Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies and cerebral palsy of unknown et...

A new myeloid cell line, MTO-94, was established from the bone marrow of a patient with myelodysplastic syndrome (MDS). MTO-94 cells matured in culture medium without the addition of growth factors, and yielded neutrophils with pseudo-Pelger Huët anomaly or hypersegmentation until 6 months. Ten months after the start of cell cultivation, MTO-94 consisted of myeloblasts. Surface phenotypes were ...

Background and Objective: Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy concomitant mechanical compression abdominal contents during fetal maturation. This in pulmonary hypertension, hypoplasia, cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are...

OBJECTIVES To investigate socioeconomic inequalities in outcome of pregnancy and neonatal mortality associated with congenital anomalies. DESIGN Retrospective population based registry study. SETTING East Midlands and South Yorkshire regions of England (representing about 10% of births in England and Wales). PARTICIPANTS All registered cases of nine selected congenital anomalies with poor...

OBJECTIVES The purpose of the study was to determine the accuracy of the prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies. BACKGROUND The accuracy of prenatal echocardiographic diagnoses of cardiac lesions has been reported, but no previous reports specifically address fetal conotruncal anomalies. METHODS Medical records of 61 fetuses, in which a feta...

one of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. we report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. chromosomal studies were performed on the basis of g-banding technique at high resolution and revealed 46, xx, t (16 6) (p12 q26) and 46, x...

Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...

BACKGROUND Chromosomal abnormalities frequently are associated with impairment or arrest of spermatogenesis in mammals but are compatible with fertility in female carriers of the same anomaly. In the case of trisomy, mice have extra genomic DNA as well as the chromosomal abnormality, usually present as an extra, unpaired chromosome. Thus, impairment of spermatogenesis in trisomic males could be...

Consider the following task [Task A] A prenatal test determines whether an unborn child has a chromosomal anomaly. A priori, namely, before undergoing the test, a pregnant woman has a 4% chance of having a child with the anomaly. If a woman has a child with the anomaly, there is a 75% chance that she has a positive test result. If she does not have a child with the anomaly, there is still a 12....