ABSTRACT
Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.
ABSTRACT
A sífilis congênita (SC) é um agravo prevenível, mas o Brasil ainda apresenta alta prevalência da doença, com consequente morbimortalidade perinatal. Objetivo: Avaliar a abordagem de sífilis em gestantes e seus recém-nascidos encaminhados para centro de referência. Métodos: Estudo transversal, de março de 2012 a abril de 2013. A coleta de dados foi realizada em prontuários de pacientes referenciados com SC, considerando critérios estabelecidos pelo Ministério da Saúde (MS). Os dados foram analisados pelo Statistical Package for the Social Sciences (SPSS) e o estudo foi aprovado pelo Comitê de Ética. Resultados: Um total de 31 recém-nascidos foi encaminhado devido à triagem materna com Venereal Disease Research Laboratory(VDRL) materno positivo durante a gestação, com 4 mulheres adequadamente tratadas. Treze recém-nascidos apresentaram alteração no hemograma e1 apresentou alteração óssea, 28 deles com tratamento adequado. Discussão: Quando se considera adequação de tratamento de acordo com as diretrizes nacionais, poucos casos de sífilis na gestação são considerados adequadamente tratados. Isso impacta na assistência ao recém-nascido, que, muitas vezes,é submetido a propedêutica invasiva e tratamento extenso, embora na maioria das vezes seja assintomático. Conclusão: O seguimento das recomendações para o tratamento da sífilis na gestante tem sido, frequentemente, considerado inadequado, o que dificulta a eliminação da SC.
Congenital syphilis (CS) is a preventable disease, but its prevalence is still high in Brazil, with consequent perinatal morbidity and mortality.Objective: To evaluate the approach of syphilis in pregnant women and their newborns referred to the referral center of Orestes Diniz, in Belo Horizonte.Methods: A cross-sectional study was carried out from March 2012 to April 2013. Data collection was performed on the medical records of patients referred with CS, considering the criteria established by the Ministry of Health. Data were analyzed using SPSS and the study was approved by the Ethics Committee. Results: A total of 31 newborns were referred due to a positive result in maternal testing with Venereal Disease Research Laboratory during pregnancy. However, only four women have been adequately treated in accordance with the Ministry of Health. Thirteen newborns presented alterations inblood cells count, one had bone rarefactions, and 28 presented proper information of treatment. Discussion: When considering the adequacy of treatmenta ccording to the national guidelines, few cases of syphilis during pregnancy can be considered adequately treated. This affects the assistance to the newborn,who is often subjected to invasive investigation and extensive treatment, although most are asymptomatic. Conclusion: The follow-up of recommendations for the treatment of syphilis in pregnant women has often been considered inadequate, making CS difficult to eliminate
Subject(s)
Humans , Pregnancy , Infant, Newborn , Syphilis, Congenital/therapy , Pregnancy , Epidemiology , Cross-Sectional Studies , Maternal Serum Screening TestsABSTRACT
Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.