Fetal Open and Closed Spina Bifida on a Routine Scan at 11 Weeks to 13 Weeks 6 Days.

OBJECTIVES: This study aimed to determine the sensitivity of a first-trimester routine scan in detecting spina bifida (SB) and evaluating the first-trimester intracranial signs. METHODS: This retrospective study was a review of a prospectively collected database. All cases of SB diagnosed in a tertiary center from 2008 to 2015 were identified. The ultrasound images and medical records were reviewed. All cases of SB diagnosed prenatally were confirmed at birth or autopsy. RESULTS: A total of 24 cases of SB were diagnosed from 53,349 pregnancy cases. Except for 10 cases with a body stalk anomaly, craniorachischisis, or iniencephaly, 7 cases with open spina bifida (OSB) and 7 cases with closed spina bifida (CSB) were analyzed. The first-trimester detection rates were 100% (7 of 7) for OSB and 28.5% (2 of 7) for CSB. Eight cases were highly suspected of SB in the first trimester because of an abnormal appearance of the posterior brain; 3 were false-positive cases. Two isolated cases of OSB had first-trimester intracranial signs. An obliterated cisterna magna (CM) showed the highest sensitivity for OSB but low specificity. Two cases of OSB had no discernible landmark of intracranial translucency and the CM, and 4 showed normal intracranial translucency with an obliterated CM. All CSB cases were coupled with a normal hind brain except for 2 cases. CONCLUSIONS: A first-trimester routine scan has high sensitivity in screening for OSB. The CM may be the most sensitive intracranial sign.

Routine first-trimester ultrasound screening using a standardized anatomical protocol.

BACKGROUND: First-trimester ultrasound scans were introduced to China for nearly 20 years. The ability of first-trimester ultrasound screening to detect different malformations was variable. A recent systematic review concluded that the use of a standardized anatomic protocol was the most crucial factor to improve the sensitivity of first-trimester ultrasound screening for anomalies. Standardized sectional scans have long been used for routine anatomy screening during the second trimester. However, during the first trimester, most of the previous studies have described the observation of anatomic structures but have not specified clearly the standard sectional views. OBJECTIVE: We aimed to determine the performance of routine first-trimester scans using a standardized anatomic protocol for detecting structural abnormalities in China. STUDY DESIGN: This was a large retrospective study involving 59,063 sequential unselected pregnancies. Scans at 11 to 13+6 weeks were performed in a single center during a 7-year span. All fetuses were examined following a predefined protocol for standardized views. RESULTS: From October 2008 to December 2015, first-trimester scans were performed in 53,349 pregnant women with available outcome. Of these, there were 1578 (3%) pregnancies that presented with at least 1 fetal structural abnormality. The detection rate for first-trimester screening was 43.1% (95% confidence interval, 40.6%-45.5%). Routine first-trimester scans detected 95.6% of abdominal wall defects, 66.3% of nervous system defects, 33.8% of limbs and skeleton malformations, 30.8% of facial abnormalities, 21.2% of urogenital abnormalities, 18.4% of thoracic and lung abnormalities, and 4.1% of gastrointestinal tract abnormalities. During the first trimester, 37.7% of cardiac defects were identified and included 57.9% of major cardiac defects and 2.6% of mild cardiac defects. A robust high detection rate for anencephaly, exencephaly, cephalocele, holoprosencephaly, exomphalos, gastroschisis, Pentalogy of Cantrell, sirenomelia, and body stalk anomaly was achieved during routine first-trimester scans. CONCLUSION: A standardized anatomic protocol is advised when performing routine first-trimester ultrasound screening. It is recommended that screening for severe structural abnormalities should be extended to the first trimester.

Congenital abnormalities of the aortic arch: revisiting the 1964 Stewart classification.

