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1.
BMC Pregnancy Childbirth ; 24(1): 93, 2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38297236

RESUMO

BACKGROUND: To evaluate the clinical significance of noninvasive prenatal testing (NIPT) for detecting fetal sex chromosome aneuploidies (SCAs) in Korean pregnant women. METHODS: We retrospectively analyzed NIPT data from 9,176 women with singleton pregnancies referred to the CHA Biotech genome diagnostics center. Cell-free fetal DNA (cffDNA) was extracted from maternal peripheral blood, and high-throughput massively parallel sequencing was conducted. Subsequently, the positive NIPT results for SCA were validated via karyotype and chromosomal microarray analyses. RESULTS: Overall, 46 cases were SCA positive after NIPT, including 20, 12, 8, and 6 for Turner, triple X, Klinefelter, and Jacob syndromes, respectively. Among 37 women with invasive prenatal diagnosis, 19 had true positive NIPT results. The overall positive predictive value (PPV) of NIPT for detecting SCAs was 51.35%. The PPV was 18.75% for Turner, 88.89% for triple X, 71.43% for Klinefelter, and 60.00% for Jacob's syndromes. NIPT accuracy for detecting sex chromosome trisomies was higher than that for sex chromosome monosomy (P = 0.002). No significant correlation was observed between fetal SCA incidence and maternal age (P = 0.914), except for the borderline significance of Jacob's syndrome (P = 0.048). No significant differences were observed when comparing NIPT and karyotyping validation for fetal SCA according to pregnancy characteristics. CONCLUSION: Our data suggest that NIPT can reliably screen for SCAs, and it performed better in predicting sex chromosome trisomies compared with monosomy X. No correlation was observed between maternal age and fetal SCA incidence, and no association was observed between different pregnancy characteristics. The accuracy of these findings requires improvements; however, our study provides an important reference for clinical genetic counseling and further management. Larger scale studies, considering confounding factors, are required for accurate evaluation.


Assuntos
Teste Pré-Natal não Invasivo , Transtornos dos Cromossomos Sexuais , Trissomia , Cariótipo XYY , Feminino , Gravidez , Humanos , Estudos Retrospectivos , Gestantes , Aneuploidia , Aberrações dos Cromossomos Sexuais , Diagnóstico Pré-Natal/métodos , Cromossomos Sexuais/genética , República da Coreia
2.
J Korean Med Sci ; 39(3): e31, 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38258363

RESUMO

BACKGROUND: Postpartum depression (PPD) can negatively affect infant well-being and child development. Although the frequency and risk factors of PPD symptoms might vary depending on the country and culture, there is limited research on these risk factors among Korean women. This study aimed to elucidate the potential risk factors of PPD throughout pregnancy to help improve PPD screening and prevention in Korean women. METHODS: The pregnant women at 12 gestational weeks (GW) were enrolled from two obstetric specialized hospitals from March 2013 to November 2017. A questionnaire survey was administered at 12 GW, 24 GW, 36 GW, and 4 weeks postpartum. Depressive symptoms were assessed using the Edinburgh Postnatal Depression Scale, and PPD was defined as a score of ≥ 10. RESULTS: PPD was prevalent in 16.3% (410/2,512) of the participants. Depressive feeling at 12 GW and postpartum factors of stress, relationship with children, depressive feeling, fear, sadness, and neonatal intensive care unit admission of baby were significantly associated with a higher risk of PPD. Meanwhile, high postpartum quality of life and marital satisfaction at postpartum period were significantly associated with a lower risk of PPD. We developed a model for predicting PPD using factors as mentioned above and it had an area under the curve of 0.871. CONCLUSION: Depressive feeling at 12 GW and postpartum stress, fear, sadness, relationship with children, low quality of life, and low marital satisfaction increased the risk of PPD. A risk model that comprises significant factors can effectively predict PPD and can be helpful for its prevention and appropriate treatment.


