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CEN Case Reports Apr 2024We report a case of a pregnant patient with Gitelman syndrome (GS) who conceived by in vitro fertilization-embryo transfer (IVF-ET). A 39-year-old woman was referred for...
We report a case of a pregnant patient with Gitelman syndrome (GS) who conceived by in vitro fertilization-embryo transfer (IVF-ET). A 39-year-old woman was referred for hypokalemia, with a serum potassium level of 2.2 mEq/L. She had difficulty conceiving spontaneously. Because of her age, her hypokalemia could be exacerbated by pregnancy. We provided preconception care and managed her pregnancy by frozen-thawed embryo transfer with careful monitoring of the K levels. However, her serum K level dropped to 2.5 mEq/L at 8 weeks of gestation. It was expected that her K demand would increase with pregnancy; hence, she required hospitalization and a 1.5-fold increase in replacement dose to maintain her K levels. At 11 weeks of gestation, her serum K level rose to 3.0 mEq/L. The baby was born adequately sized after 38 weeks of gestation via vaginal delivery. The patient's K levels were stable during the postpartum period. Genetic testing revealed three heterozygous missense variants in SLC12A3 that were consistent with GS. In conclusion, preconception care and cooperation between internal medicine and obstetrics led to an excellent and successful delivery of an IVF fetus in an older patient with GS. There are no guidelines for electrolyte disorders in pregnancy, and only a few studies have reported on GS during pregnancy, including detailed postpartum assessments.
PubMed: 38630244
DOI: 10.1007/s13730-024-00872-4 -
The Journal of Nutrition Jun 2024Data regarding effects of small-quantity-lipid-based nutrient supplements (SQ-LNS) on maternal serum zinc concentrations (SZC) in pregnancy and lactation are limited. (Randomized Controlled Trial)
Randomized Controlled Trial
Zinc Supplementation Initiated Prior to or During Pregnancy Modestly Impacted Maternal Status and High Prevalence of Hypozincemia in Pregnancy and Lactation: The Women First Preconception Maternal Nutrition Trial.
BACKGROUND
Data regarding effects of small-quantity-lipid-based nutrient supplements (SQ-LNS) on maternal serum zinc concentrations (SZC) in pregnancy and lactation are limited.
OBJECTIVES
The objectives of this study were to evaluate the effect of preconception compared with prenatal zinc supplementation (compared with control) on maternal SZC and hypozincemia during pregnancy and early lactation in women in low-resource settings, and assess associations with birth anthropometry.
METHODS
From ∼100 women/arm at each of 3 sites (Guatemala, India, and Pakistan) of the Women First Preconception Maternal Nutrition trial, we compared SZC at 12- and 34-wk gestation (n = 651 and 838, respectively) and 3-mo postpartum (n = 742) in women randomly assigned to daily SQ-LNS containing 15 mg zinc from ≥3 mo before conception (preconception, arm 1), from ∼12 wk gestation through delivery (early pregnancy, arm 2) or not at all (control, arm 3). Birth anthropometry was examined for newborns with ultrasound-determined gestational age. Statistical analyses were performed separately for each time point.
RESULTS
At 12-wk gestation and 3-mo postpartum, no statistical differences in mean SZC were observed among arms. At 34-wk, mean SZC for arms 1 and 2 were significantly higher than for arm 3 (50.3, 50.8, 47.8 μg/dL, respectively; P = 0.005). Results were not impacted by correction for inflammation or albumin concentrations. Prevalence of hypozincemia at 12-wk (<56 μg/dL) was 23% in Guatemala, 26% in India, and 65% in Pakistan; at 34 wk (<50 μg/dL), 36% in Guatemala, 48% in India, and 74% in Pakistan; and at 3-mo postpartum (<66 μg/dL) 79% in Guatemala, 91% in India, and 92% in Pakistan. Maternal hypozincemia at 34-wk was associated with lower birth length-for-age Z-scores (all sites P = 0.013, Pakistan P = 0.008) and weight-for-age Z-scores (all sites P = 0.017, Pakistan P = 0.022).
CONCLUSIONS
Despite daily zinc supplementation for ≥7 mo, high rates of maternal hypozincemia were observed. The association of hypozincemia with impaired fetal growth suggests widespread zinc deficiency in these settings. This trial is registered at clinicaltrials.gov as #NCT01883193.
Topics: Humans; Female; Pregnancy; Zinc; Dietary Supplements; Lactation; Adult; Maternal Nutritional Physiological Phenomena; Infant, Newborn; Prevalence; Young Adult; Pregnancy Complications; India; Nutritional Status; Preconception Care
PubMed: 38621624
DOI: 10.1016/j.tjnut.2024.04.018 -
American Journal of Obstetrics &... Jun 2024The preconception consultation has traditionally centered pregnancy as desired and preordained. Separating preconception and contraceptive visits burdens patients and...
