Israel Medical Association Journal

Background: Ultrasound examination of the fetus enables diagnosis of many major malformations during pregnancy, providing the possibility to consider interruption of the pregnancy. As a result, in many cases the incidence of malformations at birth does not represent their true incidence.

Objectives: To determine the impact of prenatal diagnosis and termination of pregnancy on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel.

Methods: Data on selected major malformations in 2000–2003 were collected from the two large central databases of the Ministry of Health and the Central Bureau of Statistics which contain information regarding births, stillbirths and terminations of pregnancies.

Results: For many malformations the total incidence was much higher than the incidence at birth. For almost all of the malformations studied, the total incidence was higher in Muslims than in Jews and the differences were further accentuated among the liveborn because of the differences in the rate of pregnancy terminations.

Conclusions: In order to detect possible influences of environmental or genetic factors on major malformations in Israel, it is critical to look at data including pregnancy terminations, stillbirths and live births.

Background: Klippel-Trenaunay syndrome, a congenital disorder, is characterized by capillary malformation, varicosities and bony or soft tissue hypertrophy. Since there is no cure for this syndrome, treatment is directed towards secondary prevention of venous hypertension and preservation of functional integrity of the legs. Elastic stockings are the mainstay of treatment and are indicated in all cases. Surgery is reserved only for a few selected symptomatic patients, however the outcome is unsatisfactory in most cases, with recurrent pain, edema, poor cosmetic result and limb deformity. Ultrasound-guided foam sclerotherapy is a recently introduced minimally invasive ambulatory procedure for the treatment of chronic venous insufficiency. It was recently introduced to treat this disorder.

Objectives: To evaluate the efficacy of USFS[1] in the treatment of patients with Klippel-Trenaunay syndrome.

Methods: Seven patients diagnosed with Klippel-Trenaunay, with massive lower extremity involvement, were treated with USFS between October 2003 and October 2005. Sclerovein® (polidocanol, Resinag, Switzerland) 2–4% was used as the sclerosant. The signs, symptoms and overall patient satisfaction were assessed before, during and after the treatment.

Results: Patients' mean age was 26 years (range 15–54). The CEAP[2] clinical classification, with ascending severity ranging from 0 (no signs) to 6 (active venous ulcer), was C4 in 5 patients (71.5%) and C5 and C6 in one patient each. The average number of sessions was 14.5 (range 9–21). No major complications were encountered. All seven patients reported improvement in signs and symptoms. Five of the 7 patients (71%) were very satisfied with the cosmetic result.

Conclusion: USFS is an effective minimally invasive ambulatory technique, essentially pain-free and with excellent short-term results in patients with Klippel-Trenaunay syndrome (when the deep system is functional). Long-term results and larger study groups are warranted. 

Background: Infant mortality in Israel is twofold higher among non-Jews than Jews.

Objectives: To determine the impact of congenital malformations and Mendelian diseases on infant mortality.

Methods: We compared the causes of infant mortality in a 4 year period among Jewish and non-Jewish Israeli citizens. Classification was done by analyzing all the death reports according to whether or not the child had any known major malformation, Mendelian disease and/or a syndrome, irrespective of the immediate cause of death.

Results: The infant mortality among non-Jews was double that among Jews (9 versus 4.4 per 1,000 live births). The rate of children with malformations/genetic syndromes was 3.1 times higher among non-Jews than among Jews (2.94 vs. 1.25 per 1,000 live births). The most significant difference was in the rate of Mendelian diseases, which were 8.3 times more frequent in non-Jewish children (0.16 vs. 1.33 per 1,000 live births respectively). A Mendelian disease was diagnosed in almost 15% of the non-Jewish infants and in less than 5% of the Jewish infants.

Conclusions: The most striking difference between the Jewish and non-Jewish infants was the incidence of congenital malformations and Mendelian diseases parallel to the differences in the consanguinity rates between the two populations.
 

Background: A high rate of consanguineous marriages exists within the Israeli Arab community, with approximately half occurring between first cousins. This contributes towards a high incidence of congenital malformations and autosomal recessive diseases, many of which are detectable at prenatal diagnosis.

Objectives: To assess the levels of both awareness and acceptance regarding prenatal diagnosis and termination of pregnancy among a group of Arab women in order to devise the optimal means of providing genetic counseling and general health services.

Methods: A total of 231 Arab women of childbearing age were interviewed 3 days postpartum to assess their knowledge of prenatal diagnosis and termination of pregnancy, their willingness to undergo prenatal diagnosis, and their opinions on termination of pregnancy in the event of a severely affected fetus.

Results: Half the women believed that prenatal testing is not an effective (or accurate) tool for diagnosing an affected fetus. A quarter had poor knowledge on prenatal diagnosis, and a quarter believed that prenatal diagnosis does provide the correct diagnosis. Ninety-five percent said they would agree to undergo prenatal diagnosis; and in the event of a severely affected fetus, 36% said they would agree to a termination of pregnancy, 57% said they would not, and 7% were undecided.

Conclusions: There is a need for special intervention programs, with guidance by health professionals, geneticists and religious authorities, that will inform this population on the increased risk associated with consanguinity, stress the importance and effectiveness of prenatal testing to identify severe congenital malformations, and help them to accept prenatal diagnosis and termination of pregnancy if indicated.

Objective: To review the clinical presentation of gastrointestinal duplications and present our experience with such lesions over the past decade.

Methods: The records of all patients treated for gastrointestinal duplications at a tertiary hospital during 1987 through 1996 were collected, and relevant published literature reviewed.

Results: In the nine patients with gastrointestinal duplications, six were in the small bowel and one each in the cecum, colon and esophagus. Presenting clinical features were varied and often subtle. Perinatal ultrasonography, radioscintography and computerized tomography were useful in some cases, while in others the correct diagnosis was established only at surgery.

Conclusions: Alimentary tract duplications are uncommon, and may present as solid or cystic tumors, intussusception, perforation or gastrointestinal bleeding. A high index of suspicion is required when dealing with such cases. Appropriate investigations, including imaging techniques, should be directed toward adequate and planned surgery.