Assuntos
Depressão Pós-Parto , Resultado da Gravidez , Lactente , Criança , Recém-Nascido , Gravidez , Feminino , Humanos , Depressão Pós-Parto/diagnóstico , Depressão Pós-Parto/epidemiologia , Qualidade de Vida , Fatores de Risco , República da Coreia/epidemiologia
3.
J Pers Med ; 13(10)2023 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-37888079

RESUMO

Cell-free DNA (cfDNA) screening for normal fetal aneuploidy has been widely adopted worldwide due to its convenience, non-invasiveness, and high positive predictive rate. We retrospectively evaluated 9327 Korean women with single pregnancies who underwent a non-invasive prenatal test (NIPT) to investigate how various factors such as maternal weight, age, and the method of conception affect the fetal fraction (FF). The average FF was 9.15 ± 3.31%, which decreased significantly as the maternal body mass index (BMI) increased (p < 0.001). The highly obese group showed a 'no-call' rate of 8.01%, which is higher than that of the normal weight group (0.33%). The FF was 8.74 ± 3.20% when mothers were in their 40s, and lower than that when in their 30s (9.23 ± 3.34, p < 0.001) and in the natural pregnancy group (9.31% ± 3.33). The FF of male fetuses was observed to be approximately 2.76% higher on average than that of female fetuses. As the gestational age increased, there was no significant increase in the fraction of fetuses up to 21 weeks compared to that at 10-12 weeks, and a significant increase was observed in the case of 21 weeks or more. The FFs in the NIPT high-risk result group compared to that in the low-risk group were not significantly different (p = 0.62). In conclusion, BMI was the factor most associated with the fetal fraction. Although the NIPT is a highly prevalent method in prenatal analysis, factors affecting the fetal fraction should be thoroughly analyzed to obtain more accurate results.

4.
J Korean Med Sci ; 38(38): e300, 2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37750371

RESUMO

BACKGROUND: The purpose of this study was to evaluate the effect of vanishing twin (VT) on maternal serum marker concentrations and nuchal translucency (NT). METHODS: This is a secondary analysis of a multicenter prospective cohort study in 12 institutions. Serum concentrations of pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein (AFP), total human chorionic gonadotrophin, unconjugated estriol, and inhibin A in the second trimester were measured, and NT was measured between 10 and 14 weeks of gestation. RESULTS: Among 6,793 pregnant women, 5,381 women were measured for serum markers in the first or second trimester, including 65 cases in the VT group and 5,316 cases in the normal singleton group. The cases in the VT group had a higher median multiple of the median value of AFP and inhibin A than the normal singleton group. The values of other serum markers and NT were not different between the two groups. After the permutation test with adjustment, AFP and inhibin A remained significant differences. The frequency of abnormally increased AFP was also higher in the VT group than in the normal singleton group. CONCLUSION: VT can be considered as an adjustment factor for risk assessment in the second-trimester serum screening test.


Assuntos
Medição da Translucência Nucal , alfa-Fetoproteínas , Gravidez , Humanos , Feminino , Segundo Trimestre da Gravidez , Estudos Prospectivos , Família
5.
Diagnostics (Basel) ; 13(15)2023 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-37568895

RESUMO

As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromosomal abnormalities is on the rise. Therefore, prenatal genetic screening and diagnosis have become essential elements in contemporary obstetrical care. Trophoblast retrieval and isolation from the cervix (TRIC) is a non-invasive procedure that can be utilized for prenatal genetic diagnosis. The method involves the isolation of fetal cells (extravillous trophoblasts) by transcervical sampling; along with its non-invasiveness, TRIC exhibits many other advantages such as its usefulness in early pregnancy at 5 weeks of gestation, and no interference by various fetal and maternal factors. Moreover, the trophoblast yields from TRIC can provide valuable information about obstetrical complications related to abnormal placentation even before clinical symptoms arise. The standardization of this clinical tool is still under investigation, and the upcoming advancements in TRIC are expected to meet the increasing need for a safe and accurate option for prenatal diagnosis.

6.
J Pers Med ; 13(3)2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36983626

RESUMO

The aim of this research is to investigate the risk factors during pregnancy affect abnormal lipid profiles in women with early postpartum period. This was a single-center retrospective study including 869 women who delivered between December 2017 and May 2019. We collected total cholesterol levels, both at 24-28 GWs and 1 month before delivery. Lipid profiles such as total cholesterol, high-density lipoprotein (HDL), triglyceride (TG) and low-density lipoprotein (LDL) at 6 weeks after delivery were retrieved. Subjects were categorized into 3 groups such as normal, borderline and abnormal group according to the lipid profile levels. The risk factors associated with borderline to abnormal HDL level were body mass index (BMI) of pre-pregnancy (OR = 1.182, 95% CI: 1.116-1.252, p < 0.001), weight gain during pregnancy (OR = 1.085, 95% CI: 1.042-1.131, p < 0.001) and hypertension (HTN) (OR = 3.451, 95% CI: 1.224-9.727, p = 0.02). The risk factors associated with borderline or abnormal TG were BMI of pre-pregnancy, weight gain during pregnancy and weight reduction after delivery. HTN was associated with borderline to abnormal TG in postpartum (OR = 2.891, 95% CI: 1.168-7.156, p = 0.02), while GDM correlated purely with abnormal TG in postpartum (OR = 2.453, 95% CI: 1.068-5.630, p = 0.03). Abnormal lipid profiles in postpartum were significantly associated with BMI of pre-pregnancy, weight gain during pregnancy and weight reduction after delivery. In addition, pregnancy-related HTN was highly associated with abnormal HDL level, and GDM was associated with abnormal TG level in the early postpartum period.

