Dr. Allen Cherer | Neonatal Care & Pediatrics

Dr. Allen Cherer is a neonatal care expert with over 30 years of medical accomplishments to his name.

Tag: Health

Newborn Screening and Severe Combined Immune Deficiency

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On May 15, 2016

In Child Health Care, Neonatal Care

April (April 22-29) has been designated as National Primary Immunodeficiency Awareness Month and provides an opportunity to better understand the more than 250 rare, genetic disorders in which the body’s normal immune system is absent or functions improperly. Since an important function of the immune system is to protect against infection, patients with primary immune deficiency have an increased susceptibility to infection.

Severe Combined Immune Deficiency (SCID), popularized in the 1976 movie “The Boy in the Plastic Bubble”, is generally considered to be the most serious of the primary immunodeficiencies. There are at least 13 different genetic defects that can cause the disease; all of which are present at birth, involve missing T lymphocytes which are important in identifying and attacking perceived “invaders”, and affect the function of B lymphocytes which produce antibodies against infection.

The absence of T lymphocytes and antibody immunity results in severe infections, diarrhea, and failure to thrive. Regardless of the genetics, patients invariably succumb to an early death due to overwhelming infection. New approaches to diagnosis and management have changed what at one time was a dismal prognosis.

Treatment options have come a long way over the past 4 decades and include enzyme replacement, bone marrow transplant, and gene therapy. Paramount to this change is early diagnosis before the infant has had a chance to develop any serious infections.

The most effective therapy to date is immune reconstitution via stem cell transplant which has been shown to be highly successful (94%) if performed by 3.5 months of age. Hence, timing is crucial in terms of diagnosis and treatment.

Typically, infants with SCID appear totally normal at birth and have no family history of immunodeficiency. In the past, patients were primarily identified either by previous family history, physical manifestations, or after onset of life-threatening infection. Early identification of SCID has been achieved through the use of the 7-cell receptor excision circle (TREC) assay as part of the routine newborn screening program.

Absent or low TREC levels can indicate insufficient T lymphocyte production characteristic of SCID, as well as low T lymphocyte, non-SCID conditions as seen in DiGeorge Syndrome, Trisomy 21, CHARGE Syndrome, and ataxia telangiectasia. On May 21, 2010, The U.S. Department of Health and Human Services (HHS) recommended that every state include the assay as part of the newborn screen.

In the landmark study based on retrospective data on more than 3 million infants from 11 newborn screening programs using the TREC methodology conducted by Jennifer Puck, MD and colleagues and published August 20, 2014 in The Journal of the American Medical Association, the value of early detection and treatment of SCID was confirmed.

In addition, the study found an incidence rate almost twice as great (1 in 58,000 births) as had been previously estimated. Since the point of newborn screening is to identify conditions for which early treatment is life-saving, the study was a crucial step in the adoption of universal screening.

As of April 1, 2016, all, except for 11, states have adopted routine newborn screening programs for SCID. A 2016 study published in the Journal of Pediatrics by Ding and others provided an eloquent cost-benefit analysis of newborn screening in the treatment of Severe Combined Immune Deficiency.

Based on data obtained from 86,000 infants in Washington state, the study showed that newborn screening for SCID is clearly cost-effective. Hopefully, the study provides additional support in economic terms for the adoption of universal screening programs in all 50 states.

Reflections on Cesarean Section Rates

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On May 9, 2016

In Child Health Care, Neonatal Care

Cesarean section delivery is among the most common surgical procedures. It is estimated that in 2012 alone, over 22 million cesarean deliveries were performed worldwide. Data from the National Vital Statistics show that the total cesarean section rate in the U.S. in 1996 was approximately 21%.

Since that time, there has been a rapid increase in the rate, such that in 2011, close to 1 in 3 mothers delivered by cesarean. Although the rate has leveled since then, there remains no evidence that such a significant increase has been accompanied by a concomitant decrease in maternal or neonatal mortality.

Although cesarean delivery can be life-saving for the fetus, the mother, or both in certain cases, the concern exists that cesarean delivery is overused. Hence, the matter is a global health issue. Since one of the main driving forces for the increased total cesarean rate has been a marked shift to repeat cesarean delivery following a previous primary cesarean section, a concerted effort over the past several years has been to examine closely the factors related to the safe management of the nulliparous pregnancy.

As early as 1985, the World Health Organization (WHO) stated there was no justification for any region to have a cesarean delivery rate greater than 10-15 /100 live births. Nevertheless, the rates continued to increase worldwide with no scientific evidence indicative of substantial maternal or perinatal benefit.

In fact, a number of studies have associated higher rates of cesarean deliveries with negative consequences, including increased maternal and neonatal morbidity and mortality as well as increased consumption of limited health resources by procedures without medical indications.

