Universal Urine Drug Screening with Rapid Confirmation upon Admission to Labor and Delivery.

OBJECTIVE: This study aimed to describe our experience with universal urine drug screening (UDS) with rapid confirmation (RC) via liquid chromatography mass spectrometry (LC-MS) before infant's discharge, in efforts to increase detection of neonates at risk of neonatal opioid withdrawal syndrome (NOWS) while reducing patient burden related to false positive results. STUDY DESIGN: Two-phase retrospective study of all pregnant women admitted to our labor and delivery (L&D) unit before (phase 1, April 2018-March 2019) and after (phase 2, October 2019-September 2020) RC of UDS was initiated. Urine samples were obtained on admission and screened for drugs using an enzyme immunoassay with positive results reflexed to confirmation via LC-MS. The turnaround time for LC-MS was 1 week in phase 1 and 24 hours in phase 2. For mothers with positive LC-MS confirmation, the infant's meconium was sent for drug screening. Positive results were determined to be true or false positive based on urinary LC-MS results. The primary outcome was the rate of opioid-positive mothers who were unanticipated. The secondary outcome was the difference in rate of neonates who were observed for NOWS, before and after implementation of RC with LC-MS. RESULTS: In phase 2, a total of 2,395 deliveries occurred of which 2,122 (88.6%) had available UDS results. Fifty-two (2.5%) women had a positive UDS for at least one drug with LC-MS confirmation. Of those, 25 were true positive and 27 were false positive. Twenty-one (84%) true positive mothers were taking opioids and 8 (37%) of them were unanticipated positives. Among mothers with positive UDS for opioids, the neonatal observation rate for development of NOWS was 100% (22/22) and 48% (21/44) before and after implementation of LC-MS RC, respectively. CONCLUSION: Universal UDS and LC-MS RC in L&D may improve detection of unanticipated positive mothers whose infants are at risk of NOWS. RC of positive results allows intervention only for confirmed cases. KEY POINTS: · Universal UDS can detect more infants at risk of NOWS.. · Rapid confirmation of positive UDS reduces burden.. · Only confirmed infants should be observed in the neonatal intensive care unit.. · Child Protective Services should only be notified of confirmed opioid-positive results..

Use, misuse, and overuse of antenatal corticosteroids. A retrospective cohort study.

OBJECTIVES: To evaluate the timing of antenatal corticosteroids (ACS) administration in relation to the delivery timing based on indications and risk factors for preterm delivery. METHODS: We conducted a retrospective cohort study to understand what factors predict the optimal timing of ACS administration (ACS administration within seven days). We reviewed consecutive charts of adult pregnant women receiving ACS from January 1, 2011, to December 31, 2019. We excluded pregnancies under 23 weeks, incomplete and duplicate records, and patients delivered outside our health system. The timing of ACS administration was categorized as optimal or suboptimal. These groups were analyzed regarding demographics, indications for ACS administration, risk factors for preterm delivery, and signs and symptoms of preterm labor. RESULTS: We identified 25,776 deliveries. ACS were administered to 531 pregnancies, of which 478 met the inclusion criteria. Of the 478 pregnancies included in the study, 266 (55.6 %) were delivered in the optimal timeframe. There was a higher proportion of patients receiving ACS for the indication of threatened preterm labor in the suboptimal group as compared to the optimal group (85.4 % vs. 63.5 %, p<0.001). In addition, patients who delivered in the suboptimal timeframe had a higher proportion of short cervix (33 % vs. 6.4 %, p<0.001) and positive fetal fibronectin (19.8 % vs. 1.1 %, p<0.001) compared to those who delivered in the optimal timeframe. CONCLUSIONS: More emphasis should be placed on the judicious use of ACS. Emphasis should be placed on clinical assessment rather than relying solely on imaging and laboratory tests. Re-appraisal of institutional practices and thoughtful ACS administration based on the risk-benefit ratio is warranted.

The Risk of Readmission after Early Postpartum Discharge during the COVID-19 Pandemic.