7.
Diagnostics (Basel) ; 13(4)2023 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-36832068

RESUMO

Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader-Willi syndrome (PWS), we aim to describe the need for additional prenatal diagnostic testing for confirming UPD in fetuses diagnosed with RATs via NIPT and its clinical implications. NIPT was performed using the massively parallel sequencing (MPS) method, and all pregnant women with RATs underwent amniocentesis. After confirming the normal karyotype, short tandem repeat (STR) analysis, methylation-specific PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were performed to detect UPD. Overall, six cases were diagnosed with RATs. There was a suspicion of trisomies of chromosomes 7, 8, and 15 in two cases each. However, these cases were confirmed to have a normal karyotype using amniocentesis. In one of six cases, PWS caused by maternal UPD 15 was diagnosed using MS-PCR and MS-MLPA. We propose that in cases where RAT is detected by NIPT, UPD should be considered following trisomy rescue. Even if amniocentesis confirms a normal karyotype, UPD testing (such as MS-PCR and MS-MLPA) should be recommended for accurate assessment, as an accurate diagnosis can lead to appropriate genetic counseling and improved overall pregnancy management.

8.
Matern Child Health J ; 27(1): 111-116, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36352289

RESUMO

OBJECTIVES: To assess the risk gradient of chromosomal abnormalities and fetal or neonatal death across a socioeconomic spectrum of pregnant women. METHODS: We used the data from the Korean Prenatal Diagnosis Study (KPDS), which included singleton pregnancies who were candidates for fetal aneuploidy screening enrolled from the Seoul Capital Area from December 2016 to April 2018. We analyzed chromosomal abnormalities which were diagnosed pre- or postnatally, and fetal or neonatal death. The highest level of education among the women and the average monthly household income were used as proxies for socioeconomic status. RESULTS: Among the 6,715 women, the majority of were 30-39 years old and university graduates, with a reported household income higher than the national median. Chromosomal abnormalities occurred in 45 women (6.7 per 1,000). Fetal or neonatal death occurred in 70 (11.3 per 1,000), excluding pregnancies affected by chromosomal abnormality diagnosis. The adjusted odds ratio for chromosomal abnormalities was higher when household income was < 4,484 USD per month. For fetal or neonatal death, the risk estimates for lower education and lower household income were generally positive but remained imprecise. CONCLUSION: We observed some evidence of an inverse association between the risk of fetal chromosomal abnormality and level of household income in a prospective cohort of pregnant women. Interventions to reduce socioeconomic disparities in perinatal health should focus on those with a low household income.


Assuntos
Morte Perinatal , Recém-Nascido , Gravidez , Feminino , Humanos , Adulto , Estudos Prospectivos , Cuidado Pré-Natal , Aberrações Cromossômicas , Morte Fetal , Classe Social
9.
Int J Mol Sci ; 23(23)2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36499318

RESUMO

The risk of chromosomal abnormalities in the child increases with increasing maternal age. Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal screening method, the accuracy of the test results needs to be improved owing to various testing conditions. We attempted to achieve a more accurate and robust prediction of chromosomal abnormalities by combining multiple methods. Here, three different methods, namely standard Z-score, normalized chromosome value, and within-sample reference bin, were used for 1698 reference and 109 test samples of whole-genome sequencing. The logistic regression model combining the three methods achieved a higher accuracy than any single method. In conclusion, the proposed method offers a promising approach for increasing the reliability of NIPT.


