T-18/Edward's Syndrome

 
“Trisomy 18, an extra copy of chromosome 18 (a triple), can be life-threatening. Most Trisomy 18 cases are diagnosed prenatally in the United States using a blood sample of the baby’s DNA extracted most often using the chromosomes in the white blood cells. Trisomy 18 diagnosis occurs in about 1 out of every 2500 pregnancies but only 1 in 6000 result in live births. The numbers of total births is significantly low because of the numbers of abortions and the stillbirths that occur in the 2nd and 3rd trimesters of pregnancy.”[i]

“It is difficult to get up-to-date figures on abortion rates but in 1999 Trisomy 21 (Down Syndrome), had an abortion rate of about 90% upon diagnosis.”[ii] “Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life.”[iii]

Leave it to good old Wikipedia to give some startling numbers:
In 2008/2009, 495 diagnoses of Edwards syndrome (Trisomy 18) were made in England and Wales, 92% of which were made prenatally, resulting in 339 abortions, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births.[11] Because about 3% of cases with unknown outcomes are likely to result in a live birth, the total number of live births is estimated to be 37 (2008/09 data are provisional). Major causes of death include apnea and heart abnormalities. It is impossible to predict an exact prognosis during pregnancy or the neonatal period.[9] Half of the infants with this condition do not survive beyond the first week of life.[12] The median lifespan is five to 15 days.[13][14] About 8% of infants survive longer than 1 year.[15] One percent of children live to age 10, typically in less severe cases of the mosaic Edwards syndrome.[9]”[iv]  (I’ve left the Wiki references as a fact checker for you, dear reader, if you care to go deeper.)

It is probable that for T-18 the abortion rate is much higher because the diagnosis is much bleaker than Downs. One report studied cases from 1999 to 2009. “Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of trisomy 18, six cases of triploidy, and three cases of trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for trisomy 18 and 33% for trisomy 13. The three live-born infants with trisomy 13 and 18 died early after a maximum of 87 hr. postpartum.”[v]

You may notice what I noticed when I first tried to find out about T-18. The studies are old. Many of the doctors I found were quoting research from 2011. Over a 10 year period they only studied one hundred seven cases. That tells me this is a very rare occurrence and that the medical community doesn’t have much experience treating children who are born with this disorder.

I couldn’t agree more with the summarizing statement of this report, “Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed.”[vi] More study is necessary, but the opportunity to study these children is limited because most do not have the chance to survive to be studied.

The final sentence states, “Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling.”[vii] Of course, this is exactly true. Non-termination remains an option at least in the United States, but according to a T-18 baby’s mother in the Netherlands, termination is the only option.

This is what she told me, “I refused to have the blood test or the amniocentesis because if they diagnosed the defect prenatally, I would have been force[d] to have an abortion.”[viii]

[i] Ibid. 38 http://www.trisomy18.org/what-is-trisomy-18/
[ii] C. Mansfield, Hopfer S, Marteau TM Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).    1Psychology and Genetics Research Group, Guy's, King's and St Thomas' Medical School (King's College), London, UK.  Sept. 1999 https://www.ncbi.nlm.nih.gov/pubmed/10521836?dopt=AbstractPlus
[iii] Ibid. 38 http://www.trisomy18.org/what-is-trisomy-18/
[iv] Ibid. 39 https://en.wikipedia.org/wiki/Edwards_syndrome
[v] C. Lakovschek, Streubel B, Ulm B.Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria. [email protected]  Copyright © 2011 Wiley Periodicals, Inc. https://www.ncbi.nlm.nih.gov/pubmed/21990236
[vi] Ibid.
[vii] Ibid.
[viii] Netherlands mother through Facebook


I knew that after the blood test confirming T-18, 93% of those mothers terminate. I also knew that the blood test had a “high positive” rate making it unreliable. When the results of the amnio showed full Trisomy 18, and I again refused termination, my specialist became angry and abusive. She called me a “foolish, irresponsible woman.” She talked about my “geriatric pregnancy” saying, “Women your age shouldn’t get pregnant.” She gave me a list of not just kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).[5][6]
Physical malformations include small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, choroid plexus cysts, underdeveloped thumbs and/or nails, absent radius, webbing of the second and third toes, clubfoot or rocker bottom feet, and in males, undescended testicles.[5][6]
In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies, such as head shape abnormalities. The most common intracranial anomaly is the presence of choroid plexus cysts, which are pockets of fluid on the brain. These are not problematic in themselves, but their presence may be a marker for Trisomy 18.[7][8] Sometimes, excess amniotic fluid or polyhydramnios is exhibited.[5][ii]
A chilling statistic—96% of those parents who don’t abort after the blood test terminate after the amniocentesis. Many doctors admit they know very little about Trisomy 18. Trisomy 18 is rare, and it is rare to have a baby born alive with Trisomy 18. It’s no wonder: if the killing of these babies continues, there will be very few to study to learn what the options are and what the prognosis is for these children.

[ii] Wikipedia Edwards Syndrome https://en.wikipedia.org/wiki/Edwards_syndrome