The preconception consultation has traditionally centered pregnancy as desired and preordained. Separating preconception and contraceptive visits burdens patients and further fragments reproductive healthcare. We argue that the creation of a combined preconception and complex contraception clinic for individuals with significant medical and obstetrical comorbidities is one approach to promoting reproductive autonomy. Pregnancy planning, prevention, and risk evaluation clinics are designed to review pregnancy-related risks in the setting of patients' medical and obstetrical comorbidities, recommend strategies to reduce risks, and, if desired, provide contraceptive methods. Consultations for pregnancy risk evaluation and pregnancy prevention should not be considered mutually exclusive. Combining these visits is crucial for obstetrically and/or medically complex patients. Rethinking the traditional preconception consultation is a change in healthcare delivery that centers comprehensive reproductive healthcare.
Topics: Humans; Female; Preconception Care; Pregnancy; Risk Assessment; Family Planning Services; Referral and Consultation; Ambulatory Care Facilities; Contraception; Pregnancy Complications
PubMed: 38614207
DOI: 10.1016/j.ajogmf.2024.101376 -
Indian Pediatrics Apr 2024The preconception period is the earliest window of opportunity to ensure optimal human development. Pregnancy and childbirth outcomes can be improved by interventions... (Review)
Review
JUSTIFICATION
The preconception period is the earliest window of opportunity to ensure optimal human development. Pregnancy and childbirth outcomes can be improved by interventions offered to support the health and well-being of women and couples prior to conception. Thus, preconception care is essential in preparing for the first thousand days of life. Adolescence, the stage of life that typically comes before the preconception stage, is characterized by various high-risk behaviors like substance abuse, sexual experimentation, injuries, obesity, and mental health issues which can adversely affect their health in adult life. Thus, a Consensus Guideline for pediatricians on providing preconception care to adolescents and young adults can go a long way in making the generations to come, healthier and more productive.
OBJECTIVES
The purpose of these recommendations is to formulate an evidence-based Consensus Statement that can serve as a guidance for medical professionals to provide preconception care for young adults and adolescents.
INTENDED USERS
All obstetric, pediatric, and adolescent health care providers.
TARGET POPULATION
Adolescents and young adults.
PROCESS
A large proportion of adolescents seek care from pediatricians and there is a lack of Consensus Guidelines on preconception care. Therefore, the Indian Academy of Pediatrics called an online National Consultative Meeting on April 03, 2023, under the chairmanship of Dr MKC Nair and the National Convenor Dr Himabindu Singh. A group of pediatricians with wide experience and expertise in adolescent health care were assigned the task of formulating evidence-based guidelines on preconception care. The group conducted a comprehensive review of existing evidence by searching resources including PubMed and Cochrane databases. Subsequently, a physical meeting was held at Amritsar on October 07, 2023 during which the consensus was reached through discussions and voting. The level of evidence (LoE) of each recommendation was graded as per the Oxford Centre for Evidence-Based Medicine (OCEBM) 2011.
RECOMMENDATIONS
Every woman planning a pregnancy needs to attain and maintain a eumetabolic state. Prospective couples need to be counselled on the importance of a healthy lifestyle including a nutritious diet, avoidance of substance abuse, and timely screening for genetic disorders. Screening for and management of sexually transmitted diseases in males and females, appropriate vaccination and addressing mental health concerns are also recommended.
Topics: Adolescent; Female; Humans; Male; Pregnancy; Young Adult; Asian People; Consensus; Preconception Care; Prospective Studies; Substance-Related Disorders
PubMed: 38597099
DOI: No ID Found -
Neurology. Clinical Practice Apr 2024Lack of consistent data and guidance have led to variations between clinicians in the management of pregnancy in women with multiple sclerosis (MS). Pregnant and/or... (Review)
Review
PURPOSE OF REVIEW
Lack of consistent data and guidance have led to variations between clinicians in the management of pregnancy in women with multiple sclerosis (MS). Pregnant and/or lactating women are often excluded from clinical trials conducted in MS, and thus, the labeling for most disease-modifying therapies (DMTs) excludes use during pregnancy. This has led to heterogeneity in interpretation and labeling regarding the safety of DMTs during pregnancy and lactation and the required preconception washout periods. This review identifies key themes where there is conflicting information surrounding family planning and pregnancy in MS, focusing on the most common discussion points between physicians and patients during preconception planning, pregnancy, postpartum, and lactation. The goal was to inform the patient-physician conversation and provide best practice recommendations based on expert clinical expertise and experience.