Assuntos
Aberrações Cromossômicas , Diagnóstico Pré-Natal , Gravidez , Feminino , Criança , Humanos , Reprodutibilidade dos Testes , Diagnóstico Pré-Natal/métodos , Idade Materna , Trissomia , Aneuploidia
10.
Nutrients ; 14(17)2022 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-36079763

RESUMO

Anemia during pregnancy is known to be associated with an increased risk of antenatal and/or postnatal depression, as well as adverse pregnancy outcomes. However, there are few studies evaluating psychological health throughout the antepartum and postpartum periods in women with anemia in early pregnancy. This study analyzed data collected by the Korean Pregnancy Outcome Study, a multicenter prospective cohort study conducted in South Korea, to determine the impact of anemia during the first trimester on birth outcomes and maternal mental health during pregnancy and postpartum. Hemoglobin levels were measured during the first trimester, and psychological health was evaluated at 12, 24, and 36 gestational weeks and 4−6 weeks postpartum. Anxiety and depression were defined using the Hospital Anxiety and Depression Scale and the Edinburgh Postnatal Depression Scale, respectively. Among 4067 Korean participants, 119 (2.9%) were diagnosed with anemia during the first trimester. Incidences of anxiety and depression did not differ over the pregnancy period between those with and without anemia during the first trimester. However, postpartum anxiety and depression were significantly more common in participants with anemia than in those without (p < 0.05, both). Hence, obstetricians should pay attention to postpartum mental health in women with anemia during the first trimester.


Assuntos
Anemia , Complicações na Gravidez , Anemia/epidemiologia , Ansiedade/psicologia , Depressão/psicologia , Feminino , Humanos , Saúde Mental , Gravidez , Complicações na Gravidez/diagnóstico , Primeiro Trimestre da Gravidez , Estudos Prospectivos
11.
Diagnostics (Basel) ; 13(1)2022 Dec 23.
Artigo em Inglês | MEDLINE | ID: mdl-36611330

RESUMO

The purpose of our study is to compare the maternal and neonatal outcomes of induction of labor (IOL) versus expectant management at 39 weeks of gestation. We conducted a single-centered, prospective, observational study of nulliparous singleton women at 39 weeks or more. We compared the maternal and perinatal outcomes. Of 408 nulliparous women, 132 women were IOL group and 276 women were expectant management group. IOL and expectant group had similar cesarean delivery rate (18.2% vs. 15.9%, p = 0.570). The delivery time from admission was longer in IOL group (834 ± 527 vs. 717 ± 469 min, p = 0.040). The IOL group was less likely to have Apgar score at 5 min < 7 than in expectant group (0.8% vs. 5.4%, p = 0.023). Multivariate analysis showed that IOL at 39 weeks was not an independent risk factor for cesarean delivery (relative risk 0.64, 95% confidence interval: 0.28−1.45, p = 0.280). Maternal and neonatal adverse outcomes, including cesarean delivery rate, were similar to women in IOL at 39 weeks of gestation compared to expectant management in nulliparous women. IOL at 39 weeks of gestation could be recommended even when the indication of IOL is not definite.

12.
Front Med (Lausanne) ; 9: 1063480, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36590946

RESUMO

We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosome Z-score = 3.6]. The patient underwent quantitative fluorescent (QF)-PCR and karyotyping at 14 + 0 weeks of pregnancy through CVS showing mosaicism of 47, XX, + 21[11] and 46, XX [39] in karyotyping. The patient underwent amniocentesis at 15 + 6 weeks, showing a normal pattern in QF-PCR and 46, XX karyotyping in long term culture. The second case underwent NIPT at 16 + 5 weeks of pregnancy (FF = 7.52%, 21 chromosome Z-score = 2.503). She underwent an invasive test at 19 weeks through amniotic fluid sampling. As a result, trisomy 21 was detected by QF-PCR, and mosaicism of XX, +21[22]/46, XX [4] was identified by karyotyping. Despite significant advances in fetal chromosome analysis using NIPT, invasive testing is still needed as placenta-derived DNA does not reflect 100% fetal genetic information. Placental mosaicism can be detected by NIPT, but more research is needed to increase its sensitivity. Therefore, if the NIPT result is positive, an invasive test can confirm the result, and continuous monitoring is required even if the NIPT result is negative.

