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Background. The use of chromosomal microarray analysis (CMA) in prenatal diagnosis of chromosomal and genetic diseases has resulted in a significant improvement in the diagnosis of genetically caused congenital malformations, neurodevelopmental disorders, and congenital anomalies, with a high diagnostic yield in selected prenatal cases. Objective. The objective of this study was to evaluate the application of CMA in the prenatal diagnosis of high-risk pregnant women. Method. A total of 576 pregnancies were selected from May 2018 to October 2020 in our hospital, including amniotic fluid chromosome, karyotype analysis, and CMA detection. The study group was divided into two groups based on the indications for testing: group A has 88 patients at the age of 35 years or older, and group B patients were in high-risk pregnancies, which consisted of 33 cases of bad pregnancy history, 252 high-risk serological screenings, 70 high-risk non-invasive prenatal testing (NIPT), 65 cases of B-ultrasound indicated fetal development abnormalities or ultrasonic soft marker abnormalities, and 68 other cases of pregnant women or both who have genetic or chromosomal abnormalities. At last, we have an analysis of the detection rate from different testing methods. Results. Based on the follow-up test, 576 high-risk pregnant women showed an amniotic fluid chromosome karyotype rate of 18.1% (104/576), and the remaining 472 of these cases suffered a CNV ratio of 14.2% (67/472). 472 women of low clinical relevance are at 4.87% (23/472), 16 people showed a clear cause ratio = 3.39% (16/472), and 28 of the 472 (5.93%) cases showed polymorphism. Conclusions. In our study, CMA significantly improved the fetal detection rate and diagnosis rate in high-risk pregnant women, which proved to be a very useful method in the diagnosis of genetically caused neurodevelopmental disorders and congenital anomalies. The use of CMA in high-risk pregnant women is justified, and these women can detect an additional (3.40%, 16/472) of pathogenic microdeletions and microduplications in the cases. [ABSTRACT FROM AUTHOR]

Objective. Fetal growth restriction (FGR) affects 5% to 10% of newborns and is a major determinant of perinatal morbidity and mortality. Myocardial performance index (MPI), also known as the Tei index, is a useful, noninvasive, and Doppler-derived myocardial performance tool for fetal cardiac function evaluation. The purpose of the study is to evaluate ultrasonic prediction on FGR and postnatal outcomes using MPI and blood flow spectrum. Methods. This retrospective study included 240 pregnant women developing FGR and 240 healthy pregnant women. The blood flow spectrum of middle cerebral artery (MCA), umbilical artery (UA), and ductus venous including systolic to diastolic ratio (S/D), resistant index (RI), pulse index (PI), and peak ventricular systolic velocity/atrial contraction valley velocity (S/a) were examined using the GE Voluson E8 ultrasound system. Results. The MPI, S/D, RI, PI of UA, and S/a were all higher but S/D, RI, and PI of MCA were lower in the FGR group than those in the control group P < 0.001 . The MPI, S/D, RI, PI of UA, S/D, RI, PI of MCA, and ductus venous S/a yielded AUC of 0.813, 0.835, 0.791, 0.804, 0.789, 0.796, 0.803, and 0.784 when they were used to predict the incidence of FGR. Of note, the pregnant women with poor pregnancy outcomes exhibited higher values of MPI, S/D, RI, PI of UA, and S/a with lower scores of 1 min Apgar concomitant with lower values regarding S/D, RI, and PI of MCA than those with favorable pregnancy outcomes P < 0.001 . The MPI (r = −0.623), S/D (r = −0.660), RI (r = −0.601), PI (r = −630) of UA, and S/a (r = −0.573) shared negative correlations with 1 min Apgar scores P < 0.001 . Of note, the S/D (r = 0.562), RI (r = 0.597), and PI (r = 0.619) of MCA were positively correlated with 1 min Apgar scores P < 0.001 . It was revealed that the MPI, S/D, RI, PI of UA, S/D, RI, PI of MCA, and ductus venous S/a yielded AUC of 0.806, 0.833, 0.774, 0.788, 0.807, 0.729, 0.748, and 0.770 when they were used to predict the incidence of poor pregnancy outcomes for pregnant women developing FGR. Conclusion. Our study demonstrates good ultrasonic prediction on FGR and postnatal outcomes using MPI and blood flow spectrum. [ABSTRACT FROM AUTHOR]

Objective. To assess the clinical value of prenatal diagnosis using quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) for the examination of genomic imbalances in prenatal amniotic fluid samples from fetuses with a nuchal translucency (NT) greater than or equal to 2.5 mm. Materials and Methods. A total of 494 amniotic fluid samples and 5 chorionic villus samples were included in this study, with a fetal NT ≥ 2.5 mm at 11–13+6 weeks of gestation from November 2015 to December 2018. All cases were examined with QF-PCR, and those with normal QF-PCR results were then analyzed by CMA. Results. Of the 499 cases, common aneuploidies were detected by QF-PCR in 61 (12.2%) cases. One case of triploidy, one case of trisomy 21 mosaicism, and two cases of X/XX mosaicism were further confirmed by fluorescence in situ hybridization (FISH). Among the 434 cases with normal QF-PCR results, microarray detected additional pathogenic copy number variants (CNVs) in 4.8% (21/434) of cases. Six cases would have been expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving fifteen (3.5%, 15/428) cases with pathogenic CNVs only detectable by CMA. Pathogenic CNVs, especially those <10 Mb, were centralized in cases with an NT < 4.5 mm, including 5 pathogenic CNVs in cases with an NT of 2.5–3.5 mm and 7 pathogenic CNVs in cases with an NT of 3.5–4.5 mm. Conclusions. It is rational to use a diagnostic strategy in which CMA is preceded by a less-expensive, rapid method, namely, QF-PCR, to detect common aneuploidies. CMA allows for the detection of a number of pathogenic chromosomal aberrations in fetuses with an NT ≥ 2.5 mm. [ABSTRACT FROM AUTHOR]

Objectives. In this study, we aimed to demonstrate the perinatal and neonatal outcomes of patients who were diagnosed with neural tube defect (NTD) in the midtrimester fetal ultrasound scan and refused the request for termination of pregnancy. Material and Methods. The records of 69 patients, for whom NTD was detected in the midtrimester fetal ultrasound scan and who preferred the continuation of the pregnancy after comprehensive counselling about the possible prognosis and treatment options during the period between January 2011 and February 2016, were reviewed retrospectively. Results. Of these patients, 66.7% were 25–35 years old; 95.7% were multiparous; and 1.4% had a history of a fetus having NTD in previous pregnancies. There were 7 (10.1%) neonatal deaths in these patients. Meningomyelocele closure procedure was the most performed surgery in the postnatal period (92%). Of these patients, 30.7% had paraplegia; 51.6% had neurogenic bladder; and 6.4% had infections due to surgery. Conclusion. The results of this study demonstrated perinatal and neonatal outcomes of fetuses with NTD who were not terminated by the preference of the family in midtrimester. The experience of our centre would be beneficial as a tool for nondirective counselling of these patients when considering the antenatal/postnatal care options and postnatal prognosis. [ABSTRACT FROM AUTHOR]