Pregnancy is an exciting time for some moms-to-be, while for others it is a time filled with heartbreak and devastation. Triploidy, a rare chromosomal syndrome that affects 1-3% of pregnancies according to the National Organization of Rare Disorders, is a fatal outcome for the baby inside the womb. During this grievous time, it can be difficult for mommas to search for answers, as this type of condition is not widely known among the medical community.
However, what science doesn't tell us is the resiliency and unconditional love mothers who experience a Triploidy pregnancy have for their baby, even with a prognosis of their babe not likely surviving the duration of the pregnancy. Many women experience miscarriages early in the pregnancy, some carry for a few months, and others make it to term birthing a baby who is only 1 to 2lbs in weight. With each Triploidy pregnancy being so different, it may be difficult to explain to loved ones what to expect while mourning the loss of your child still living in utero. Here are ten facts about Triploidy pregnancy including methods on how to cope and create awareness.
10 WHAT IS A TRIPLOIDY PREGNANCY?
Generally, a fetus has a total of 46 chromosomes in a nucleus of a cell that makes up the DNA (23 from Mom and 23 from Dad). In a Triploidy pregnancy, there is an extra set of chromosomes spontaneously inherited by either parent for a total of 69, either caused by a Diandric or Digynic fertilization. Unfortunately, many infants with this syndrome are spontaneously miscarried early in the pregnancy before genetic testing can be done, or a mother may have to terminate the pregnancy to avoid further health complications.
Only 1 in 10,000 infants with full Triploid syndrome make it to a full term pregnancy; however, the baby will likely be born sleeping or pass away within the first few minutes, hours, or days due to severe growth hindrance or multiple birth abnormalities. There is no cure or treatment for babies with Triploid syndrome. Infants who survive birth are placed in palliative care for further medical monitoring and medical assistance to provide comfort to the child for the end of life. Miraculously, the longest recorded life for a child with Full Triploid Syndrome was Sabrina Lynn Cox who lived to be 14 1/2 years of age.
9 WHAT CAUSES IT?
It is important for Mom and Dad to know that the cause of Triploidy is not their fault. The age of parent does not play a factor in increasing the likelihood of the syndrome, like other chromosomal abnormalities such as Down Syndrome. It is not a hereditary condition, and the event of inheriting an extra set of chromosomes by fertilization is accidental at the time of conception.
Diandric fertilization occurs when two sperms or one sperm with two sets of chromosomes fertilizes an egg. When Diandric fertilization occurs, the Triploidy pregnancy usually miscarries early within the first trimester.
Digynic fertilization occurs when a mother has an extra set of chromosomes in her egg that has been fertilized. These pregnancies can go to full-term, however, the infant will likely be stillborn or have lethal health complications.
Although the cause of Triploidy warrants further studies; these pregnancies are sometimes diagnosed for women experiencing a cystic placenta or women who may have had a history of repeated miscarriages. Triploidy pregnancies have also been reported in women who conceived through vitro fertilization or the pregnancy ensuing shortly after oral contraceptives have been stopped.
8 DIPLOID-TRIPLOID MOSAICISM
If a child survives birth, regardless of symptoms of a full Triploidy pregnancy, this could mean the infant has a milder form of chromosomal abnormality syndrome called Diploid-Triploid Mosaicism. This means that some cell lines are considered normal with 46 chromosomes, while other cell lines have 69.
Although Diploid-Triploid Mosaicism is not immediately fatal, those babies who survive have a higher likelihood of having a mild to severe developmental and learning delays; hearing loss; low muscle tone caused by hypotonia; body and facial asymmetry, inconsistent skin pigmentation; excessive fat around the abdomen and stomach; small ears; and webbing in the finger and toes. Nonetheless, children born with Diploid-Triploid Mosaicism can live a few years as opposed to Full Triploid.
7 TRIPLOIDY PREGNANCY
Pregnant mothers of a fetus with Triploid syndrome may experience symptoms such as high blood pressure (hypertension), swelling (edema), and a protein found in the urine associated with a kidney disease called Albuminuria. These symptoms are all predictors of Preeclampsia, a condition that can arise halfway through the pregnancy.
Some Triploidy pregnancies, women report that they become very ill. Be that as it may, some Triploidy pregnancies, women experience no symptoms what so ever. However, depending on the type of fertilization that resulted in Triploidy, the placenta and fetus may present different characteristics.
If the embryo had been Diandric fertilized, the placenta may be large and filled with cysts. The placenta may be considered to have a hydati-form mole, or the entire pregnancy may be diagnosed as a partial molar pregnancy. If the embryo received Digynic fertilization, this could cause the infant to develop an abnormally large head but have severely restricted body growth. The placenta may be very small with no cysts present.
It is crucial to consult your doctor regarding potential health repercussions carrying a Triploidy baby to full-term. Even though some women are able to birth their child with no maternal risks, some may be advised to terminate the pregnancy as soon as receiving the diagnosis. This would be an incredibly difficult decision to make, nevertheless, Triploid syndrome could cause a rare form of cancer called Choriocarcinoma, which is caused by leftover tissue from the embryo that had not developed or partially developed, causing more cysts to appear.
