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1.
Obstet Gynecol ; 142(5): 1241-1243, 2023 Nov 01.
Article En | MEDLINE | ID: mdl-37562036

BACKGROUND: Broken suture needles with unintentional foreign body retention are an uncommon occurrence during obstetric procedures. Few reports exist in the literature of cases in pregnant patients. We report a case with the pregnancy management of a broken needle during cerclage placement that was retained in the cervix until repeat cesarean delivery. CASE: A 36-year-old woman, gravida 12 para 5, presented at 13 weeks of gestation for a history-indicated cerclage. The suture needle broke during the cerclage procedure, leaving a 35-mm needle fragment inside the cervical stroma between the 11 and 2 o'clock position that could not be recovered after multiple attempts. The procedure continued without needle recovery. Intraoperative pelvic X-ray was performed, demonstrating the retained fragment. No further attempts at recovery were made during the pregnancy, and a plan was made to proceed with removal at the patient's repeat cesarean delivery. The patient presented in labor at 32 1/7 weeks of gestation and underwent an uncomplicated cesarean delivery. The retained needle was subsequently removed after manual palpation of the fragment transvaginally. CONCLUSION: Retained broken suture needles during obstetric procedures require careful management decisions in pregnant patients. Retention of a needle fragment until delivery may be considered if risks of removal outweigh the anticipated benefits.

2.
Am J Obstet Gynecol ; 229(5): 502-515.e10, 2023 11.
Article En | MEDLINE | ID: mdl-37150281

OBJECTIVE: We performed a systematic review to evaluate the clinical presentation and maternal and fetal outcomes in pregnancies with early-onset HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome. DATA SOURCES: PubMed, Ovid MEDLINE, Scopus, CINAHL, Cochrane Library, and ClinicalTrials.gov were queried from inception through January 1, 2023 with the following terms: "HELLP syndrome," "HELLP," "hemolysis, elevated liver enzymes, low platelets," "hemolysis, elevated liver enzymes, low platelets syndrome," "pre-viable," "peri-viable," "previable," "periviable," "first trimester," "second trimester," "before 23 weeks," "<23 weeks," "<23 week gestation," and "before 23 weeks gestation." We also included an additional case from our institution. STUDY ELIGIBILITY CRITERIA: Abstracts, unpublished studies, and review articles were excluded, yielding 46 studies that met our inclusion criteria. METHODS: Two reviewers (N.S.I. and M.H.M.) performed the study selection and subsequent data extraction independently, after which the results were reviewed together. PRISMA guidelines were followed, and our study was registered at PROSPERO (CRD42021292692). RESULTS: A total of 55 patients had 58 pregnancies complicated by early-onset HELLP syndrome, including 3 with recurrent HELLP. The most common presenting signs/symptoms were abdominal pain (35/45; 78%), hypertension (32/49; 65%), nausea/vomiting (16/45; 36%), headache (13/45; 29%), and edema (8/45; 18%). Lactate dehydrogenase ≥600 IU/L was observed in 21 of 31 (68%) cases, whereas liver enzyme abnormalities and thrombocytopenia were reported in 48 of 51 (94%) and 50 of 54 (93%) cases, respectively. Maternal complications were encountered in 25 of 56 (45%) cases. The most common complications were hepatic (13/56; 23%), central nervous system-related (11/56; 20%), and respiratory (11/56; 20%). In 36 of 57 (63%) cases, pregnancy was terminated. Of the 21 continued pregnancies, early fetal death (at <20 weeks' gestation) was reported in 10 (48%), stillbirth in 6 (28%), and neonatal demise in 2 (10%). Living neonates were reported in 3 of 21 (14%) cases, all delivered at 23 weeks. The perinatal mortality rate was 73% (8/11). One case (2%) reported maternal death. Antiphospholipid syndrome was diagnosed in 14 of 29 (48%) cases. CONCLUSION: Early-onset HELLP syndrome presents with symptoms similar to those observed in later gestation. Maternal complications are life-threatening, with the most common complications being hepatic, central nervous system-related, and respiratory. Fetal outcomes are poor.


HELLP Syndrome , Thrombocytopenia , Infant, Newborn , Female , Pregnancy , Humans , Hemolysis , Pregnancy Trimester, Second , Thrombocytopenia/epidemiology , Gestational Age
3.
Clin Genet ; 103(5): 503-512, 2023 05.
Article En | MEDLINE | ID: mdl-36757664

Non-immune hydrops fetalis (NIHF) has multiple genetic etiologies diagnosable by exome sequencing (ES). We evaluated the yield of prenatal ES for NIHF, and the contribution of additional clinical findings and history. Systematic review was performed with PROSPERO tag 232951 using CINAHL, PubMed, and Ovid MEDLINE from January 1, 2000 through December 1, 2021. Selected studies performed ES to augment standard prenatal diagnostic approaches. Cases meeting a strict NIHF phenotype were tabulated with structured data imputed from papers or requested from authors. Genetic variants and diagnostic outcomes were harmonized across studies using current ACMG and ClinGen variant classification guidelines. Thirty-one studies reporting 445 NIHF cases had a 37% (95% CI: 32%-41%) diagnostic rate. There was no significant difference between isolated NIHF and NIHF with fetal malformations or between recurrent and simplex cases. Diagnostic rate was higher for consanguineous than non-consanguineous cases. Disease categories included RASopathies (24%), neuromuscular (21%), metabolic (17%), lymphatic (13%), other syndromes (9%), cardiovascular (5%), hematologic (2%), skeletal (2%), and other categories (7%). Inheritance patterns included recessive (55%), dominant (41%), and X-linked (4%). ES should be considered in the diagnostic workup of NIHF with and without associated ultrasound findings regardless of history of recurrence or consanguinity.


Hydrops Fetalis , Pregnancy , Female , Humans , Hydrops Fetalis/diagnosis , Hydrops Fetalis/genetics , Exome Sequencing , Consanguinity
4.
Mol Genet Genomic Med ; 9(4): e1621, 2021 04.
Article En | MEDLINE | ID: mdl-33625768

BACKGROUND: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual's 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.


Amino Acid Metabolism, Inborn Errors/genetics , Carboxy-Lyases/deficiency , Coenzyme A Ligases/genetics , Genetic Carrier Screening , Metabolism, Inborn Errors/genetics , Adult , Amino Acid Metabolism, Inborn Errors/pathology , Amino Acid Metabolism, Inborn Errors/psychology , Amniocentesis/psychology , Carboxy-Lyases/genetics , Female , Genetic Counseling/psychology , Heterozygote , Humans , Male , Malonyl Coenzyme A/genetics , Metabolism, Inborn Errors/pathology , Metabolism, Inborn Errors/psychology , Methylmalonic Acid , Mutation , Pregnancy , Truth Disclosure
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