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: Despite progress in medical and surgical care the mortality rate of congenital diaphragmatic hernia remains high. Assessment of short-term outcome is important for comparison between different medical centers.

Objectives: To evaluate the short-term outcome of infants born with symptomatic CDH[1] and to correlate demographic and clinical parameters with short-term outcome.

Methods: We performed a retrospective cohort study in which demographic, obstetric and perinatal characteristics were extracted from infants' files. For comparison of categorical variables chi-square test and Fisher's exact test were used and for continuous variables with categorical variables the Mann-Whitney test was used. Sensitivity and specificity were estimated by receiver operator curve.

Results: The study group comprised 54 infants with CDH, of whom 20 (37%) survived the neonatal period. Demographic characteristics were not associated with survival. Regarding antenatal characteristics, absence of polyhydramnion and postnatal diagnosis were correlated with better survival. Apgar scores (above 5 at 1 minute and 7 at 5 minutes), first arterial pH after delivery (above 7.135) and presence of pulmonary hypertension were significantly correlated with survival. Also, infants surviving up to 6 days were 10.71 times more likely to survive the neonatal period.

Conclusions: The survival rate of symptomatic newborns with CDH at our center was 37% for the period 1988–2006. Prenatal diagnosis, Apgar score at 5 minutes and first pH after delivery were found to be the most significant predictors of survival. Prospective work is needed to evaluate the long-term outcome of infants with CDH.

Background: Over the last two decades, the epidemiology, treatment strategy and mortality rate for congenital diaphragmatic hernia have changed.

Objectives: To retrospectively analyze our experience with CDH[1] of the last 22 years.

Methods: We reviewed the charts of all infants suffering from CDH between 1985 and 2007. Prenatal and maternal as well as perinatal and neonatal data were collected, including outcome parameters. The 71 infants that we identified were divided them into two historical groups: from 1985 to 1995 (group 1, 123 patients) and from 1996 to 2007 (group 2, 45 patients).

Results: We found an increase in the incidence of prenatal diagnosis and a subsequent significant decrease in gestational age at diagnosis in group 2 (25 weeks gestation, compared with 30 weeks gestation in group 1, P = 0.018). In addition, we noted a trend toward a reduced number of infants with right-sided hernia and associated cardiac anomalies. The timing to post-delivery surgery was significantly longer in group 2 (20 hours in group 1 vs. 53 hours in group 2, P < 0.001). A significant reduction in postoperative mortality was demonstrated in group 2 compared with group 1 (13.5% vs. 38.7% respectively, P = 0.04),

Conclusion: Our data suggest a higher survival rate for operated infants in group 1 during the last decade, probably due to changes in preoperative methods of treatment as well as later surgery timing compared to group 1. We speculate that today’s cases of congenital diaphragmatic hernia are probably milder than in the past due to earlier and more detailed prenatal diagnosis and subsequent termination of pregnancies for the more severe forms of the disorder. 

Background: The national program for the prevention of Down syndrome includes screening (using the triple test) and invasive diagnostic tests in women at risk for a Down syndrome pregnancy. However, despite the program, the majority of Down syndrome infants are born alive (approximately 1/1000 live births)

Objectives: To determine whether the relatively high incidence of Down syndrome at birth in Israel is the result of failure of the preventive program or due to informed choices of the mothers.

Methods: We conducted a retrospective study using the national registry of Down syndrome for the years 1997 and 2004, according to the mothers' religion and place of residence and the reasons for prenatal diagnosis.

Results: Most of the babies affected with Down syndrome are born in religious or traditional conservative communities where termination of pregnancy is usually not an option.

Conclusions: In a pluralistic society like Israel with its diverse communities and dissimilar religious backgrounds and traditions, the different attitudes concerning utilization of the national program should be respected. It is necessary to tailor different approaches and solutions for the various ethnic and religious communities according to their need.
 

The Ashkenazi-Jewish population is at increased risk for several recessively inherited disorders. While some of the disorders have severe or fatal symptom manifestations, others, such as non-neuronopathic Gaucher disease, do not usually pose a serious, life-threatening illness. Many healthcare centers in Israel offer prenatal panel screening. Controversy exists over the inclusion of Gaucher disease in the panel screening, especially since Gaucher disease screening lacks prognostic reliability. Most screening participants do not discriminate between the specific tests in the panel and are unable to discern between severe, life-threatening diseases and those that are less severe and even treatable. By including screening for Gaucher in the panel screening program, there is risk of a "panel effect," leading to termination of a pregnancy positive for Gaucher disease, without sufficient knowledge and understanding of the disease. Increasing medical and public awareness and knowledge of the disease, its prognosis and treatment options may reduce the rate of under-informed abortions associated with prenatal screening of Gaucher disease.

Various events occurring during pregnancy might influence the normal neurogenesis of fetus brain, including exposure to the influenza virus. Several studies have attempted to find a relationship between exposure to influenza virus and the onset of schizophrenic behavior in childhood or adulthood, however results remain contradictory. In this review we describe several animal and human studies that show or do not show a relationship between exposure to the influenza virus during pregnancy and the subsequent development of schizophrenia.

Background: Prenatal care in Israel is established as a universal service, but the degree of compliance with care recommendations may vary with the healthcare provider or the characteristics of the population.