In March 2014, a consensus report was issued by the American College of Obstetrics and Gynecology and the Society for Maternal-Fetal Medicine on the safe prevention of the primary cesarean section. Among other points, it addressed management guidelines for the most frequent indications for primary cesarean deliveries, namely, labor dystocia, abnormal or indeterminate fetal heart rate tracing, fetal malpresentation, multiple gestation, and suspected macrosomia.

The report encouraged obstetricians to allow more time to progress through a vaginal delivery without intervention, recommended improved and standardized fetal heart rate interpretation and management, and advocated access to non-medical interventionsduring labor, such as continuous labor and delivery support.

A study by researchers at Harvard Medical School and the Stanford University School of Medicine published December 2015 in The Journal of the American Medical Association suggested that based on analyses of cesarean section rates and maternal and neonatal outcomes among 194 WHO member countries the ideal rate of childbirth by cesarean section approximates 19% of all births as opposed tothe previously considered optimal rate of 10-15%. Although the finding is higher than the former target, it remains significantly lower than the current rate in U.S. hospitals.

In its April 2015 position statement on cesarean delivery, the WHO moved away from any target rate. Rather, it emphasized that every effort should be made to ensure cesarean sections are provided to the women in need and only be performed when medically necessary.

It is gratifying that the concept of “target rate” is no longer tied to the delivery of quality medical care. Primarily due to the lack of a consistent classification system to monitor and compare different obstetric profiles, meaningful data relative to cesarean section rates is missing.

It is only when such systems as the Robson Ten Group Classification System are widely adopted by institutions that valid “risk-adjusted”cesarean section rates can potentially be developed and comparisons be made between institutions, regions, and countries.

IVF and Childhood Cancer Risk

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On March 2, 2016

In Child Health Care

Assisted Reproductive Technology  (ART) has been successfully employed to treat infertility. In vitro fertilization (IVF)  is one form of ART, and it is unclear whether it increases the risks of birth defects . Since childhood cancers, such as leukemia, occur earlier in life, it is reasonable to question if factors related to early embryonic development and intrauterine environment may play a role in their occurrence.

A recent study from Norway suggests a slightly increased risk of childhood leukemia and Hodgkin’s lymphoma among children born through the use of ART. The findings were based on a review of children born between the years 1984 and 2011 and the use of ART. The data were then paired with cancer registry data. Out of 4500 cancer patients identified, 51 were conceived via ART.  Although overall cancer risk was not found to be increased among ART children, the odds of leukemia and Hodgkin’s lymphoma were.

As pointed out by Dr. Susan Amirian, assistant professor with the Baylor College of Medicine’s Duncan Cancer Center in an accompanying editorial, although the findings suggest a possible association, the very small numbers of actual cases  (17 cases of leukemia and 3 cases of Hodgkin’s lymphoma) call for caution in interpretation of the results. It would require more studies to establish a true association. Certainly other health factors that result in infertility may play a role in the apparent association.

At this point, the study results should not deter parents from using assisted reproductive technology and only careful monitoring of children born using the techniques is warranted. Take a look at this link for more information about this study.

Proton Radiotherapy: A Gentler Form of Radiation Treatment

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On February 18, 2016

In Child Health Care

Recent studies in Pediatric patients with brain tumors point to the efficacy of a new way of delivering radiation treatment which may result in improved long term outcomes for children.  Although not widely available, the new treatment, proton radiotherapy, focuses the radiation dose on the target area alone.  Standard photon (X-ray) radiation has the troublesome effect of exposing surrounding healthy tissues and organs  to the radiation as well. The new treatment has the distinct advantage of  getting  to “hard to get to” tumors.

A new study completed at the Massachusetts  General  Hospital  describes the results in a Pediatric patient population with medulloblastoma  treated with the usual combination of surgery, radiation, and chemotherapy.  Medulloblastoma is a fast-growing, high grade tumor always located in the cerebellum of the brain. It is a relatively rare tumor with more than 70% being diagnosed in children under 10 years of age. Like many tumors, its exact cause is unknown.  In  the study, the newer form of targeted radiation therapy was used and compared with the more  conventional  (photon) radiation. The results, as pointed out by Dr. Torunn Yock, Associate Professor of Radiation Oncology at Harvard Medical School, showed  comparable survival and tumor recurrence risks as well as long term hormone deficits between the two groups but far fewer side effects related  to hearing, cognition, and other organ systems.

The results are exciting in that they demonstrate the efficacy and safety  of proton radiotherapy with decreased long term side effects,  thus improving the quality of life in these young survivors.

