ObjectiveTo analyze the prenatal sonographic features of facial anomalies and evaluate the relationship between facial anomalies and increased nuchal translucency.MethodsPregnant women coming to Shenzhen Maternity and Child Healthcare Hospital afifliated to Nanfang Medical University between October 2008 and December 2012 for the 11th-13th+6 gestational week scanning were included in this study. Fetal facial region was evaluated by the technique of cross-sectional view of the fetal lateral ventricle with probe tilting. Comparative analysis was performed on autopsy and prenatal ultrasonograpgy. ResultsThe prenatal ultrasonic results of 10 518 fetus: 10 343 fetus (98.3%, 10 343/10 518) were conifrmed as facial normal with the technique of cross-sectional view of the fetal lateral ventricle with probe tilting at the ifrst trimester. Twenty-eight cases of facial malformation were conifrmed at the ifrst trimester (8 cases of cleft lip/plate, 14 cases of absence of nasal bone, 5 cases of holoprosencephaly facial feature and 1 cases of irregular facial cleft). Forty-nine cases of facial malformation were conifrmed by postnatal evaluation or autopsy (the incidence was 0.47%, 49/10 518 ). Twenty-one cases were misdiagnosed (11 cases of cleft lip/plate, 7 cases of ear deformity, 2 cases of micrognathia and 1 cases of irregular facial cleft). Ultrasonic soft marker: 34 cases were combined with abnormal soft marker (69.4%, 34/49), 22 cases of various kinds of facial malformation were combined with other structural deformity. Twenty-three cases were combined with increased nuchal translucency. Fourteen cases of absence of nasal bone were detected in the ifrst trimester, including twelve cases of increased nuchal translucency, six cases of structural deformity, two cases of chromosomal abnormalities (21-trisomy). Five cases of holoprosencephaly facial feature were detected in the first trimester, including three cases of increased nuchal translucency and structural deformity. Eight cases of cleft lip/plate were detected in the ifrst trimester, including ifve cases of increased nuchal translucency. One cases of irregular facial cleft were detected in the ifrst trimester, who was combined with structural deformity and increased nuchal translucency. Postpartum examination showed: there were 25 cases of simple facial anomaly, 22 cases were combined with structural deformity (9 cases of cardiac defect and 8 cases of holoprosencephaly), there were 2 cases of chromsomal abnormalities. The results showed that increased nuchal translucency had certain relationship with facial anomaly. The value of nuchal translucency of facial anomalies fetus was apparently higher than that of normal fetus and fetus with simply facial anomalies. There was no signiifcant difference between normal fetus and fetus with simply facial anomalies.ConclusionsFindings of holoprosencephaly and cardiac defects is a signiifcant clue for diagnosing facial anomalies. Fetuses with cleft palate/lip have an abnormal conifguration of the retronasal triangle. Cross-sectional view of the fetal lateral ventricle with probe tilting caudal slightly technique is an important method to screen fetal facial malformation in the ifrst trimester.

Objective To review the ultrasonographic evaluation on fetal facial anatomy and malformations in prenatal diagnosis. Methods Continuous 4 200 prenatal ultrasonographic evaluation during gestation age 14 40 weeks from August 2000 through June 2002 entered the present study. Routine coronal, sagittal and transverse planes were applied to scan the fetal facial structures after the fetal position was confirmed and/or adjusted. Results Superficial facial anatomic structures as well as the deep bony structures of the fetal faces were clearly displayed and correctly recognized on the three routine planes in 4 184 cases ( 99.62 %), but not the palate. Seventy eight facial malformations of 29 fetuses were correctly diagnosed. Whereas 9 malformations of 7 fetuses were missed to recognize, and 2 suspected cleft palate were demonstrated normal after delivery. The diagnoses were confirmed after subsequent labor or induced labor. The total detection rate reached 89.66 %. The false negative rate was 10.34 %, and the false positive rate was 0.05 %. The sensitivity, specificity, accuracy, positive and negative predictive values were 85.29 %, 99.95 %, 99.83 %, 93.55 % and 99.88 % respectively. Conclusions The majority of fetal facial superficial and deep structures is clearly demonstrated on prenatal ultrasonic imaging on the 3 routine scanning planes. Prenatal ultrasonographic evaluation of the fetal face is a reliable and accurate diagnostic modality so far as the skills become more sophisticated.

Objective To review the prenatal ultrasound features and clinical value of fetal micrognathia.Methods All 13 500 cases were scanned for fetal faces with routine transverse,coronal and sagittal planes during prenatal ultrasonography.Results Thirteen cases with micrognathia were detected by prenatal ultrasonography.Midsagittal and coronal scans of all fetuses with micrognathia demonstrated small mandible and receding chin and the lower lip reside posterior to the upper lip.All prenatal diagnosed fetuses micrognathia were confirmed by autopsy.Conclusions Prenatal ultrasonic diagnosis of fetal micrognathia relied on subjective evaluation of fetal profile on a midline sagittal and a coronal scan of fetal face.Micrognathia may be a clue or marker of chromosomal anomalies and syndrome.Prenatal detecting of micrognathia has important clinical value.