13.
J Pers Med ; 13(1)2022 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-36675683

RESUMO

Trophoblasts retrieval and isolation from the cervix (TRIC) is a non-invasive method which enables analysis of fetal genetic information from the extravillous trophoblast cells (EVTs). The aim of this study was to compare the efficacy of the HLA-G antibodies­G233 and 4H84­in isolating EVT cells and provide an optimized protocol of TRIC. We analyzed EVTs from 23 pregnant women in between 5 to 20 weeks of gestation who underwent invasive prenatal testing. Two HLA-G antibodies­G233 and 4H84­were used in a subgroup of 11 and 12 samples for immunomagnetic isolation. Cells with ß-hCG expression were counted to compare the rate of isolated trophoblast cells. The rate of ß-hCG positive cells was significantly different between the G233 and the 4H84 by immunefluorescence microscopy (p < 0.001). The percentage of ß-hCG expressing cells in G233 and 4H84 groups were 62.4 ± 8.24% and 82.6 ± 7.1%, respectively (p < 0.001). The average fetal cell positive rate was 14.1 ± 3.78 in the G233 group while it was 25.8 ± 3.9 in the 4H84 group by fluorescence in situ hybridization (FISH) (p = 0.011). Immunoisolation of trophoblast cells using 4H84 HLA-G antibody was more efficient in capturing EVT cells than using G233 for successful clinical application of TRIC.

14.
J Korean Med Sci ; 36(44): e281, 2021 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-34783214

RESUMO

BACKGROUND: People are generally considered overweight and obese if their body mass index (BMI) is above 25 kg/m² and 30.0 kg/m², respectively. The World Health Organization proposed stricter criteria for Asians (≥ 23 kg/m²: overweight, ≥ 25 kg/m²: obese). We aimed to verify whether this criteria could predict adverse pregnancy outcomes in Korean women. METHODS: We included 7,547 Korean women from 12 institutions enrolled between June 2016 and October 2018. Women with no pre-pregnancy BMI data, not Korean, or lost to follow-up were excluded, leaving 6,331. The subjects were categorized into underweight, normal, overweight, class I obesity, and class II/III obesity based on a pre-pregnancy BMI of < 18.5, 18.5-22.9, 23.0-24.9, 25.0-29.9, and ≥ 30.0 kg/m², respectively. RESULTS: Overall, 13.4%, 63.0%, 11.8%, 9.1%, and 2.6% of women were underweight, normal, and overweight and had class I obesity and class II/III obesity, respectively. In the multivariable analysis adjusted for maternal age, a higher BMI significantly increased the risk of preeclampsia, gestational diabetes, preterm delivery caused by maternal-fetal indications, cesarean section, large for gestational age, and neonatal intensive care unit admission. CONCLUSION: Adverse pregnancy outcomes started to increase in those with a pre-pregnancy BMI ≥ 23.0 kg/m² after adjusting for maternal age. The modified obesity criteria could help predict adverse pregnancy outcomes in Koreans.


Assuntos
Obesidade/patologia , Resultado da Gravidez , Adulto , Povo Asiático , Peso ao Nascer , Índice de Massa Corporal , Cesárea/estatística & dados numéricos , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/etiologia , Feminino , Idade Gestacional , Humanos , Obesidade/complicações , Razão de Chances , Pré-Eclâmpsia/diagnóstico , Pré-Eclâmpsia/etiologia , Gravidez , Gestantes , Nascimento Prematuro , República da Coreia , Fatores de Risco
15.
Int J Mol Sci ; 22(20)2021 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-34681861

RESUMO

Preeclampsia is a complex hypertensive disorder in pregnancy which can be lethal and is responsible for more than 70,000 maternal deaths worldwide every year. Besides the higher risk of unfavorable obstetric outcomes in women with preeclampsia, another crucial aspect that needs to be considered is the association between preeclampsia and the postpartum cardiovascular health of the mother. Currently, preeclampsia is classified as one of the major risk factors of cardiovascular disease (CVD) in women, which doubles the risk of venous thromboembolic events, stroke, and ischemic heart disease. In order to comprehend the pathophysiology behind the linkage between preeclampsia and the development of postpartum CVD, a thorough understanding of the abnormal uteroplacental vascular remodeling in preeclampsia is essential. Therefore, this review aims to summarize the current knowledge of the defective process of spiral artery remodeling in preeclampsia and how the resulting placental damage leads to excessive angiogenic imbalance and systemic inflammation in long term CVD. Key molecular factors in the pathway-including novel findings of microRNAs-will be discussed with suggestions of future management strategies of preventing CVD in women with a history of preeclampsia.