Approaching a Birth Plan

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On February 14, 2016

In Neonatal Care

Pregnancy is an exciting time for expectant parents, and childbirth is a miraculous event. Nevertheless,due to the innate unknowns, it can result in considerable anxiety and sense of loss of control. One means of combating these feelings is through thoughtful preparation of a birth plan based on realistic and trustful communication among all the parties who will be involved.

Since the early Roman period, pregnant women in labor had been attended by friends, relatives, or others experienced in aiding with childbirth. As time progressed, the management of the laboring woman became more involved and the advancement of technologies to better monitor the unborn child and the mother required a change in the birth place and the sophistication of the caregivers.

baby feet

 

Currently,the vast majority (>98%) of deliveries in the U.S. occur in the hospital setting and are attended by midwives or physicians. In association with these changes came the option of operative delivery (cesarean section) which in 2012 accounted for close to 30% of all births in the United States, according to the Centers for Disease Control and Prevention (CDC). Cesarean sections are known to be medically indicated for a number of reasons to safeguard the well being of baby and/or mother.

At the same time, for most pregnancies that are low risk, cesarean section may pose greater risks than vaginal delivery, especially risks related to future pregnancies. Due to the recent rapid increase in the cesarean section rate and concerns that operative delivery is overused without clear evidence of improved maternal or newborn outcomes, the American College of Obstetricians and Gynecologists (ACOG) issued in 2014 new recommendations targeted at preventing women from having cesarean sections with their first birth and at decreasing the national cesarean rate.

child in neonatal care

Pain management is a significant component of the birth plan. Although most mothers report only mild discomfort during early labor, as contractions become stronger, longer, and more frequent, pain intensifies and may require relief with either spinal or epidural anesthesia.

Although the medications are generally considered safe, very rare complications can occur. For those women opting for a more natural childbirth, the participation in a yoga program during pregnancy or the use of hypnosis have been described.

Whatever birth plan is developed for an individual pregnancy, it should always be tempered based onthe saying “the best laid plans of mice and men often go awry”. The overriding goal should always be a safe birth for both mother and baby. If communication and trust exist among all parties, childbirth can be a magnificent process.

Eating Tips for Your Pregnancy

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On February 7, 2016

In Neonatal Care

The nutritional status of women when becoming pregnant and during pregnancy can have significant influence on infant and maternal health problems. Numerous studies of nutritional education and counseling before and during pregnancy have demonstrated beneficial effects in terms of improved gestational weight, increased head circumference, reduced risk of preterm birth, and reduced risk at birth of maternal anemia.

A pregnant woman needs to ensure that her diet provides enough nutrients and energy for her baby to grow and develop properly and also to make sure her body is capable of sustaining the multiple demands that come with pregnancy. Caloric intake grows with pregnancy and weight gain varies considerably. For the average healthy woman, ideal weight gain is 25-35 lbs during the nine month pregnancy.

nutritional education

 

Either excessive or insufficient weight gain can be deleterious to the health of both the baby and the mother. In general, mother’s diet needs to be balanced and nutritious, involving right proportions of protein, carbohydrate, and fat while consuming a wide variety of fruits and vegetables.

Specifically, fat should provide no more than 30% of daily calories with monosaturated fats being preferable. Examples are foods such as olive oil, peanut oil, sesame oil, canola oil, avocado, and many nuts and seeds. Excellent sources of carbohydrates are potatoes, rice, pasta, and bread.

avocadonuts

Animal-sourced protein includes lean meat and fish, as well as eggs. Beans, lentils, and legumes are good sources of protein as well as being rich in iron. Quinoa is notable as a source of all the essential amino acids. As far as fruits and vegetables, fresh and frozen produce usually have higher vitamin and nutrient content as well as being excellent sources of fiber.

Micronutrient deficiencies can be addressed through diet as well as supplements. The value of prenatal vitamins cannot be overemphasized. Folic acid, iron, vitamin D, calcium, iodine, and zinc are especially important during pregnancy. Adequate folic acid before and during pregnancy is critical in preventing neural tube defects which affect the brain and spinal cord. Recommended daily intake is 400-600 mcg.

During pregnancy, maternal blood volume increases significantly and adequate iron supplementation is required to prevent anemia and promote adequate oxygen carrying capacity. Vitamin D deficiency is common even in the non-pregnant state. Adequate Vitamin D during pregnancy is critical for normal fetal skeletal development and may be beneficial in mother to prevent preeclampsia.

Recommended dose is controversial and ranges from 600-4000 IU/day. Iodine is important for normal fetal thyroid development and function.

Clearly, pregnancy places impressive metabolic demands on the mother’s body. Only through nutritional education and counseling can the best outcomes for both mother and baby be achieved.

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