Publications by authors named "Huda B Al-Kouatly"

Article Synopsis
  • Alkuraya-Kučinskas syndrome (AKS) is a rare genetic disorder caused by mutations in the BLTP1 gene, leading to various serious developmental issues such as brain malformations, joint contractures, and clubfeet.
  • A case study highlights two new mutations associated with AKS, showcasing severe anomalies in a fetus, including hydrops and brainstem kink, alongside a literature review of 19 other cases that provides insights into common prenatal features.
  • The review indicates that many AKS cases present significant symptoms like joint contractures, brain issues, and facial abnormalities, stressing the importance of genetic testing for diagnosis when such features are observed in a fetus.
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Objective: To assess the effect of propranolol on time to delivery among patients undergoing induction or augmentation of labor.

Data Sources: PubMed, Scopus, Cochrane Library, ClinicalTrials.gov, and CINAHL (EBSCO) were searched from inception to December 2023.

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Background: Treatment options for severe, refractory iron deficiency anemia are limited in pregnancy.

Objective: To review the available literature on the use of recombinant erythropoietin in the treatment of iron deficiency anemia in pregnancy.

Search Strategy: An electronic search of seven databases from inception to March 2022 was performed using a combination of keywords.

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Methadone maintenance treatment for opioid dependent mothers is standard of care. Infants of methadone maintained opioid dependent (MMOD) mothers have better outcomes compared to infants of opioid dependent mothers without treatment. However, when compared to non-exposed infants, infants of MMOD mothers are associated with worse outcomes.

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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia.

Methods: PubMed, OVID Medline, Scopus, and clinicaltrials.

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Objective: To evaluate if antenatal steroid use was associated with a lower rate of respiratory complications in neonates born late preterm to patients with pregestational diabetes mellitus (PGDM).

Methods: This was a retrospective cohort study of live, singleton, non-anomalous, late preterm births complicated by PGDM using data from the Centers for Disease Control and National Vital Statistics System from 2017 to 2021. The primary (assisted ventilation use >6 h) and secondary neonatal outcomes (immediate assisted ventilation, Apgar score, neonatal intensive care unit [NICU] admission, and surfactant use) were compared between births that received steroids and those that did not.

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Objective: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.

Methods: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology.

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Article Synopsis
  • RASopathies are malformation syndromes linked to severe cases of nonimmune hydrops fetalis (NIHF), but their contribution to NIHF is not well documented, and pathogenic variants can arise de novo or be inherited.
  • A systematic review of prenatal exome sequencing (ES) studies identified 36 relevant studies, revealing that RASopathies were diagnosed in 9% of all NIHF cases and at a higher rate of 23% among genetically diagnosed cases.
  • Of the 46 identified NIHF cases with RASopathy variants, 28% were inherited, with the majority (63%) classified as isolated cases without other anomalies detected prenatally.
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Objective: Excess blood loss from obstetrical hemorrhage requires transfusion of donor blood, a finite resource. Intraoperative cell salvage collects a patient's own blood that has been lost during cesarean delivery and returns it to their own circulation. We performed a meta-analysis to examine the perioperative outcomes in patients receiving cell salvage at the time of cesarean delivery.

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Article Synopsis
  • The study aimed to assess the significance of PIEZO1 gene variants found through prenatal exome sequencing in cases of non-immune hydrops fetalis (NIHF).
  • A systematic review of studies from 2000 to 2022 identified 36 relevant articles, leading to an analysis of 22 pregnancies with 35 unique PIEZO1 variants.
  • Findings indicated that PIEZO1 variants were diagnosed in 10% of NIHF cases, establishing it as the most frequently identified single gene involved in this condition, with variants categorized as either dominant or recessive.
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Objective: To describe the maternal outcomes of a prospective cohort of non-immune hydrops fetalis (NIHF) pregnancies with negative standard-of-care evaluations.

Methods: This study was a secondary analysis of a prospective cohort study of NIHF pregnancies with negative work-ups (infection, alloimmune anemia, fetomaternal hemorrhage, and chromosomal disorders). Outcomes were obstetric complications, including pre-eclampsia, mirror syndrome, preterm birth, polyhydramnios, postpartum hemorrhage, and maternal mental health.

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Background: Pregnancies at high risk for maternal, fetal, or placental complications often necessitate induction of labor in the late preterm or early term period for delivery. Limited data exist on the safest method of induction to use in this specific patient population.

Objective: This study aimed to compare the combination of oxytocin plus a Cook balloon vs misoprostol plus a Cook balloon for induction of labor in high-risk pregnancies.

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Objective: To describe prenatal and postnatal imaging findings of fetal adrenal hemorrhage (FAH) and its associated perinatal outcomes, including frequency of postnatal surgical intervention.

Method: A systematic literature review of seven electronic databases was conducted from inception until January 2022, with 2008 articles identified reporting prenatally identified fetal adrenal masses. Studies with confirmed FAH diagnosis were included.

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Article Synopsis
  • The American College of Obstetricians and Gynecologists recommends offering genetic screening and diagnostic testing to all pregnant individuals, yet there are gaps in understanding how demographics affect this process among prenatal care providers.
  • This study surveyed 635 outpatient prenatal care providers to explore their practices regarding offering diagnostic genetic testing and to analyze how patient and provider demographics influence these offerings.
  • Analyzing the responses, the study aimed to uncover disparities in genetic counseling practices during pregnancy, with a focus on associations related to provider training level, race, and insurance status.
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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.

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The ARRIVE (A Randomized Trial of Induction Versus Expectant Management) trial demonstrated lower rates of hypertensive disorders of pregnancy (HDP) among low-risk nulliparous patients undergoing labor induction at 39 weeks of gestation. We conducted a population-based cohort study in which we evaluated the association between the routinization of 39-week induction and the rate of HDP by comparing rates before and after the ARRIVE trial publication, using the National Vital Statistics System. Logistic regression models were used to project what the HDP rate would have been based on trends seen pre-ARRIVE.

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Background: The global pandemic of coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). About 18.4% of total Covid-19 cases were reported in children.

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Objective: To highlight the possibility of genetic discrimination in the United States with respect to carrier screening under limitations of the Genetic Information Nondiscrimination Act (GINA) and to encourage providers to educate patients about this possibility during pretest counseling.

Methods: Review of current professional guidelines and practice resources regarding the necessary components of pretest counseling for carrier screening in the context of GINA's limitations and the potential impact of carrier screening results on life, long-term care and disability insurance.

Results: Current practice resources advise that patients in the United States should be informed that their employer or health insurance company generally cannot use their genetic information during the underwriting process.

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Objective: This study aimed to review the diagnostic criteria for mirror syndrome and describe its clinical presentation.

Data Sources: Databases from PubMed, Scopus, Cochrane Library, ClinicalTrials.gov, and CINAHL were inquired for case series containing ≥2 cases of mirror syndrome from inception to February 2022.

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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.

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Article Synopsis
  • - Non-immune hydrops fetalis (NIHF) can have various genetic causes that can be identified using exome sequencing (ES), which enhances traditional prenatal diagnostic methods.
  • - A systematic review of 31 studies involving 445 NIHF cases found a 37% diagnostic rate, indicating that ES is particularly effective in consanguineous cases compared to non-consanguineous ones.
  • - The genetic variants identified included several disease categories, primarily RASopathies (24%) and neuromuscular disorders (21%), with a majority of cases showing recessive inheritance patterns (55%).
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