A 22-year-old primigravida with a prior diagnosis of Klippel-Trenaunay-Weber syndrome presented for genetic counseling and delivery management at 37 weeks' gestation. Large varicosities of the vulva required cesarean delivery. Multiple hemangiomas in the right lower quadrant of the abdomen necessitated the use of a left paramedian cutaneous incision. The patient subsequently developed Kasabach-Merritt syndrome and required the transfusion of blood products as well as heparin and aminocaproic acid therapy for her postoperative management. CONCLUSION: Klippel-Trenaunay-Weber syndrome in pregnancy is rare. The potential for a refractory coagulopathy presenting as Kasabach-Merritt syndrome should be considered in any patient who presents with extensive hemangiomas.

The seroprevalence of the rubeola antibody in a prenatal screening program.

OBJECTIVE: To evaluate the seroprevalence of the rubeola (measles) antibody in several obstetric populations. METHODS: In this cross-sectional study, women presenting for prenatal care underwent measurement of antibodies to the rubeola virus. The study population presented for care at either an urban medical center (group I) or a suburban medical center (group II). These groups were divided further into those receiving care in a resident-supervised clinic (A) and those in a private-practice setting (B). RESULTS: A total of 768 women were tested. Seventy-five (9.8%) women had rubeola antibody titers less than or equal to 0.13 and were classified as seronegative. The lowest percentage of seronegative women (3.2%) was found at the urban resident-supervised clinic site. The highest percentage of seronegative women (20.5%) was found in the suburban resident-supervised clinic site. Women classified as seronegative were younger, with a mean age of 25.0 years. No significant difference was observed based on gravidity, parity, or care received in an urban versus suburban private-practice setting. CONCLUSION: We suggest that an appreciable number of women presenting for prenatal care may lack antibodies to the rubeola virus. In the interest of personal and public health, populations believed to be at risk may benefit from ongoing surveillance of immune status and appropriate vaccination. Additional study is necessary to define best those groups that would benefit from surveillance and vaccination.

Self-rated physical activity level during the second trimester and pregnancy outcome.

To examine the relationship between level of physical activity during pregnancy and subsequent pregnancy outcome, we asked women enrolling for maternal serum alpha-fetoprotein (MSAFP) screening in Maine during the years 1984-1988 to rate their usual physical activity level as light, moderate, or vigorous. Overall, 23,091 women were approached and 21,342 (92%) responded. Ten percent rated their physical activity level as light, 84% as moderate, and 6% as vigorous. Those who identified their physical activity level as vigorous were, on average, slightly older and more educated, and weighted less than women in the other two categories. However, there were no significant differences in the rates of low birth weight or fetal or neonatal death.

Periconceptional folic acid supplementation as a social intervention.

Periconceptional folic acid supplementation has been shown to decrease the first occurrence of isolated neural tube defects (NTDs) by as much as 50%, and to decrease the recurrence risk for NTDs by more than 70%. The possible mechanisms of vitamin supplementation in the prevention of NTDs are discussed, as are the current recommendations for reproductive-age women. Further, the limitations of dietary and pharmacological recommendations with regard to patient compliance as well as the possibility of grain fortification are reviewed.

Tuberculosis: current implications and management in obstetrics.

After years of decline, tuberculosis has again emerged as a serious public health issue. Following the introduction of effective chemotherapy at mid-century, cases of tuberculosis decreased until 1986. Since that time, the number of cases of tuberculosis have dramatically increased, particularly among young persons. The reemergence of tuberculosis is localized to urban areas and is linked to the increase in the incidence of human immunodeficiency virus infection and drug resistance. Since pregnant women are at risk for tubercular infection, an effective method exists to identify women who are asymptomatically infected, provide them with treatment to prevent progression of disease, and investigate their contacts. This review will discuss the issues of diagnosis and treatment of asymptomatic infection and active tuberculosis in pregnant women. Additionally, the need for universal screening of all prenatal patients and the benefit and potential perinatal toxicity of chemotherapy in both immunocompetent patients and those infected with human immunodeficiency virus will be addressed.

The single ventricle heart in the fetus: accuracy of prenatal diagnosis and outcome.

