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1.
Artículo en Inglés | MEDLINE | ID: mdl-39143723

RESUMEN

AIM: In Japan, noninvasive prenatal testing (NIPT) has been performed by facilities accredited by the Japanese Society of Obstetrics and Gynecology since 2013. However, since 2016, with the implementation of NIPT, which can only be performed by blood sampling, non-obstetricians have been involved in prenatal testing. Therefore, in July 2022, a new government-involved NIPT certification system based on Health Sciences Council guidelines was introduced to ensure access to prenatal testing information for pregnant women. METHODS: This survey was conducted in February 2023 and was the first survey after the certification system implementation. We conducted a web-based survey of 1227 pregnant women and nursing mothers who underwent NIPT after July 2022 to evaluate their experiences. RESULTS: Respondents were categorized by certification status as certified (C: 56%), non-certified (non-C: 23%), or uncertain (Q: 20%). The C group with a higher mean age at examination (35.0 ± 4.5 years) paid lower examination fees, received longer pre- and post-examination explanations, and underwent more weekday examinations (80%) than the other groups. Most respondents, 67%, 48%, and 53% in the C, non-C, and Q groups, respectively (p < 0.0001), stated that "NIPT needs to be regulated by the government or academic societies." The non-C group was more likely to say, "Insufficient post-test explanations at the laboratory made me more anxious," than the other groups when the testing results were non-negative (p = 0.015). CONCLUSIONS: Despite government regulation, some pregnant women choose convenience over certified facilities, risking inadequate care. The government should ensure that NIPT is a safe option for all pregnant women.

2.
J Obstet Gynaecol Res ; 48(2): 328-332, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34918431

RESUMEN

AIM: This study aimed to assess the utility of ultrasound screening for pregnancies with positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. METHODS: We performed a retrospective analysis of positive noninvasive prenatal testing results and first-trimester ultrasound screening at our department between 2013 and 2019. Invasive genetic testing was performed if the patient had positive noninvasive prenatal testing results. Fetal ultrasound and cytogenetic data were collected. Noninvasive prenatal testing was performed in the women for advanced maternal age, nuchal translucency thickness, or history of abnormality in the previous child or relative. RESULTS: Forty-one pregnant women had positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Twenty-three women had positive results for trisomy 21, 13 had positive results for trisomy 18, and 5 had positive results for trisomy 13 at 11 to 14 weeks of gestation. The positive predictive value of noninvasive prenatal testing was 100% for trisomy 21, 84.6% for trisomy 18, and 100% for trisomy 13. The positive predictive value of positive noninvasive prenatal testing results and fetal morphological abnormalities was 100% for trisomy 21, trisomy 18, and trisomy 13. CONCLUSION: Combining an ultrasound examination with noninvasive prenatal testing resulted in a higher positive predictive value for trisomy 18. Normal ultrasound examination results can help alleviate stress caused by false-positive noninvasive prenatal testing results. In contrast, the positive predictive value and negative predictive value for trisomy 21 were not altered by adding an ultrasound examination to noninvasive prenatal testing.


Asunto(s)
Pruebas Prenatales no Invasivas , Niño , Femenino , Humanos , Medida de Translucencia Nucal , Embarazo , Primer Trimestre del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Ultrasonografía Prenatal
3.
Reprod Sci ; 29(3): 896-903, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34713432

RESUMEN

We examined the influence of confined placental mosaicism (CPM) as a cause of fetal growth restriction (FGR), and whether CPM can be screened using cell-free DNA (cfDNA) analysis of the maternal plasma. We analyzed cfDNA in the maternal plasma of 40 FGR cases with an estimated fetal weight of less than - 2.0 SD using massively parallel sequencing to detect chromosomal aberrations. Fetal and placental genotyping was performed to confirm CPM cases. cfDNA analyses of maternal plasma detected suspected CPM cases with chromosomal aneuploidy or copy number variations in 5 of 40 cases (12.5%). For 4 cases in which the entire placenta consisted of cells with chromosomal abnormalities, fetal growth was severely restricted. CPM can be screened by cfDNA analysis in maternal plasma, accounting for approximately 10% of the causes of moderate or severe FGR, and the higher the proportion of abnormal karyotype cells in the placenta, the more severe the placental dysfunction and FGR.


Asunto(s)
Ácidos Nucleicos Libres de Células/sangre , Retardo del Crecimiento Fetal/genética , Mosaicismo , Enfermedades Placentarias/genética , Adulto , Aneuploidia , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Cariotipificación , Embarazo , Diagnóstico Prenatal
4.
J Hum Genet ; 66(6): 579-584, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33268813

RESUMEN

Non-invasive prenatal testing (NIPT) is used worldwide to screen for fetal aneuploidy. Although previous studies on the psychosocial aspects of NIPT have focused on satisfaction regarding the test, we surveyed women who experienced negative emotions after receiving NIPT. From January 2018 to March 2019, we surveyed pregnant women whose NIPT results were negative, one year after the test. Of the 526 respondents, 35 (6.7%) regretted receiving NIPT and blamed themselves for taking it. We assigned this 6.7% of respondents to the negative emotion group. Although, 76.5% of the participants in the negative emotion group reported they would like to take NIPT for their next pregnancy, it was significantly lower as compared to the control group (92%). Furthermore, 31.9% of respondents in the control group reported that they would recommend similar tests to their relatives and friends. Conversely, in the negative emotion group, this proportion was lower at 17.1%. This suggests that guilt over testing may be meaningful. Thus, this study showed that some NIPT examinees regretted taking the test and blamed themselves. Respondents reported experiencing stress, anxiety, and depression even before NIPT affirming that it is important to address pregnant women's psychosocial status during pre-test genetic counseling.


Asunto(s)
Asesoramiento Genético , Pruebas Prenatales no Invasivas , Periodo Posparto/genética , Diagnóstico Prenatal , Adulto , Aneuploidia , Toma de Decisiones , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Síndrome de Down/patología , Femenino , Feto , Pruebas Genéticas/tendencias , Humanos , Embarazo , Encuestas y Cuestionarios , Adulto Joven
5.
Clin Case Rep ; 8(5): 867-871, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32477536

RESUMEN

Although noninvasive prenatal testing is not intended to identify maternal genomic information, it can provide other information that may lead to the incidental discovery of coexisting conditions including maternal malignancy.

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