ABSTRACT
Objective To investigate the diagnostic value of ultrasound scan at 16 to 18 gestational weeks in euploid fetuses with increased nuchal translucency (NT).Methods From January 2015 to June 2017,214 fetuses diagnosed with increased NT thickness (NT ≥ 3.0 mm) during early pregnancy in Guangzhou Panyu Central Hospital were enrolled.Fetal chromosome karyotype analysis was carried out prenatally.Those cases with normal karyotype underwent ultrasound scan at 16-18 and 20-24 gestational weeks and their outcomes were followed up via telephone.Descriptive statistics was used for statistical analysis.Results There were 198 out of the 214 cases undergoing chromosome karyotype analysis and among them,78 (39％) pregnancies were terminated due to chromosomal abnormalities.Out of the 107 cases with normal karyotype and successful followups,35％(37/107) had structural malformations.There were 19,11 and 6 cases of fetal structural malformations diagnosed at 11-13+6,16-18 and 20-24 weeks of gestational age,respectively,and the rest one was at 28 weeks.Structural deformities detected at 16-18 weeks included cleft lip and palate (n=2),cardiac malformations (n=2),spinal deformities (n=2),body deformities (n=2),diaphragmatic hernia (n=1),encephalocele (n=1) and left multicystic dysplastic kidney (n=1).About 91％ (70/77) of the fetuses with normal karyotype but without abnormal ultrasound findings at 16-18 weeks were free of structural malformations and achieved good pregnant outcomes.Conclusions Ultrasound screening at 16 to 18 weeks of pregnancy can be used to detect multiple structural malformations in fetuses with increased NT and normal karyotype,which may contribute to early detection of fetal structural malformations and help gravidas and their families make timely decisions.
ABSTRACT
Objective To investigate the clinical value of abnormal course of fetal superior mesenteric arteries (SMA) detected by ultrasound during the first trimester (11-13+6 weeks) in predicting congenital diaphragmatic hernia (CDH). Methods This study enrolled women who underwent fetal nuchal translucency (NT) screening during the first trimester in Central Hospital of Panyu District from March to December 2017. Low-speed high-definition flow imaging was used to observe the course of fetal SMA, and it was regarded as abnormal when the angle between SMA and abdominal aorta >90°. Once abnormal course of the SMA was suspected, the position of fetal thoracic cavity and abdominal organs would be scanned carefully. Furthermore, ultrasound examinations would be repeated at 16-18, 20-24, 28-32 and 37-40 weeks of gestation. Fetus diagnosed as CDH by ultrasound would be scheduled for MRI or autopsy to confirm the diagnosis. Pregnancy outcomes of all cases were followed up by telephone. Descriptive statistical analysis was used in this study. Results A total of 6 899 gravidas (6 964 fetuses) underwent NT scan during the first trimester were enrolled and the SMA of all fetuses were successfully displayed. Three cases with abnormal course of the SMA were identified. Two of them were diagnosed with left CDH at 17+ and 23+ weeks of gestation, which was confirmed by autopsy after termination of pregnancy, and the other one terminated pregnancy in first trimester due to a large omphalocele. Among the 6 961 fetuses with normal SMA, the pregnancy outcomes of 6 120 were successfully followed up, only one of which was found to have left CDH at 32 gestational weeks by ultrasound examination, and was later confirmed by neonatal MRI after delivery. No other fetal CDH was detected. Conclusions Abnormal course of the SMA identified in early pregnancy may be a simple and effective indicator for CDH that allow early intervention and treatment.