OBJECTIVE: To determine whether early postpartum discharge during the coronavirus disease 2019 (COVID-19) pandemic was associated with a change in the odds of maternal postpartum readmissions. STUDY DESIGN: This is a retrospective analysis of uncomplicated postpartum low-risk women in seven obstetrical units within a large New York health system. We compared the rate of postpartum readmissions within 6 weeks of delivery between two groups: low-risk women who had early postpartum discharge as part of our protocol during the COVID-19 pandemic (April 1-June 15, 2020) and similar low-risk patients with routine postpartum discharge from the same study centers 1 year prior. Statistical analysis included the use of Wilcoxon's rank-sum and chi-squared tests, Nelson-Aalen cumulative hazard curves, and multivariate logistic regression. RESULTS: Of the 8,206 patients included, 4,038 (49.2%) were patients who had early postpartum discharge during the COVID-19 pandemic and 4,168 (50.8%) were patients with routine postpartum discharge prior to the COVID-19 pandemic. The rates of postpartum readmissions after vaginal delivery (1.0 vs. 0.9%; adjusted odds ratio [OR]: 0.75, 95% confidence interval [CI]: 0.39-1.45) and cesarean delivery (1.5 vs. 1.9%; adjusted OR: 0.65, 95% CI: 0.29-1.45) were similar between the two groups. Demographic risk factors for postpartum readmission included Medicaid insurance and obesity. CONCLUSION: Early postpartum discharge during the COVID-19 pandemic was associated with no change in the odds of maternal postpartum readmissions after low-risk vaginal or cesarean deliveries. Early postpartum discharge for low-risk patients to shorten hospital length of stay should be considered in the face of public health crises. KEY POINTS: · Early postpartum discharge was not associated with an increase in odds of hospital readmissions after vaginal delivery.. · Early postpartum discharge was not associated with an increase in odds of hospital readmissions after cesarean delivery.. · Early postpartum discharge for low-risk patients should be considered during a public health crisis..

Obstetricians' views on the ethics of cardiac surgery for newborns with common aneuploidies.

OBJECTIVE: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries. STUDY DESIGN: A survey was e-mailed to 2897 OB-GYNs, and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, and 13 and Turner syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13. Chi-square tests were utilized to compare responses by using an alpha level of .05. RESULTS: Most obstetricians thought that offering cardiac surgery was ethical if the baby had trisomy 21 or Turner syndrome (94%), but not trisomy 18 or 13 (75%). Most obstetricians (69%) thought that insurance companies should not be legally required to pay for cardiac surgery for the latter group. CONCLUSION: Obstetricians were more likely to think cardiac surgery was ethical if the prognosis or the outcome was good. Most respondents did not think that insurance companies should be required to subsidize the cost of cardiac surgeries for all babies with trisomy 18 or 13.

Tension compared to no tension on a Foley transcervical catheter for cervical ripening: a randomized controlled trial.

BACKGROUND: Cervical ripening of an unfavorable cervix can be achieved by placement of a transcervical catheter. Advantages of this method include both lower cost and lower risk of tachysystole than other methods. Despite widespread use with varying degrees of applied tension, an unanswered question is whether there is an advantage to placing the transcervical catheter to tension compared with placement without tension. OBJECTIVE: The purpose of this study was to determine whether tension placed on a transcervical balloon catheter that is inserted for cervical ripening results in a faster time to delivery. STUDY DESIGN: This was a prospective, randomized controlled trial; 140 women who underwent cervical ripening (Bishop score, ≤6) were assigned randomly to a balloon catheter with applied tension vs no tension. Tension was created when the catheter was taped to the patient's thigh and tension was reapplied in 30-minute increments. There were 67 patients in the tension group and 73 patients in the no tension group. Low-dose oxytocin (maximum, 6 mU/min) was administered after catheter placement. The primary outcome was time from catheter insertion to delivery. A secondary outcome was time from insertion to catheter expulsion. The Kolmogorov-Smirnov test was used to determine whether the data were distributed normally. Survival curves that used lifetables were constructed from time of catheter insertion to delivery and from time of catheter insertion to catheter expulsion and were compared with the use of the Wilcoxon (Gehan) Breslow statistic. A probability value of <.05 was set to denote statistical significance. RESULTS: Baseline characteristics were similar between groups. The median time from catheter insertion to delivery was not significantly different between the tension group and the no tension group (16.2 vs 16.9 hours; P=.814). The median time from catheter insertion to expulsion, however, was significantly less in the tension group vs the no tension group (2.6 vs 4.6 hours; P<.001), respectively. Vaginal delivery within 24 hours was not significantly different between the tension and no tension groups (41/52 [79%] vs 37/52 [71%]; P=.365) nor were there significant differences in cesarean delivery rates between the tension and no tension groups (17/67 [25%] vs 27/73 [37%]; P=.139). CONCLUSION: Application of tension did not result in faster delivery times but did result in faster times to catheter expulsion.

