Background: Abnormal chromosome may be abnormal in number or structure of chromosomes related to normal chromosomes or sex chromosomes. One sign of abnormal chromosomes that we can observe during pregnancy is the abnormal ultrasound images. Objectives: To discover the relations between the chromosomal abnormalities and some fetal abnormalities determined by ultrasound. Subjects and method: A prospective descriptive study combined with a retrospective study on 250 pregnant women with fetal abnormalities from Aug 2006 to Aug 2008. Results: Among 250 pregnant women with fetal abnormalities determined by ultrasound taken amniocentesis, rate of late amniocentesis (over 20 weeks) was the highest (50.8%), while rate of ideal amniocentesis (16-20 weeks) only accounted for 29.6%. Abnormal chromosomal rate of multiple abnormalities of fetus statistically significant were higher than that of mono abnormal of fetus (46.8% vs. 18.5%/ p<0.0l). Conclusion: Abnormal phenotype determined by ultrasound; rate of chromosomal disorder was 27.2%.
chromosomal analysis ; fetal abnormalities

BACKGROUNDRight dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period.

METHODSFetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student's t-test or Mann-Whitney U-test depending on parametric or nonparametric nature of the data.

RESULTSOver a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival.

CONCLUSIONSThe study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes.

Echocardiography ; Female ; Fetal Diseases ; diagnosis ; Fetal Heart ; abnormalities ; Heart Ventricles ; abnormalities ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal

Spontaneous umbilical cord hematoma is a rare cause of fetal distress and intrauterine fetal death. The perinatal mortality rate approaches 50%. Various causes of the cord hematoma have been suggested as congenital abnormalities, short cord, trauma, cord around neck, torsion, syphilis, or postmature pregnancy. We have experienced one case of the fetal distress from umbilical cord hematoma, which is presented with a brief review of the literatures.
Congenital Abnormalities ; Fetal Death ; Fetal Distress* ; Hematoma* ; Neck ; Perinatal Mortality ; Pregnancy ; Syphilis ; Umbilical Cord*

OBJECTIVETo improve the diagnostic accuracy of fetal pulmonary venous abnormalities through the analysis of the fetal pulmonary vein anatomy.

METHODS234 cases of congenital cardiac abnormalities were detected by echocardiography during pregnancy in An Zhen Hospital, Capital Medical University from May 2010 to August 2015. Autopsy was then performed. The type of fetal pulmonary venous malformation, cardiac abnormalities, systemic venous malformations, and other internal organs deformities were documented.

RESULTSThere were ninteen cases of pulmonary venous malformations among the 234 cases of fetal congenital heart disease. These included two cases of congenital pulmonary venous hypoplasia (CPVH) or atresia, four cases of partial anomalous pulmonary venous drainage (PAPVD), seven cases of total anomalous pulmonary venous drainage (TAPVD), five cases of atresia of common pulmonary vein (CPV), one case of congenital pulmonary venous hypoplasia with total anomalous pulmonary venous drainage. There were eleven cases with single ventricle, eight cases with right aortic arch, seven cases with single atrium and six cases with pulmonary valve stenosis. Eleven cases had pulmonary hypoplasia and nine cases had abnormal spleen.

CONCLUSIONSThere are many variations in pulmonary venous abnormalities associated with severe and complex cardiac abnormalities and internal organs malformation. Care should be exercised during autopsy examination to look for all branches of the pulmonary vein.

Autopsy ; Female ; Fetal Diseases ; Heart Defects, Congenital ; diagnosis ; Humans ; Pregnancy ; Pulmonary Veins ; abnormalities ; Spleen ; pathology

Conjoined twins show varying degree of conjoining in either facing or side-by-side fashion. Cephalothoracopagus janiceps is a prototype of facing anomaly in which the two bodies demonstrated a cross symmetry to the midline, that is axial symmetry. Interfacial and intersternal lines crossed at a right angle and no abnormality of situs was associated. Dicephalus dipus dibrachius is a case of side-by-side union, in which the bodies facing nearly the same direction were symmetrical to the middle sagittal plane. Abnormal situs of one was always associated. Other types of conjoined twins as thoracopagus lie between the two extremes of facing and side-by-side union. The three dimensional architectures of the organs in each type would be explained using cross sectional figures of skull, thorax and pelvis. Although the facing twins share the internal organs without fusion, the organs in the side-by-side component are fused with modification of the situs. We postulate sixteen pairs of situs and four manners of division for the explanation of the midline organs and the presence of a dominant co-twin. The splenic locations in a given cardiopulmonary situs are evaluated for the appraisal and applicability of these hypotheses.
Embryonic and Fetal Development ; Female ; Humans ; Infant, Newborn ; Male ; Twins, Conjoined/*classification/embryology/pathology ; Viscera/abnormalities/embryology

Congenital malformations are one of the main topics, which must be addressed in the 21st century. Fetal surgery is expected to become a routine procedure for malformed fetal patients in the near future. This paper presents some important aspects of the embryological background required for fetal surgery and shows normal human embryos between the 4th and the 8th week of development.
Abnormalities/surgery ; Female ; *Fetal Development ; Fetus/*physiology/*surgery ; Gestational Age ; Human ; Pregnancy ; Pregnancy Trimester, First

OBJECTIVETo report a newborn infant who died of alveolar capillary dysplasia (ACD). The literature on about 20 cases of ACD was reviewed.

METHODSA retrospective review of records of infants from Medline with a diagnosis of ACD was carried out.

