Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature.

The restrictive lung disease can be exacerbated by growing fundus in women with osteogenesis imperfecta type III. Regional anesthesia can be performed in these women. Mode of delivery for women with osteogenesis imperfecta type III is generally cesarean delivery. Neonatal outcomes are complicated due to indicated preterm deliveries

Phrenic nerve injury secondary to extracorporeal membrane oxygenation in pregancy: A case report

Extracorporeal membrane oxygenation (ECMO) is used to provide acute respiratory and/or hemodynamic support to patients with severe, refractory respiratory failure. Phrenic nerve injury with subsequent hemidiaphragm paralysis should be included in the differential diagnosis of pregnant women with persistent hypoxia after ECMO cannulation

Pregnancy management in a patient with stickler syndrome.

BACKGROUND: Stickler syndrome is a collagen disorder that can affect multiple organ systems. It is characterized by ocular abnormalities, hearing loss, midfacial hypoplasia, hypermobility, and joint abnormalities. The phenotypic expression of Stickler syndrome can vary among those affected. Since Stickler syndrome is a collagen disorder, it is possible to expect pregnancy complications similar to those reported in other collagen disorders. To our knowledge, there is only one case report in the literature on the management of pregnancy and delivery of a patient with Stickler syndrome. METHODS/CASE REPORT: A 37-year-old primigravid woman with a diagnosis of Stickler syndrome presented at 9 weeks gestation for prenatal genetic consultation. At 26, the patient had prophylactic laser therapy for lattice degeneration of the retina. At 32, she was found to be heterozygous for the c.1527 G\u3eT variant in the COL2A1 gene, which is associated with ocular abnormalities and autosomal dominant form of Stickler syndrome. Subsequently, she desired to pursue prenatal diagnostic testing for the familial variant. The patient voiced that the results would impact pregnancy management. Amniocentesis was performed at 16 weeks gestation. Results were negative for the maternal COL2A1 variant. Karyotype was normal (46, XX). RESULTS: A multidisciplinary team using a patient-centered approach including obstetrics, ophthalmology, maternal-fetal medicine, and genetics determined that there were no contraindications for vaginal delivery. At 39 weeks, the patient underwent spontaneous vaginal delivery with no complications. CONCLUSION: There is a paucity of data available regarding the maternal outcomes of women affected with collagen disorders, especially Stickler Syndrome. This case highlights the importance of accurate genetic diagnosis in the prenatal period and provides information to physicians caring for patients with Stickler syndrome

Non-obstetrical robotic-assisted laparoscopic surgery in pregnancy: a systematic literature review.

Urologic and gynecologic surgeons are the top utilizers of robotic surgery; however, non-obstetrical robotic-assisted laparoscopic surgery (RALS) in pregnant patients is infrequent. A systematic literature review was performed to ascertain the frequency, indication and complications of RALS in pregnancy. Results showed thirty-eight pregnancies from eleven publications between 2008-2020. Five cases were for urologic indication and thirty-three for gynecologic indication. Minimal surgical alterations were required. Although no adverse maternal-fetal outcomes were reported, there are not enough cases published to determine safety. This review demonstrates the feasibility of RALS for the pregnant population in the hands of competent robotic surgeons

Robotic Adrenalectomy for Functional Adenoma in Second Trimester Treats Worsening Hypertension.

A 33-year-old G6P3023 was found to have a 4.2 cm right adrenal incidentaloma during an admission for right pyelonephritis. Computed tomography (CT) was performed to rule out perinephric abscess in the setting of worsening leukocytosis while on antibiotics ( Fig. 1). Initial differential diagnosis from endocrinology included pheochromocytoma and primary aldosteronism. Due to the lack of typical physical exam stigmata, Cushing syndrome was initially of low concern. Of note, her past medical history included hypertension treated with amlodipine 10 mg and hydrochlorothiazide 12.5 mg. During admission, extensive endocrine laboratory workup demonstrated an elevated aldosterone:plasma renin activity, suppressed dehydroepiandrosterone (DHEA), normal 24-hour urine metanephrine and catecholamine, and hypokalemia ( Table 1). This initial biochemical workup did not provide any definitive diagnosis; however, it did convincingly rule out pheochromocytoma due to the normal catecholamine levels in the serum and urine. Eliminating this pathology was critical due to the mortality of hypertensive crisis in the perioperative period