Standard External Doppler Fetal Heart Tracings versus External Fetal Electrocardiogram in Very Preterm Gestation: A Pilot Study.

Introduction Very preterm babies can be difficult to monitor using standard external Doppler fetal heart tracings (eFHR). External fetal electrocardiogram (fECG) is a potential alternative. Methods This was a prospective observational pilot study of hospitalized patients at 24 to 28 weeks' gestation. A total of 30 women were traced for up to 2 hours using eFHR followed by up to 2 hours using fECG. The percentage of time the fetal heart rate was traced during the 2-hour window for each modality was calculated. Differences of ≥ 60, ≥ 80, and ≥ 90% total time traced were compared between modalities using McNemar's test. Differences were also assessed for each method between nonobese (body mass index [BMI] < 30 kg/m2) and obese (BMI ≥ 30 kg/m2) women using chi-square and Fisher's exact tests. Results Superior performance was found with eFHR at ≥ 60% (93.3 vs. 46.7%, p < 0.001), ≥ 80% (80.0 vs. 30.0%, p < 0.001), and ≥ 90% (60.0 vs. 23.3%, p < 0.01) total time traced. There was a statistically significant finding favoring nonobese women at ≥ 80% total time traced using fECG (7.1 vs. 50.0%, p = 0.017). Conclusion With current technology fECG performance in very preterm gestation was worse than conventional eFHR, although fECG may have a role in nonobese patients.

Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing.

OBJECTIVE: A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, such as mild ventriculomegaly. In this study we compared risk perception following uncertain test results from each modality. METHODS: A single survey with repeated measures design was administered to 133 pregnant women. It included 'intolerance of uncertainty' questions, two hypothetical scenarios involving prenatal ultrasound or advanced genetic testing, and response questions. The primary outcome was risk perception score. RESULTS: Risk perception did not vary significantly between ultrasound and genetic scenarios (p = 0.17). The genetic scenario scored a higher accuracy (p = 0.04) but lower sense of empowerment (p = 0.01). Furthermore, patients were more likely to seek additional testing after an ultrasound than after genetic testing (p = 0.05). There were no differences in other secondary outcomes including perception of life-altering consequences and hypothetical worry, anxiety, confusion, or medical care decisions. CONCLUSIONS: Our data suggest that uncertain findings on prenatal genetic testing do not elicit a higher perception of risk or anxiety when compared to ultrasound findings of comparable uncertainty. © 2015 John Wiley & Sons, Ltd.

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

OBJECTIVE: The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L (C6orf221) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM. METHOD: We recruited 16 women with suspected recurrent and sporadic AnCHM and five women with suspected BiHM in addition to their reproductive partners into our study. We then sequenced the coding exons of NLRP7 and KHDC3L from DNA isolated from either blood or saliva from the study subjects. RESULTS: Sequence analysis of NLRP7 and KHDC3L revealed previously described single nucleotide polymorphisms in patients with AnCHM. However, in patients with BiHM, we identified a novel homozygous mutation and a previously described intragenic duplication of exons 2 to 5 in NLRP7, both of which are likely to be disease causing. We did not identify mutations in KHDC3L in patients with either form of hydatidiform moles. CONCLUSIONS: The absence of mutations in women with AnCHM supports a role for NLRP7 or KHDC3L in BiHM only. The absence of mutations in KHDC3L in women with BiHM is consistent with its minor role in this disease compared with NLRP7, the major BiHM gene.

Perinatal survival of a fetus with intestinal volvulus and intussusception: a case report and review of the literature.

