[Seventeen years experience in precise diagnosis and prenatal diagnosis of mucopolysaccharidoses [MPS]]

Upon a scientific collaboration, families having affected offspring suspected for MPS disease were enzymaticaly analyzed. In 82 families the deficit enzymes were detected. Seventy prenatal diagnosis for parous at risk were performed, revealing 53 unaffected and 17 affected fetuses. All families with affected fetuses opted for pregnancy termination. The prenatal result of unaffected newborns confirmed the prenatal diagnosis findings. The summary of clinical findings and epidemiological distribution of MPS disorders and PND results are presented in this short report

Comparison of early and mid-trimester amniocentesis in 1459 amniotic fluid cultures

Early amniocentesis is a new context in prenatal diagnosis. However, the consequences of this procedure are not known clearly. We compared cytogenetic results of 655 amniotic fluid samples obtained at 12-14 gestational weeks [early amniocentesis, EA] and 804 samples at 15-18 gestational weeks [mid-trimester amniocentesis, MA]. The rate of chromosomal abnormalities for early amniocentesis was 3.2% [21 cases] and for mid-trimester amniocentesis was 5.3% [43 cases] [p=0.047]. True mosaicism was seen in 2 cases MT group [p=1.000]. We did not have maternal cell contamination in either group. The ratio of repeat amniocentesis was 0.6 percent in the EA group compared with 0.2 percent in MA group [p=0.417]. Procedure-related early abortion [within the first 30 days after amniocentesis] was seen in 4 cases of EA [2.2%] and 3 cases of MA [1.5%] [p=0.719]. Hemorrhage occured in the same ratio. Intra-uterine fetal death [IUFD] was seen in 7 cases of MA, but not in any cases of EA [p=0.015]. Our findings showed comparable outcome in two method of amniocentesis, except for lower chromosomal abortion rate and IUFD

Freeman-Sheldon syndrome: report of 6 cases

Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS [Freeman-Sheldon Syndrome] is also known as craniocarpotarsal dysplasia [or dystrophy], distal arthrogryposis type IIA [DAIIA], whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome is an autosomal dominant trait and characterized by flattened, mask-like facies, microstomia, protruding lips [as in whistling], deep-set eyes with hypertelorism, and camptodactyly with ulnar deviation of the fingers and talipes equinovarus. We are reporting 6 cases with this syndrome that were referred to our genetic center from 2000 to 2006 for cytogenetic study and clinical genetic counseling

case of complete tetraploidy in amniotic fluid culture with normal karyotype in the repeat

We report a case of complete tetraploidy in amniotic fluid culture obtained at 14 weeks of pregnancy. Amniocentesis was performed in this pregnancy because of high maternal age and history of offspring with meningomyelocele. Ultrasonography at that time, revealed a single fetus with normal fetal activity and heart beat. Amniotic fluid volume was normal. The amniotic fluid obtained was yellow and clear. It was cultured in two flasks. Growth was very slow in one culture with no growth in the other. Harvest was possible after 3 weeks which revealed tetraploidy in all studied plates. Alpha feto protein of amniotic fluid was 24.1 KIU/m [normal range 11.1-48, for 15 weeks]. A repeat culture was performed at 18 weeks of gestation and a FISH analysis was performed using X and Y centromeric probes. Repeat culture revealed 46, XY pattern in 89 out of 90 studied plates. Only one plate revealed tetraploidy. Two hundred interphase cells were studied for the FISH analysis and 98% had one single X and one single Y signal. Ultrasonography at 18 weeks of pregnancy revealed no abnormality. A healthy male infant was born at term and is doing well. We conclude that abnormal karyotypes in poor growth cultures could be misleading and have to be confirmed with repeat cultures

[Cytogenetic analysis of 243 turner syndrome patient]

Turner Syndrome is one of the most frequent cytogenetic disorders in human and its incidence is estimated as 1 in every 2500 female live-birth. The Syndrome is caused by monosomy X or loss of some X chromosome material in at least one cell line. In this article, we report the results of cytogenetic study of 243 patients with Turner syndrome, referred to Kariminejad-Najmabadi Pathology and Genetics Center [Tehran, Iran]. The mean age of patients at diagnosis was 12.1 years and the median was 13. Most of the patients were referred to us due to short stature and/or growth failure [116 cases, 41.7%], primary amenorrhea [90 cases, 37.0%], congenital lymphedema [1 8 cases, 7.4%] and secondary amenorrhea [17 cases, 7.0%]. Karyotypes were carried out, using peripheral lymphocytes and monocytes and conventional giemsa banding method [GTO technique]. The results showed that 45,X was the most frequent pattern [111 cases, 45.7%], followed by 45,X/46,XX [33 cases, 13.6%], 45,X/46,X,isoXq [25 cases, 10.3%], and 46,X,isoXq [23 cases, 9.5%]. Twelve cases [4.9%] had one 46,XY cell line, without external genital ambiguity. We conclude that complete X monosomy is the most common pattern in peripheral blood karyotypes, but other molecular techniques such as polymerase chain reaction [PCR] and Fluorescent in situ hybridization [FISH] are necessary for more accurate results