Healthy Pregnancy: 5 Rare Congenital Defects


healthy pregnancy, congenital defects

Pregnancy is truly a miraculous process. Considering how many delicate processes are going on, it’s amazing that a complex human being with a rich genetic past and future can be created in only nine months. However, sometimes genetic coding mistakes and outside factors can cause defects that can greatly impact a baby’s life before and after it’s born.

You most likely have heard of congenital defects like Down syndrome, but there are many that modern medicine is attempting to understand through scientific research. It can be useful to be more informed about these possibilities in case you ever have to deal with them with a child of your own. Knowing what to expect can give piece of mind through confusion and heartache, and knowing how to handle the issues of your child’s specific disorder can help you prepare for how to take care of them throughout their infancy and life. The following are just five of many congenital defects you may not have heard of, but you may want to be informed about.

1. Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by deletion of the short arm of chromosome 4. It usually presents prenatally, and those who survive birth grow up with specific facial characteristics (a small head size, widely-spaced eyes, a small chin, and down-turned eyes) as well as seizures in children and sleeping problems. Unfortunately, about 35% of those diagnosed with WHS die within the first year of life. However, early detection and diagnosis can lead to better, more effective treatment of individual symptoms.

Unfortunately, WHS symptoms (and therefore required treatment) varies greatly upon the individual. For example, some individuals who have WHS need surgery for cleft palate and/or cleft lip, others may have issues feeding and may need a gastronomy tube, and others may have seizures or heart defects. It’s likely that you’ll need multiple specialists to help your child if he or she has WHS.

2. Turner syndrome

Turner syndrome (TS) is the result of a missing or incomplete X chromosome in females. There is no known cause for why this occurs. Common symptoms of TS include gonadal dysgenesis (a loss of germ cells on developing embryonic gonads that leads to dysfunctional, underdeveloped gonads) and short physical stature. Gonadal dysgenesis can lead to infertility, ovarian failure, and sexual under-development. Treatment includes growth hormone therapy and estrogen therapy during specific times of your daughter’s life, and she will require fertility treatments later in life if she wants to have children of her own.

3. DiGeorge syndrome

Also known as 22q11.2 deletion syndrome, DiGeorge syndrome (DS) is caused by the deletion of a small segment in the middle of chromosome 22. First described in 1968, it’s the most common deletion syndrome, and it has an autosomal dominant inheritance pattern. Common symptoms include congenital heart disease, cyanosis (poor circulation of oxygenated blood leading to blueish-tinted skin), learning difficulties, autism, and renal abnormalities. Symptoms are highly diversified and vary from person to person. This, coupled with varied phenotypes, make DS difficult to diagnose. There is no known cure, but early detection is imperative, especially in children, since immune-based symptoms call for special precautions to be taken when giving these children vaccinations or blood transfusions.

The syndrome itself is incurable; however, treatment can usually correct more serious symptoms of it; for example, calcium and Vitamin D supplements can help with hyperparathyroidism.

4. Phenylketonuria

Nurses working on an online RN to MSN will learn about phenylketonuria (PKU), a rare congenital disorder that causes an increased amount of phenylalanine (an amino acid gained through proteins in food) in the blood. An abundance of phenylalanine can lead to intellectual disabilities, seizures, musty body odor, skin disorders, and more. PKU occurs in 1 in 10,000–15,000 American newborns. It can be detected relatively quickly after birth and should be promptly treated. Due to early detection and treatment, cases tend to be relatively mild. Inheritance pattern is autosomal recessive.

5. Jacobsen syndrome

Jacobsen syndrome (JS) is caused by deletion of material from the end of the long arm of chromosome 11. Symptoms of JS commonly include developmental delays, autism, attention-deficit hyperactive disorder (ADHD), a large head size, and a pointed forehead. About 90% of those with JS have Paris-Trousseau syndrome, a bleeding disorder that causes individuals to bleed and bruise quite easily. Feeding issues and heart defects are also found in those with JS, so your child will have to be monitored regularly and may need blood or platelet transfusions before or during surgeries.

Only about 200 cases have been reported, making JS rare. In many cases, JS is actually not inherited but happens randomly during the formative of reproductive cells or early on in fetal development stages. Somewhere between 5 and 10% of those with JS inherit it from a parent who carries a balanced translocation (which is a chromosomal abnormality in which a segment of chromosome 11 swaps places with another chromosome’s segment). Diagnosis is difficult due to the extreme rarity of JS, and, while there is no cure, doctors treat individual symptoms.

The last thing any parent wants to think about is anything but a perfectly healthy baby, but genetic problems and syndromes exist and can happen to your child, sometimes without any apparent cause. It may give you peace of mind to seek genetic testing in order to predict any problems that may arise from your partner’s genetics and yours affecting a child. If your child is diagnosed with any of these issues before birth, the best thing you can do is research the issue as thoroughly as possible so you can be prepared to cope with it and take the best care of your child possible.

If you are a parent after 40 and want more information about genetic testing and a healthy pregnancy after 40, check out our book The Art of Pregnancy After 40.

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