ABSTRACT
Objective To investigate the clinical performance of ultrasound screening for fetal structural anomalies at 11-13+6 weeks of gestation and to evaluate the relation of structural anomalies with karyotypes and copy number variations. Methods A retrospective analysis was conducted on fetuses with structural anomalies detected by ultrasound examination at 11-13+6 gestational weeks in First Affiliated Hospital of Sun Yat-Sen University from January 2013 to December 2017. Karyotype and chromosomal microarray analysis(CMA) were offered to these fetuses and ultrasound scans were repeated at 16-18 gestational weeks. All fetuses were followed up to termination or birth. Fisher's exact test was used for statistical analysis. Results A total of 362 fetuses with structural anomalies were studied including 101 (27.9%) fatal malformations, 253 (69.9%) major malformations and eight (0.2%) minor malformations. Cardiac malformation (32.6%, 118/362), central nervous system anomalies (24.9%, 90/362) and anterior abdominal wall defects (20.9%, 76/362) were the three most common abnormalities. Invasive prenatal test was performed in 107 cases including 25 fatal, 79 major and three minor malformations. Thirty (28%) out of the 107 cases had abnormal karyotypes, which were chromosomal aneuploidies (n=28) and chromosomal fragment abnormalities (n=2). Among the 99 cases received CMA, 25 had abnormal karyotypes, and copy number variations were identified in eight [three (4.05%) were pathogenic variations] out of the rest 74 with normal karyotypes. The incidence of chromosomal abnormalities in fetuses with major malformations was higher than that of fetuses with fatal malformation [32.9% (26/79) vs 12.0% (3/25), P=0.045]. Altogether, 117 cases repeated second-trimester ultrasound among which 16 (13.7%) were normal; 19 (16.2%) had cardiac defect which was discordant with the first-trimester evaluation and five (4.2%) were found to have additional malformations. Diagnosis of the other 77 cases were consistent with the first-trimester ultrasound findings. After the second-trimester ultrasound scanning, 49 pregnancies were terminated; 39 twin pregnancies and four triplet pregnancies underwent selective fetal reduction; 25 continued to delivery with good neonatal outcomes. Out of the 23 699 cases without abnormal ultrasound findings at 11-13+6 gestational weeks, 20 182 (85.2%) were successfully followed up, among which structural abnormalities were found in 178 during the second trimester and in 31 after birth. Conclusions A detailed ultrasound examination at 11-13+6 weeks of gestation is important to identify fetal structural defects. However, it could not replace the second-trimester ultrasound. There is a high risk of chromosomal abnormalities in fetuses with early-detected structural defects. CMA is able to identify pathogenic copy number variations with a relatively low detection rate.
ABSTRACT
Objective To examine the predictive value of fetal umbilical artery Doppler in preterm birth in pregnant women with systemic lupus erythematosus(SLE).Methods The clinical data from 160 live births of SLE patients were analyzed retrospectively.Results The mean age of SLE patients at pregnancy was(29.7 ± 3.7) years(20 ~ 37 years). Totally,56 patients(32.5%)were preterm births and 76(47.5%)were full-term births without any other adverse pregnancy outcomes. The rate of preterm birth before 34 weeks was 26.9% and that was 73.1% for those preterm deliveries after 34 weeks. Iatrogenic preterm birth was the most common cause of preterm birth(32 cases),followed by spontaneous preterm birth(12 cases)and preterm premature rupture of membranes (10 cases).The pulsatility index(PI),resistance index(RI)as well as S/D value of SLE patients with pre-term delivery was higher than those of patients with full-term delivery(P<0.05).The area below the ROC curve for PI, RI and S/D was 0.6(95% CI 0.5~0.7),0.7(95% CI 0.6~0.8)and 0.6(95% CI 0.5~0.7),respectively.PI with cut-off value of 1.0 indicated the highest risk of preterm birth,with sensitivities of 34.6% and 84.2.The optimal cut-off value for RI and S/D was 0.7 and 2.8 respectivly,at which sensitivity and specificity had the best combination. Conclusions Pregnancies in lupus still have an increased risk of preterm birth. Umbilical artery Doppler was a useful monitoring tool for preterm birth in lupus pregnancies.