6 HEALTH PROBLEMS
Triploidy can cause many health ailments for babies who survive pregnancy and birth. It can cause issues of heart, adrenal, liver, gallbladder and kidney defects due to placenta abnormalities while the baby was growing in utero. Triploidy can also cause abnormal brain development and neural tube defects resulting in the baby developing severe Spinabifida. Some physical abnormalities of a Triploidy infant include widely spaced eyes, low nasal bridge, low and deformed ears, small jaw, tiny eyes, cleft lip and palate, webbing and deformities in the fingers and toes, abnormal genitalia in males, and disproportionate limbs.
Other symptoms that are seen in Diploid-Triploid Mosaicism may also be observed in Full Triploidy such as poor muscle tone, facial asymmetry, and irregular skin pigments. Despite these physical abnormalities, every baby born with Triploidy is a beautiful miracle and regarded as perfect and precious to loving parents.
5 DETECTION AND DIAGNOSIS
Triploid syndrome can be detected as early as a 12-week ultrasound from the findings of severe intrauterine growth restriction and brain abnormalities such as enlarged ventricles or cerebellum. Fetal ultrasounds can be used as a tool to diagnose Triploidy early in pregnancy because it can pick up malformations and low amniotic fluid.
Howbeit, some Triploidy pregnancies are not detected until the second trimester, when blood tests are taken for genetic screening. These blood tests can detect too much or too little proteins called Albuminuria, that have leaked into the mother's blood system from the fetus' placenta, which is an indicator of potential Triploid syndrome. If a mom's genetic testing blood work comes back abnormal, her doctor should send her for a chromosomal karyotype test or amniotic fluid analysis by amniocentesis, which is a sampling of amniotic fluid extracted from the uterus. These tests would determine how many sets of chromosomes are in each cell line, thus leading to a diagnosis of Triploidy syndrome if there are 69 chromosomes.
Every experience of a Triploidy pregnancy and birth is so different, so the predicted outcome may have mothers searching for answers that are not easily attained. Triploidy's prognosis is always fatal, however, it is important to consult with your doctor the particularities of the pregnancy to determine what the appropriate outcome should be. No matter how well you plan for your baby, you will always have regrets; as this is an unimaginable circumstance and you will always wish you could go back and have more time with your precious child. However, it is important to follow your maternal instincts and consider what you feel is best for momma and baby.
Even though Triploidy pregnancies occur from faulty fertilization, the baby is not a mistake or an accident and many mothers still feel a connection with the child in utero. If there are no major complications to a mothers health, your doctor may reassure you that the child you are carrying is in no pain and allow you to carry to full term. Regardless, whatever decision you choose, to continue carrying the child or terminating the pregnancy, there is no wrong choice. As well, the chances of a Triploidy pregnancy happening again to a mother who experienced it, are very low.
3 LACK OF KNOWLEDGE IN THE MEDICAL COMMUNITY
Since Triploidy is such a rare condition, many healthcare professional may be unfamiliar with the diagnosis. It may be a learning curve for both the parents and doctor, so open communication is crucial. Many parents who receive the diagnosis will have the availability to consult with genetic counselors, who are professionals that provide information and support to families who have children or babies expected to have genetic disorders or birth defects.
Families who are well-informed about the diagnosis and have strong communication with the mother's medical team may find ease on the added stress of making decisions. In addition, reaching out to social media groups with other mothers who have experienced a Triploidy pregnancy may be a great source of information and support. Along with having a thorough birth plan outlining wishes of mom, so she can focus on cherishing anytime she has, to spend time with her child while the child is living.
2 COPING WITH A TRIPLOIDY PREGNANCY DIAGNOSIS
Coping with a Triploidy pregnancy diagnosis is a devastating and lonely time for parents. It is essential to have a durable support system of family, friends, and other moms who have experienced this type of pregnancy. Many parents opt for bereavement counseling and support groups where they can openly communicate their thoughts and feeling, plus learn valuable coping skills for grief. Practicing self-care activities or spirituality, are also important for maintaining a mother's mental health while processing the death of her child.
Some mothers of Triploid pregnancies hire photographers for the birth of her child, to have special photographed mementos to cherish of the short time spent with the baby. It can also be comforting to have recordings of the baby's heartbeat for mom or keeping articles of the baby's clothing to acknowledge that she still created a life inside her womb. Regardless of how she chooses to mourn her child, every experience is different and she should be surrounded by love and support.
1 CREATING AWARENESS
Since Triploid syndrome is a rare condition that results in an extra set of chromosomes during the fertilization of a fetus; many medical professionals, friends, and family are unfamiliar with the condition. Receiving the diagnosis can be traumatizing and heartbreaking but creating awareness of the condition can be healing and reassuring. It helps to talk openly about your pregnancy and child, to educate others of the condition, and reach out to other moms who have gone through the same experience. Even though Triploid syndrome is a rare occurrence in pregnancies, creating awareness may bring forth more studies conducted on the condition.