ACOG updates its guidance on Neural Tube Defects

ACOG has recently released its updated guidance on Neural Tube Defects (NTDs) and includes guidelines about prevention, screening, antenatal management and delivery in pregnancies with  such defects. The practice bulletin No.187 is published in December issue of Journal Obstetrics and Gynecology.

NTDs is the second most common group of congenital malformation after cardiac anomalies. The prevalence differs according to race, region and environmental influences.

In contrast to other malformations, NTDs are preventable by supplementation of folic acid.  

The recommendations:

ACOG along with other professional organizations like CDC, AAFP, AAP, ACMG and AAN: Women in the reproductive age group, having the capacity to become pregnant should take at least 0.4 mg (400 µg) of folic acid daily.

USPSTF: all women who are planning or capable of pregnancy take a daily supplement containing 0.4 to 0.8 mg (400-800 µg) of folic acid.

ACOG, CDC other organization suggests a higher dose of 4 mg (4000 μg) of folic acid for women who are at high risk of having a baby with NTD. These factors are:

Previous history of pregnancy with NTD

Having a partner with NTDs or a partner who previously has had a child with NTD

Patients with a second or third degree relative with NTD

Patient herself was born with NTD

History of taking anti-epileptic medication Valproic acid

Type 1 Diabetes Mellitus

Obesity.

ACOG has also made additional recommendations in the recent 2017 updates.

With Advancements in Ultrasound techniques, Maternal Serum Alpha Feto Protein (MSAFP) has become less important in diagnosing NTDs, when high quality, second trimester ultrasound is routinely used.

MSAFP is more important for screening for other anomalies and placental complications in such cases.

If MSAFP value is ≥ 2.5 MoMs, the detection rate for anencephaly is 95% and 65-80% for other open NTDs.

2D ultrasound has a detection rate of 96% and if structural abnormalities are seen on Ultrasound, they can be considered diagnostic.

3D ultrasound is not superior to 2D in diagnosing NTDs; however, it may be more helpful in delineating the upper limit of spinal defects.

The rates of diagnosing NTDs in first trimester are lower than that of 2^nd trimester sonography.

MRI is not mandatory if NTD has already been identified in sonography.

Pregnancy and delivery management:

After a pregnancy with NTD is diagnosed options should be individualized according to each pregnancy:

Pregnancy termination

In Utero fetal surgery for repair

Expectant management with neonatal surgical repair.

Studies on In-Utero repairs have demonstrated that such neonates have functional level two or more times better than expected, and reduce the neonatal mortality and morbidity.

Delivery:

Regarding the timing of delivery, term delivery is preferred. Elective late preterm or early term cesarean is only considered if fetal repair has been done or other obstetric indication for surgery exists.

Retrospective studies with not very long-term follow-up have demonstrated no increased risk of vaginal delivery, but each case needs to be individualized.

Practice Bulletin Abstract

USPSTF recommendations

CDC recommendations

ACOG committee opinion on Fetal Myelomeningocele Repair

ACMG policy statements

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Anencephalic Newborn as an organ donor! An Ethical and Medical Dilemma.

Keri Young and her husband Royce

There has been lot of headlines recently about a young mom from Oklahoma, carrying her congenitally malformed baby till term so that her organs can be used for donation to other children and research purpose too!

Keri Young and her husband, Royce, made the difficult decision of not to abort the baby when they received diagnosis that Keri is carrying an anencephalic baby during a routine prenatal scan at 20 weeks.

Courtesy: CDC

According to CDC statistics, three in every 10,000 pregnancies in the U.S. result in anencephaly, his means about 1,206 pregnancies are affected by these conditions each year in the United States.[1]

Organ procurement from anencephalic babies has been a subject of debate since early 1980s due to difficulty in establishing brain death in these patients.  In 2005, the Canadian Pediatric Society published a position paper recommending against organ donation from anencephalic neonates due to the difficulty in establishing brain death in this condition.[2] Reports of donations from anencephalic babies are fewer since then. Wijetunga et al. reported the organ recovery of an anencephalic infant in 2015.[3]

Donation possibilities for babies, specifically babies with anencephaly, have expanded in USA since 2012. Each case is unique in itself and requires certain criteria’s that must be fulfilled, donation is a very viable option for a baby with anencephaly if families wish to pursue this option. 

Donations can be for transplant or for research purposes.

A baby with anencephaly may be able to donate heart valves, corneas (both tissue donation), and sometimes kidneys and liver cells (both organ donations) for transplant, if the requirements are fulfilled after the birth of the baby.

Currently, if there is a current research need and specific criteria are met, a baby with anencephaly may be capable of donating liver, lung, heart, kidney, pancreas, thymus (organ donations), skin samples, corneas, retinas, and some musculoskeletal tissue (tissue donation).

Keri Young and her husband took this brave decision so that organs from their daughter can help some kids, who are on the long list of organ transplant with gift of life. “We know she will not live. But someone else is desperately hoping for a miracle. Their kidneys are failing them. Their liver has betrayed them. They deserve life, and they’re probably praying for it. Eva can be their answer to it.” said Keri.

Many pro-life advocates in USA are concerned about getting organs from the anencephalic baby, because they want the hospital to ensure that her parents will not take any action to hasten her natural death.

Looking at the whole decision from a doctor or ob/gyn perspective is very complicated. Most anencephalic infants die within days or weeks without life-supporting interventions. If the parents are planning to donate the organs after birth, then the baby needs to be shifted to NICU for hooking the baby to an incubator. This is done so that the organs are well oxygenated before they are harvested.

Once the baby is put on the machine then it’s a painful process of waiting her to pass off so that the organs can be donated. This does not allow the family to begin the natural grieving process because the baby is still alive. It is also hard for NICU staff who is caring for the baby, despite knowing the full prognosis.  What happens if the baby is alive for months and consumes lot of healthcare resources?

All the hospital staff, doctors and parents are waiting for the baby to die so that the organs can be recovered. If it was not for the machines the baby would have passed away long back. We do not know?

These are some very tough questions that need to be answered before a decision of organ donation is taken. Even if all the legal dilemmas are met with, uniform criteria for death are observed and ethical considerations are acknowledged, the emotional aspects are very tough to address. 

Keri is due on 7 May 2017. 

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[1] https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html

[2] Canadian Paediatric Society. Use of anencephalic newborns as organ donors. Paediatr Child Health (2005) 10:335–7

[3] Wijetunga I, Ecuyer C, Martinez-Lopez S, Benetatos N, Griffiths A, Adappa R, et al. Neonatal organ donation for transplantation in the UK. Arch Dis Child Fetal Neonatal Ed (2015).10.1136/archdischild-2015-308575