RECENT FINDINGS
We outline the latest evidence-based data for DMT use during pregnancy and lactation, the effect of MS on fertility and fertility treatments, the risk of adverse pregnancy and delivery outcomes, the risk of postpartum relapse, and immunization and clinical imaging safety during pregnancy and breastfeeding.
SUMMARY
Management of family planning and pregnancy in patients with MS requires the most current information. Health care providers should discuss family planning early and frequently with patients with MS, and partners where practicable. Because management of pregnant people with MS will often require a risk/benefit analysis of their needs, shared decision-making in family planning discussions is emphasized. Additional data are needed for specific and underrepresented populations with MS (e.g., single parents or those from the LGBTQ+ community) and those at risk of racial and socioeconomic disparities in care. Pregnancy registries and the design and conduct of clinical trials focused on pregnant and lactating patients should provide additional data to guide the ongoing management of patients with MS.
PubMed: 38585436
DOI: 10.1212/CPJ.0000000000200253 -
Frontiers in Cardiovascular Medicine 2024Spontaneous coronary artery dissection (SCAD) is an uncommon condition which is increasingly recognized as a cause of significant morbidity. SCAD can cause acute... (Review)
Review
Spontaneous coronary artery dissection (SCAD) is an uncommon condition which is increasingly recognized as a cause of significant morbidity. SCAD can cause acute coronary syndrome and myocardial infarction (MI), as well as sudden cardiac death. It presents similarly to atherosclerotic MI although typically in patients with few or no atherosclerotic risk factors, and particularly in women. As more patients are recognized to have this condition, there is a great need for clinician familiarity with diagnostic criteria, as well as with contemporary treatment approaches, and with appropriate patient-centered counseling, including genetic testing, exercise recommendations, and psychological care. The standard of care for patients with SCAD is rapidly evolving. This review therefore summarizes the diagnosis of SCAD, epidemiology, modern treatment, cardiac rehabilitation and preconception counseling, and the current approach to genetic testing, exercise recommendations, and psychological care, all of which are crucial to the vascular medicine specialist.
PubMed: 38572306
DOI: 10.3389/fcvm.2024.1352700 -
Public Health Research & Practice Apr 2024To investigate the availability of resources at an Australian university workplace to support the health, wellbeing, and transition to parenthood of female employees...
OBJECTIVE
To investigate the availability of resources at an Australian university workplace to support the health, wellbeing, and transition to parenthood of female employees working during the preconception, pregnancy, and postpartum periods. Type of program or service: Workplace health promotion for female employees of reproductive age.
METHODS
A survey of female employees aged 18-45 years evaluated participant health practices, availability of work and parenting supports, and access to health and wellbeing resources in the workplace. Additionally, an environmental assessment was completed by employees with a knowledge of local healthy lifestyle supports and a minimum of 2 years' employment. The assessment documented site characteristics and availability of wellbeing facilities across 10 campuses.
RESULTS
There were 241 valid survey responses. Of 221 respondents to a question about workplace support, 76% (n = 168) indicated that the workplace should play a role in supporting the transition to parenthood and in health promotion, with 64.1% of 223 participants disagreeing with the statement "my health is not the responsibility of the university". Both the survey and environmental assessment revealed that access to parenting resources to support employee health and wellbeing were suboptimal.
LESSONS LEARNT
There is a misalignment between the needs of female employees working during these health-defining life stages, and the availability of resources to support those needs. Regulatory guidance may be required to navigate resource gaps within the work environment and address factors impacting the health and wellbeing of employees of reproductive age.
Topics: Pregnancy; Humans; Female; Australia; Workplace; Health Promotion; Occupational Health; Working Conditions
PubMed: 38569573
DOI: 10.17061/phrp3412408 -
PloS One 2024Pregnant beneficiaries in the two primary Medicaid eligibility categories, traditional Medicaid and pregnancy Medicaid, have differing access to care especially in the...
OBJECTIVES
Pregnant beneficiaries in the two primary Medicaid eligibility categories, traditional Medicaid and pregnancy Medicaid, have differing access to care especially in the preconception and postpartum periods. Pregnancy Medicaid has higher income limits for eligibility than traditional Medicaid but only provides coverage during and for a limited time period after pregnancy. Our objective was to determine the association between type of Medicaid (traditional Medicaid and pregnancy Medicaid) on receipt of outpatient care during the perinatal period.
METHODS
This retrospective cohort study compared outpatient visits using linked birth certificate and Medicaid claims from all Medicaid births in Oregon and South Carolina from 2014 through 2019. Pregnancy Medicaid ended 60 days postpartum during the study. Our primary outcome was average number of outpatient visits per 100 beneficiaries each month during three perinatal time points: preconceputally (three months prior to conception), prenatally (9 months prior to birthdate) and postpartum (from birth to 12 months).