Fetal intestinal volvulus is a rare life-threatening condition. Late diagnosis of volvulus contributes to high rate of morbidity and mortality. It has variable degrees of presentation and survival. Intrauterine volvulus may be complicated by intestinal atresia due to ischemic necrosis. To our knowledge, there are three reported cases of term fetal demise. We report a case of fetal intestinal volvulus with perinatal survival of the largest term infant described with this complication to date. The volvulus was associated with type 3A jejunal atresia and intestinal pathology was noted on prenatal ultrasound. The infant was born via urgent cesarean delivery at 37(6/7) weeks of gestation and underwent emergent exploratory laparotomy with resection of small bowel and primary end-to-end anastomosis. Intrauterine intestinal volvulus may be suspected on prenatal ultrasound but only definitively diagnosed postnatally. Signs of fetal distress and volvulus are rarely associated with reports of survival in the term fetus. We review reported cases of prenatally suspected volvulus in infants documented to survive past the neonatal period. As fetal volvulus and most intestinal atresias/stenoses manifest during the third trimester, we recommend that the limited fetal anatomical survey during growth ultrasounds at 32 to 36 weeks routinely include an assessment of the fetal bowel.

Ophthalmologic findings in Aicardi syndrome.

BACKGROUND: Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome. METHODS: A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. RESULTS: The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). CONCLUSIONS: Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

Copy-number changes in prenatal diagnosis.

Until recently, the prenatal detection of genetic disease was available to only a subset of the pregnant population deemed to be at an increased risk for chromosomal abnormalities or, more rarely, other genetic disorders, based on family history, multiple-marker screening or ultrasound findings. Guided by recent data that indicate that screening for Down syndrome has improved and that risks of invasive procedures are smaller than previously ascertained, the American College of Obstetricians and Gynecologists has recommended that all women have access to invasive prenatal diagnosis. The parallel development of newer genetic diagnostic technologies, such as chromosomal microarray analysis, has made it feasible to simultaneously test for more conditions than was possible with standard karyotype analysis complemented by targeted fluorescence in situ hybridization or mutation detection for specific conditions. In the pediatric and adult population, chromosomal microarray analysis has already been thoroughly evaluated and is now recommended as a first-line diagnostic test for clinically suspected genetic disorders. In this article, we review the current status of array-based comparative genomic hybridization use for prenatal diagnosis and predict that, in the future, it will replace karyotyping as a first-line test for detecting chromosomal abnormalities in the prenatal setting.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.

The phenotype of recurrent 10q22q23 deletions and duplications.

The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have unique breakpoints. Most of the individuals with the LCR3-4 deletion had developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia were observed. For congenital breast aplasia, the NRG3 gene, known to be involved in early mammary gland development in mice, is a putative candidate gene. For cardiac defects, BMPR1A and GRID1 are putative candidate genes because of their association with cardiac structure and function. Duplications between LCRs3 and 4 are associated with variable phenotypic penetrance. Probands had speech and/or motor delays and dysmorphisms including a broad forehead, deep-set eyes, upslanting palpebral fissures, a smooth philtrum and a thin upper lip. In conclusion, duplications between LCRs3 and 4 on 10q22.3q23.2 may lead to a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members of a proband. Reciprocal deletions lead to speech and language delay, mild facial dysmorphisms and, in some individuals, to cerebellar, breast developmental and cardiac defects.

Applications of array comparative genomic hybridization in obstetrics.

Current prenatal cytogenetic diagnosis uses mostly G-banded karyotyping of fetal cells from chorionic villi or amniotic fluid cultures, which readily detects any aneuploidy and larger structural genomic rearrangements that are more than 4 to 5 megabases in size. Fluorescence in situ hybridization (FISH) is also used for rapid detection of the common aneuploidies seen in liveborns. If there is prior knowledge that increases risk for a specific deletion or duplication syndrome, FISH with a probe specific for the region in question is done. Over the past decade, array-based comparative genomic hybridization (aCGH) has been developed, which can survey the entire genome for submicroscopic microdeletions and microduplications, in addition to all unbalanced chromosomal abnormalities that are also detected by karyotype. aCGH in essence interrogates the genome with thousands of probes fixed on a slide in a single assay, and has already revolutionized cytogenetic diagnosis in the pediatric population. aCGH is being used increasingly for prenatal diagnosis where it is also beginning to make a significant impact. The authors review here principles of aCGH, its benefits for prenatal diagnosis and associated challenges, primarily the inability to detect balanced chromosomal abnormalities and a small risk for discovery of chromosomal abnormalities of uncertain clinical significance. The superior diagnostic power of aCGH far outweighs these concerns. Furthermore, such issues can be addressed during pre- and posttest counseling, and their impact will further diminish as the technology continues to develop and experience with its prenatal diagnostic use grows.