Assuntos
Doenças Cardiovasculares/etiologia , Placenta/irrigação sanguínea , Pré-Eclâmpsia/fisiopatologia , Útero/irrigação sanguínea , Autoanticorpos/sangue , Autoanticorpos/imunologia , Feminino , Humanos , MicroRNAs , Período Pós-Parto , Pré-Eclâmpsia/genética , Pré-Eclâmpsia/metabolismo , Gravidez , Espécies Reativas de Oxigênio/metabolismo , Receptor Tipo 1 de Angiotensina/imunologia , Remodelação Vascular
16.
Taiwan J Obstet Gynecol ; 60(3): 570-573, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33966752

RESUMO

OBJECTIVE: Dystrophinopathy is an X-linked recessive muscular dystrophy caused by mutations in the DMD gene. Herein we describe the prenatal detection of DMD gene mutations in a patient with no family history, by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS). CASE REPORT: A 41-year-old woman underwent NIPS owing to an advanced maternal age. A copy number variation was detected in the maternal X chromosome, and uninformative results were obtained for the fetal sex chromosomes. Following amniocentesis, a duplication was identified in exons 1-29 of the dystrophin gene by MLPA. After interviewing her family members it was confirmed that the patient is a de novo carrier of DMD duplications, and her daughter is a carrier of the same mutation. CONCLUSION: his is the first case report to describe the prenatal diagnosis of duplications in the DMD gene by MLPA following NIPS in a patient with no family history.


Assuntos
Distrofina/genética , Reação em Cadeia da Polimerase Multiplex , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Teste Pré-Natal não Invasivo , Adulto , Amniocentese , Variações do Número de Cópias de DNA , Éxons/genética , Feminino , Genes Duplicados , Humanos , Distrofia Muscular de Duchenne/embriologia , Gravidez , Primeiro Trimestre da Gravidez/genética
17.
Int J Mol Sci ; 22(5)2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33807645

RESUMO

The amniotic fluid (AF) is a complex biofluid that reflects fetal well-being during development. AF con be divided into two fractions, the supernatant and amniocytes. The supernatant contains cell-free components, including placenta-derived microparticles, protein, cell-free fetal DNA, and cell-free fetal RNA from the fetus. Cell-free mRNA (cfRNA) analysis holds a special position among high-throughput analyses, such as transcriptomics, proteomics, and metabolomics, owing to its ease of profiling. The AF cell-free transcriptome differs from the amniocyte transcriptome and alters with the progression of pregnancy and is often associated with the development of various organ systems including the fetal lung, skin, brain, pancreas, adrenal gland, gastrointestinal system, etc. The AF cell-free transcriptome is affected not only by normal physiologies, such as fetal sex, gestational age, and fetal maturity, but also by pathologic mechanisms such as maternal obesity, and genetic syndromes (Down, Edward, Turner, etc.), as well as pregnancy complications (preeclampsia, intrauterine growth restriction, preterm birth, etc.). cfRNA in the amniotic fluid originates from the placenta and fetal organs directly contacting the amniotic fluid as well as from the fetal plasma across the placenta. The AF transcriptome may reflect the fetal and placental development and therefore aid in the monitoring of normal and abnormal development.


Assuntos
Líquido Amniótico/metabolismo , Desenvolvimento Fetal , Feto/embriologia , Perfilação da Expressão Gênica , Placenta/metabolismo , Complicações na Gravidez/metabolismo , Transcriptoma , Feminino , Feto/patologia , Humanos , Placenta/patologia , Gravidez , Complicações na Gravidez/patologia
18.
Medicine (Baltimore) ; 100(8): e24681, 2021 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-33663078

RESUMO

ABSTRACT: We investigated the predictive value of the soluble fms-like tyrosine kinase-1 (sFlt-1)-to-placental growth factor (PlGF) ratio for poor neonatal outcomes of SGA neonates in the absence of preeclampsia.This prospective cohort study included 530 singleton pregnant women who attended a prenatal screening program at a single institution. The sFlt-1/PlGF values at 24 to 28+6 weeks and 29 to 36+6 weeks of gestation were analyzed and compared between control and SGA group (subdivided as with normal neonatal outcomes and with poor neonatal outcomes).After 22 preeclampsia cases were excluded, 47 SGA neonates and 461 control neonates were included. In the SGA group, 17 neonates had adverse neonatal outcomes (36.1%, 17/47). The mean (±D) sFlt-1/PlGF ratio of early third trimester was significantly higher in SGA with averse neonatal outcome group than in the control group (14.42 ±â€Š23.8 vs 109.12 3.96, P = .041) and the ratio retained an independent and significant association with SGA with adverse neonatal outcomes (odds ratio = 1.017, P = .01). A sFlt-1/PlGF ratio cut-off of 28.15 at 29 to 36+6 weeks significantly predicted adverse outcomes among SGA neonates (sensitivity = 76.9%, specificity = 88%).In this study, sFlt-1/PlGF ratio at 29 to 36 + 6wks of SGA with adverse neonatal outcome group was significantly higher than control group. This study suggests the feasibility of the sFlt-1/PlGF ratio as helpful objective measurement for predicting the adverse SGA neonatal outcome by providing sFlt-1/PlGF cut-off value.