MicroRNA Analysis in Maternal Blood of Pregnancies with Preterm Premature Rupture of Membranes Reveals a Distinct Expression Profile

OBJECTIVE: To determine the expression profile of microRNAs in the peripheral blood of pregnant women with preterm premature rupture of membranes (PPROM) compared to that of healthy pregnant women. STUDY DESIGN: This was a pilot study with case-control design in pregnant patients enrolled between January 2017 and June 2019. Patients with healthy pregnancies and those affected by PPROM between 20- and 33+6 weeks of gestation were matched by gestational age and selected for inclusion to the study. Patients were excluded for multiple gestation and presence of a major obstetrical complication such as preeclampsia, diabetes, fetal growth restriction and stillbirth. A total of ten (n = 10) controls and ten (n = 10) patients with PPROM were enrolled in the study. Specimens were obtained before administration of betamethasone or intravenous antibiotics. MicroRNA expression was analyzed for 800 microRNAs in each sample using the NanoString nCounter Expression Assay. Differential expression was calculated after normalization and log2- transformation using the false discovery rate (FDR) method at an alpha level of 5%. RESULTS: Demographic characteristics were similar between the two groups. Of the 800 miRNAs analyzed, 116 were differentially expressed after normalization. However, only four reached FDR-adjusted statistical significance. Pregnancies affected by PPROM were characterized by upregulation of miR-199a-5p, miR-130a-3p and miR-26a-5p and downregulation of miR-513b-5p (FDR adjusted p-values CONCLUSION: Patients with PPROM have a distinct peripheral blood microRNA profile compared to healthy pregnancies as measured by the NanoString Expression Assay

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

BACKGROUND: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual\u27s carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such screening panels. Some cases have been reported with metabolic symptoms in childhood yet other cases describe a benign clinical course, suggesting the clinical phenotype is not well defined. METHODS/CASE REPORT: Clinical and laboratory findings during the prenatal period were obtained retrospectively from medical records. RESULTS: A 37-year-old nulliparous woman and her partner were each identified as carriers of ACSF3 variants and presented at 9 weeks gestation for prenatal genetic consultation. The couple received extensive genetic counseling and proceeded with chorionic villus sampling at 11 weeks gestation. Subsequent analysis confirmed that the fetus inherited both parental ACSF variants. The couple was devastated by the results and after reviewing options of pregnancy continuation and termination, they decided to terminate the pregnancy. Following this decision, the patient was diagnosed with acute stress disorder. CONCLUSION: This case highlights how expanded carrier screening adds complexity to reproductive decision-making. Stronger guidelines and additional research are needed to direct and evaluate the timing, composition, and implementation of ECS panels

A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1

We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22) carrier from our institution. Among the 16 balanced t(9;22) carriers in our review, 13 were maternal and 3 were paternal. Of the 15 unbalanced translocation cases identified, 13 were live births, one was a missed abortion, and one resulted in pregnancy termination. The spectrum of established syndromes reported among the live births was the following: trisomy 9p syndrome (6/13), dual trisomy 9p and DiGeorge syndrome (3/13), dual 9q subtelomere deletion syndrome and DiGeorge syndrome (1/13), 9q subtelomere deletion syndrome (1/13), and DiGeorge syndrome (1/13). One unbalanced case did not have a reported syndrome. The phenotype of the unbalanced cases included cardiac abnormalities (5/13), neurological findings (7/13), intellectual disability (6/10), urogenital anomalies (3/13), respiratory or immune dysfunction (3/13), and facial or skeletal dysmorphias (13/13). Any constitutional balanced reciprocal t(9;22) carrier should be counseled regarding the increased risk of having a child with an unbalanced translocation, the spectrum of possible cytogenetic abnormalities, and predicted clinical phenotype for the unbalanced derivative