OBJECTIVES: The purpose of this study was to determine the diagnostic accuracy of fetal echocardiography in evaluating anatomic details of the single ventricle heart and the outcome of fetuses diagnosed with this anomaly. STUDY DESIGN: This is a retrospective study of 57 fetuses in which the results of fetal echocardiography were compared with the diagnoses at postnatal echocardiography, and postnatal surgical outcome was reviewed. RESULTS: Diagnostic accuracy was present in predicting morphology of the predominant ventricle, visceral situs, presence of pulmonary or aortic outflow tract obstruction, and presence of obstructed pulmonary venous outflow (sensitivity 100%). However, the ability to predict for a ductal dependent pulmonary circulation was poor (sensitivity 63%). Errors were made in the fetal assessment of ventricular size and viability such that in three cases, postnatal plans were altered toward a two-ventricular intervention. Of the 57 fetuses, intervention was elected in 37 (75%). Termination or nonintervention was elected in 14, and and 6 died before intervention. Of those operated on, 71% are presently alive after various stages of intervention. CONCLUSIONS: Accurate diagnosis of the fetal single ventricle heart is possible, and outcome is improving. Caution must be used in judging ventricular size and in predicting ductal dependent pulmonary circulation.

Diagnosis and management of fetal nuchal translucency.

Fetal nuchal translucency can be measured in most pregnant women in the first and early second trimester. The size of translucency varies slightly with gestational age and crown rump length and is independent of maternal age. Most authors have used a nuchal thickness of > or = 2.5 mm or > or = 3 mm to define abnormal, although some have suggested that the normal variation with gestation requires that different thresholds be used at different gestational ages. The accuracy of nuchal translucency measurement varies between examiners and between patients, likely in relation to examiner skill and image resolution. The small size of a nuchal translucency, less than 3 mm in most cases, probably approximates the threshold of normal interexaminer and intraexaminer variability. The presence of a thickened nuchal translucency is associated with chromosomal abnormality and perhaps with structural abnormality even when the karyotype is normal. Because of the reported variations in the populations studied, the methods used, and the results of screening, it is inappropriate at this time to assign a numeric risk to any individual patient with this finding. However, in both high-risk and low-risk groups, the positive predictive value appears to be high enough that patients with increased nuchal translucency should be counseled by their obstetrician and prenatal diagnostic testing should be offered. Because early genetic diagnosis by CVS has a substantially higher procedure-associated loss rate than amniocentesis in the second trimester, many patients may elect to wait for chromosomal testing. If so, disappearance of nuchal thickening should not be taken as reassurance. As a screening test to be widely applied to a general or low-risk population, the utility of fetal nuchal translucency measurement is uncertain. The reported sensitivity for identification of trisomy 21 has ranged from about 40% to 80%, and the sensitivity for identification of other aneuploidies may be lower than for Down's syndrome. From a cost-risk-benefit standpoint, universal first-trimester ultrasound screening has not been appropriately compared with standard risk assessment using maternal age and multiple-marker serum screening, with amniocentesis as the predominant diagnostic method. Also, the issues of availability and reimbursement have not been addressed. Currently, measurement of nuchal translucency is not a substitute for the standard of obstetrical care, which is to offer multiple-marker serum screening to every pregnant woman at 15 to 20 weeks. Similarly, it is inappropriate to substitute nuchal translucency measurement for genetic counseling and CVS or amniocentesis in women above 35 years of age or those with a significant positive history. Finally, the data are not clear as to whether a normal nuchal translucency decreases the likelihood of chromosomal abnormality in a high-risk population, and such women should not be discouraged from invasive testing because of a normal first-trimester ultrasound study. The data supporting the association between thickened nuchal transluency and chromosomal abnormality are compelling, but further study is needed before adopting routine nuchal translucency screening. Combining first-trimester ultrasonography with early serum screening is currently being investigated and may ultimately prove to be the most efficient means of screening for chromosomal anomaly.

Maternal serum screening for neural tube defects and fetal chromosome abnormalities.

Second-trimester maternal serum screening is a noninvasive means of identifying pregnant women at an increased risk for various conditions including a fetus with open spina bifida, fetal Down syndrome, trisomy 18, multiple gestation, and adverse pregnancy outcome. Combinations of several different markers are available for screening. These include alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. In this review, we discuss the benefits and limitations of the screening tests and the suggested protocols for the care of patients.

Prenatal characteristics of congenital nephrosis: results of a survey.