Assuntos
Nível de Saúde , Recém-Nascido Pequeno para a Idade Gestacional , Fator de Crescimento Placentário/sangue , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/sangue , Adulto , Pressão Sanguínea , Índice de Massa Corporal , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos
19.
Int J Gynaecol Obstet ; 155(1): 125-131, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33454978

RESUMO

OBJECTIVE: To determine the association between insufficient sleep in the prenatal period and postpartum depression (PPD), and whether changes in sleep patterns during pregnancy increase the risk of PPD. METHODS: A prospective cohort study was conducted between March 2013 and November 2017. Participants completed a sleep questionnaire pre-pregnancy and at 12, 24 and 36 gestational weeks (GW). Depressive symptoms were assessed by the Edinburgh Postnatal Depression Scale (EPDS) at 4 weeks postpartum, and the cut-off score for PPD was 10 or more. RESULTS: Of 2512 participants, 410 (16.3%) were identified as having PPD. Only insufficient sleep at 36 GW was significantly associated with PPD after adjusting for confounding factors (odds ratio 1.79, 95% confidence interval 1.40-2.27, P < 0.001). Both Group 1 (change from sufficient to insufficient) and Group 3 (sustained insufficient) demonstrated a significant risk of PPD at all starting time-points in the multivariate analysis, but no significant association was evident between Group 2 (change from insufficient to sufficient) and PPD. CONCLUSION: Insufficient sleep at 36 GW was associated with a significant risk of developing PPD. Additionally, regardless of whether women had sufficient sleep, a shift towards worsening sleep at 36 GW was highly associated with PPD.


Assuntos
Depressão Pós-Parto , Depressão Pós-Parto/epidemiologia , Depressão Pós-Parto/etiologia , Feminino , Humanos , Gravidez , Estudos Prospectivos , República da Coreia/epidemiologia , Fatores de Risco , Privação do Sono
20.
J Epidemiol ; 31(6): 392-400, 2021 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-32595182

RESUMO

BACKGROUND: The Korean Pregnancy Outcome Study (KPOS) was established to investigate the determinants of adverse pregnancy outcomes among Korean women. METHODS: We recruited 4,537 pregnant women between 2013 and 2017 from two tertiary centers located in Seoul, Korea, and a total of 4,195 Korean women met inclusion criteria in the baseline analysis. A range of data on socio-demographics, past medical histories, reproductive information, health-related behaviors, psychological health and clinical information were obtained using interviewer-based questionnaires and clinical assessment at 12, 24, and 36 gestational weeks (GW), delivery and 6-8 weeks postpartum. Blood samplings were performed at 12, 24 and 36 GW, and placental tissues were obtained after delivery. The main outcome of this study was pregnancy-related complications including gestational diabetes mellitus (GDM), gestational hypertension, and screening positive for peripartum depression. Depression was assessed using the Korean version of the Edinburgh Postnatal Depression Scale, and a score of ≥10 indicated a positive screen for depression. RESULTS: Among 4,195 eligible pregnant women with a median age of 33.0 years, 3,565 (85.0%) pregnancy outcomes were available in this study, including 30 miscarriages, 16 stillbirths, and 3,519 deliveries. Mean gestational age was 38.8 GW, and mean birth weight was 3,236 gram. The prevalence of pregnancy complications of GDM, hypertensive disorders, and screening positive of depression during pregnancy and postpartum was 7.0%, 1.4%, 27.8%, and 16.6%, respectively. CONCLUSIONS: We designed KPOS to identify the determinants of pregnancy-related outcomes, and it may provide effective strategies for the prevention of pregnancy complications in Korean pregnant women.


Assuntos
Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Adulto , Estudos de Coortes , Feminino , Humanos , Gravidez , República da Coreia/epidemiologia , Fatores de Risco , Adulto Jovem
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