[A prenatal ultrasound study of cerebral sulci and gyrus development in fetuses with tetralogy of Fallot].

OBJECTIVE: To evaluate the development of the cerebral sulci and gyrus and cerebral blood flow in fetuses with tetralogy of Fallot (ToF) in the second and third trimesters using ultrasound imaging. METHODS: Forty fetuses (23-33+6 weeks) with ToF diagnosed using ultrasound imaging between December, 2015 and September, 2016 were analyzed in this study. The development of the cerebral sulci and gyrus was evaluated by measuring the parietal-occipital fissure (POF) depth, POF angle, sylvian fissure (SF) depth, SF width, uncovered insular width, calcarine fissure (CF) depth, hemisphere depth on the views of POF, SF and CF, uncovered insular ratio, biparietal diameter (BPD), and head circumference (HC). Cerebral hemodynamics were assessed by measuring the umbilical artery resistance index, umbilical artery pulsation index, middle cerebral artery pulsation index (MCA-PI), middle cerebral artery resistance index, the cerebral-to-placental resistance ratio, and the cerebroplacental ratio. RESULTS: In ToF fetuses, the POF depth, SF depth, CF depth, BPD, HC and hemisphere depth on the views of parietal-occipital sulcus and calcarine sulcus were significantly smaller than those in the control group (P<0.05). The middle cerebral artery resistance index, middle cerebral artery pulsation index, the cerebral-to-placental resistance ratio and the cerebroplacental ratio were also significantly lower in ToF fetuses than in the control group (P<0.05). CONCLUSION: The cerebral sulci and gyrus in ToF fetuses in second and third trimesters show underdevelopment compared with those in normal fetuses, and the changes in hemodynamics caused by abnormal cardiac structure might be one of the reasons for cerebral sulci and gyrus underdevelopment in fetuses with ToF.

Ultrasonographic Characteristics of Cortical Sulcus Development in the Human Fetus between 18 and 41 Weeks of Gestation.

BACKGROUND: Fetal brain development is a complicated process that continues throughout pregnancy. Fetal sulcus development has typical morphological features. Assessment of fetal sulcus development to understand the cortical maturation and development by prenatal ultrasound has become widespread. This study aimed to explore a reliable method to assess cortical sulcus and to describe the normal sonographic features of cortical sulcus development in the human fetus between 18 and 41 weeks of gestation. METHODS: A cross-sectional study was designed to examine the fetal cortical sulcus development at 18-41 weeks of gestation. Ultrasound was used to examine the insula, sylvian fissure (SF), parieto-occipital fissure (POF), and calcarine fissure (CF). Bland-Altman plots were used for assessing the concordance, and the intraclass correlation coefficient was used for assessing the reliability. RESULTS: SF images were successfully obtained in 100% of participants at 22 weeks of gestation, while the POF images and CF images could be obtained in 100% at 23 weeks of gestation and 24 weeks of gestation, respectively. The SF width, temporal lobe depth, POF depth, and the CF depth increased with the developed gestation. The width of uncovered insula and the POF angle decreased with the developed gestation. By 23 weeks of gestation, the insula was beginning to be covered. Moreover, it completed at 35 weeks of gestation. The intra- and inter-observer agreements showed consistent reproducibility. CONCLUSIONS: This study defined standard views of the fetal sulcus as well as the normal reference ranges of these sulcus measurements between 18 and 41 weeks of gestation. Such ultrasonographic measurements could be used to identify fetuses at risk of fetal neurological structural disorders.

First-Trimester Echocardiographic Features and Perinatal Outcomes in Fetuses With Congenital Absence of the Aortic Valve.

OBJECTIVES: The purpose of this study was to describe the echocardiographic features and perinatal outcomes of congenital absence of the aortic valve diagnosed by first-trimester echocardiography. METHODS: This retrospective study assessed the feasibility of first-trimester echocardiography in detecting absence of the aortic valve. All cases of absence of the aortic valve diagnosed by first-trimester fetal echocardiography from January 2010 to December 2014 were identified at a single referral center using an established perinatal database. Demographic information, echocardiograms, perinatal outcomes, and autopsy reports were reviewed. Echocardiographic features were described. RESULTS: A total of 50,822 fetuses underwent first-trimester echocardiography during the study period. Ten cases of congenital absence of the aortic valve were diagnosed, for an overall incidence rate of 0.019%. The earliest gestational age at diagnosis was 11 weeks 6 days. The mean crown-lump length was 61.9 mm; mean gestational age was 12 weeks; and mean maternal body mass index ± SD was 21.2 ± 3.9 kg/m(2). Nine fetuses had increased nuchal translucency ranging from 2.4 to 12.4 mm (mean ± SD, 6.4 ± 3.6 mm). Color Doppler flow imaging revealed biphasic bidirectional flow in the ascending aorta and aortic arch and reversed flow in the ductus venosus during atrial systole in all cases. Reversed diastolic flow was present in the umbilical arteries and thoracic aorta. All cases had complex cardiac malformations as well as extracardiac abnormalities. CONCLUSIONS: Our study confirms that absence of the aortic valve is a rare cardiac defect that can be diagnosed by first-trimester fetal echocardiography. A "to-and-fro" flow pattern or biphasic bidirectional flow in the great arteries is a key echocardiographic feature in fetuses with absence of the aortic valve.