RESULTSThe case was a newborn female infant who developed respiratory distress 5 hours after an uncomplicated delivery. She died at the fourth day after birth despite full ventilatory support. The lung autopsy provided a diagnosis of ACD. In the 21 infants, 7 were male and 14 were female; 19 infants were born full-term and 2 were born pre-term. The birth weight of 19 infants and Apgar score of 15 infants were normal; 16 infants developed progressing tachypnea and cyanosis within 24 hours of age, 5 developed cyanosis at 1 day to 19 days. Echocardiography demonstrated a right to left shunt in the hearts of all the 21 infants, and pulmonary hypertension in 20 infants. Twenty infants were treated with conventional mechanical ventilation, 7 infants with high-frequency oscillatory ventilation and 12 infants with extracorporeal membrane oxygenation (ECMO). Fourteen infants were also treated with inhaled nitric oxide therapy and 4 with exogenous surfactant. Diagnostic open lung biopsy was performed in 6 infants. The chest radiography showed normal findings in 3 infants, pneumothoraces in 9 infants, reticular markings, granular, patchy or diffuse opacity in lungs of 7 infants, and decreased pulmonary vascular markings in two infants. All the 21 infants died; 8 of them died within 10 days of age, 7 within 30 days of age, and one died at the age of 4 months who was the longest survivor. Fourteen infants were associated with congenital malformations, such as cardiovascular, gastrointestinal, and genitourinary systems, including one infant associated with chromosomal abnormalities, two infants of familial genetic predisposition.

CONCLUSIONSAt present, ACD is still a disease with poor prognosis, significant medical expenses and no specific treatment. When respiratory failure or persistent pulmonary hypertension (PPHN) is persistent after routine treatment in an infant, ACD should be highly suspected and conventional open-lung biopsy should be preformed to confirm the diagnosis.

Female ; Humans ; Infant, Newborn ; Male ; Persistent Fetal Circulation Syndrome ; diagnosis ; pathology ; Pulmonary Alveoli ; abnormalities ; pathology

OBJECTIVEThis research was to compare the occurrence levels of birth defect, to describe the distribution of primary birth defects in different range of monitored ages and to provide data to China birth-defect monitoring system.

METHODSA retrospective study on birth defect was conducted in two counties, Shanxi province, China, which covered birth defects among fetuses after 20 weeks' gestational age from 2002 through 2004. Data collected on birth defect cases mainly included extrinsic and visceral anomaly.

RESULTSThe occurrence rates of the monitored structural birth defects significantly increased with the increase of age. The occurrence rates were 17.6, 34.0, 43.6, and 53.7 per 1000 births, for different statistical range, from 20-week to 27-week gestational age, 7 days, 1 year and 3 years after birth, respectively. The range from 28-week gestational age to 7 days after birth was usually regarded as the routinely monitored range. If the occurrence rate was calculated from the 20-week gestational age, it appeared a 2.1-time increase. However, if the range was changed to 1 or 3 years after birth, the occurrence rate increased to 2.7 or 3.3 times high, respectively. The distribution of time when birth-defect was identified was significantly different by categories with majority of neural tube defect cases diagnosed at antepartum or 7 days after birth. Visceral defects were mainly found at 7 days after birth but increased with age, even some were diagnosed at 1 year after birth.

CONCLUSIONThe routine Chinese monitoring program might detect approximately 1/3 of those structural birth defects with the base of current technique and monitoring range from 28-week gestational age to 7 days after birth. The result of our findings should be of help to other related studies.

Adult ; China ; epidemiology ; Congenital Abnormalities ; epidemiology ; Female ; Fetal Death ; epidemiology ; Fetal Mortality ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Prevalence ; Retrospective Studies

OBJECTIVE: To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses. MATERIALS AND METHODS: Prenatal fetal MR images were reviewed in seven fetuses with CHAOS at 21 to 27 weeks of gestation. The MRI findings were reviewed. The MRI parameters evaluated included the appearance of the lungs and diaphragm, presence or absence of hydrops, amount of amniotic fluid, airway appearance, predicted level of airway obstruction, and any additional findings or suspected genetic syndromes. RESULTS: All the fetuses viewed (7 of 7) demonstrated the following MRI findings: dilated airway below the level of obstruction, increased lung signal, markedly increased lung volumes with flattened or inverted hemidiaphragms, massive ascites, centrally positioned and compressed heart, as well as placentomegaly. Other frequent findings were anasarca (6 of 7) and polyhydramnios (3 of 7). MRI identified the level of obstruction as laryngeal in five cases and tracheal in two cases. In four of the patients, surgery or autopsy confirmed the MRI predicted level of obstruction. Associated abnormalities were found in 4 of 7 (genetic syndromes in 2). Postnatal radiography (n = 3) showed markedly hyperinflated lungs with inverted or flattened hemidiaphragms, strandy perihilar opacities, pneumothoraces and tracheotomy. Two fetuses were terminated and one fetus demised in utero. Four fetuses were delivered via ex utero intrapartum treatment procedure. CONCLUSION: MRI shows a consistent pattern of abnormalities in fetuses with CHAOS, accurately identifies the level of airway obstruction, and helps differentiate from other lung abnormalities such as bilateral congenital pulmonary airway malformation by demonstrating an abnormally dilated airway distal to the obstruction.
Abnormalities, Multiple ; Airway Obstruction/congenital/*pathology ; Ascites/pathology ; Diaphragm/abnormalities ; Female ; Fetal Diseases/*pathology ; Humans ; Lung/pathology ; *Magnetic Resonance Imaging ; Placenta Diseases/pathology ; Pregnancy ; *Prenatal Diagnosis ; Retrospective Studies

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.
*Abnormalities, Multiple/pathology ; Autopsy ; Central Nervous System/abnormalities ; Cerebral Hemorrhage/complications ; Female ; Fetal Diseases ; Herpes Simplex/complications ; Humans ; Hydrocephalus/complications/embryology/*etiology/pathology ; Infant, Newborn ; Male