The traditional classification of congenital aortic arch abnormalities was described by James Stewart and colleagues in 1964. Since that time, advances in diagnostic imaging technology have led to better delineation of the vasculature anatomy and the identification of previously unrecognized and unclassified anomalies. In this manuscript, we review the existing literature and propose a series of modifications to the original Stewart classification of congenital aortic arch abnormalities to incorporate this new knowledge. In brief, we propose the following modifications: (1) In Group I, we further divide subgroup B into left arch atretic and right arch atretic; (2) In Group II, we add three more subgroups, including aberrant right innominate artery, "isolated" right innominate artery (RIA), "isolated" right carotid artery with aberrant right subclavian artery; (3) In Groups I, II, and III, we add a subgroup of absence of both ductus arteriosus; and (4) In Group IV, we add three subgroups, including circumflex retro-esophageal aorta arch, persistent V aortic arch, and anomalous origin of pulmonary artery from ascending aorta.

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.

Sex Hormones Enhance Gingival Inflammation without Affecting IL-1ß and TNF-α in Periodontally Healthy Women during Pregnancy.

Hormones (progesterone and estradiol) change greatly during pregnancy; however, the mechanism of hormonal changes on gingival inflammation is still unclear. This study is to evaluate the effects of hormonal changes during pregnancy on gingival inflammation and interleukin-1ß (IL-1ß) and tumor necrosis factor-α (TNF-α) in gingival crevicular fluid (GCF). 30 periodontally healthy pregnant women were evaluated in the first, second, and third trimesters. 20 periodontally healthy nonpregnant women were evaluated twice (once per subsequent month). Clinical parameters including probing pocket depth (PPD), bleeding index (BI), gingival index (GI), clinical attachment level (CAL), and plaque index (PLI) were recorded. GCF levels of IL-1ß and TNF-α and serum levels of progesterone and estradiol were measured. From the data, despite low PLI, BI and GI increased significantly during pregnancy; however, no significant changes in PLI, CAL, IL-1ß, or TNF-α GCF levels were observed. Although IL-1ß, not TNF-α, was higher in pregnant group than in nonpregnant group, they showed no correlation with serum hormone levels during pregnancy. GI and BI showed significant positive correlation with serum hormone levels during pregnancy. This study suggests that sex hormone increase during pregnancy might have an effect on inflammatory status of gingiva, independent of IL-1ß and TNF-α in GCF.

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.

Ascorbic acid delivered by mesoporous silica nanoparticles induces the differentiation of human embryonic stem cells into cardiomyocytes.

Embryonic stem (ES) cells offer the potential to generate all cell types in the body, which provide a promising approach to repair tissue damage or dysfunction. In the past decade, great efforts have been made to induce the differentiation of ES cells into numerous types of cells, such as adipocytes, neurocytes and cardiomyocytes. However, the low differentiated efficiency and successful rate limit the development of induction of the differentiation of stem cells for tissue engineering. Here, we utilize ascorbic acid (AA)-loaded fluorescent TRITC-mesoporous silica nanoparticles (TMSN-AA) as a potential tool to induce the differentiation of human ES cells into cardiomyocytes. The treatment of human ES cells by TMSN-AA nanoplex arrests cell cycle at G1 phase and decreases the expression of stemness genes octamer-binding transcription factor 4 (OCT4) and sex determining region Y-box 2 (SOX2), which exhibits more significant induction efficiency of stem cell differentiation than the treatment by AA alone. Furthermore, we have tested the myocardial marker genes cardiac Troponin I (cTnI) and fetal liver kinase 1 (FLK-1), and found these genes are up-regulated by TMSN-AA nanoplex. Importantly, this work demonstrates the more efficient induction efficiency of human ES cells differentiation by the nanoparticle-drug formulation. Our studies reveal a novel approach based on MSNs as nanocarriers to induce the differentiation of human ES cells into cardiomyocytes efficiently and feasibly, and offer the potential perspectives for tissue engineering, eventually in clinical applications.

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.

Prenatal diagnosis of congenital vascular rings and slings: sonographic features and perinatal outcome in 81 consecutive cases.