Routine screening for fetal limb abnormalities in the first trimester.

OBJECTIVE: We aim to determine the accuracy of first-trimester ultrasonography in detecting fetal limb abnormalities. METHODS: This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary-care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy. RESULTS: Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester (n = 12), followed by clubfoot (n = 4), skeletal dysplasia (n = 3), sirenomelia (n = 1), limb dysplasia (n = 1), malposition (n = 1), and syndactyly (n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT. CONCLUSIONS: This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation.

Prenatal diagnosis and perinatal outcome of congenital dacryocystocele: a large case series.

OBJECTIVE: To describe the incidence, prenatal diagnosis, and perinatal outcome in fetuses with congenital dacryocystocele. METHODS: All cases of congenital dacryocystocele diagnosed by prenatal ultrasound were identified using an established perinatal database. Prenatal ultrasound images were reviewed, and perinatal outcome was abstracted from the medical records. The correlation between the cyst size, gestational age, and prenatal and neonatal outcome was analyzed. RESULTS: The overall incidence of fetal dacryocystocele was 0.016% (75/456,202). Fifty-three cases (70.7%) had unilateral, and 22 (29.3%) had bilateral lesions. Lesions were seen more commonly among female fetuses with a female : male ratio 1.48 : 1. The average diameter of cysts size was 6.9 ± 1.9 mm (3.3-11 mm). There was a direct correlation between cyst size and gestational age. Among the 75 cases, 8 were lost to follow-up, 3 underwent elective termination of pregnancy. 58 resolved spontaneously before birth, and 6 were confirmed at birth. Two developed neonatal infection requiring antibiotic treatment. All 6 cases confirmed at birth resolved without surgical resection. CONCLUSIONS: Congenital dacryocystocele can be diagnosed by prenatal ultrasound. Such lesions typically resolve spontaneously in utero or in the early neonatal period. Thus, it should be considered as a developmental variant rather than a structural birth defect.

[Ultrasound measurement of fetal posterior fossa at 11 to 13⁺6 gestational weeks for screening open spina bifida].

OBJECTIVE: To establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13⁺6 gestational weeks and explore their clinical value in screening open spina bifida (OSB). METHODS: Between January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13⁺6 weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges. RESULTS: In normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL; the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1. CONCLUSION: The established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical-cisterner magena anteroposterior diameter ratio greater than 1 can be indicative of OSB at 11 to 13⁺6 gestational weeks.

Prenatal diagnosis of diastematomyelia: a case report and review of the literature.

Diastematomyelia is a rare congenital disorder in which the spinal cord is divided longitudinally for part of its length. It can be accurately identified in the prenatal period by detailed sonographic examination of the spine. We report a case of diastematomyelia localized to spinal levels T6-T9 diagnosed prenatally at 31 weeks' gestation and review the existing literature on the diagnosis and management of this condition during pregnancy.

[Perinatal management and outcome of different types of fetal arrhythmia].

OBJECTIVE: To evaluate the perinatal management and outcome of different types of fetal arrhythmia. METHODS: A retrospective analysis was conducted among the fetuses with arrhythmia identified by M-mode and pulsed Doppler echocardiography in a single institution between October 2003 and December 2010. RESULTS: A total of 130 fetuses were found to have fetal arrhythmia. The most common arrhythmia during pregnancy was extrasystole (n=59), followed by bradycardia (n=23), tachycardia (n=16), atrial flutter (AF, n=3), atrioventricular block (AVB, n=12) and other arrhythmia (n=17). The overall incidence of cardiac anomalies (commonly fetal bradycardia) was 9.2% in these cases. The prognosis of arrhythmia differed significantly between cases of different classifications. The type of fetal arrhythmia (P=0.024), presence of congenital heart defect (CHD, P=0.000) and fetal hydrops (P=0.008) were significant risk factors associated with termination of pregnancy. CONCLUSION: Fetal arrhythmias without CHD or hydrops under close monitoring often have good clinical outcome, while fetal bradycardia is associated with a high mortality rate. CHD and the presence of fetal hydrops are significant risk factors for pregnancy termination.

Prenatal diagnosis of unilateral pulmonary dysplasia.

Pulmonary hypoplasia is a rare congenital disorder; most cases occur in association with other congenital abnormalities, including congenital diaphragmatic hernia, oligohydramnios, and/or skeletal deformities. The authors report a case of unilateral pulmonary hypoplasia diagnosed prenatally and confirmed at autopsy.