The purpose of this study was to evaluate the prenatal characteristics of congenital nephrosis of the Finnish type (CNF). Patients presenting with elevated maternal serum and/or amniotic fluid alpha-fetoprotein levels, normal ultrasound examinations and normal fetal karyotypes were included. A retrospective cohort study was conducted using questionnaires sent to all board certified clinical geneticists. Perinatal outcome, including histologic verification of CNF, was obtained. Forty index cases met the above criteria. Ten cases ultimately did not have the diagnosis of CNF, with a median MSAFP level of 7.59 MoM (range 2.7-27.64 MoM) and a median AFAFP level of 10.99 MoM (range 1.47-128.6 MoM). In the affected cohort of index pregnancies, the initial median MSAFP level was 14.49 MoM (range 3.1-38.0 MoM); the median AFAFP level was 40.0 MoM (range 2.4-80.9). MSAFP and AFAFP levels may be lower than previously recognized in patients carrying fetuses with CNF. There is significant overlap between the affected and unaffected patients.

Prenatal diagnosis of a chest wall hamartoma and sternal cleft.

We present the prenatal evaluation and diagnosis of a disorganized chest wall hamartoma with underlying sternal cleft in a family with a prior offspring with the VATER association. The possibility that these conditions are linked to mesodermal defects with a common pathogenic etiology is suggested.

Prenatal analysis of rhesus CcDEe blood groups by heteroduplex generator.

OBJECTIVE: Our purpose was to determine the efficacy of the heteroduplex generator in the prenatal analysis of rhesus CcDEe blood groups. STUDY DESIGN: A cross-sectional study was performed evaluating fetal samples from 85 women undergoing prenatal diagnosis and comparing the results with standard immunologic serotyping on cord blood delivery. RESULTS: Of the 85 samples, 64 were tested, for all CcDEe alleles: one case was discrepant. Twenty-one cases were tested solely for the D antigen. Two novel genotypes were detected in the population by heteroduplex generator and confirmed by deoxyribonucleic acid sequencing. Five cases were indeterminate because of an indistinct banding pattern. CONCLUSIONS: Heteroduplex analysis can identify rhesus blood group alleles and is inexpensive, rapid, and does not use radioactive isotopes.

Heteroduplex generator in analysis of Rh blood group alleles.

We describe the use of heteroduplex analysis to enhance the resolution of different rhesus-derived (Rh) isotypes. Heteroduplex analysis of different domains of the Rh D and Rh CE loci can be performed to diagnose a variety of blood group incompatibilities. One application of this technique is the ability to test for fetal-maternal blood group incompatibilities during pregnancy. Several new serotype-specific sequence variations were discovered in the mapping of the Rh locus, and used in the construction of artificial heteroduplex generators (HGs). HGs facilitate the resolution of the Rh isotypes by electrophoretic methods.

Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.

A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.

Maternal serum alpha-fetoprotein screening for chromosomal abnormalities: a prospective study in women aged 35 and older.

OBJECTIVE: Our purpose was to determine the detection and false-positive rates for maternal serum alpha-fetoprotein measurement to screen for fetal Down syndrome and other chromosomal abnormalities in women > or = 35 years old. STUDY DESIGN: A total of 3896 women had serum maternal serum alpha-fetoprotein levels measured routinely before amniocentesis for the indication of advanced maternal age. RESULTS: Eighty-five percent (28/33) of fetal Down syndrome pregnancies had second-trimester risks of > or = 1:270 on the basis of a combination of maternal serum alpha-fetoprotein measurement and maternal age. Risks were also > or = 1:270 in 63% of the unaffected pregnancies. Sex chromosome aneuploidies, translocations, and other nonautosomal chromosome abnormalities in this study population were not associated with altered maternal serum alpha-fetoprotein levels; 51.9% (14/27) of these, however, were also assigned risks of > or = 1:270. CONCLUSIONS: Maternal serum alpha-fetoprotein screening is more accurate than age alone for assigning individual Down syndrome risk in pregnant women > or = 35 years old. Counseling for women in this age group should include information regarding the lower sensitivity of maternal serum alpha-fetoprotein screening for detecting fetal Down syndrome and other chromosomal abnormalities (especially sex chromosome aneuploidies) compared with offering amniocentesis to these women.