Truncus arteriosus communis: report of three cases and review of literature.

BACKGROUND: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk. OBJECTIVES: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins. METHODS: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH). RESULTS: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal. CONCLUSION: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.

Brachydactyly type A1 with short humerus and associated skeletal features.

We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges). A unique feature in one family member is triphalangeal thumbs. Vertebrae are normal. Mental development is normal and deafness is seen in some of the family members. A mutation was excluded by sequencing the entire coding regions of the IHH gene encoding the Indian Hedgehog protein and the GDF5 gene. This condition is a novel chondrodyplasia phenotype or possibly one end of the spectrum of the brachydactyly A1.

Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases.

OBJECTIVES: To analyse the management of pregnancy after prenatal diagnosis of sex chromosome aneuploidy (SCA) and the factors influencing genetic counselling and parental decision. METHODS: Between 1991 and 2001, 73 non-mosaic fetal SCA were diagnosed in our centre and 25 were referred to us from outside institutions. The same geneticist carried out genetic counselling. The outcome of pregnancies and the termination trend over time were determined according to the type of SCA. Clinical parental data were analysed in order to assess whether they influenced genetic counselling. RESULTS: 45,X was diagnosed in 41 fetuses. The main indication for karyotyping was abnormal ultrasound (83%). The termination rate was 93%. Sex chromosome polysomies (SCP) including 47,XXY, 47,XXX, and 47,XYY were diagnosed in 31, 16, and 10 fetuses respectively. The main indication for karyotyping was advanced maternal age (60%). The termination rate was 32, 25, and 20% respectively. The difference between the termination rate for local cases (25%) and referred cases (33%) was not significant. The termination rate for pregnancies with SCP was 38% in 1991 to 1994, 34% in 1995 to 1998, and 12% in 1999 to 2001. The parents' characteristics did not influence the outcome of pregnancy. CONCLUSIONS: The relatively low termination rate (28%) in pregnancies where the fetus was affected by SCP and the decreasing termination trend over time in our centre suggest an improved knowledge of the pathological conditions associated with SCP, influencing genetic counselling.

Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases.

OBJECTIVES: To evaluate the feasibility, accuracy and safety of chorionic villus sampling (CVS). METHODS: Ten thousand seven hundred and forty one singleton pregnancies at risk of chromosome abnormalities (96.3%) and gene disorders (2.8%) were referred from 1990 to 1999 to the fetal medicine unit of a teaching hospital. CVS was performed transabdominally after 11 weeks, using a modified freehand ultrasonographically guided technique by 5 operators. Fetal karyotyping was obtained using a direct method before 1995 and was completed by cell culture after 1996. Failed results, feto-placental discrepancy and fetal loss were assessed. RESULTS: Villi were sampled using extra-amniotic puncture (89.4%) and one sampling-device insertion (92.3%). The mean weight of the specimen was 15.2 +/- 6.0 mg. All attempts at sampling were successful, except eight (0.07%). The number of failed results following direct preparation, cell culture and both methods was 20 (0.19%), 23 (0.21%) and 2 (0.02%), respectively. Light maternal cell contamination occurred in less than 1% of the samplings after microscopic selection of the villi, and never interfered with the assessment of karyotyping. All 3 false-negative results (0.03%) were recorded after direct preparation and 2 were corrected by culture. The rate of chromosomal abnormalities confined to the placenta decreased from 1.08% before 1995 to 0.73% after 1996. True fetal mosaicisms were recorded in 7 cases (0.06%). The rate of fetal loss at <28 weeks was 1.64% in all pregnancies and 1.92% when CVS was performed before 13 weeks. Advanced maternal age was the single factor significantly associated with fetal loss. CONCLUSIONS: CVS was feasible, accurate and safe in our institution, as a result of the increasing experience of the operators and the cytogeneticists.

Endometrial vascularity and ongoing pregnancy after IVF.

BACKGROUND: Embryo transfer is prone to failure. AIM: To investigate whether endometrial vascularity influences in vitro fertilization (IVF) outcome. METHODS: Total 144 patients receiving IVF (conventional or microinjection) were assessed with color and power Doppler on the day of embryo transfer: age, IVF type, number and quality of embryos, endometrial thickness and aspect, mean uterine PI, uterine notch, type of endometrial vascularity (peripheral or sub- and intra-endometrial), and pregnancy involving second trimester were recorded. RESULTS: 27 (18.7%) pregnancies were obtained. By univariate analysis, two parameters were significant: high frequency of uterine notch (P = 0.03) and peri-endometrial vascularity (P = 0.012) in the group of failures. Multivariate analysis by logistic regression clearly showed that the absence of sub- and intra-endometrial color signal decreased the chances of pregnancy eight-fold odds ratio (OR) = 0.14 [CI: 0.029-0.68]. CONCLUSION: In this limited series, the presence of sub- and intra-endometrial vascularity on the day of transfer seemed to be mandatory for obtaining an ongoing pregnancy.