Persistent truncus arteriosus with absent semilunar valve in first trimester.

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.

Prenatal diagnosis of pulmonary atresia with ventricular septal defect.

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence.

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.

Localization of the fetal conus medullaris by oblique view extended imaging.

OBJECTIVE: To evaluate the accuracy of oblique view extended imaging (OVEI) in locating the position of the fetal conus medullaris. METHODS: One hundred and twenty-two normal fetuses and five counterparts with spinal bifida received prenatal ultrasound examination. The vertebral body at the terminal of the conus medullaris and the coronal section of over five vertebral bodies were reconstructed using OVEI. Development of the nervous system of normal fetuses was assessed at postnatal day 28. For spinal bifida cases, pathological examination was performed. RESULTS: Among 127 fetuses, the conus medullaris was accurately positioned in 120 (94.0%) cases according to OVEI. OVEI failed to locate the conus medullaris in three healthy fetuses due to obesity of the mother and four cases with spinal bifida due to abnormal fetal position. The conus medullaris was located at L3 or above in 115 healthy fetuses. The conus medullaris was positioned below L4 in five fetuses with spinal bifida, including L5 in two, S1 in two, and S3 in one, which was consistent with the findings of pathological examination. CONCLUSIONS: OVEI can display the 12th rib, T12, and conus medullaris simultaneously. OVEI is applicable to precisely locate the position of the conus medullaris and useful for prenatal evaluation of spinal bifida.

Prenatal diagnosis of Berry syndrome by fetal echocardiography: a case report.

We report a case in which Berry syndrome is diagnosed by fetal echocardiography. Fetal echocardiography showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were presented as a vascular complexity in the three vessels and pulmonary arterial branches view.

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.

[Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes].

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.

[Cytogenetic study of Down syndrome cases in Nanning, China].

To investigate the distribution and the characteristics of karyotypes in Down syndrome patients in Nanning city, China, Cytogenetic analysis was carried out in 500 cases clinically suspected for Down syndrome during 1994 to 2007. One hundred and thirty cases were diagnosed as Down syndrome in the panel of patients with karyotyping analysis. The prevalence distribution of chromosome abnormalities in Chinese Down syndrome patients in Nanning were 86.15% (112/130) cases with typical trisomy 21, 8.46% (11/130) cases with translocation, and 5.39% (7/130) cases with mosaic abnormal karyotype. The cases with trisomy 21 were approximately as twice as higher (1.8:1)in male than that in female patients. The percentage (93.08%) of Down syndrome babies born by younger mothers (<35 yr) was greater than that (6.92%) of the babies born by elder mothers (>35 yr). We concluded that males were more pronounced to be affected than females in Down syndrome cases in Nanning. Down syndrome cases with typical trisomy 21 karyotype were higher in Nanning than those with translocation or mosaic karotypes.