RESULTS
Among 105,808 Medicaid-covered births in Oregon and 141,385 births in South Carolina, pregnancy Medicaid was the most prevelant categorical eligibility. Traditional Medicaid recipients had a higher average number of preconception, prenatal and postpartum visits as compared to those in pregnancy Medicaid.
DISCUSSION
In South Carolina, those using traditional Medicaid had 450% more preconception visits and 70% more postpartum visits compared with pregnancy Medicaid. In Oregon, those using traditional Medicaid had 200% more preconception visits and 29% more postpartum visits than individuals using pregnancy Medicaid. Lack of coverage in both the preconception and postpartum period deprive women of adequate opportunities to access health care or contraception. Changes to pregnancy Medicaid, including extended postpartum coverage through the American Rescue Plan Act of 2021, may facilitate better continuity of care.
Topics: Pregnancy; United States; Female; Humans; Medicaid; Retrospective Studies; Prenatal Care; Postpartum Period; Contraception
PubMed: 38568923
DOI: 10.1371/journal.pone.0299818 -
Molecular Genetics & Genomic Medicine Apr 2024To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
BACKGROUND
To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
METHODS
The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high-risk parents, and the clinical outcome of high-risk parents were statistically analyzed.
RESULTS
A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108-gene test, their overall carrier rate was 31.7%, and the detection rate of high-risk parents was 0.3%. The highest carrier rates were SLC22A (2.4%), ATP7B (2.4%), MMACHC (2.2%), PAH (1.8%), GALC (1.8%), MLC1 (1.3%), UNC13D (1.1%), CAPN3 (1.1%), and PKHD1 (1.1%). There were 488 women with fragile X syndrome-FMR1 gene detection, and 6 patients (1.2%) had FMR1 gene mutation. A total of 426 patients were screened for spinal muscular atrophy-SMN1, and the carrier rate was 3.5%, and the detection rate of parents' co-carrier was 0.5%.
CONCLUSION
Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.
Topics: Pregnancy; Humans; Female; Retrospective Studies; Genetic Testing; Prenatal Diagnosis; Mutation; Muscular Atrophy, Spinal; Fragile X Mental Retardation Protein; Oxidoreductases; Membrane Proteins
PubMed: 38562051
DOI: 10.1002/mgg3.2425 -
Medicine Mar 2024The aim of this study is to investigate the application performance of rapid copy number variation sequencing (rCNV-seq) technology for the detection of chromosomal...
The aim of this study is to investigate the application performance of rapid copy number variation sequencing (rCNV-seq) technology for the detection of chromosomal abnormalities during prenatal diagnosis. Samples were collected from 424 pregnant women who were at high-risk for noninvasive prenatal screening in Kunming Maternal and Child Care Hospital from January 2018 to May 2022. rCNV-seq technique was used to detect fetal chromosome abnormalities and compare the results with that of chromosomal karyotype analysis. The Result showed that 330 (77.83%, 330/424) cases indicated chromosomal abnormalities among 424 high-risk pregnant women who underwent rCNV-seq. Moreover, 94 (22.17%, 94/424) cases were discovered to have copy number variations. Among the 330 fetuses with chromosomal abnormalities, common autosomal aneuploidy was observed in 203 cases (47.87%, 203/424) and sex chromosome aneuploidy was observed in 91 cases (21.46%, 91/424). Moreover, the abnormalities in multiple chromosomes were discovered in 33 cases (7.78%, 33/424), and the rare autosomal aneuploidy was observed in 3 cases (0.71%, 3/424). There were 63 fetuses (14.86%, 63/424) with pathogenic CNVs among the 94 fetuses with variable copy numbers. Of the 245 pregnant women who voluntarily selected G-band karyotyping, 1 fetus with copy number variation had normal karyotype results, and the remaining women were consistent with rCNV-seq. Our study revealed that rCNV-seq has higher accuracy in detecting common trisomy and can also detect chromosomal microdeletions or microduplications that cannot be detected by G-banding karyotype analysis. There is no effective treatment for chromosomal diseases, so it is particularly important to prevent chromosomal diseases through genetic counseling and prenatal diagnosis of chromosomal diseases.
Topics: Female; Pregnancy; Humans; DNA Copy Number Variations; Aneuploidy; Chromosome Disorders; Chromosome Aberrations; Prenatal Diagnosis; Syndrome; High-Throughput Nucleotide Sequencing; Chromosomes
PubMed: 38552051
DOI: 10.1097/MD.0000000000037610