Fetal Alcohol Spectrum Disorders: New Approaches to Prenatal Screening?

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Golder Wilson, MD, PhD


There are sad days in genetics clinic to be sure. Caring for the child with fatal illness or the couple whose fetus has terrible anomalies is heart-wrenching. Working through parental grief reminds me of how prized a pregnancy can be and how shattering it is when the anticipated baby will be lethally malformed or destined for terminal illness. Yet inborn disease is not my greatest tragedy, for I too often confront mental devastation that is completely preventable. Consider one sad morning and 3 children, victims of an age-old vice and reminders of an age-old battle: freedom versus responsibility.


Case 1: A 14-month-old boy came in with his foster mother for evaluation of developmental delay and possible fetal alcohol syndrome. The foster mother became the boy’s primary caretaker when he was 9 months old. At that time, the child was not sitting up; his length was at the 5th percentile for age, head circumference and weight were well below the 3rd percentile for age. He had a broad nasal bridge with a poorly defined philtrum and thin upper lip, similar to the infant shown in the Figure. A heart murmur proved to be atrial septal defect. He had been born with a left club foot that was now casted.

There was no family history information except that the biological mother was 22-years-old and had 2 children removed from her home because of neglect and suspected drug trafficking.

A clinical diagnosis of fetal alcohol syndrome was made on the basis of the characteristic facies, microcephaly, and growth delay. Results of chromosome and FISH studies were normal, which excluded a heritable cause of delay, such as velocardiofacial syndrome in the mother and child.

Figure – Physical signs of
fetal alcohol spectrum disorder

Major anomalies

Low birth weight, failure to thrive
Eye defects (strabismus)
Heart defects (septal defects)
Skeletal defects (club foot)

Minor anomalies
Small eyes, broad nasal root
Triangular facies in older children
Flat or absent philtrum
Thin upper lip
Fifth finger clinodactyly


Case 2: A 9-month-old girl was brought in by her foster mother for evaluation of developmental delay and poly-drug/alcohol exposure during pregnancy. She had been removed from her parents’ home because she was found locked in a bathroom while the parents were using methamphetamine. The surroundings suggested prolonged confinement, and the parents admitted that they had kept her there for 3 days. The biological mother was known to child protective services because of a prior removal and was known to abuse methamphetamine and other drugs.

The foster mother stated that the infant was not sitting up at age 7 months, when placed in her care. As age 9 months, the infant had made good progress but had poor sleep and occasional irritable spells. Of developmental parameters, only her weight was below the 3rd percentile for age, and she had no minor anomalies of the face or limbs. She had hypertonic reflexes and made frequent spontaneous movements with tremors. She looked up cautiously during my examination, showing the horrible passivity and approval-seeking of the neglected child. I could not make a specific diagnosis aside from suspicion that her neurologic damage was from in utero methamphetamine.

Case 3: A 2-month-old boy was brought for evaluation of feeding problems, irritability, and hypotonia. The mother was 14-years-old and accompanied by her mother, an articulate and accomplished professional of 36 years. The baby’s mother was quite mature and described her preterm pregnancy with frequent bleeding and need for bed rest at 26 weeks; she denied use of medications or illicit substances and stated that the father was not involved.

The infant had been born appropriate-for-gestational age at 28 weeks’ gestation after a failure to stop labor; the birth was complicated by meconium aspiration, with need for resuscitation. NICU care with respirator and continuous positive airway pressure lasted for 2 weeks; this was followed by severe feeding problems and reflux. Grade IV intracranial hemorrhage had been documented along with recognition of unusual facial features in the convalescent nursery. The suspected diagnosis of Down syndrome was confirmed by trisomy 21 karyotype.

The later clinical course included changes from hypotonia to spasticity, with increased reflexes and clonus. The head circumference, initially at the 50th percentile on the Down syndrome growth chart, decreased to the 3rd percentile. A diagnosis of cerebral palsy with autistic behaviors was eventually added. The mother dropped out of school to assist with care demands.


Fetal alcohol spectrum disorders is considered the most common developmental disorder in the United States, with a prevalence ranging from about 1 in 3300 to 1 in 400.1 Rates of fetal neurological damage from cocaine and methamphetamine may be at least as high; determining the incidence of neurological damage from these drugs is difficult because of the lack of red flags for diagnosis. Of all drugs used during pregnancy, tobacco has the greatest impact on birth weight.2

Factors that contribute to prenatal substance abuse are balanced by the decrease in teenage pregnancy rates to 41.5 per 1000 and the increase in offspring of unmarried women to 40% of 4.2 million annual US births in 2008.3

The 2005 to 2008 National Survey on Drug Use and Health showed that 37% of youths aged 12 to 17 years used alcohol or drugs during the past year, while 7.9% met criteria for a substance abuse disorder.1 Messages for casual sex and drug use are ubiquitous across all media, most notably in advertising, cinema, the Internet, song lyrics, and television shows. These influences can undermine the most proactive and educated parent. All physicians experience the silent despair and rage that attend examination of a helpless and irrevocably damaged child. A preventable social tsunami overwhelms the many, while exotic genetic screening informs the privileged few.

Younger women and women older than 40 years, who are conceiving in record numbers,3 face higher risks for chromosome disorders, an area for which prenatal testing is encouraged. Genetic predisposition to addiction is also well-known, yet testing for addiction susceptibility and drug usage during pregnancy is underemphasized.


I am far from prudish, but how do we balance mature drug use with its destructive effects on teenagers and reproductive rights with child health? Why do we tolerate eugenic screening for rare genetic defects, yet invest so little in epigenetic testing to prevent chemical injury? Here are some questions to consider in the spirit of what Norman Mailer called “radical conservatism”:

1. Should we extend existing child-physician relationships to middle and high school settings and mandate quarterly school clinic visits that include drug susceptibility, drug use, and STD/pregnancy testing? Practitioners could see middle-schoolers and high-schoolers at monthly half-day clinics, continuing care of their existing patients and accepting new ones on a rotating basis. They could also present to health classes and provide input on learning disorders, all paid by conventional billing or new funds (see #3 below).

2. Would a shift from drug prohibition to child protection be more practical (eg, replacing drug use incarceration of pregnant teenagers with residential confinement)? Licensed pregnancy intent with early and regular prenatal care could be required for all women if their child was to become eligible for US citizenship (anchor parents, not babies). Pregnant women with serially positive drug tests would have residential confinement and intervention; their newborns would receive foster care pending demonstration of parental capability. Mothers with later-recognized or unregistered pregnancies would have similar constraints until parental responsibility was certified. Couples seeking adoption would have active roles in transitional care and replace parents who do not meet expectations. 

3. Could not funding for uninsured teen pregnancy, pregnancy screening, drug treatment, and residential confinement/foster care programs come from taxes on alcohol and drug sales and the media that promote them? My preferred substance (beer) should be taxed as much as tobacco products, and companies or media promoting drug use would have taxes on their profits (producers of movies, such as the animated PG-rated Rango, that display unnecessary cigarette smoking would pay a fee). Another source might be compensation payments from commercial genetic laboratories that use technology (triple-quad screen, microarray, DNA testing) derived from federally funded discoveries. Perhaps these funds could restore the balance between our hyped screening for inborn errors and our Spartan collusion in the mangling of unborn or ill-born children.