OBJECTIVE: To describe the sonographic features and perinatal outcome of congenital vascular rings diagnosed prenatally at a single tertiary care institution. METHODS: All cases of congenital vascular rings diagnosed by prenatal ultrasound between July 2005 and December 2009 were identified at a single referral center using an established perinatal database. The diagnosis was confirmed by postnatal echocardiography for live-born infants or autopsy for terminated cases. RESULTS: The overall incidence of vascular ring during this 5-year period was 0.086% (81 cases among 94 321 women undergoing perinatal ultrasound examination). Forty-four cases had complete O-shaped (n = 3) or U-shaped (n = 41) vascular rings, and 37 cases had incomplete C-shaped vascular rings (vascular slings). The most common type of vascular ring seen in 50.6% (41/81) of cases was a right aortic arch with aberrant left subclavian artery. The second most common type was a left aortic arch with an aberrant right subclavian artery [39.5% (32/81)]. Chromosomal analysis was performed prenatally in 46 pregnancies, and six cases (13.0%) of fetal aneuploidy were identified. CONCLUSIONS: Congenital vascular rings can be diagnosed with prenatal ultrasound using the three-vessel trachea view and subsequent fetal echocardiography with particular attention to the relationship of the aortic arches, ductal arches, and the trachea.

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.

[Analysis of 993 cases of fetal malformations from 1999 to 2006].

OBJECTIVE: To study the value of prenatal ultrasound in the diagnosis of fetal malformations. METHODS: We retrospectively analyzed the clinical data of 993 cases of neonates and induced babies with malformations who were labored in our hospital from January 1999 to October 2006. RESULTS: The incidence rate of fetal malformation was 22.5 per thousand in our study group. The detection rate of prenatal ultrasound was 79.02% (1 062/1 344), among which the detection rate of the severe malformations (87.58%, 860/982) were significantly higher than that of the minor malformations (55.80%, 202/362) (P < 0.005). The false negative rate was high for the extremity malformations (39.46%) and facial malformations (31.91%), especially the acrosclerodermas, simple cleft palates, and ear deformities. CONCLUSION: Prenatal ultrasound is sensitive for fetal severe malformations, while the detection rate is low for fetal minor malformations.

Ultrasonographic evaluation of fetal facial anatomy (I): ultrasonographic features of normal fetal face in vitro study.

BACKGROUND: Because of lacking skills in scanning the normal fetal facial structures and their corresponding ultrasonic features, misdiagnoses frequently occur. Therefore, we studied the appearance features and improved displaying skills of fetal facial anatomy in order to provide basis for prenatal diagnosis. METHODS: Twenty fetuses with normal facial anatomy from induced labor because of other malformations except facial anomalies were immersed in a water bath and then scanned ultrasonographically on coronal, sagittal and transverse planes to define the ultrasonic image features of normal anatomy. The coronal and sagittal planes obtained from the submandibular triangle were used for displaying the soft and hard palate in particular. RESULTS: Facial anatomic structures of the fetus can be clearly displayed through the three routine orthogonal planes. However, the soft and hard palate can be displayed on the planes obtained from the submandibular triangle only. CONCLUSIONS: The superficial soft tissues and deep bony structures of the fetal face can be recognized and evaluated by routine ultrasonographic images, which is a reliable prenatal diagnostic technique to evaluate the fetal facial anatomy. The soft and hard palate can be well demonstrated by the submandibular triangle approach.

[Prenatal ultrasonographic evaluation of fetal limbs anatomy and fetal limbs malformations using a systematic continuous sequence approach].

OBJECTIVE: To review the value of ultrasonographic evaluation on fetal limbs anatomy and malformations in prenatal diagnosis using a systematic continuous sequence approach (SCSA). METHODS: Successive 4,932 prenatal ultrasonographic evaluation during gestation aging 14 - 40 weeks from August 2000 to September 2002 entered the present review. SCSA was applied to scan each limb of the fetus respectively. RESULTS: The anatomic structures of the four limbs of the fetus were clearly displayed and correctly recognized on ultrasonic images using the SCSA in 4 750 cases (96.3%). Ninety eight limb malformations of 34 fetuses were correctly diagnosed (87.2%). Whereas 16 malformations of 5 fetuses were missed to recognize (12.8%). The diagnoses were confirmed after subsequent labor or induced labor. The sensitivity, specificity, accuracy, positive and negative predictive values were 87.2%, 99.8%, 99.2%, 81.0% and 99.9%, respectively. CONCLUSION: The majority of fetal limb structures and malformations can be clearly demonstrated on prenatal ultrasonic imaging using SCSA. SCSA for prenatal ultrasonographic evaluation of the fetal limbs is a reliable and accurate diagnostic modality so far as the skills become more sophisticated.