Objectives: To study referral to and compliance with the performance of ultrasound, alpha-fetoprotein and amniocentesis and the factors associated with them in a national sample. 

Methods: The sampling frame consisted of women who gave birth during March 2000. The sample included 1,100 Israeli Jewish and Arab women who resided in localities with over 50,000 and 20,000 inhabitants respectively. They were interviewed by phone 3 months after delivery. 

Results: In both population groups 30% reported having seven or more ultrasounds during pregnancy. The performance of fetal body scans was relatively low. Factors associated with non-performance among Jewish women were: lower education, religiousness, and attending Mother and Child Health services as compared to all other services. Seventy-seven percent of Jewish women and 84% of Arab women reported that they had been referred for alpha-protein tests. For women aged 35 and over, 55% of Jewish women were referred and 63% complied, whereas 39% of Arab women were referred but none complied.

Conclusions: Ultrasound is almost universally performed among Jewish and Arab women; however fetal body scans, alpha-fetoprotein and amniocentesis (for women over the age of 35) are not. The reasons for the lower coverage may be due to under-referral and/or lack of compliance of the women, perhaps due to sociocultural barriers. In both population groups considerable out-of-pocket money is paid for the tests.

Background: In Israel, preventive services for mothers and children are provided mainly by the Ministry of Health through a network of Maternal and Child Health clinics, and partly by municipalities and health maintenance organizations. Utilization of the MCH[1] clinics for prenatal care has declined during the last decades.

Objective: To study the utilization and satisfaction with prenatal care services following the introduction of the National Health Insurance Law.

Methods: The study population comprised a national sample of Jewish and Arab women who were interviewed by telephone regarding the following: main service utilized for prenatal care, physician and nursing visits, satisfaction with care, and demographic and other characteristics. The response rate was 92% among Jewish women and 88% among Arab women.

Results: Twenty percent of the Jewish and 52% of the Arab women selected MCH clinics as the main service for prenatal care. The great majority of the study population attended the HMO[2] services (clinics, independent physicians, women’s health centers), while 7% of the Jewish and 4% of the Arab women visited a private clinic. The predisposing factors affecting the women's choice were educational level, ethnic group, religiosity, district of residence, and type of HMO. The mean number of physician visits was more than the eight visits recommended. Forty percent of the sample visited with three or more physicians at different services. More than 50% of the women had no appointment with a nurse, mainly those who chose the services of an HMO clinic, independent physician, or private physician. Satisfaction with the physician, nurse, and physical structure of the main service chosen for prenatal care was high.

Conclusions: Since the majority of women preferred the HMO services, the merging of prenatal care with curative care provided by the HMOs has to be considered. Public health nurses should be integrated in the service, and their specific role needs to be defined.

Background: Routine prenatal ultrasound has increased the frequency of prenatal diagnosis of congenital cystic lung malformation, such as cystic adenomatoid malformation, pulmonary sequestration, congenital lobar emphysema, and bronchogenic cyst.

Objectives: To evaluate the methods of postnatal diag­nosis, the optimal age for operation since surgery is always required, and the optimal extent of lung resection.

Methods: The clinical courses of 11 patients with congenital lung cysts who underwent surgical lung resection (8 lobectomies and 3 segmentectomies) were reviewed.

Results: The diagnosis was confirmed by computed tomography scan in all. In nine patients the diagnosis was made prenatally. Chest X-ray was normal postnatally in all patients except for two who had recurrent pneumonia. Post­operative follow-up showed excellent recovery in all operated children. One patient who underwent surgery for CCAM following episodes of severe pneumonia died from another cause 5 months later. Postoperative chest CT scan showed no residual disease in eight patients. In two who had undergone limited resection, tomography showed a small segment of residual disease in one and a suspected residual lesion in the other.

Conclusion: With prenatal ultrasound the true frequency of congenital cystic lung anomaly appears to be higher than previously reported. Postnatal CT is mandatory to confirm or to rule out the diagnosis. The mere presence of cystic lung malformation is an indication for surgery. Complete removal of the affected lung lobe is recommended. Segmental resection may be inadequate. Early operation is tolerated well by infants and small children and we recommend that surgery be performed in children between 6 and 12 months of age.

Background: Parental knowledge of their child’s heart disease, while often overlooked, contributes to compliance and reduces anxiety. Prior studies have shown that 36% of parental diagnostic descriptions are incorrect.

Objectives: To assess parental knowledge and attitudes among outpatients at a hospital pediatric cardiology clinic.

Methods: Seventy-four families completed a questionnaire in which they described their child’s condition and stated their attitude towards dental hygiene and future prenatal diagnosis.

Results: Eighteen percent of the parents failed to describe their child’s malformation correctly. We found that parental understanding of the heart defect correlated with parental education. Future prenatal diagnosis was considered by 88% of families, and termination of pregnancy by 40%. Only 40% of children were aware of their heart problem. Children of parents who were ignorant about the condition tended to lack knowl­edge themselves. An additional finding was that 68% of Jewish families turn to non-medical personnel for medical advice - an interesting finding not hitherto addressed.

Conclusions: Ignorance of their child’s problem did not correlate with its severity or complexity but rather with parental background: the less educated the parent, the more likely was the problem perceived incorrectly.
 

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.