Objective To study the ultrasonographic clues and methods for fetal anomalies of the aorta arch and improve prenatal detection of anomalies of the aorta arch.Methods One thousand four hundred and seventy-two cases fetus who were carried out detailed scan and whose results were confirmed were chose as study objects.Every routine fetal echocardiography included four chamber and left and right outflow tract and three-vessel trachea view(3VT).The more views which included longitudinal and coronary view of the aorta arch and coronary view of the trachea and main bronchus were obtained when the abnormality of aorta arch was suspected.Results One hundred and forty-eight cases with anomalies of aorta arch were diagnosed by ultrasonography.One case was misdiagnosed.Ninety-two fetus with anomalies of aorta arch which included 28 aortic coarctation(CoA) and 10 interrupted aortic arch (IAA) and 52 right-side aortic arch and abnormal aortic branch and 2 double aortic arch were confirmed by postmortem or postnatal echocardiography and surgery.Of the 92 confirmed cases,24 had prenatally diagnosed additional complex intracardiac anomalies.All cases with CoA and IAA presented ventricular and/or great arterial disproportion with smaller left ventricle and aorta diameter on four chamber view and 3VT.Right aortic arch (RAA) and abnormal aortic branch(AAB) displayed aortic arch located on the right side of the trachea and increased distance between the aortic arch and arterial duct and abnormal aortic arch branch-subclavian artery originating from the beginning section of the descend aorta which coursed behind the trachea with U-shaped appearance on the 3VT plane.The display rate of the transverse and longitudinal and coronary view of the aorta arch was 98.4%,90.0%,81.9%,respectively.Conclusions Disproportional ventricular and /or great arterial with smaller left ventricle and aorta diameter are the clues for CoA and IAA.Increased distance between the aortic arch and arterial duct is the clue for RSA.The transverse view of the aortic arch 3VT is the most sensitive for detecting the anomalies of the aortic arch and the most easily be obtained.The longitudinal and coronary view of the aorta arch and coronary view of the trachea and main bronchus are helpful in differentiating the anomalies of the aortic arch.

Objective To investigate the clinical value of evaluation of fetal cardiac function in congenital heart disease by brain natriuretic peptide (BNP) and velocity vector imaging (VVI). Methods Fetuses who came from Shenzhen Maternity & Child healthcare Hospital were divided into the congenital heart disease group and the control group. At the same time we collected amniotic fluid and assayed BNP concentration. Using the VVI software, the velocity, strain and strain rate of the global and segmental of the left ventricle were measured. Comparison and correlation were made between the two groups. Results There was significantly difference of BNP concentrations in amniotic fluid between two groups. The gestational age had significant positive correlation with BNP concentrations in disease group. The comparison of global velocity, strain and strain rate of left ventricle between the two groups showed significant differences. All of the left ventricular dynamic parameters in disease group were lower than those of the control group. Conclusions Compared with the control group, the disease group had a high level of BNP in amniotic fluid and a lower level of dynamic parameters of left ventricular. There was a positive correlation between BNP concentration and gestational age in disease group. So we can conclude that theBNP concentration can be a biological parameter for evaluating the latent impairments of fetal cardiac function.

Objective To determine sonographic features and outcome of fetal lung abnormal lesions. Methods Blood supply of the lesion, fetus hydrops and other extra-lung anomalies should be evaluated by color Doppler flow image(CDFI) when abnormal lesion was detected in fetus lung during routine scanning. The fetus with lung abnormal lesion without hydrops at the first time scanning should be monitored by ultrasound in every four to six weeks. Results Forty cases fetus presented lung abnormal lesions, which included 21 cases with hyperechogenic solid masses,15 cases with cystic-solid mixture masses,4 cases with cystic masses. Lesions of 8 cases were demonstrated systemic arterial blood supply arising from the aorta on CDFI and the diagnosis of pulmonary sequestration (PS) were suggested. Seventeen cases lesion that had small size or decreased or disappeared or remained stable in size with gestational age developing had normal neonate. Conclusions CDFI is very useful in detecting abnormal lesion of the fetal lung and differentiating pathology and evaluating the prognosis. The outcome of isolated lung lesion without hydrops and mediastinal shift that decreased or disappeared or remained stable in size had a good prognosis.

Objective To explore the genetic characteristics of fetuses with congenital heart diseases(CHD)diagnosed by prenatal ultrasound.Methods Data of 613 singletons with prenatal ultrasonic diagnosed CHD were retrospectively analyzed.The cardiac structural abnormalities were classified into 8 types.Whole-exome sequencing(WES)was performed for 40 fetuses since chromosomal karyotyping analysis and/or chromosomal microarray analysis(CMA)showed benign copy number variations(CNV)or variants of uncertain significance(VUS).Results Among 613 fetuses,479 fetuses underwent both chromosomal karyotyping analysis and CMA,genomic abnormalities were detected in 60 fetuses(60/479,12.53％).Among 134 fetuses underwent only CMA,genomic abnormalities were found in 4 fetuses(4/134,2.99％).According to results of chromosomal karyotyping analysis and/or CMA,abnormalities were noticed in 40 fetuses(40/568,7.04％)among 568 fetuses with isolated CHD,while in 15 fetuses(15/45,33.33％)among 45 fetuses with non-isolated CHD,respectively.Abnormality detection rate of chromosomal karyotyping analysis and/or CMA in fetuses with complex CHD(10/41,24.39％)was higher than that in fetuses with non-complex CHD(54/572,9.44％).Among complex CHD fetuses,abnormality detection rate was the highest in fetuses with conotruncal defect(CTD)combined with malformation of venous system(4/13,30.77％),while among fetuses with non-complex CHD,situs inversus viscerum had the highest detection rate(1/4,25.00％).Among 40 fetuses chromosomal karyotyping analysis and/or CMA showed benign CNV or VUS,WES indicated pathogenic CNV/likely pathogenic CNV(P/LP)in 3 fetuses,VUS in 3 fetuses and benign CNV in 34 fetuses.Conclusion Fetuses with CHD,especially extracardiac malformations had possibilities of genomic abnormalities.Fetuses with CTD combined with malformation of venous system had higher possibilities of genomic abnormalities.Compared with CMA alone,chromosomal karyotyping analysis combined with CMA was helpful for detecting genomic abnormalities.

Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.